1. Gene
  2. SORBS2 - sorbin and SH3 domain containing 2 Gene

SORBS2 - sorbin and SH3 domain containing 2 Gene

Homo sapiens

Also known as ARGBP2; PRO0618

Gene ID: 8470 | Gene type: protein coding

About SORBS2

Cytogenetic location: 4q35.1 Genomic coordinates (GRCh38): 4:185,585,523-185,956,372 (from NCBI)

This gene has 73 transcripts (splice variants), 207 orthologues and 12 paralogues. Broad expression in heart (RPKM 46.6), adrenal (RPKM 26.3) and 19 other tissues.

Summary

Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin Cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

SORBS2 Products(42)

mRNA Protein Name
NM_001145670.2 NP_001139142.1 sorbin and SH3 domain-containing protein 2 isoform 3
NM_001145671.3 NP_001139143.1 sorbin and SH3 domain-containing protein 2 isoform 4
NM_001145672.2 NP_001139144.1 sorbin and SH3 domain-containing protein 2 isoform 5
NM_001145673.3 NP_001139145.1 sorbin and SH3 domain-containing protein 2 isoform 6
NM_001145674.3 NP_001139146.1 sorbin and SH3 domain-containing protein 2 isoform 7
NM_001145675.3 NP_001139147.1 sorbin and SH3 domain-containing protein 2 isoform 8
NM_001270771.3 NP_001257700.1 sorbin and SH3 domain-containing protein 2 isoform 9
NM_001394245.1 NP_001381174.1 sorbin and SH3 domain-containing protein 2 isoform 10
NM_001394246.1 NP_001381175.1 sorbin and SH3 domain-containing protein 2 isoform 11
NM_001394247.1 NP_001381176.1 sorbin and SH3 domain-containing protein 2 isoform 11
NM_001394248.1 NP_001381177.1 sorbin and SH3 domain-containing protein 2 isoform 12
NM_001394249.1 NP_001381178.1 sorbin and SH3 domain-containing protein 2 isoform 12
NM_001394250.1 NP_001381179.1 sorbin and SH3 domain-containing protein 2 isoform 13
NM_001394251.1 NP_001381180.1 sorbin and SH3 domain-containing protein 2 isoform 9
NM_001394252.1 NP_001381181.1 sorbin and SH3 domain-containing protein 2 isoform 9
NM_001394253.1 NP_001381182.1 sorbin and SH3 domain-containing protein 2 isoform 9
NM_001394254.1 NP_001381183.1 sorbin and SH3 domain-containing protein 2 isoform 14
NM_001394255.1 NP_001381184.1 sorbin and SH3 domain-containing protein 2 isoform 15
NM_001394256.1 NP_001381185.1 sorbin and SH3 domain-containing protein 2 isoform 15
NM_001394257.1 NP_001381186.1 sorbin and SH3 domain-containing protein 2 isoform 15
NM_001394258.1 NP_001381187.1 sorbin and SH3 domain-containing protein 2 isoform 16
NM_001394259.1 NP_001381188.1 sorbin and SH3 domain-containing protein 2 isoform 17
NM_001394260.1 NP_001381189.1 sorbin and SH3 domain-containing protein 2 isoform 17
NM_001394261.1 NP_001381190.1 sorbin and SH3 domain-containing protein 2 isoform 18
NM_001394262.1 NP_001381191.1 sorbin and SH3 domain-containing protein 2 isoform 19
NM_001394263.1 NP_001381192.1 sorbin and SH3 domain-containing protein 2 isoform 19
NM_001394264.1 NP_001381193.1 sorbin and SH3 domain-containing protein 2 isoform 20
NM_001394265.1 NP_001381194.1 sorbin and SH3 domain-containing protein 2 isoform 21
NM_001394266.1 NP_001381195.1 sorbin and SH3 domain-containing protein 2 isoform 2
NM_001394267.1 NP_001381196.1 sorbin and SH3 domain-containing protein 2 isoform 2
NM_001394268.1 NP_001381197.1 sorbin and SH3 domain-containing protein 2 isoform 2
NM_001394270.1 NP_001381199.1 sorbin and SH3 domain-containing protein 2 isoform 2
NM_001394271.1 NP_001381200.1 sorbin and SH3 domain-containing protein 2 isoform 2
NM_001394272.1 NP_001381201.1 sorbin and SH3 domain-containing protein 2 isoform 2
NM_001394273.1 NP_001381202.1 sorbin and SH3 domain-containing protein 2 isoform 22
NM_001394274.1 NP_001381203.1 sorbin and SH3 domain-containing protein 2 isoform 23
NM_001394275.1 NP_001381204.1 sorbin and SH3 domain-containing protein 2 isoform 23
NM_001394276.1 NP_001381205.1 sorbin and SH3 domain-containing protein 2 isoform 24
NM_001394277.1 NP_001381206.1 sorbin and SH3 domain-containing protein 2 isoform 25
NM_001395207.1 NP_001382136.1 sorbin and SH3 domain-containing protein 2 isoform 26
NM_003603.7 NP_003594.3 sorbin and SH3 domain-containing protein 2 isoform 1
NM_021069.6 NP_066547.1 sorbin and SH3 domain-containing protein 2 isoform 2

SORBS2 Protein Structure

Sorb

Sorb: Sorbin homologous domain (67 - 116)

SH3_1

SH3_1: SH3 domain (869 - 913)

SH3_1

SH3_1: SH3 domain (944 - 991)

SH3_9

SH3_9: Variant SH3 domain (1048 - 1098)

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  • 1100 a.a.
Protein Preferred Names Protein Names

sorbin and SH3 domain-containing protein 2

Arg binding protein 2

Related Diseases

Diseases Alias
Hypotrichosis 13

HYPT13

Hypotrichosis With Woolly Hair

Hypotrichosis, Type 13

Retinitis Pigmentosa 23

RP23

Retinitis Pigmentosa-23

Retinitis Pigmentosa, Type 23

Rp23 Gene

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy

Fshd

Landouzy-Dejerine Muscular Dystrophy

Muscular Dystrophy, Facioscapulohumeral

FSHD1

Fshd1a

Muscular Dystrophy, Facioscapulohumeral, Type 1a

Facioscapulohumeral Muscular Dystrophy Type 1a

Fsh Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy 1a

Facioscapulohumeral Atrophy

Facioscapulohumeral Myopathy

Muscular Dystrophy, Facioscapulohumeral, Type 1

Facioscapulohumeral Muscular Dystrophy Type 1

Landouzy Dejerine Muscular Dystrophy

Muscular Dystrophy, Landouzy-Dejerine

Fshmd1a

Facio-Scapulo-Humeral Dystrophy

Facioscapulohumeral Type Progressive Muscular Dystrophy

Facioscapuloperoneal Muscular Dystrophy

Facioscapulohumeral Dystrophy

Fsh Dystrophy

Landouzy-Dejerine Dystrophy

Landouzy-Dejerine Myopathy

Fmd

Facioscapulohumeral Muscular Dystrophy-1a

Muscular Dystrophy Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral, Type 1

Landouzy-Dejerine Disease

Landouzy-Déjerine Atrophy

Facioscapulohumeral Muscle Dystrophy

Fmd - [Facioscapulohumeral Muscular Dystrophy]

Fsh - [Facioscapulohumeral Muscular Dystrophy]

Fshd - [Facioscapulohumeral Muscular Dystrophy]

Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

Landouzy-Déjérine Muscular Dystrophy

Myopathy, Spheroid Body

Spheroid Body Myopathy

Autosomal Dominant Spheroid Body Myopathy

SBM

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

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

Orthologs Information

Species Symbol Source ID
Bos taurus SORBS2 VGNC VGNC:106942
Felis catus SORBS2 VGNC VGNC:80007
Macaca mulatta SORBS2 VGNC VGNC:77767
Canis familiaris SORBS2 VGNC VGNC:51827
Mus musculus SORBS2 MGD MGI:1924574
Rattus norvegicus SORBS2 RGD RGD:620061