1. Gene
  2. TBC1D8 - TBC1 domain family member 8 Gene

TBC1D8 - TBC1 domain family member 8 Gene

Homo sapiens

Also known as AD3; VRP; HBLP1; GRAMD8; TBC1D8A

Gene ID: 11138 | Gene type: protein coding

About TBC1D8

This gene has 10 transcripts (splice variants), 197 orthologues and 45 paralogues. Ubiquitous expression in testis (RPKM 11.3), heart (RPKM 10.6) and 25 other tissues.

Summary

Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

TBC1D8 Products(2)

mRNA Protein Name
NM_001102426.3 NP_001095896.1 TBC1 domain family member 8 isoform 2
NM_001330348.2 NP_001317277.1 TBC1 domain family member 8 isoform 1

TBC1D8 Protein Structure

GRAM

GRAM: GRAM domain (146 - 211)

GRAM

GRAM: GRAM domain (286 - 352)

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (509 - 711)

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  • 1140 a.a.
Protein Preferred Names Protein Names

TBC1 domain family member 8

BUB2-like protein 1

Related Diseases

Diseases Alias
Autosomal Dominant Nonsyndromic Deafness 78

Dfna78

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
Felis catus TBC1D8 VGNC VGNC:65989
Canis familiaris TBC1D8 VGNC VGNC:47151
Bos taurus TBC1D8 VGNC VGNC:35645
Macaca mulatta TBC1D8 VGNC VGNC:78153
Rattus norvegicus TBC1D8 RGD RGD:1595491
Mus musculus TBC1D8 MGD MGI:1927225