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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
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Genomic context

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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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