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ZNF592 - zinc finger protein 592 Gene

Also Known as CAMOS; SCAR5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9640

About ZNF592

Cytogenetic location: 15q25.3 Genomic coordinates (GRCh38): 15:84,748,592-84,806,445 (from NCBI)

This gene has 4 transcripts (splice variants), 168 orthologues, 51 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 8.9), ovary (RPKM 8.2) and 25 other tissues.

Summary

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]

ZNF592 Products (1)

mRNA	Protein	Name
NM_014630.3	NP_055445.2	zinc finger protein 592

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ZNF592 Protein Structure

zf-C2H2

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1267 a.a.

Protein Preferred Names	Protein Names
zinc finger protein 592

ZNF592 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ZNF592	Q92610	TCAF1	Homo sapiens	Q9Y4C2	Y2H Prey Pooling	25416956
Intra	ZNF592	Q92610	TCAF1	Homo sapiens	Q9Y4C2	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Galloway-Mowat Syndrome 1	Galloway Syndrome Nephrosis-Neuronal Dysmigration Syndrome Nephrosis-Microcephaly Syndrome Camos Scar5 GAMOS1 Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Microcephaly, Hiatal Hernia And Nephrotic Syndrome Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly Scar5, Formerly Spinocerebellar Ataxia Autosomal Recessive 5 Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities Camos Syndrome Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome Galloway-Mowat Syndrome Spinocerebellar Ataxia, Autosomal Recessive, 5 Galloway Mowat Syndrome Spinocerebellar Ataxia, Autosomal Recessive 5
Spinocerebellar Ataxia, Autosomal Recessive 6	SCAR6 Norwegian Infantile Onset Ataxia Autosomal Recessive Spinocerebellar Ataxia 6 Autosomal Recessive Spinocerebellar Ataxia Type 6 Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia Cerebellar Ataxia, Infantile Nonprogressive, Autosomal Recessive Spinocerebellar Ataxia Autosomal Recessive 6 Cerebellar Ataxia Infantile Nonprogressive Autosomal Recessive
Spinocerebellar Ataxia, Autosomal Recessive 3	SCAR3 Scabd Autosomal Recessive Spinocerebellar Ataxia Type 3 Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome Autosomal Recessive Spinocerebellar Ataxia-Blindness-Hearing Loss Syndrome Spinocerebellar Ataxia With Blindness And Deafness Autosomal Recessive Spinocerebellar Ataxia 3 Spinocerebellar Ataxia Autosomal Recessive 3 Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness Autosomal Recessive Cerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar Ataxia, Autosomal Recessive 4	SCAR4 Scasi Spinocerebellar Ataxia With Saccadic Intrusions Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome Spinocerebellar Ataxia 24 Autosomal Recessive Spinocerebellar Ataxia 4 Sca24 Spinocerebellar Ataxia 24, Formerly Sca24, Formerly Spinocerebellar Ataxia Autosomal Recessive 4 Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	CECBA Cerebellar Ataxia, Nonprogressive, With Mental Retardation Canpmr Nonprogressive Cerebellar Ataxia With Mental Retardation Non-Progressive Cerebellar Ataxia With Intellectual Disability Ataxia, Cerebellar, Nonprogressive, With Mental Retardation
Spastic Paraplegia 28, Autosomal Recessive	SPG28 Hereditary Spastic Paraplegia 28 Autosomal Recessive Spastic Paraplegia Type 28 Autosomal Recessive Spastic Paraplegia 28 Paraplegia, Spastic, Type 28, Autosomal Recessive
Nut Midline Carcinoma	Nuclear Protein In Testis Midline Carcinoma Nmc
Apolipoprotein C-Iii Deficiency	Hyperalphalipoproteinemia 2 HALP2
Neurosarcoidosis	Cerebral Sarcoidosis
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16155	ZNF592 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ZNF592	VGNC	VGNC:48769
Felis catus	ZNF592	VGNC	VGNC:67331
Mus musculus	ZNF592	MGD	MGI:2443541
Macaca mulatta	ZNF592	VGNC	VGNC:79762
Rattus norvegicus	ZNF592	RGD	RGD:1308705
Bos taurus	ZNF592	VGNC	VGNC:37308
Others	ZNF592	NCBI