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  2. SH3BP4 - SH3 domain binding protein 4 Gene

SH3BP4 - SH3 domain binding protein 4 Gene

Homo sapiens

Also known as TTP; BOG25

Gene ID: 23677 | Gene type: protein coding

About SH3BP4

Cytogenetic location: 2q37.2 Genomic coordinates (GRCh38): 2:234,952,017-235,055,714 (from NCBI)

This gene has 11 transcripts (splice variants), 277 orthologues and 1 paralogue. Ubiquitous expression in salivary gland (RPKM 12.0), gall bladder (RPKM 8.4) and 24 other tissues.

Summary

This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]

SH3BP4 Products(6)

mRNA Protein Name
NM_001371302.1 NP_001358231.1 SH3 domain-binding protein 4
NM_001371303.1 NP_001358232.1 SH3 domain-binding protein 4
NM_001371304.1 NP_001358233.1 SH3 domain-binding protein 4
NM_001371305.1 NP_001358234.1 SH3 domain-binding protein 4
NM_001371306.1 NP_001358235.1 SH3 domain-binding protein 4
NM_014521.3 NP_055336.1 SH3 domain-binding protein 4

SH3BP4 Protein Structure

SH3_9

SH3_9: Variant SH3 domain (62 - 110)

ZU5

ZU5: ZU5 domain (322 - 403)

SH3_2

SH3_2: Variant SH3 domain (658 - 721)

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  • 963 a.a.
Protein Preferred Names Protein Names

SH3 domain-binding protein 4

EH-binding protein 10

Related Diseases

Diseases Alias
Molluscum Contagiosum

Water Warts

Molluscum Verrucosum

Metacarpal 4-5 Fusion

Syndactyly Type 8

MF4

Fusion Of Metacarpals 4 And 5

Metacarpals 4 And 5 Fusion

Metacarpal 4 5 Fusion

Cardiomyopathy, Familial Hypertrophic, 2

Hypertrophic Cardiomyopathy 2

CMH2

Cardiomyopathy, Hypertrophic, 2

Cardiomyopathy Familial Hypertrophic 2

Cardiomyopathy, Familial Hypertrophic 2

Cardiomyopathy, Hypertrophic, Familial, Type 2

Waardenburg Syndrome, Type 4a

Waardenburg-Shah Syndrome

Shah-Waardenburg Syndrome

Waardenburg Syndrome Type 4a

WS4A

Ws4

Waardenburg Syndrome Type 4

Waardenburg Syndrome Type Iva

Waardenburg Syndrome With Hirschsprung Disease Type 4a

Hirschsprung Disease With Pigmentary Anomaly

Waardenburg-Hirschsprung Syndrome

Waardenburg Syndrome, Type Iva

Waardenburg Syndrome With Hirschsprung Disease, Type 4a

Waardenburg-Hirschsprung Disease

Waardenburg Syndrome, Type 4

Waardenburg Syndrome 4a

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
Rattus norvegicus SH3BP4 RGD RGD:620219
Canis familiaris SH3BP4 VGNC VGNC:46119
Macaca mulatta SH3BP4 VGNC VGNC:77202
Bos taurus SH3BP4 VGNC VGNC:34567
Felis catus SH3BP4 VGNC VGNC:65102
Mus musculus SH3BP4 MGD MGI:2138297