ZNF592 Gene (Protein Coding)

Zinc Finger Protein 592

GC15P084751
GIFtS:
37
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] See more...

Aliases for ZNF592 Gene

Aliases for ZNF592 Gene

  • Zinc Finger Protein 592 2 3 4 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 Galloway-Mowat Syndrome 1 and Spinocerebellar Ataxia Autosomal Recessive 5. An important paralog of this gene is ZNF687.

UniProtKB/Swiss-Prot Summary for ZNF592 Gene

Additional gene information for ZNF592 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF592 Gene

Genomics for ZNF592 Gene

GeneHancer (GH) Regulatory Elements for ZNF592 Gene

Promoters and enhancers for ZNF592 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF592 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF592

Top Transcription factor binding sites by QIAGEN in the ZNF592 gene promoter:
  • CP2
  • E47
  • HNF-4alpha1
  • Msx-1
  • STAT5A
  • Tal-1
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for ZNF592 Gene

Genomic Locations for ZNF592 Gene
chr15:84,748,561-84,806,445
(GRCh38/hg38)
Size:
57,885 bases
Orientation:
Plus strand
chr15:85,291,818-85,349,663
(GRCh37/hg19)
Size:
57,846 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for ZNF592 Gene

Proteins for ZNF592 Gene

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

    Protein Symbol:
    Q92610-ZN592_HUMAN
    Recommended name:
    Zinc finger protein 592
    Protein Accession:
    Q92610
    Secondary Accessions:
    • Q2M1T2
    • Q504Y9

    Protein attributes for ZNF592 Gene

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

neXtProt entry for ZNF592 Gene

Protein Expression for ZNF592 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 & Families for ZNF592 Gene

Gene Families for ZNF592 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF592 Gene

Blocks:
  • C2H2-type zinc finger signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF592 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 592 (ZN592_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92610

UniProtKB/Swiss-Prot:

ZN592_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
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

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  2. CRISPR
  3. miRNA
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  5. Clone
  6. Cell Line

Molecular function for ZNF592 Gene

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

Phenotypes From GWAS Catalog for ZNF592 Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF592

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

Nucleus.

Subcellular locations from

COMPARTMENTS
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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

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

PathCards logo

SuperPathways for ZNF592 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF592 Gene

None

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

Drugs & Compounds for ZNF592 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ZNF592 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ZNF592 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF592

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

No ASD Table

Relevant External Links for ZNF592 Gene

GeneLoc Exon Structure for
ZNF592

Expression for ZNF592 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF592 Gene

mRNA expression in normal human tissues for ZNF592 Gene
mRNA expression by BioGPS for ZNF592 GenemRNA expression by GTEx 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, MaxQB, and MOPED for ZNF592 Gene



Protein tissue co-expression partners for ZNF592 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF592

SOURCE GeneReport for Unigene cluster for ZNF592 Gene:

Hs.79347

mRNA Expression by UniProt/SwissProt for ZNF592 Gene:

Q92610-ZN592_HUMAN
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
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • skull
Thorax:
  • heart
  • heart valve
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • prostate
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with ZNF592: view

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
chimpanzee
(Pan troglodytes)
 Mammalia ZNF592 31 30
  • 99.68 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ZNF592 31 30
  • 89.81 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Zfp592 30
  • 87.57 (n)
mouse
(Mus musculus)
 Mammalia Zfp592 17 31 30
  • 87.21 (n)
cow
(Bos Taurus)
 Mammalia ZNF592 31 30
  • 86.54 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ZNF592 31
  • 69 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 65 (a)
 OneToMany
-- 31
  • 36 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves ZNF592 31 30
  • 65.78 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ZNF592 31
  • 58 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia znf592 30
  • 60.1 (n)
Str.9091 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC68936 30
zebrafish
(Danio rerio)
 Actinopterygii znf592 31 30
  • 54.82 (n)
 OneToOne
wufj94a04 30
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 23 (a)
 OneToMany
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

ENSEMBL:
Gene Tree for ZNF592 (if available)
TreeFam:
Gene Tree for ZNF592 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF592: view image

Paralogs for ZNF592 Gene

Paralogs for ZNF592 Gene

(1) SIMAP similar genes for ZNF592 Gene using alignment to 3 proteins:

  • ZN592_HUMAN
  • H0YM74_HUMAN
  • L8ECE9_HUMAN

Pseudogenes.org Pseudogenes for ZNF592 Gene

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

Variants for ZNF592 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF592 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
587477 Uncertain Significance: Galloway-Mowat syndrome 1 84,784,836(+) C/T MISSENSE_VARIANT
rs1211858750 Uncertain Significance: Galloway-Mowat syndrome 1 84,798,469(+) G/A MISSENSE_VARIANT
rs143880466 Uncertain Significance: not specified 84,784,293(+) C/T SYNONYMOUS_VARIANT
rs150829393 Uncertain Significance: Galloway-Mowat syndrome 1. - 84,799,209(+) G/Ap.Gly1046Arg MISSENSE_VARIANT
rs2241645 Benign/Likely Benign: Galloway-Mowat syndrome 1; not specified 84,790,722(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ZNF592 Gene

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)

Additional Variant Information for ZNF592 Gene

Human Gene Mutation Database (HGMD)
ZNF592
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF592

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

Disorders for ZNF592 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
galloway-mowat syndrome 1
  • gamos1
spinocerebellar ataxia autosomal recessive 5
  • camos
galloway-mowat syndrome
  • microcephaly, hiatal hernia, and nephrotic syndrome
autosomal recessive cerebellar ataxia
  • arca
cervical adenosquamous carcinoma
  • adenosquamous carcinoma of cervix
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZNF592

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 (European journal of human genetics : EJHG 2010) 2 3 4 54
  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 research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 54
  3. Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest. (PMID: 20360844) Arking DE … Chugh SS (PloS one 2010) 3 41 54
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

ExternalLinks

View latest publications for ZNF592 gene in Mastermind

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