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ZNF626 zinc finger protein 626 [ Homo sapiens (human) ]

Gene ID: 199777, updated on 11-Apr-2024

Summary

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Official Symbol
ZNF626provided by HGNC
Official Full Name
zinc finger protein 626provided by HGNC
Primary source
HGNC:HGNC:30461
See related
Ensembl:ENSG00000188171 AllianceGenome:HGNC:30461
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
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 thyroid (RPKM 4.5), urinary bladder (RPKM 4.1) and 24 other tissues See more
Orthologs
all
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Genomic context

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Location:
19p12
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (20619939..20661571, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (20757899..20799374, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (20802745..20844377, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 78 pseudogene Neighboring gene uncharacterized LOC105372318 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:20796649-20796907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10458 Neighboring gene zinc finger protein 430-like Neighboring gene zinc finger protein 85 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. A protein-protein interaction network of transcription factors acting during liver cell proliferation. Gao J, et al. Genomics, 2008 Apr. PMID 18255255
  2. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. Del-Aguila JL, et al. Pharmacogenomics J, 2014 Feb. PMID 23400010, Free PMC Article
  3. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer. Vichas A, et al. Nat Commun, 2021 Aug 9. PMID 34373451, Free PMC Article
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See all (6) 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

EBI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
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

  • MGC104224

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
  

General protein information

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Preferred Names
zinc finger protein 626
Names
CTC-513N18.7

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_001076675.3 → NP_001070143.1  zinc finger protein 626 isoform 1

    See identical proteins and their annotated locations for NP_001070143.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC010636
    Consensus CDS
    CCDS42535.1
    UniProtKB/Swiss-Prot
    Q68DY1, Q8N8T4, Q96QM1
    Related
    ENSP00000469958.1, ENST00000601440.6
    Conserved Domains (5) summary
    smart00349
    Location:4 → 62
    KRAB; krueppel associated box
    COG5048
    Location:199 → 520
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:343 → 363
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:6 → 43
    KRAB; KRAB box
    pfam13465
    Location:215 → 240
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001412412.1 → NP_001399341.1  zinc finger protein 626 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents an alternate allele of variant 1 (NM_001076675.3) on T2T-CHM13v2.0 genome assembly. It includes a deletion in the 3' coding region resulting in a frameshift compared to variant 1. It encodes isoform 3, which has a different and longer C-terminus compared to isoform 1.
    Source sequence(s)
    CP068259
    UniProtKB/TrEMBL
    B9EK70

  3. NM_145297.4 → NP_660340.1  zinc finger protein 626 isoform 2

    See identical proteins and their annotated locations for NP_660340.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a distinct 3' CDS and 3' UTR, compared to variant 1. The resulting protein (isoform 2) has a shorter C-terminus and lacks the zinc finger domain, compared to isoform 1.
    Source sequence(s)
    AC010636, BC107803
    Consensus CDS
    CCDS32976.1
    UniProtKB/TrEMBL
    K7ES58
    Related
    ENSP00000291750.6, ENST00000291750.6
    Conserved Domains (1) summary
    smart00349
    Location:4 → 62
    KRAB; krueppel associated box

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    20619939..20661571 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    20757899..20799374 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q68DY1.2 GenPept UniProtKB/Swiss-Prot:Q68DY1

Gene LinkOut

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