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    ZNF248 zinc finger protein 248 [ Homo sapiens (human) ]

    Gene ID: 57209, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ZNF248provided by HGNC
    Official Full Name
    zinc finger protein 248provided by HGNC
    Primary source
    HGNC:HGNC:13041
    See related
    Ensembl:ENSG00000198105 AllianceGenome:HGNC:13041
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    bA162G10.3
    Summary
    Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in endometrium (RPKM 2.8), thyroid (RPKM 2.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10p11.21
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (37758538..37858103, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (37802500..37902073, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (38047466..38147031, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724533 Neighboring gene uncharacterized LOC105376498 Neighboring gene zinc finger protein 33B pseudogene 1 Neighboring gene tousled like kinase 2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3270 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:38146408-38146784 Neighboring gene ZNF248 antisense RNA 1 Neighboring gene uncharacterized LOC124902413 Neighboring gene zinc finger protein 37C, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Gene-based analysis identified the gene ZNF248 is associated with late-onset asthma in African Americans. Wang L, et al. Ann Allergy Asthma Immunol, 2016 Jul. PMID 27238579, Free PMC Article
    2. Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p. Guy J, et al. Genome Res, 2003 Feb. PMID 12566394, Free PMC Article
    3. Common body mass index-associated variants confer risk of extreme obesity. Cotsapas C, et al. Hum Mol Genet, 2009 Sep 15. PMID 19553259, Free PMC Article
    4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451, Free PMC Article
    5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Smoking and obesity are risk factors for LOA. ZNF248 confers increased susceptibility to LOA in African Americans.
      Title: Gene-based analysis identified the gene ZNF248 is associated with late-onset asthma in African Americans.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common body mass index-associated variants confer risk of extreme obesity.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0137, MGC131882

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 248
    Names
    KRAB protein domain
    Kruppel-type zinc finger protein
    bA162G10.3 (zinc finger protein)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001267597.2 → NP_001254526.1  zinc finger protein 248 isoform 1

      See identical proteins and their annotated locations for NP_001254526.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 6-11 all encode the same isoform (1).
      Source sequence(s)
      AA836603, AJ491695, AK299357, AL135791
      Consensus CDS
      CCDS7194.1
      UniProtKB/Swiss-Prot
      Q8NDV8, Q8NDW4, Q9UMP3
      UniProtKB/TrEMBL
      A2RUI7
      Related
      ENSP00000349882.4, ENST00000357328.8
      Conserved Domains (3) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:406 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:494 → 514
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001267605.2 → NP_001254534.1  zinc finger protein 248 isoform 2

      See identical proteins and their annotated locations for NP_001254534.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks a segment in the 3' region, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 3, 4, and 13-17 all encode the same isoform (2).
      Source sequence(s)
      AA836603, AJ491695, AJ492196, AL135791, DB073240
      Consensus CDS
      CCDS58077.1
      UniProtKB/TrEMBL
      Q05CR2
      Related
      ENSP00000363778.3, ENST00000374648.7
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    3. NM_001267606.2 → NP_001254535.1  zinc finger protein 248 isoform 2

      See identical proteins and their annotated locations for NP_001254535.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has additional segments in the 5' UTR and lacks a segment in the 3' region, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 3, 4, and 13-17 all encode the same isoform (2).
      Source sequence(s)
      AA836603, AJ491695, AL135791, BC110869
      Consensus CDS
      CCDS58077.1
      UniProtKB/TrEMBL
      Q05CR2
      Related
      ENSP00000484191.1, ENST00000611278.4
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    4. NM_001267607.3 → NP_001254536.1  zinc finger protein 248 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 5 and 12 both encode the same isoform (3).
      Source sequence(s)
      AL132657, AL135791
      Consensus CDS
      CCDS73087.1
      UniProtKB/TrEMBL
      A0A087WTK3, Q05CR2
      Related
      ENSP00000477940.1, ENST00000615949.6
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    5. NM_001352469.2 → NP_001339398.1  zinc finger protein 248 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 1, 2, and 7-11, encodes isoform 1.
      Source sequence(s)
      AL135791
      Consensus CDS
      CCDS7194.1
      UniProtKB/Swiss-Prot
      Q8NDV8, Q8NDW4, Q9UMP3
      UniProtKB/TrEMBL
      A2RUI7
      Conserved Domains (3) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:406 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:494 → 514
      ZF_C2H2; C2H2 Zn finger [structural motif]

    6. NM_001352470.2 → NP_001339399.1  zinc finger protein 248 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 1, 2, 6, and 8-11, encodes isoform 1.
      Source sequence(s)
      AL135791
      Consensus CDS
      CCDS7194.1
      UniProtKB/Swiss-Prot
      Q8NDV8, Q8NDW4, Q9UMP3
      UniProtKB/TrEMBL
      A2RUI7
      Conserved Domains (3) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:406 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:494 → 514
      ZF_C2H2; C2H2 Zn finger [structural motif]

    7. NM_001352471.2 → NP_001339400.1  zinc finger protein 248 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 1, 2, 6, 7, and 9-11, encodes isoform 1.
      Source sequence(s)
      AL135791
      Consensus CDS
      CCDS7194.1
      UniProtKB/Swiss-Prot
      Q8NDV8, Q8NDW4, Q9UMP3
      UniProtKB/TrEMBL
      A2RUI7
      Conserved Domains (3) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:406 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:494 → 514
      ZF_C2H2; C2H2 Zn finger [structural motif]

    8. NM_001352472.2 → NP_001339401.1  zinc finger protein 248 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variants 1, 2, 6-8, 10, and 11, encodes isoform 1.
      Source sequence(s)
      AL135791
      Consensus CDS
      CCDS7194.1
      UniProtKB/Swiss-Prot
      Q8NDV8, Q8NDW4, Q9UMP3
      UniProtKB/TrEMBL
      A2RUI7
      Conserved Domains (3) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:406 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:494 → 514
      ZF_C2H2; C2H2 Zn finger [structural motif]

    9. NM_001352473.2 → NP_001339402.1  zinc finger protein 248 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variants 1, 2, 6-9, and 11, encodes isoform 1.
      Source sequence(s)
      AL135791
      Consensus CDS
      CCDS7194.1
      UniProtKB/Swiss-Prot
      Q8NDV8, Q8NDW4, Q9UMP3
      UniProtKB/TrEMBL
      A2RUI7
      Conserved Domains (3) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:406 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:494 → 514
      ZF_C2H2; C2H2 Zn finger [structural motif]

    10. NM_001352474.2 → NP_001339403.1  zinc finger protein 248 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variants 1, 2, and 6-10, encodes isoform 1.
      Source sequence(s)
      AL135791
      Consensus CDS
      CCDS7194.1
      UniProtKB/Swiss-Prot
      Q8NDV8, Q8NDW4, Q9UMP3
      UniProtKB/TrEMBL
      A2RUI7
      Conserved Domains (3) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:406 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:494 → 514
      ZF_C2H2; C2H2 Zn finger [structural motif]

    11. NM_001352476.2 → NP_001339405.1  zinc finger protein 248 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12), as well as variant 5, encodes isoform 3.
      Source sequence(s)
      AL132657, AL135791
      Consensus CDS
      CCDS73087.1
      UniProtKB/TrEMBL
      A0A087WTK3, Q05CR2
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    12. NM_001352477.2 → NP_001339406.1  zinc finger protein 248 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13), as well as variants 3, 4, and 14-17, encodes isoform 2.
      Source sequence(s)
      AL135791
      Consensus CDS
      CCDS58077.1
      UniProtKB/TrEMBL
      Q05CR2
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    13. NM_001352478.2 → NP_001339407.1  zinc finger protein 248 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14), as well as variants 3, 4, 13, and 15-17, encodes isoform 2.
      Source sequence(s)
      AL135791
      Consensus CDS
      CCDS58077.1
      UniProtKB/TrEMBL
      Q05CR2
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    14. NM_001352479.2 → NP_001339408.1  zinc finger protein 248 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15), as well as variants 3, 4, 13, 14, 16, and 17, encodes isoform 2.
      Source sequence(s)
      AL135791
      Consensus CDS
      CCDS58077.1
      UniProtKB/TrEMBL
      Q05CR2
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    15. NM_001352480.2 → NP_001339409.1  zinc finger protein 248 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16), as well as variants 3, 4, 13-15, and 17, encodes isoform 2.
      Source sequence(s)
      AL135791
      Consensus CDS
      CCDS58077.1
      UniProtKB/TrEMBL
      Q05CR2
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    16. NM_001352481.2 → NP_001339410.1  zinc finger protein 248 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17), as well as variants 3, 4, and 13-16, encodes isoform 2.
      Source sequence(s)
      AL135791
      Consensus CDS
      CCDS58077.1
      UniProtKB/TrEMBL
      Q05CR2
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    17. NM_001352482.2 → NP_001339411.1  zinc finger protein 248 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (18), as well as variants 19-28, encodes isoform 4.
      Source sequence(s)
      AL135791
      Conserved Domains (2) summary
      COG5048
      Location:262 → 328
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:350 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]

    18. NM_001352483.1 → NP_001339412.1  zinc finger protein 248 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL135791
      Conserved Domains (2) summary
      COG5048
      Location:262 → 328
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:350 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]

    19. NM_001352484.2 → NP_001339413.1  zinc finger protein 248 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (20), as well as variants 18, 19, and 21-28, encodes isoform 4.
      Source sequence(s)
      AL135791
      Conserved Domains (2) summary
      COG5048
      Location:262 → 328
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:350 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]

    20. NM_001352485.1 → NP_001339414.1  zinc finger protein 248 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (21), as well as variants 18-20 and 22-28, encodes isoform 4.
      Source sequence(s)
      AL135791
      Conserved Domains (2) summary
      COG5048
      Location:262 → 328
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:350 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]

    21. NM_001352486.2 → NP_001339415.1  zinc finger protein 248 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (22), as well as variants 18-21 and 23-28, encodes isoform 4.
      Source sequence(s)
      AL135791
      Conserved Domains (2) summary
      COG5048
      Location:262 → 328
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:350 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]

    22. NM_001352487.2 → NP_001339416.1  zinc finger protein 248 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (23), as well as variants 18-22 and 24-28, encodes isoform 4.
      Source sequence(s)
      AL135791
      Conserved Domains (2) summary
      COG5048
      Location:262 → 328
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:350 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]

    23. NM_001352488.2 → NP_001339417.1  zinc finger protein 248 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (24), as well as variants 18-23 and 25-28, encodes isoform 4.
      Source sequence(s)
      AL135791
      Conserved Domains (2) summary
      COG5048
      Location:262 → 328
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:350 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]

    24. NM_001352489.2 → NP_001339418.1  zinc finger protein 248 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (25), as well as variants 18-24 and 26-28, encodes isoform 4.
      Source sequence(s)
      AL135791
      Conserved Domains (2) summary
      COG5048
      Location:262 → 328
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:350 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]

    25. NM_001352490.2 → NP_001339419.1  zinc finger protein 248 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (26), as well as variants 18-25, 27, and 28, encodes isoform 4.
      Source sequence(s)
      AL135791
      Conserved Domains (2) summary
      COG5048
      Location:262 → 328
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:350 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]

    26. NM_001352491.2 → NP_001339420.1  zinc finger protein 248 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (27), as well as variants 18-26 and 28, encodes isoform 4.
      Source sequence(s)
      AL135791
      Conserved Domains (2) summary
      COG5048
      Location:262 → 328
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:350 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]

    27. NM_001352492.2 → NP_001339421.1  zinc finger protein 248 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (28), as well as variants 18-27, encodes isoform 4.
      Source sequence(s)
      AL135791
      Conserved Domains (2) summary
      COG5048
      Location:262 → 328
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:350 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]

    28. NM_001352493.2 → NP_001339422.1  zinc finger protein 248 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (29), as well as variant 30, encodes isoform 5.
      Source sequence(s)
      AL132657, AL135791
      Consensus CDS
      CCDS86083.1
      UniProtKB/TrEMBL
      Q05CR2, S4R340
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    29. NM_001352494.2 → NP_001339423.1  zinc finger protein 248 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (30), as well as variant 29, encodes isoform 5.
      Source sequence(s)
      AL132657, AL135791
      Consensus CDS
      CCDS86083.1
      UniProtKB/TrEMBL
      Q05CR2, S4R340
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    30. NM_021045.3 → NP_066383.1  zinc finger protein 248 isoform 1

      See identical proteins and their annotated locations for NP_066383.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 2, and 6-11 all encode the same isoform (1).
      Source sequence(s)
      AA836603, AJ491695, AL135791, DB073240
      Consensus CDS
      CCDS7194.1
      UniProtKB/Swiss-Prot
      Q8NDV8, Q8NDW4, Q9UMP3
      UniProtKB/TrEMBL
      A2RUI7
      Related
      ENSP00000379208.3, ENST00000395867.8
      Conserved Domains (3) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:406 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:494 → 514
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RNA

    1. NR_147991.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL135791

    2. NR_147992.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132657, AL135791

    3. NR_147993.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132657, AL135791

    4. NR_147994.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132657, AL135791

    5. NR_147995.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132657, AL135791

    6. NR_147996.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL135791

    7. NR_147997.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132657, AL135791

    8. NR_147998.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132657, AL135791

    9. NR_147999.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132657, AL135791

    10. NR_148000.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132657, AL135791

    11. NR_148001.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132657, AL135791

    12. NR_148002.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132657, AL135791

    13. NR_148003.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL135791

    14. NR_148004.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132657, AL135791

    15. NR_148005.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL135791

    16. NR_148006.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132657, AL135791

    17. NR_148007.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132657, AL135791

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      37758538..37858103 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016448.2 → XP_016871937.1  zinc finger protein 248 isoform X2

    2. XM_047425550.1 → XP_047281506.1  zinc finger protein 248 isoform X4

      UniProtKB/TrEMBL
      S4R340
      Related
      ENSP00000473904.1, ENST00000485560.5

    3. XM_047425549.1 → XP_047281505.1  zinc finger protein 248 isoform X4

      UniProtKB/TrEMBL
      S4R340

    4. XM_047425546.1 → XP_047281502.1  zinc finger protein 248 isoform X3

    5. XM_047425544.1 → XP_047281500.1  zinc finger protein 248 isoform X1

      UniProtKB/Swiss-Prot
      Q8NDV8, Q8NDW4, Q9UMP3
      UniProtKB/TrEMBL
      A2RUI7

    6. XM_047425548.1 → XP_047281504.1  zinc finger protein 248 isoform X3

      Related
      ENSP00000379214.3, ENST00000395873.7

    7. XM_047425545.1 → XP_047281501.1  zinc finger protein 248 isoform X1

      UniProtKB/Swiss-Prot
      Q8NDV8, Q8NDW4, Q9UMP3
      UniProtKB/TrEMBL
      A2RUI7

    8. XM_011519599.2 → XP_011517901.1  zinc finger protein 248 isoform X3

      See identical proteins and their annotated locations for XP_011517901.1

      UniProtKB/TrEMBL
      Q05CR2
      Conserved Domains (1) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box

    9. XM_047425547.1 → XP_047281503.1  zinc finger protein 248 isoform X3

    10. XM_017016445.2 → XP_016871934.1  zinc finger protein 248 isoform X1

      UniProtKB/Swiss-Prot
      Q8NDV8, Q8NDW4, Q9UMP3
      UniProtKB/TrEMBL
      A2RUI7
      Conserved Domains (3) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:406 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:494 → 514
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RNA

    1. XR_001747152.2 RNA Sequence

    2. XR_001747150.2 RNA Sequence

    3. XR_001747148.2 RNA Sequence

    4. XR_001747156.2 RNA Sequence

    5. XR_001747146.2 RNA Sequence

    6. XR_001747153.2 RNA Sequence

    7. XR_001747149.2 RNA Sequence

    8. XR_001747147.2 RNA Sequence

    9. XR_007061976.1 RNA Sequence

    10. XR_007061977.1 RNA Sequence

    11. XR_001747155.2 RNA Sequence

    12. XR_007061975.1 RNA Sequence

    13. XR_007061974.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      37802500..37902073 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366390.1 → XP_054222365.1  zinc finger protein 248 isoform X2

    2. XM_054366395.1 → XP_054222370.1  zinc finger protein 248 isoform X4

      UniProtKB/TrEMBL
      S4R340

    3. XM_054366394.1 → XP_054222369.1  zinc finger protein 248 isoform X4

      UniProtKB/TrEMBL
      S4R340

    4. XM_054366393.1 → XP_054222368.1  zinc finger protein 248 isoform X3

    5. XM_054366389.1 → XP_054222364.1  zinc finger protein 248 isoform X1

      UniProtKB/Swiss-Prot
      Q8NDV8, Q8NDW4, Q9UMP3
      UniProtKB/TrEMBL
      A2RUI7

    6. XM_054366392.1 → XP_054222367.1  zinc finger protein 248 isoform X3

    7. XM_054366391.1 → XP_054222366.1  zinc finger protein 248 isoform X3

    8. XM_054366388.1 → XP_054222363.1  zinc finger protein 248 isoform X1

      UniProtKB/Swiss-Prot
      Q8NDV8, Q8NDW4, Q9UMP3
      UniProtKB/TrEMBL
      A2RUI7

    RNA

    1. XR_008488237.1 RNA Sequence

    2. XR_008488234.1 RNA Sequence

    3. XR_008488233.1 RNA Sequence

    4. XR_008488239.1 RNA Sequence

    5. XR_008488230.1 RNA Sequence

    6. XR_008488236.1 RNA Sequence

    7. XR_008488238.1 RNA Sequence

    8. XR_008488235.1 RNA Sequence

    9. XR_008488232.1 RNA Sequence

    10. XR_008488241.1 RNA Sequence

    11. XR_008488242.1 RNA Sequence

    12. XR_008488231.1 RNA Sequence

    13. XR_008488240.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NDW4.1 GenPept UniProtKB/Swiss-Prot:Q8NDW4

    Gene LinkOut

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