1. Gene
  2. SH3GLB2 - SH3 domain containing GRB2 like, endophilin B2 Gene

SH3GLB2 - SH3 domain containing GRB2 like, endophilin B2 Gene

Homo sapiens

Also known as RRIG1; PP6569; PP9455

Gene ID: 56904 | Gene type: protein coding

About SH3GLB2

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:129,007,036-129,028,331 (from NCBI)

This gene has 12 transcripts (splice variants), 274 orthologues and 12 paralogues. Ubiquitous expression in skin (RPKM 45.1), prostate (RPKM 29.7) and 25 other tissues.

Summary

Enables identical protein binding activity. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

SH3GLB2 Products(6)

mRNA Protein Name
NM_001287045.2 NP_001273974.1 endophilin-B2 isoform a
NM_001287046.2 NP_001273975.1 endophilin-B2 isoform b
NM_001369913.1 NP_001356842.1 endophilin-B2 isoform c
NM_001369914.1 NP_001356843.1 endophilin-B2 isoform d
NM_001369915.1 NP_001356844.1 endophilin-B2 isoform e
NM_020145.4 NP_064530.1 endophilin-B2 isoform b

SH3GLB2 Protein Structure

BAR

BAR: BAR domain (16 - 279)

SH3_9

SH3_9: Variant SH3 domain (342 - 392)

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  • 200
  • 300
  • 395 a.a.
Protein Preferred Names Protein Names

endophilin-B2

SH3 domain-containing GRB2-like protein B2

Related Diseases

Diseases Alias
Epidermolysis Bullosa Simplex 5b, With Muscular Dystrophy

Epidermolysis Bullosa Simplex With Muscular Dystrophy

Md-Ebs

Epidermolysis Bullosa Simplex And Limb-Girdle Muscular Dystrophy

EBS5B

Ebsmd

Mdebs

Limb-Girdle Muscular Dystrophy With Epidermolysis Bullosa Simplex

Ebs-Md

Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy

Epidermolysa Bullosa Simplex With Muscular Dystrophy

Epidermolysis Bullosa Simplex - Limb Girdle Muscular Dystrophy

Ebs With Muscular Dystrophy

Muscular Dystrophy With Epidermolysis Bullosa Simplex

Epidermolysa Bullosa Simplex, With Muscular Dystrophy

Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia

Junctional Epidermolysis Bullosa With Pyloric Atresia

Carmi Syndrome

Epidermolysis Bullosa, Junctional, With Pyloric Atresia

Jeb-Pa

JEB5B

Epidermolysis Bullosa Junctionalis With Pyloric Atresia

Aplasia Cutis Congenita With Gastrointestinal Atresia

Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita

Eb-Pa-Acc

Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome

Jeb With Pyloric Atresia

Epidermolysis Bullosa Letalis, With Pyloric Atresia

Pa-Jeb

Epidermolysis Bullosa With Pyloric Atresia

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
Canis familiaris SH3GLB2 VGNC VGNC:46128
Rattus norvegicus SH3GLB2 RGD RGD:1305886
Macaca mulatta SH3GLB2 VGNC VGNC:77207
Mus musculus SH3GLB2 MGD MGI:2385131
Felis catus SH3GLB2 VGNC VGNC:65110
Bos taurus SH3GLB2 VGNC VGNC:34576