SLITRK6 - SLIT and NTRK like family member 6 Gene
Also Known as DFNMYP
Species: Homo sapiens
About SLITRK6
This gene has 3 transcripts (splice variants), 195 orthologues, 25 paralogues and is associated with 4 phenotypes. Biased expression in urinary bladder (RPKM 12.2), salivary gland (RPKM 7.4) and 11 other tissues.
Summary
This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with Trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014]
SLITRK6 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_032229.3 | NP_115605.2 | SLIT and NTRK-like protein 6 precursor |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within synapse assembly |
IMP
IMP: Inferred from mutant phenotype
|
23543054 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
23543054 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
23543054 | GOA |
SLITRK6 Protein Structure
LRR_8: Leucine rich repeat (136 - 195)
LRR_8: Leucine rich repeat (389 - 447)
LRR_8: Leucine rich repeat (459 - 517)
- 0
- 200
- 400
- 600
- 800
- 841 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
SLIT and NTRK-like protein 6 |
|
Recombinant SLITRK6 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P77208 | SLITRK6 Protein, Human (HEK293, His) | Q9H5Y7 (S27-S608) | ≥ 90%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness And Myopia |
|
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
|
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| Myopia |
|
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| Deafness, Autosomal Dominant 33 |
|
|
| Autosomal Dominant Nonsyndromic Deafness 74 |
|
|
| Renal Pelvis Carcinoma |
|
|
| Trichotillomania |
|
|
| Supratentorial Primitive Neuroectodermal Tumor |
|
|
| Sensorineural Hearing Loss |
|
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| Duane Retraction Syndrome |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | SLITRK6 | VGNC | VGNC:46511 |
| Macaca mulatta | SLITRK6 | VGNC | VGNC:77763 |
| Bos taurus | SLITRK6 | VGNC | VGNC:34967 |
| Mus musculus | SLITRK6 | MGD | MGI:2443198 |
| Rattus norvegicus | SLITRK6 | RGD | RGD:1306550 |
| Others | SLITRK6 | NCBI |