TBC1D7 - TBC1 domain family member 7 Gene

Homo sapiens

Also known as TBC7; MGCPH; PIG51

Gene ID: 51256 | Gene type: protein coding

About TBC1D7

Cytogenetic location: 6p24.1 Genomic coordinates (GRCh38): 6:13,304,951-13,328,537 (from NCBI)

This gene has 21 transcripts (splice variants), 202 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 3.4), testis (RPKM 2.6) and 25 other tissues.

Summary

This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]

TBC1D7 Products(7)

mRNA	Protein	Name
NM_001143964.4	NP_001137436.1	TBC1 domain family member 7 isoform a
NM_001143965.4	NP_001137437.1	TBC1 domain family member 7 isoform a
NM_001143966.4	NP_001137438.1	TBC1 domain family member 7 isoform b
NM_001258457.3	NP_001245386.1	TBC1 domain family member 7 isoform c
NM_001318805.2	NP_001305734.1	TBC1 domain family member 7 isoform a
NM_001318806.2	NP_001305735.1	TBC1 domain family member 7 isoform d
NM_016495.6	NP_057579.1	TBC1 domain family member 7 isoform a

TBC1D7 Protein Structure

RabGAP-TBC

0
100
200
293 a.a.

Protein Preferred Names

Protein Names

TBC1 domain family member 7

TBC domain family 7

Related Diseases

Diseases

Alias

Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive

MGCPH

Isolated Megalencephaly

Isolated Macrencephaly

Megalencephaly

Macroencephaly

Macrencephaly

Tuberous Sclerosis

Tuberous Sclerosis Syndrome	Bourneville'S Disease
Epiloia	Cerebral Sclerosis
Tuberose Sclerosis	Tuberous Sclerosis 1
Bourneville Disease	Bourneville Phakomatosis
Pringle'S Disease

Subependymal Glioma

Mixed Subependymoma-Ependymoma	Subependymal Astrocytoma
Who Grade I Ependymal Tumor	Glioma, Subependymal

Benign Ependymoma

Ependymoma	Epithelial Ependymoma
Who Grade Ii Ependymal Tumor	Myxopapillary Ependymoma

Kidney Angiomyolipoma

Angiomyolipoma Of Kidney

Renal Angiomyolipoma

Astigmatism

Subependymal Giant Cell Astrocytoma

Sega	Astrocytoma Subependymal Giant Cell
Subependymal Giant-Cell Astrocytoma

Kidney Benign Neoplasm

Renal And Ureteral Tumor

Benign Kidney Neoplasm

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14246	TBC1D7 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TBC1D7	VGNC	VGNC:50071
Mus musculus	TBC1D7	MGD	MGI:1914296
Macaca mulatta	TBC1D7	VGNC	VGNC:104432
Felis catus	TBC1D7	VGNC	VGNC:102531
Canis familiaris	TBC1D7	VGNC	VGNC:49771

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