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    ZNF674 zinc finger protein 674 [ Homo sapiens (human) ]

    Gene ID: 641339, updated on 17-Jun-2024

    Summary

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    Official Symbol
    ZNF674provided by HGNC
    Official Full Name
    zinc finger protein 674provided by HGNC
    Primary source
    HGNC:HGNC:17625
    See related
    Ensembl:ENSG00000251192 MIM:300573; AllianceGenome:HGNC:17625
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRX92; ZNF673B
    Summary
    This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 11 Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disabilities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in brain (RPKM 1.3), prostate (RPKM 1.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF674 in Genome Data Viewer
    Location:
    Xp11.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (46497725..46545421, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (45904681..45952389, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (46357160..46404856, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 65 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:46306311-46306968 Neighboring gene KRAB box domain containing 4 Neighboring gene VEZT pseudogene 1 Neighboring gene U6 spliceosomal RNA Neighboring gene RNA, U6 small nuclear 50, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:46404230-46405429 Neighboring gene ZNF674 antisense RNA 1 (head to head) Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:46411040-46411938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29571 Neighboring gene marker of proliferation Ki-67 pseudogene 1

    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. Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? Delphin N, et al. Eur J Hum Genet, 2012 Mar. PMID 22126752, Free PMC Article
    2. ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Lugtenberg D, et al. Am J Hum Genet, 2006 Feb. PMID 16385466, Free PMC Article
    3. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Piton A, et al. Am J Hum Genet, 2013 Aug 8. PMID 23871722, Free PMC Article
    4. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    5. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These findings question the responsibility of ZNF674 deletions in intellectual disability (ID) associated with X-linked retinal dystrophy.
      Title: Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
    2. Identification of ZNF674 as the third X-linked mental retardation gene in this cluster may indicate a common role for these zinc-finger genes that is crucial to human cognitive functioning.
      Title: ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-03-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    No evidence available (Last evaluated 2023-03-28)

    ClinGen Genome Curation PagePubMed

    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

    • DKFZp686H0940

    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
    		  
    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 674
    Names
    zinc finger family member 674

    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.

    Genomic

    1. NG_023376.2 RefSeqGene

      Range
      5037..52733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039891.3 → NP_001034980.1  zinc finger protein 674 isoform 1

      See identical proteins and their annotated locations for NP_001034980.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL031393, AW173662, AY971607, BQ417100
      Consensus CDS
      CCDS48099.1
      UniProtKB/Swiss-Prot
      B4DHE2, E9PHQ4, Q2M3X9
      Related
      ENSP00000429148.1, ENST00000523374.5
      Conserved Domains (6) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:190 → 580
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:226 → 246
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:280 → 302
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:399 → 423
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001146291.2 → NP_001139763.1  zinc finger protein 674 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses alternate in-frame donor and acceptor splice sites at two coding exons compared to variant 1, resulting in an isoform (2), which is 6 aa shorter than isoform 1.
      Source sequence(s)
      AL031393, AW173662, AY971607, BQ417100, DA195605
      Consensus CDS
      CCDS55406.1
      UniProtKB/Swiss-Prot
      Q2M3X9
      Related
      ENSP00000428248.1, ENST00000414387.6
      Conserved Domains (3) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:184 → 574
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:220 → 240
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_001190417.2 → NP_001177346.1  zinc finger protein 674 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site at a coding exon, compared to variant 1, resulting in an isoform (3), which is 5 aa shorter than isoform 1.
      Source sequence(s)
      AL031393, AW173662, AY971607, DC317540
      Consensus CDS
      CCDS94605.1
      UniProtKB/TrEMBL
      A0A804HHU7
      Related
      ENSP00000506769.1, ENST00000683375.1
      Conserved Domains (6) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:185 → 575
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:221 → 241
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:275 → 297
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:394 → 418
      zf-H2C2_2; Zinc-finger double domain

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      46497725..46545421 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543943.4 → XP_011542245.1  zinc finger protein 674 isoform X1

      Conserved Domains (6) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:189 → 579
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:225 → 245
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:279 → 301
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:398 → 422
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      45904681..45952389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327571.1 → XP_054183546.1  zinc finger protein 674 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2M3X9.1 GenPept UniProtKB/Swiss-Prot:Q2M3X9

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