ZNF592 Gene
protein-coding GIFtS: 49
GCID: GC15P085291
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zinc finger protein 592(Previous names: spinocerebellar ataxia, autosomal recessive 5 )
(Previous symbol: SCAR5)
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Aliases
for ZNF592 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Zinc Finger Protein 5921 2 | | CAMOS1 2 5 | | SCAR51 2 5 | | KIAA02111 3 5 | | Spinocerebellar Ataxia, Autosomal Recessive 51 |
Export aliases for ZNF592 gene to outside databasesPrevious GC identifers: GC15P083022 GC15P083092 GC15P061393 |
Summaries
for ZNF592 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ZNF592:
This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved incerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia.(provided by RefSeq, Jan 2011)
UniProtKB/Swiss-Prot: ZN592_HUMAN, Q92610Function: May be involved in transcriptional regulation
|
Genomic Views
for ZNF592 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000015.9 NC_018926.1 NT_010274.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ZNF592 gene promoter:
USF1 Tal-1 USF2 STAT5A USF-1:USF-2 HNF-4alpha1 E47 CP2 USF-1 Msx-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for ZNF592
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF592 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q25.3 Ensembl cytogenetic band: 15q25.3 HGNC cytogenetic band: 15q25.2ZNF592 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15P085291: view genomic region
(about GC identifiers)
Start:
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85,291,818 bp from pter |
End:
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85,349,663 bp from pter |
Size:
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57,846 bases |
Orientation:
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plus strand |
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Proteins
for ZNF592 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ZN592_HUMAN, Q92610 (See
protein sequence)Recommended Name: Zinc finger protein 592 Size: 1267 amino acids; 137528 Da
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=BAA13202.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q2M1T2 Q504Y9Explore the universe of human proteins at neXtProt for ZNF592: NX_Q92610
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q92610
ZNF592 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_055445.2
ENSEMBL proteins: ENSP00000452877 ENSP00000453491 ENSP00000299927
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
ZNF592 for ontologies About GeneDecksing
ZNF592 Antibody Products:
Assay Products for ZNF592: |
Protein
Domains /
Families
for ZNF592 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ZNF592 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q92610ProtoNet protein and cluster: Q92610 1 Blocks protein family: IPB007086 C2H2-type zinc finger signature
UniProtKB/Swiss-Prot: ZN592_HUMAN, Q92610Similarity: Belongs to the krueppel C2H2-type zinc-finger protein familySimilarity: Contains 13 C2H2-type zinc fingers |
Function
for ZNF592 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ZN592_HUMAN, Q92610Function: May be involved in transcriptional regulation
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ZNF592 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ZNF592
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF592 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
ZNF592 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for ZNF592:
|
Pathways & Interactions
for ZNF592 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ZNF592
STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)
5/9 Interacting proteins for ZNF592 (Q926102, 3 ENSP000002999274) via UniProtKB, MINT, STRING, and/or I2D (see all 9)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006351 | transcription, DNA-dependent |
IEA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- | | GO:0008219 | cell death |
IEA | -- |
ZNF592 for ontologies About GeneDecksing
|
Drugs & Compounds
for ZNF592 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ZNF592
Search CenterWatch for drugs/clinical trials and news about ZNF592 / ZN592
|
Transcripts
for ZNF592 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ZNF592 gene: NM_014630.2 Unigene Cluster for ZNF592: Zinc finger protein 592 Hs.79347 [show with all ESTs]Unigene Representative Sequence: NM_0146303 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000560079 ENST00000559607 ENST00000299927(uc002bld.3 uc010upb.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ZNF592 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ZNF592
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ZNF592 (NM_014630) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ZNF592 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZNF592 |
Additional cDNA sequence: AK090507.1 BC040038.1 BC094688.1 BC112232.1 BC112234.1 BC143600.1 D86966.1 9 DOTS entries: DT.100022507 DT.445822 DT.100782552 DT.121096142 DT.442219 DT.95375528 DT.121036820 DT.121036892 DT.95273996 24/175 AceView cDNA sequences (see all 175): BQ879353 AI190273 BQ217254 BU786070 CD514187 BM703507 AA368478 BU622050 BU553418 BU608955 AI571121 F10045 BF589169 CR590370 F29857 BQ878756 T34974 BM128585 AA039358 BM711452 AW169357 D86966 AI359484 BE883736
GeneLoc Exon Structure
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Expression
for ZNF592 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ZNF592 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See ZNF592 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ZNF592
SOURCE GeneReport for Unigene cluster: Hs.79347
UniProtKB/Swiss-Prot: ZN592_HUMAN, Q92610Tissue specificity: Widely expressed, with highest levels in skeletal muscle. Expressed throughout the central nervoussystem, including in the cerebellum and cerebellar vermis, with higher expression in the substantia nigra. Widelyexpressed in fetal tissues
SABiosciences Custom PCR Arrays for ZNF592
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ZNF592
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ZNF592 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZNF592 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZNF592 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF592 |
Orthologs
for ZNF592 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for ZNF592 gene from 6/15 species (see all 15) About this table
ENSEMBL Gene Tree for ZNF592 (if available)
TreeFam Gene Tree for ZNF592 (if available) |
Paralogs
for ZNF592 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ZNF592 gene
- ZNF6872 ZNF5322
1 SIMAP similar gene for ZNF592 using alignment to 3 protein entries: ZN592_HUMAN (see all proteins):ZNF532
ZNF592 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for ZNF592
PGOHUM00000234975
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Genomic Variants
for ZNF592 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ZNF592 (85291818 - 85349663 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for ZNF592
2 CNVs: 3974 72341
Human Gene Mutation Database (HGMD): ZNF592
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ZNF592 |
|
Disorders
/ Diseases
for ZNF592 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ZNF592 for disorders About GeneDecksing
OMIM gene information: 613624
OMIM disorders: 606937
UniProtKB/Swiss-Prot: ZN592_HUMAN, Q92610
Defects in ZNF592 are the cause of spinocerebellar ataxia autosomal recessive type 5 (SCAR5) [MIM:606937].Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients showprogressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degenerationof 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, speechdefect, abnormal osmiophilic pattern of skin vessels and cerebellar atrophy
11  diseases for ZNF592: About MalaCardsspinocerebellar ataxia spinocerebellar ataxia autosomal recessive 5 ataxia short stature
optic atrophy cerebellar ataxia spastic ataxia spasticity
microcephaly hepatocellular carcinoma carcinoma
Human Genome Epidemiology (HuGE) Navigator: ZNF592 (1 document)
Export disorders for ZNF592 gene to outside databases
|
Publications
for ZNF592 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ZNF592 gene, integrated from 9 sources (see all 21):
(articles sorted by number of sources associating them with ZNF592) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- CAMOS, a nonprogressive, autosomal recessive, congeni tal cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. (PubMed id 20531441)1, 2, 3 Nicolas E....Delague V. (2010)
- 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. (PubMed id 9039502)1, 2, 3 Nagase T....Nomura N. (1996)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- 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. (PubMed id 12030328)1, 3 Delague V....Claustres M. (2002)
- Genome-wide association analysis of age-at-onset in Al zheimer's disease. (PubMed id 22005931)1 Kamboh M.I....Lopez O.L. (2012)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- The Brd4 extraterminal domain confers transcription a ctivation independent of pTEFb by recruiting multiple proteins, including NSD3. (PubMed id 21555454)1 Rahman S....Howley P.M. (2011)
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
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External Searches for ZNF592 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ZNF592 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ZNF592 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing ZNF592 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ZNF592 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ZNF592 gene:
Search GeneIP for patents involving ZNF592
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ZNF592 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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variant library, vector shuttling | | | OriGene Custom Antibody Services for ZNF592 | | OriGene Custom Protein Services for ZNF592 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ZNF592 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ZNF592 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF592 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ZNF592 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZNF592 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZNF592 |
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 | | | ZNF592 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF592 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZNF592 |
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