SEMA6D - semaphorin 6D Gene
Species: Homo sapiens
About SEMA6D
This gene has 17 transcripts (splice variants), 205 orthologues and 19 paralogues. Broad expression in small intestine (RPKM 13.9), placenta (RPKM 10.4) and 19 other tissues.
Summary
Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010]
SEMA6D Products (9)
| mRNA | Protein | Name |
|---|---|---|
| NM_001198999.2 | NP_001185928.1 | semaphorin-6D isoform 1 precursor |
| NM_001358351.3 | NP_001345280.1 | semaphorin-6D isoform 4 precursor |
| NM_001358352.2 | NP_001345281.1 | semaphorin-6D isoform 7 precursor |
| NM_020858.2 | NP_065909.1 | semaphorin-6D isoform 1 precursor |
| NM_024966.3 | NP_079242.2 | semaphorin-6D isoform 6 precursor |
| NM_153616.2 | NP_705869.1 | semaphorin-6D isoform 2 precursor |
| NM_153617.2 | NP_705870.1 | semaphorin-6D isoform 3 precursor |
| NM_153618.2 | NP_705871.1 | semaphorin-6D isoform 4 precursor |
| NM_153619.1 | NP_705872.1 | semaphorin-6D isoform 5 precursor |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of axon extension |
IDA
IDA: Inferred from direct assay
|
12110693 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell surface |
IMP
IMP: Inferred from mutant phenotype
|
12110693 | GOA |
| located in cytoplasm |
IMP
IMP: Inferred from mutant phenotype
|
12110693 | GOA |
SEMA6D Protein Structure
Sema: Sema domain (65 - 475)
PSI: Plexin repeat (514 - 551)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1073 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
semaphorin-6D |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cone-Rod Dystrophy 10 |
|
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| Inflammatory Bowel Disease |
|
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| Kallmann Syndrome |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | SEMA6D | VGNC | VGNC:46004 |
| Bos taurus | SEMA6D | VGNC | VGNC:34444 |
| Mus musculus | SEMA6D | MGD | MGI:2387661 |
| Felis catus | SEMA6D | VGNC | VGNC:65001 |
| Macaca mulatta | SEMA6D | VGNC | VGNC:77250 |
| Rattus norvegicus | SEMA6D | RGD | RGD:1310910 |
| Others | SEMA6D | NCBI |