Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9640
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger protein 592
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZNF592
Synonyms (NCBI Gene) Gene synonyms aliases
CAMOS, SCAR5
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.3
Summary Summary of gene provided in NCBI Entrez 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 20
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT047653 hsa-miR-10a-5p CLASH 23622248
MIRT045934 hsa-miR-125b-5p CLASH 23622248
MIRT648337 hsa-miR-148b-5p HITS-CLIP 23824327
MIRT648336 hsa-miR-6874-3p HITS-CLIP 23824327
MIRT648335 hsa-miR-4277 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003700 Function DNA-binding transcription factor activity NAS 34673265
GO:0005515 Function Protein binding IPI 25416956
GO:0005634 Component Nucleus IEA
GO:0006355 Process Regulation of DNA-templated transcription IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613624 28986 ENSG00000166716
Protein
UniProt ID Q92610
Protein name Zinc finger protein 592
Protein function May be involved in transcriptional regulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 1013 1036 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 1043 1069 Zinc finger, C2H2 type Domain
PF16622 zf-C2H2_11 1149 1177 zinc-finger C2H2-type Domain
Tissue specificity 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 tis
Sequence
MGDMKTPDFDDLLAAFDIPDPTSLDAKEAIQTPSEENESPLKPPGICMDESVSLSHSGSA
PDVPAVSVIVKNTSRQESFEAEKDHITPSLLHNGFRGSDLPPDPHNCGKFDSTFMNGDSA
RSFPGKLEPPKSEPLPTFNQFSPISSPEPEDPIKDNGFGIKPKHSDSYFPPPLGCGAVGG
PVLEALAKFPVPELHMFDHFCKKEPKPEPLPLGSQQEHEQSGQNTVEPHKDPDATRFFGE
ALEFNSHPSNSIGESKGLARELGTCSSVPPRQRLKPAHSKLSSCVAALVALQAKRVASVT
KEDQPGHTKDLSGPTKESSKGSPKMPKSPKSPRSPLEATRKSIKPSDSPRSICSDSSSKG
SPSVAASSPPAIPKVRIKTIKTSSGEIKRTVTRILPDPDDPSKSPVGSPLGSAIAEAPSE
MPGDEVPVEEHFPEAGTNSGSPQGARKGDESMTKASDSSSPSCSSGPRVPKGAAPGSQTG
KKQQSTALQASTLAPANLLPKAVHLANLNLVPHSVAASVTAKSSVQRRSQPQLTQMSVPL
VHQVKKAAPLIVEVFNKVLHSSNPVPLYAPNLSPPADSRIHVPASGYCCLECGDAFALEK
SLSQHYGRRSVHIEVLCTLCSKTLLFFNKCSLLRHARDHKSKGLVMQCSQLLVKPISADQ
MFVSAPVNSTAPAAPAPSSSPKHGLTSGSASPPPPALPLYPDPVRLIRYSIKCLECHKQM
RDYMVLAAHFQRTTEETEGLTCQVCQMLLPNQCSFCAHQRIHAHKSPYCCPECGVLCRSA
YFQTHVKENCLHYARKVGYRCIHCGVVHLTLALLKSHIQERHCQVFHKCAFCPMAFKTAS
STADHSATQHPTQPHRPSQLIYKCSCEMVFNKKRHIQQHFYQNVSKTQVGVFKCPECPLL
FVQKPELMQHVKSTHGVPRNVDELSSLQSSADTSSSRPGSRVPTEPPATSVAARSSSLPS
GRWGRPEAHRRVEARPRLRNTGWTCQECQEWVPDRESYVSHMKKSHGRTLKRYPCRQCEQ
SFHTPNSLRKHIRNNH
DTVKKFYTCGYCTEDSPSFPRPSLLESHISLMHGIRNPDLSQTS
KVKPPGGHSPQVNHLKRPVSGVGDAPGTSNGATVSSTKRHKSLFQCAKCSFATDSGLEFQ
SHIPQHQVDSSTAQCLLCGLCYTSASSLSRHLFIVHKVRDQEEEEEEEAAAAEMAVEVAE
PEEGSGEEVPMETRENGLEECAGEPLSADPEARRLLGPAPEDDGGHNDHSQPQASQDQDS
HTLSPQV
Sequence length 1267
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar I disorder N/A N/A GWAS
Galloway-Mowat Syndrome galloway-mowat syndrome 1 N/A N/A ClinVar
Heart Failure Heart failure N/A N/A GWAS
Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cerebellar Ataxia Associate 20531441
Galloway Mowat syndrome Associate 20531441
Intellectual Disability Associate 20531441
Optic Atrophy Associate 20531441
Skin Abnormalities Associate 20531441