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Aliases for ZNF592 Gene

Aliases for ZNF592 Gene

  • Zinc Finger Protein 592 2 3
  • KIAA0211 4 6
  • CAMOS 3 6
  • SCAR5 3 6
  • Spinocerebellar Ataxia, Autosomal Recessive 5 2

External Ids for ZNF592 Gene

Previous HGNC Symbols for ZNF592 Gene

  • SCAR5

Previous GeneCards Identifiers for ZNF592 Gene

  • GC15P083022
  • GC15P083092
  • GC15P085291
  • GC15P061393

Summaries for ZNF592 Gene

Entrez Gene Summary for ZNF592 Gene

  • 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]

GeneCards Summary for ZNF592 Gene

ZNF592 (Zinc Finger Protein 592) is a Protein Coding gene. Diseases associated with ZNF592 include spinocerebellar ataxia, autosomal recessive 5 and spinocerebellar ataxia. An important paralog of this gene is ZNF687.

UniProtKB/Swiss-Prot for ZNF592 Gene

  • May be involved in transcriptional regulation

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF592 Gene

Genomics for ZNF592 Gene

Regulatory Elements for ZNF592 Gene

Genomic Location for ZNF592 Gene

84,748,587 bp from pter
84,806,432 bp from pter
57,846 bases
Plus strand

Genomic View for ZNF592 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ZNF592 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF592 Gene

Proteins for ZNF592 Gene

  • Protein details for ZNF592 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zinc finger protein 592
    Protein Accession:
    Secondary Accessions:
    • Q2M1T2
    • Q504Y9

    Protein attributes for ZNF592 Gene

    1267 amino acids
    Molecular mass:
    137528 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA13202.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for ZNF592 Gene

Proteomics data for ZNF592 Gene at MOPED

Post-translational modifications for ZNF592 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF592 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZNF592 Gene

Domains for ZNF592 Gene

Gene Families for ZNF592 Gene

  • ZNF :Zinc fingers, C2H2-type

Protein Domains for ZNF592 Gene

Suggested Antigen Peptide Sequences for ZNF592 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q92610
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Contains 13 C2H2-type zinc fingers.
genes like me logo Genes that share domains with ZNF592: view

Function for ZNF592 Gene

Molecular function for ZNF592 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation

Gene Ontology (GO) - Molecular Function for ZNF592 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF592: view

Phenotypes for ZNF592 Gene

GenomeRNAi human phenotypes for ZNF592:
genes like me logo Genes that share phenotypes with ZNF592: view

Animal Model Products

CRISPR Products

miRNA for ZNF592 Gene

miRTarBase miRNAs that target ZNF592

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ZNF592

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ZNF592 Gene

Localization for ZNF592 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF592 Gene

Subcellular locations from

Jensen Localization Image for ZNF592 Gene COMPARTMENTS Subcellular localization image for ZNF592 gene
Compartment Confidence
nucleus 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ZNF592 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with ZNF592: view

Pathways for ZNF592 Gene

SuperPathways for ZNF592 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF592 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008219 cell death --
genes like me logo Genes that share ontologies with ZNF592: view

No data available for Pathways by source for ZNF592 Gene

Transcripts for ZNF592 Gene

Unigene Clusters for ZNF592 Gene

Zinc finger protein 592:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ZNF592

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF592 Gene

No ASD Table

Relevant External Links for ZNF592 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ZNF592 Gene

mRNA expression in normal human tissues for ZNF592 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for ZNF592 Gene

This gene is overexpressed in Blymphocyte (15.1), Peripheral blood mononuclear cells (14.5), CD8 Tcells (11.9), and Lymph node (6.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ZNF592 Gene

SOURCE GeneReport for Unigene cluster for ZNF592 Gene Hs.79347

mRNA Expression by UniProt/SwissProt for ZNF592 Gene

Tissue specificity: Widely expressed, with highest levels in skeletal muscle. Expressed throughout the central nervous system, including in the cerebellum and cerebellar vermis, with higher expression in the substantia nigra. Widely expressed in fetal tissues.
genes like me logo Genes that share expressions with ZNF592: view

Expression partners for ZNF592 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ZNF592 Gene

Orthologs for ZNF592 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF592 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ZNF592 35
  • 86.54 (n)
  • 87.74 (a)
ZNF592 36
  • 87 (a)
(Canis familiaris)
Mammalia ZNF592 35
  • 89.81 (n)
  • 91.45 (a)
ZNF592 36
  • 89 (a)
(Mus musculus)
Mammalia Zfp592 35
  • 87.21 (n)
  • 88.17 (a)
Zfp592 16
Zfp592 36
  • 86 (a)
(Pan troglodytes)
Mammalia ZNF592 35
  • 99.68 (n)
  • 99.84 (a)
ZNF592 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Zfp592 35
  • 87.57 (n)
  • 87.6 (a)
(Monodelphis domestica)
Mammalia ZNF592 36
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 65 (a)
-- 36
  • 36 (a)
(Gallus gallus)
Aves ZNF592 35
  • 65.78 (n)
  • 63.13 (a)
ZNF592 36
  • 58 (a)
(Anolis carolinensis)
Reptilia ZNF592 36
  • 58 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9091 35
znf592 35
  • 60.1 (n)
  • 58.06 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68936 35
(Danio rerio)
Actinopterygii wufj94a04 35
znf592 35
  • 54.82 (n)
  • 49.9 (a)
znf592 36
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
Species with no ortholog for ZNF592:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZNF592 Gene

Gene Tree for ZNF592 (if available)
Gene Tree for ZNF592 (if available)

Paralogs for ZNF592 Gene

Paralogs for ZNF592 Gene

Selected SIMAP similar genes for ZNF592 Gene using alignment to 3 proteins: Pseudogenes for ZNF592 Gene

genes like me logo Genes that share paralogs with ZNF592: view

Variants for ZNF592 Gene

Sequence variations from dbSNP and Humsavar for ZNF592 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs1719 -- 84,804,941(-) CTGCA(A/C)ATCGT utr-variant-3-prime
rs186267 -- 84,796,136(-) caagc(A/G)attct intron-variant
rs408032 -- 84,765,583(+) tgcca(A/G)actgg intron-variant
rs428322 -- 84,748,635(-) ggcca(A/G)agtct utr-variant-5-prime
rs449505 -- 84,748,748(-) ctcgg(G/T)cccgg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ZNF592 Gene

Variant ID Type Subtype PubMed ID
esv2672879 CNV Deletion 23128226
dgv770e1 CNV Complex 17122850
nsv517833 CNV Gain 19592680
esv29903 CNV Loss 19812545

Relevant External Links for ZNF592 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF592 Gene

Disorders for ZNF592 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for ZNF592 Gene in MalaCards »

(3) Diseases for ZNF592 Gene including...

(1) OMIM Diseases for ZNF592 Gene (613624)


  • Spinocerebellar ataxia, autosomal recessive, 5 (SCAR5) [MIM:606937]: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR5 patients show developmental delay, psychomotor retardation, proportionate short stature, cerebellar spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels and cerebellar atrophy. {ECO:0000269 PubMed:20531441}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZNF592

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ZNF592: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for ZNF592 Gene

Publications for ZNF592 Gene

  1. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T. … Nomura N. (DNA Res. 1996) 2 3 4
  2. CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. (PMID: 20531441) Nicolas E. … Delague V. (Eur. J. Hum. Genet. 2010) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family. (PMID: 12030328) Delague V. … Claustres M. (Neurogenetics 2002) 2 3
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4

Products for ZNF592 Gene

Sources for ZNF592 Gene

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