2. Gene
  3. ZNF592 - zinc finger protein 592 Gene

ZNF592 - zinc finger protein 592 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CAMOS; SCAR5

Gene ID: 9640 | Gene type: protein coding

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 Reference 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

zf-C2H2: Zinc finger, C2H2 type (1013 - 1036)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (1043 - 1069)

  • 0
  • 200
  • 400
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  • 800
  • 1000
  • 1200
  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS16155 ZNF592 Human Pre-designed siRNA Set A Pre-designed Sets / 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