InnateDB Protein
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IDBP-598198.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ZNF592
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Protein Name
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zinc finger protein 592
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Synonyms
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CAMOS; SCAR5;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000452877
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InnateDB Gene
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IDBG-27745 (ZNF592)
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Protein Structure
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Function |
May be involved in transcriptional regulation.
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Subcellular Localization |
Nucleus {ECO:0000305}.
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Disease Associations |
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:0000269PubMed:20531441}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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. {ECO:0000269PubMed:20531441}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
10
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
5 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007087
Zinc finger, C2H2
IPR015880
Zinc finger, C2H2-like
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PFAM |
PF00096
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PRINTS |
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PIRSF |
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SMART |
SM00355
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TIGRFAMs |
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Modification |
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SwissProt |
Q92610
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PhosphoSite |
PhosphoSite-Q92610
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
9640
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UniGene |
Hs.79347
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RefSeq |
NP_055445
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HUGO |
HGNC:28986
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OMIM |
613624
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CCDS |
CCDS32317
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HPRD |
10339
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IMGT |
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EMBL |
BC094688
BC112232
BC112234
CH471101
D86966
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GenPept |
AAH94688
AAI12233
AAI12235
BAA13202
EAX01957
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