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

Gene ID: 58499, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:21684
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
mouse all
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Genomic context

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Location:
9q31.2
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (106860158..107013634)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (119036267..119189919)
105.20220307 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 ATAC-STARR-seq lymphoblastoid active region 28748 Neighboring gene uncharacterized LOC105376204 Neighboring gene RNA, 5S ribosomal pseudogene 292 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:109633482-109634681 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:109640709-109641456 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:109654807-109655306 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:109678392-109679591 Neighboring gene uncharacterized LOC340512 Neighboring gene ribosomal protein L7a pseudogene 44 Neighboring gene NANOG hESC enhancer GRCh37_chr9:109769611-109770112 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:109812053-109812571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20155 Neighboring gene APAF1 interacting protein pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:109892664-109893478 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:109893479-109894291 Neighboring gene importin subunit alpha-1-like

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. Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462. Brady L, et al. Mol Genet Genomic Med, 2023 Mar. PMID 36461789, Free PMC Article
  2. Weiss-Kruszka Syndrome. Adam MP, et al. , 1993. PMID 31670927
  3. Phenotype delineation of ZNF462 related syndrome. Kruszka P, et al. Am J Med Genet A, 2019 Oct. PMID 31361404, Free PMC Article
  4. ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder. Cosemans N, et al. Eur J Med Genet, 2018 Jul. PMID 29427787
  5. Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. Weiss K, et al. Eur J Hum Genet, 2017 Aug. PMID 28513610, Free PMC Article

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462.
    Title: Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462.
  2. a multiple congenital anomaly syndrome associated with haploinsufficiency of ZNF462 that has distinct clinical characteristics and facial features, is reported.
    Title: Phenotype delineation of ZNF462 related syndrome.
  3. In the current study we describe a patient with a syndromic form of autism spectrum disorder and intellectual disability characterized by metopic craniosynostosis, ptosis and corpus callosum dysgenesis most likely caused by ZNF462 haploinsufficiency. The possible contribution of the disruption of KLF12 by one of the translocation breakpoints remains unclear.
    Title: ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.
  4. Loss of function variants in ZNF462 were identified in patients with ptosis, metopic ridging, craniosynostosis, dysgenesis of the corpus callosum, and developmental delay.
    Title: Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.
  5. Zinc finger protein 462 (ZNF462) is the first human O-GlcNAc-6-phosphate modified protein.
    Title: Discovery of O-GlcNAc-6-phosphate modified proteins in large-scale phosphoproteomics data.
  6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
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

Associated conditions

Description Tests
Weiss-kruszka syndrome
MedGen: C5231429 OMIM: 618619 GeneReviews: Weiss-Kruszka Syndrome
Compare labs

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

EBI GWAS Catalog

Description
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
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 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_001347997.2 → NP_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:1162 → 1182
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:1218 → 1243
    zf-H2C2_5; C2H2-type zinc-finger domain

  2. NM_021224.6 → NP_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
    Q5T0T4, Q8N408, Q96JM2
    UniProtKB/TrEMBL
    Q63HJ5
    Related
    ENSP00000277225.5, ENST00000277225.10
    Conserved Domains (1) summary
    sd00017
    Location:2027 → 2047
    ZF_C2H2; C2H2 Zn finger [structural motif]

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    106860158..107013634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423662.1 → XP_047279618.1  zinc finger protein 462 isoform X1

  2. XM_047423672.1 → XP_047279628.1  zinc finger protein 462 isoform X3

    UniProtKB/Swiss-Prot
    Q5T0T4, Q8N408, Q96JM2

  3. XM_047423680.1 → XP_047279636.1  zinc finger protein 462 isoform X4

  4. XM_047423685.1 → XP_047279641.1  zinc finger protein 462 isoform X6

  5. XM_006717212.5 → XP_006717275.1  zinc finger protein 462 isoform X1

    See identical proteins and their annotated locations for XP_006717275.1

    UniProtKB/TrEMBL
    Q63HJ5
    Conserved Domains (2) summary
    sd00017
    Location:2088 → 2108
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:2144 → 2169
    zf-H2C2_5; C2H2-type zinc-finger domain

  6. XM_047423669.1 → XP_047279625.1  zinc finger protein 462 isoform X2

  7. XM_047423676.1 → XP_047279632.1  zinc finger protein 462 isoform X3

    UniProtKB/Swiss-Prot
    Q5T0T4, Q8N408, Q96JM2

  8. XM_047423681.1 → XP_047279637.1  zinc finger protein 462 isoform X4

  9. XM_047423683.1 → XP_047279639.1  zinc finger protein 462 isoform X5

  10. XM_047423684.1 → XP_047279640.1  zinc finger protein 462 isoform X6

  11. XM_006717209.5 → XP_006717272.1  zinc finger protein 462 isoform X1

    See identical proteins and their annotated locations for XP_006717272.1

    UniProtKB/TrEMBL
    Q63HJ5
    Conserved Domains (2) summary
    sd00017
    Location:2088 → 2108
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:2144 → 2169
    zf-H2C2_5; C2H2-type zinc-finger domain

  12. XM_047423668.1 → XP_047279624.1  zinc finger protein 462 isoform X2

  13. XM_047423679.1 → XP_047279635.1  zinc finger protein 462 isoform X4

  14. XM_047423682.1 → XP_047279638.1  zinc finger protein 462 isoform X5

  15. XM_047423661.1 → XP_047279617.1  zinc finger protein 462 isoform X1

  16. XM_006717215.5 → XP_006717278.1  zinc finger protein 462 isoform X2

    UniProtKB/TrEMBL
    Q63HJ5
    Conserved Domains (1) summary
    sd00017
    Location:2087 → 2107
    ZF_C2H2; C2H2 Zn finger [structural motif]

  17. XM_006717216.5 → XP_006717279.1  zinc finger protein 462 isoform X3

    See identical proteins and their annotated locations for XP_006717279.1

    UniProtKB/Swiss-Prot
    Q5T0T4, Q8N408, Q96JM2
    UniProtKB/TrEMBL
    Q63HJ5
    Conserved Domains (1) summary
    sd00017
    Location:2027 → 2047
    ZF_C2H2; C2H2 Zn finger [structural motif]

  18. XM_047423663.1 → XP_047279619.1  zinc finger protein 462 isoform X1

  19. XM_047423664.1 → XP_047279620.1  zinc finger protein 462 isoform X1

  20. XM_047423677.1 → XP_047279633.1  zinc finger protein 462 isoform X3

    UniProtKB/Swiss-Prot
    Q5T0T4, Q8N408, Q96JM2

  21. XM_017014998.3 → XP_016870487.1  zinc finger protein 462 isoform X6

    Conserved Domains (2) summary
    sd00017
    Location:1162 → 1182
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:1218 → 1243
    zf-H2C2_5; C2H2-type zinc-finger domain

  22. XM_017014996.3 → XP_016870485.1  zinc finger protein 462 isoform X1

    UniProtKB/TrEMBL
    Q63HJ5
    Conserved Domains (2) summary
    sd00017
    Location:2088 → 2108
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:2144 → 2169
    zf-H2C2_5; C2H2-type zinc-finger domain

  23. XM_047423670.1 → XP_047279626.1  zinc finger protein 462 isoform X2

  24. XM_047423673.1 → XP_047279629.1  zinc finger protein 462 isoform X3

    UniProtKB/Swiss-Prot
    Q5T0T4, Q8N408, Q96JM2

  25. XM_024447629.1 → XP_024303397.1  zinc finger protein 462 isoform X1

    UniProtKB/TrEMBL
    Q63HJ5
    Conserved Domains (2) summary
    sd00017
    Location:2088 → 2108
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:2144 → 2169
    zf-H2C2_5; C2H2-type zinc-finger domain

  26. XM_047423675.1 → XP_047279631.1  zinc finger protein 462 isoform X3

    UniProtKB/Swiss-Prot
    Q5T0T4, Q8N408, Q96JM2

  27. XM_017014997.3 → XP_016870486.1  zinc finger protein 462 isoform X1

    UniProtKB/TrEMBL
    Q63HJ5
    Conserved Domains (2) summary
    sd00017
    Location:2088 → 2108
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:2144 → 2169
    zf-H2C2_5; C2H2-type zinc-finger domain

  28. XM_047423671.1 → XP_047279627.1  zinc finger protein 462 isoform X2

  29. XM_047423678.1 → XP_047279634.1  zinc finger protein 462 isoform X3

    UniProtKB/Swiss-Prot
    Q5T0T4, Q8N408, Q96JM2

  30. XM_047423667.1 → XP_047279623.1  zinc finger protein 462 isoform X1

  31. XM_047423666.1 → XP_047279622.1  zinc finger protein 462 isoform X1

  32. XM_047423674.1 → XP_047279630.1  zinc finger protein 462 isoform X3

    UniProtKB/Swiss-Prot
    Q5T0T4, Q8N408, Q96JM2

  33. XM_047423665.1 → XP_047279621.1  zinc finger protein 462 isoform X1

  34. XM_006717211.5 → XP_006717274.1  zinc finger protein 462 isoform X1

    See identical proteins and their annotated locations for XP_006717274.1

    UniProtKB/TrEMBL
    Q63HJ5
    Conserved Domains (2) summary
    sd00017
    Location:2088 → 2108
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13909
    Location:2144 → 2169
    zf-H2C2_5; C2H2-type zinc-finger domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    119036267..119189919
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363457.1 → XP_054219432.1  zinc finger protein 462 isoform X3

  2. XM_054363438.1 → XP_054219413.1  zinc finger protein 462 isoform X1

  3. XM_054363447.1 → XP_054219422.1  zinc finger protein 462 isoform X2

  4. XM_054363464.1 → XP_054219439.1  zinc finger protein 462 isoform X6

  5. XM_054363460.1 → XP_054219435.1  zinc finger protein 462 isoform X4

  6. XM_054363462.1 → XP_054219437.1  zinc finger protein 462 isoform X5

  7. XM_054363451.1 → XP_054219426.1  zinc finger protein 462 isoform X3

  8. XM_054363435.1 → XP_054219410.1  zinc finger protein 462 isoform X1

  9. XM_054363465.1 → XP_054219440.1  zinc finger protein 462 isoform X6

  10. XM_054363459.1 → XP_054219434.1  zinc finger protein 462 isoform X4

  11. XM_054363434.1 → XP_054219409.1  zinc finger protein 462 isoform X1

  12. XM_054363445.1 → XP_054219420.1  zinc finger protein 462 isoform X2

  13. XM_054363458.1 → XP_054219433.1  zinc finger protein 462 isoform X4

  14. XM_054363461.1 → XP_054219436.1  zinc finger protein 462 isoform X5

  15. XM_054363456.1 → XP_054219431.1  zinc finger protein 462 isoform X3

  16. XM_054363446.1 → XP_054219421.1  zinc finger protein 462 isoform X2

  17. XM_054363450.1 → XP_054219425.1  zinc finger protein 462 isoform X3

  18. XM_054363436.1 → XP_054219411.1  zinc finger protein 462 isoform X1

  19. XM_054363439.1 → XP_054219414.1  zinc finger protein 462 isoform X1

  20. XM_054363440.1 → XP_054219415.1  zinc finger protein 462 isoform X1

  21. XM_054363448.1 → XP_054219423.1  zinc finger protein 462 isoform X2

  22. XM_054363452.1 → XP_054219427.1  zinc finger protein 462 isoform X3

  23. XM_054363463.1 → XP_054219438.1  zinc finger protein 462 isoform X6

  24. XM_054363443.1 → XP_054219418.1  zinc finger protein 462 isoform X1

  25. XM_054363454.1 → XP_054219429.1  zinc finger protein 462 isoform X3

  26. XM_054363437.1 → XP_054219412.1  zinc finger protein 462 isoform X1

  27. XM_054363449.1 → XP_054219424.1  zinc finger protein 462 isoform X2

  28. XM_054363455.1 → XP_054219430.1  zinc finger protein 462 isoform X3

  29. XM_054363444.1 → XP_054219419.1  zinc finger protein 462 isoform X1

  30. XM_054363453.1 → XP_054219428.1  zinc finger protein 462 isoform X3

  31. XM_054363442.1 → XP_054219417.1  zinc finger protein 462 isoform X1

  32. XM_054363441.1 → XP_054219416.1  zinc finger protein 462 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96JM2.3 GenPept UniProtKB/Swiss-Prot:Q96JM2

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