1. Gene
  2. TBC1D15 - TBC1 domain family member 15 Gene

TBC1D15 - TBC1 domain family member 15 Gene

Homo sapiens

Also known as RAB7-GAP

Gene ID: 64786 | Gene type: protein coding

About TBC1D15

Cytogenetic location: 12q21.1 Genomic coordinates (GRCh38): 12:71,839,759-71,924,313 (from NCBI)

This gene has 17 transcripts (splice variants), 218 orthologues and 45 paralogues. Ubiquitous expression in thyroid (RPKM 10.9), adrenal (RPKM 9.8) and 25 other tissues.

Summary

This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

TBC1D15 Products(10)

mRNA Protein Name
NM_001146213.3 NP_001139685.2 TBC1 domain family member 15 isoform 3
NM_001146214.3 NP_001139686.2 TBC1 domain family member 15 isoform 2
NM_001385848.1 NP_001372777.1 TBC1 domain family member 15 isoform 4
NM_001385849.1 NP_001372778.1 TBC1 domain family member 15 isoform 5
NM_001385850.1 NP_001372779.1 TBC1 domain family member 15 isoform 6
NM_001385851.1 NP_001372780.1 TBC1 domain family member 15 isoform 7
NM_001385852.1 NP_001372781.1 TBC1 domain family member 15 isoform 8
NM_001385853.1 NP_001372782.1 TBC1 domain family member 15 isoform 9
NM_001385854.1 NP_001372783.1 TBC1 domain family member 15 isoform 10
NM_022771.6 NP_073608.4 TBC1 domain family member 15 isoform 1

TBC1D15 Protein Structure

DUF3548

DUF3548: Domain of unknown function (DUF3548) (8 - 220)

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (350 - 578)

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  • 691 a.a.
Protein Preferred Names Protein Names

TBC1 domain family member 15

GAP for RAB7

Related Diseases

Diseases Alias
Warburg Micro Syndrome 4

WARBM4

Micro Syndrome 4

Charcot-Marie-Tooth Disease, Axonal, Type 2b

Charcot-Marie-Tooth Disease Type 2b

CMT2B

Hmsn Iib

Hmsn2b

Charcot-Marie-Tooth Disease, Type 2b

Hereditary Motor And Sensory Neuropathy Iib

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b

Charcot-Marie-Tooth Neuropathy Type 2b

Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b

Charcot-Marie-Tooth Neuropathy, Type 2b

Hereditary Motor And Sensory Nueropathy Iib

Cmt 2b

Charcot Marie Tooth Disease Type 2b

Charcot-Marie-Tooth Disease, Neuronal, Type 2b

Hereditary Motor And Sensory Neuropathy 2 B

Peripheral Sensory Neuropathy, Autosomal Dominant

Charcot-Marie-Tooth Disease 2b

Charcot-Marie-Tooth Disease Axonal Type 2b

Charcot-Marie-Tooth Disease Neuronal Type 2b

Peripheral Sensory Neuropathy Autosomal Dominant

Psn

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Mus musculus TBC1D15 MGD MGI:1913937
Macaca mulatta TBC1D15 VGNC VGNC:78215
Felis catus TBC1D15 VGNC VGNC:65974
Rattus norvegicus TBC1D15 RGD RGD:1307920
Bos taurus TBC1D15 VGNC VGNC:35629
Canis familiaris TBC1D15 VGNC VGNC:47134