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    ZNF280D zinc finger protein 280D [ Homo sapiens (human) ]

    Gene ID: 54816, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF280Dprovided by HGNC
    Official Full Name
    zinc finger protein 280Dprovided by HGNC
    Primary source
    HGNC:HGNC:25953
    See related
    Ensembl:ENSG00000137871 AllianceGenome:HGNC:25953
    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
    SUHW4; ZNF634
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 5.7), endometrium (RPKM 5.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF280D in Genome Data Viewer
    Location:
    15q21.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (56630176..56733509, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (54433301..54536640, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (56922374..57025707, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene testis expressed 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9455 Neighboring gene uncharacterized LOC105370832 Neighboring gene Sharpr-MPRA regulatory region 15328 Neighboring gene meiosis specific nuclear structural 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6466 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40373 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40379 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40384 Neighboring gene MPRA-validated peak2351 silencer Neighboring gene acyl-CoA binding domain containing 7 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6467 Neighboring gene long intergenic non-protein coding RNA 3065 Neighboring gene TCF12 divergent transcript

    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. A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1. Buonincontri R, et al. Behav Genet, 2011 Jan. PMID 20798984
    2. Analysis of the human HP1 interactome reveals novel binding partners. Rosnoblet C, et al. Biochem Biophys Res Commun, 2011 Sep 23. PMID 21888893
    3. Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation. Nozawa RS, et al. Nat Cell Biol, 2010 Jul. PMID 20562864
    4. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Aug 31. PMID 10997877
    5. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Connaughton DM, et al. Am J Hum Genet, 2020 Oct 1. PMID 32891193, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    • MGC21637, MGC61687

    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 cis-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 DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 280D
    Names
    suppressor of hairy wing homolog 4
    zinc finger protein 634

    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_001002843.3 → NP_001002843.1  zinc finger protein 280D isoform 2

      See identical proteins and their annotated locations for NP_001002843.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks the first coding region used by variant 1 and is predicted to initiate translation from an in-frame downstream AUG, compared to variant 1. Variant 2 encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AB046804, AC090517, AC090518, BC040532
      Consensus CDS
      CCDS42041.1
      UniProtKB/TrEMBL
      A8K124
      Related
      ENSP00000454111.1, ENST00000559237.5
      Conserved Domains (2) summary
      sd00017
      Location:347 → 368
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13836
      Location:32 → 216
      DUF4195; Domain of unknown function (DUF4195)

    2. NM_001002844.3 → NP_001002844.1  zinc finger protein 280D isoform 3

      See identical proteins and their annotated locations for NP_001002844.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks multiple 3' exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1. Variants 3 and 5 encode the same protein (isoform 3).
      Source sequence(s)
      AC090517, AC090518, BC064359
      Consensus CDS
      CCDS58364.1
      UniProtKB/Swiss-Prot
      Q6N043
      Related
      ENSP00000453706.1, ENST00000558320.5
      Conserved Domains (1) summary
      pfam13836
      Location:45 → 127
      DUF4195; Domain of unknown function (DUF4195)

    3. NM_001288588.2 → NP_001275517.1  zinc finger protein 280D isoform 1

      See identical proteins and their annotated locations for NP_001275517.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 encode the same protein (isoform 1).
      Source sequence(s)
      AC090518, BC040532, BC136412
      Consensus CDS
      CCDS32245.1
      UniProtKB/Swiss-Prot
      A1L495, B2RMT6, Q6MZM6, Q6N043, Q6N085, Q6P2R6, Q7Z6J5, Q9H0U5, Q9HCI8, Q9NXS0
      UniProtKB/TrEMBL
      A8K124
      Conserved Domains (2) summary
      sd00017
      Location:360 → 381
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13836
      Location:45 → 229
      DUF4195; Domain of unknown function (DUF4195)

    4. NM_001288589.2 → NP_001275518.1  zinc finger protein 280D isoform 3

      See identical proteins and their annotated locations for NP_001275518.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks multiple exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1. Variants 3 and 5 encode the same protein (isoform 3).
      Source sequence(s)
      AC090517, AC090518, BC064359, CX788386
      Consensus CDS
      CCDS58364.1
      UniProtKB/Swiss-Prot
      Q6N043
      Conserved Domains (1) summary
      pfam13836
      Location:45 → 127
      DUF4195; Domain of unknown function (DUF4195)

    5. NM_017661.4 → NP_060131.2  zinc finger protein 280D isoform 1

      See identical proteins and their annotated locations for NP_060131.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 4 encode the same protein (isoform 1).
      Source sequence(s)
      AC090518, BC040532, BC130451
      Consensus CDS
      CCDS32245.1
      UniProtKB/Swiss-Prot
      A1L495, B2RMT6, Q6MZM6, Q6N043, Q6N085, Q6P2R6, Q7Z6J5, Q9H0U5, Q9HCI8, Q9NXS0
      UniProtKB/TrEMBL
      A8K124
      Related
      ENSP00000267807.7, ENST00000267807.12
      Conserved Domains (2) summary
      sd00017
      Location:360 → 381
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13836
      Location:45 → 229
      DUF4195; Domain of unknown function (DUF4195)

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      56630176..56733509 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      54433301..54536640 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6N043.3 GenPept UniProtKB/Swiss-Prot:Q6N043

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