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ZNF462 zinc finger protein 462 [ Homo sapiens (human) ]

Gene ID: 58499, updated on 4-Jul-2021

Summary

Official Symbol
ZNF462provided by HGNC
Official Full Name
zinc finger protein 462provided by HGNC
Primary source
HGNC:HGNC:21684
See related
Ensembl:ENSG00000148143 MIM:617371
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
WSKA; ZFPIP; Zfp462
Summary
The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
Expression
Ubiquitous expression in testis (RPKM 2.5), thyroid (RPKM 2.5) and 23 other tissues See more
Orthologs
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Genomic context

See ZNF462 in Genome Data Viewer
Location:
9q31.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (106860154..107013634)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (109625447..109775915)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene COP1, E3 ubiquitin ligase pseudogene Neighboring gene uncharacterized LOC105376204 Neighboring gene RNA, 5S ribosomal pseudogene 292 Neighboring gene uncharacterized LOC340512 Neighboring gene ribosomal protein L7a pseudogene 44 Neighboring gene APAF1 interacting protein pseudogene Neighboring gene importin subunit alpha-1 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.
GeneReviews: Not available
Weiss-kruszka syndrome
MedGen: C5231429 OMIM: 618619 GeneReviews: Weiss-Kruszka Syndrome
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-01-16)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-01-16)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14960, FLJ45904, KIAA1803, DKFZp686B2325, DKFZp762N2316

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
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 chromatin organization IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA binding IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
zinc finger protein 462
Names
zinc finger PBX1-interacting 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.

Genomic

  1. NG_052913.1 RefSeqGene

    Range
    5070..155538
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001347997.2NP_001334926.1  zinc finger protein 462 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL512593, AL590362, F13685
    Conserved Domains (2) summary
    sd00017
    Location:11621182
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:12181243
    zf-H2C2_5; C2H2-type zinc-finger domain
  2. NM_021224.6NP_067047.4  zinc finger protein 462 isoform 1

    See identical proteins and their annotated locations for NP_067047.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL512593, BX648965, F13685
    Consensus CDS
    CCDS35096.1
    UniProtKB/Swiss-Prot
    Q96JM2
    UniProtKB/TrEMBL
    Q63HJ5
    Related
    ENSP00000277225.5, ENST00000277225.10
    Conserved Domains (1) summary
    sd00017
    Location:20272047
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    106860154..107013634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717212.4XP_006717275.1  zinc finger protein 462 isoform X1

    See identical proteins and their annotated locations for XP_006717275.1

    Conserved Domains (2) summary
    sd00017
    Location:20882108
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:21442169
    zf-H2C2_5; C2H2-type zinc-finger domain
  2. XM_006717209.4XP_006717272.1  zinc finger protein 462 isoform X1

    See identical proteins and their annotated locations for XP_006717272.1

    Conserved Domains (2) summary
    sd00017
    Location:20882108
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:21442169
    zf-H2C2_5; C2H2-type zinc-finger domain
  3. XM_017014996.2XP_016870485.1  zinc finger protein 462 isoform X1

    Conserved Domains (2) summary
    sd00017
    Location:20882108
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:21442169
    zf-H2C2_5; C2H2-type zinc-finger domain
  4. XM_006717215.4XP_006717278.1  zinc finger protein 462 isoform X2

    UniProtKB/Swiss-Prot
    Q96JM2
    Conserved Domains (1) summary
    sd00017
    Location:20872107
    ZF_C2H2; C2H2 Zn finger [structural motif]
  5. XM_024447629.1XP_024303397.1  zinc finger protein 462 isoform X1

    Conserved Domains (2) summary
    sd00017
    Location:20882108
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:21442169
    zf-H2C2_5; C2H2-type zinc-finger domain
  6. XM_006717216.4XP_006717279.1  zinc finger protein 462 isoform X3

    See identical proteins and their annotated locations for XP_006717279.1

    UniProtKB/Swiss-Prot
    Q96JM2
    Conserved Domains (1) summary
    sd00017
    Location:20272047
    ZF_C2H2; C2H2 Zn finger [structural motif]
  7. XM_006717218.4XP_006717281.1  zinc finger protein 462 isoform X4

    Conserved Domains (1) summary
    sd00017
    Location:12231243
    ZF_C2H2; C2H2 Zn finger [structural motif]
  8. XM_017014998.2XP_016870487.1  zinc finger protein 462 isoform X5

    Conserved Domains (2) summary
    sd00017
    Location:11621182
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:12181243
    zf-H2C2_5; C2H2-type zinc-finger domain
  9. XM_017014997.2XP_016870486.1  zinc finger protein 462 isoform X1

    Conserved Domains (2) summary
    sd00017
    Location:20882108
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:21442169
    zf-H2C2_5; C2H2-type zinc-finger domain
  10. XM_006717211.4XP_006717274.1  zinc finger protein 462 isoform X1

    See identical proteins and their annotated locations for XP_006717274.1

    Conserved Domains (2) summary
    sd00017
    Location:20882108
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:21442169
    zf-H2C2_5; C2H2-type zinc-finger domain
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