TM9SF2 - transmembrane 9 superfamily member 2 Gene
Also Known as P76
Species: Homo sapiens
About TM9SF2
This gene has 6 transcripts (splice variants), 186 orthologues and 3 paralogues. Ubiquitous expression in thyroid (RPKM 79.3), colon (RPKM 75.9) and 25 other tissues.
Summary
This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]
TM9SF2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_004800.3 | NP_004791.1 | transmembrane 9 superfamily member 2 precursor |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in ceramide metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
30660999 | GOA |
| involved in glycosphingolipid biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
30660999 | GOA |
| involved in regulation of heparan sulfate proteoglycan biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
28404855 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
28404855 | GOA |
TM9SF2 Protein Structure
EMP70: Endomembrane protein 70 (74 - 620)
- 0
- 200
- 400
- 600
- 663 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transmembrane 9 superfamily member 2 |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | TM9SF2 | VGNC | VGNC:53839 |
| Canis familiaris | TM9SF2 | VGNC | VGNC:47415 |
| Rattus norvegicus | TM9SF2 | RGD | RGD:1359230 |
| Macaca mulatta | TM9SF2 | VGNC | VGNC:78568 |
| Felis catus | TM9SF2 | VGNC | VGNC:66228 |
| Mus musculus | TM9SF2 | MGD | MGI:1915309 |
| Others | TM9SF2 | NCBI |