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Aliases for ZNF592 Gene

Aliases for ZNF592 Gene

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

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 Dyscalculia. An important paralog of this gene is ZNF532.

UniProtKB/Swiss-Prot for ZNF592 Gene

  • May be involved in transcriptional regulation.

No data available for CIViC summary , 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

Enhancers for ZNF592 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G084816 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.3 +72.8 72847 9.6 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B DMAP1 YY1 SLC30A9 CBX5 WDR73 ZNF592 ALPK3 NMB GOLGA6L5P ENSG00000200991 SLC28A1 GOLGA6L3 SEC11A ENSG00000259683
GH15G084832 1.6 Ensembl ENCODE dbSUPER 16.6 +89.4 89396 10.4 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF143 ZNF207 FOS NMB ALPK3 ZNF592 GOLGA6L5P GOLGA6L4 LINC00933 CSPG4P11 WDR73 SCAND2P ENSG00000259683
GH15G084954 1.4 Ensembl ENCODE dbSUPER 10 +206.9 206905 1.1 HDAC1 ELF3 CBX3 ARID4B SIN3A ZNF2 RAD21 RFX5 ZNF766 GLIS2 PDE8A ENSG00000200991 NMB WDR73 ZNF592 GC15P084976 HMGB1P43
GH15G084846 1.3 Ensembl ENCODE dbSUPER 10.4 +97.2 97240 0.4 HDGF CTCF CBX3 NFIB RAD21 ZKSCAN1 TEAD3 GATA3 POLR3A SCRT2 ALPK3 ZNF592 GC15P084852
GH15G084703 1.1 Ensembl ENCODE dbSUPER 10.7 -45.2 -45176 0.4 ZSCAN21 SCRT2 ZNF600 HNF4A RAD21 NR2F2 GABPA NMB WDR73 ZNF592 SEC11A ENSG00000259654
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZNF592 on UCSC Golden Path with GeneCards custom track

Promoters for ZNF592 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ZNF592 Gene

84,748,561 bp from pter
84,806,432 bp from pter
57,872 bases
Plus strand

Genomic View for ZNF592 Gene

Genes around ZNF592 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF592 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for ZNF592 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF592 Gene

No data available for DME Specific Peptides for ZNF592 Gene

Domains & Families for ZNF592 Gene

Gene Families for ZNF592 Gene

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



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

Human Phenotype Ontology for ZNF592 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Localization for ZNF592 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF592 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF592 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for ZNF592 Gene

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

Pathways & Interactions 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 --
genes like me logo Genes that share ontologies with ZNF592: view

No data available for Pathways by source and SIGNOR curated interactions for ZNF592 Gene

Drugs & Compounds for ZNF592 Gene

No Compound Related Data Available

Transcripts for ZNF592 Gene

Unigene Clusters for ZNF592 Gene

Zinc finger protein 592:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for ZNF592 Gene

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZNF592 Gene

Protein tissue co-expression partners for ZNF592 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZNF592 Gene:


SOURCE GeneReport for Unigene cluster for ZNF592 Gene:


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.

Evidence on tissue expression from TISSUES for ZNF592 Gene

  • Adrenal gland(5)
  • Nervous system(4.6)
  • Bone marrow(4.2)
  • Liver(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF592 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • skull
  • heart
  • heart valve
  • intestine
  • large intestine
  • small intestine
  • prostate
  • urinary bladder
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with ZNF592: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
(Pan troglodytes)
Mammalia ZNF592 34 35
  • 99.68 (n)
(Canis familiaris)
Mammalia ZNF592 34 35
  • 89.81 (n)
(Rattus norvegicus)
Mammalia Zfp592 34
  • 87.57 (n)
(Mus musculus)
Mammalia Zfp592 34 16 35
  • 87.21 (n)
(Bos Taurus)
Mammalia ZNF592 34 35
  • 86.54 (n)
(Monodelphis domestica)
Mammalia ZNF592 35
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 65 (a)
-- 35
  • 36 (a)
(Gallus gallus)
Aves ZNF592 34 35
  • 65.78 (n)
(Anolis carolinensis)
Reptilia ZNF592 35
  • 58 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia znf592 34
  • 60.1 (n)
Str.9091 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68936 34
(Danio rerio)
Actinopterygii znf592 34 35
  • 54.82 (n)
wufj94a04 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
Species where no ortholog for ZNF592 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs2241645 Likely benign 84,790,722(-) AGCAT(C/T)TGGCA nc-transcript-variant, reference, synonymous-codon
rs8182086 Likely benign 84,798,628(+) GTCAA(A/G)CCTCC nc-transcript-variant, reference, missense
rs143880466 Uncertain significance 84,784,293(+) TGCCC(C/T)TGGTC nc-transcript-variant, reference, synonymous-codon
rs150829393 Uncertain significance 84,799,209(+) CCTGC(A/G)GGTGA nc-transcript-variant, reference, missense
rs1000096954 -- 84,785,625(+) GTGTC(C/T)TTAAT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2672879 CNV deletion 23128226
esv2760049 CNV loss 17122850
esv29903 CNV loss 19812545
nsv1071230 CNV deletion 25765185
nsv517833 CNV gain 19592680

Variation tolerance for ZNF592 Gene

Residual Variation Intolerance Score: 3.04% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.10; 95.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF592 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for ZNF592 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ZNF592 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia autosomal recessive 5
  • camos
  • disorder of arithmetical skills
cervical adenosquamous carcinoma
  • adenosquamous carcinoma of cervix
galloway-mowat syndrome
  • galloway syndrome
autosomal recessive cerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ZNF592

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ZNF592: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF592 Gene

Publications for ZNF592 Gene

  1. 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 64
  2. 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 64
  3. Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest. (PMID: 20360844) Arking D.E. … Chugh S.S. (PLoS ONE 2010) 3 46 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  5. 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 64

Products for ZNF592 Gene

Sources for ZNF592 Gene

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