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ZNF592 zinc finger protein 592 [ Homo sapiens (human) ]

Gene ID: 9640, updated on 4-Dec-2022

Summary

Official Symbol
ZNF592provided by HGNC
Official Full Name
zinc finger protein 592provided by HGNC
Primary source
HGNC:HGNC:28986
See related
Ensembl:ENSG00000166716 MIM:613624; AllianceGenome:HGNC:28986
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
CAMOS; SCAR5
Summary
This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in testis (RPKM 8.9), ovary (RPKM 8.2) and 25 other tissues See more
Orthologs
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Genomic context

See ZNF592 in Genome Data Viewer
Location:
15q25.3
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (84748592..84806445)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (82500980..82558805)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85291823..85349676)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene neuromedin B Neighboring gene SEC11 homolog A, signal peptidase complex subunit Neighboring gene alpha kinase 3 Neighboring gene skeletal muscle cis-regulatory module overlapping ALPK3 Neighboring gene small nucleolar RNA SNORA25

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

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2021-10-14)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2021-10-14)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Genome-wide association analysis of age-at-onset in Alzheimer's disease.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0211, MGC138437, MGC138439

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables PH domain binding IEA
Inferred from Electronic Annotation
more info
 
enables insulin receptor substrate 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 negative regulation of insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

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_028094.2 RefSeqGene

    Range
    5006..62859
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014630.3NP_055445.2  zinc finger protein 592

    See identical proteins and their annotated locations for NP_055445.2

    Status: REVIEWED

    Source sequence(s)
    AA835974, AC012291, BG757479, BQ217254, D86966
    Consensus CDS
    CCDS32317.1
    UniProtKB/Swiss-Prot
    Q504Y9, Q92610
    Related
    ENSP00000452877.2, ENST00000560079.7
    Conserved Domains (3) summary
    sd00017
    Location:742762
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:9851006
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam16622
    Location:11491177
    zf-C2H2_11; zinc-finger C2H2-type

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    84748592..84806445
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254996.4XP_005255053.1  zinc finger protein 592 isoform X1

    See identical proteins and their annotated locations for XP_005255053.1

    UniProtKB/Swiss-Prot
    Q504Y9, Q92610
    Related
    ENSP00000299927.3, ENST00000299927.4
    Conserved Domains (3) summary
    sd00017
    Location:742762
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:9851006
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam16622
    Location:11491177
    zf-C2H2_11; zinc-finger C2H2-type
  2. XM_011522246.3XP_011520548.1  zinc finger protein 592 isoform X1

    See identical proteins and their annotated locations for XP_011520548.1

    UniProtKB/Swiss-Prot
    Q504Y9, Q92610
    Conserved Domains (3) summary
    sd00017
    Location:742762
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:9851006
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam16622
    Location:11491177
    zf-C2H2_11; zinc-finger C2H2-type
  3. XM_011522247.3XP_011520549.1  zinc finger protein 592 isoform X1

    See identical proteins and their annotated locations for XP_011520549.1

    UniProtKB/Swiss-Prot
    Q504Y9, Q92610
    Conserved Domains (3) summary
    sd00017
    Location:742762
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:9851006
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam16622
    Location:11491177
    zf-C2H2_11; zinc-finger C2H2-type

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    82500980..82558805
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)