2. Gene
  3. SORBS3 - sorbin and SH3 domain containing 3 Gene

SORBS3 - sorbin and SH3 domain containing 3 Gene

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

Also known as SCAM1; SH3D4; SCAM-1

Gene ID: 10174 | Gene type: protein coding

About SORBS3

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:22,544,973-22,575,788 (from NCBI)

This gene has 22 transcripts (splice variants), 206 orthologues and 12 paralogues. Ubiquitous expression in fat (RPKM 30.7), testis (RPKM 27.8) and 24 other tissues.

Summary

This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

SORBS3 Products(2)

mRNA Protein Name
NM_001018003.3 NP_001018003.1 vinexin isoform 2
NM_005775.5 NP_005766.3 vinexin isoform 1

SORBS3 Protein Structure

Sorb

Sorb: Sorbin homologous domain (120 - 156)

SH3_9

SH3_9: Variant SH3 domain (388 - 435)

SH3_1

SH3_1: SH3 domain (460 - 507)

SH3_9

SH3_9: Variant SH3 domain (619 - 669)

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  • 671 a.a.
Protein Preferred Names Protein Names

vinexin

sorbin and SH3 domain-containing protein 3

Related Diseases

Diseases Alias
Spinocerebellar Ataxia, X-Linked 2

Scax2

X-Linked Spinocerebellar Ataxia 2

Cerebellar Ataxia With Extrapyramidal Involvement Early-Onset

Cerebellar Ataxia With Extrapyramidal Involvement, Early-Onset

Spinocerebellar Ataxia X-Linked Type 2
Cardiomyopathy, Dilated, 1p

Dilated Cardiomyopathy 1p

CMD1P

Cardiomyopathy, Dilated 1p

Cardiomyopathy, Dilated, Type 1p
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
Methemoglobinemia And Ambiguous Genitalia

METAG

Methemoglobinemia Type Iv

Isolated 17,20-Lyase Deficiency, Pure

Methemoglobinemia Due To Deficiency Of Cytochrome B5

Methemoglobinemia Type 4

Methemoglobinemia Type Iv, Formerly

Methemoglobinemia Due To Deficiency Of Cytochrome B5, Formerly

Pure Isolated 17,20-Lyase Deficiency

Methemoglobinemia, Type Iv
Schizophrenia 18

SCZD18

Schizophrenia 18 With Or Without An Affective Disorder

Schizophrenia Susceptibility 18

Chromosome 7q36.3 Duplication Syndrome, 362-Kb

Schizophrenia, Type 18
X-Linked Cerebellar Ataxia
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-RS13569 SORBS3 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus SORBS3 VGNC VGNC:65570
Canis familiaris SORBS3 VGNC VGNC:46658
Mus musculus SORBS3 MGD MGI:700013
Macaca mulatta SORBS3 VGNC VGNC:77803
Bos taurus SORBS3 VGNC VGNC:35129
Rattus norvegicus SORBS3 RGD RGD:628900