InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ZNF592

Summary

InnateDB Protein

IDBP-27747.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ZNF592

Protein Name

zinc finger protein 592

Synonyms

CAMOS; SCAR5;

Species

Homo sapiens

Ensembl Protein

ENSP00000299927

InnateDB Gene

IDBG-27745 (ZNF592)

Protein Structure

UniProt Annotation

Function

May be involved in transcriptional regulation.

Subcellular Localization

Nucleus {ECO:0000305}.

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.

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}.

Comments

Interactions

Number of Interactions

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.