1. Gene
  2. SLITRK6 - SLIT and NTRK like family member 6 Gene

SLITRK6 - SLIT and NTRK like family member 6 Gene

Homo sapiens

Also known as DFNMYP

Gene ID: 84189 | Gene type: protein coding

About SLITRK6

Cytogenetic location: 13q31.1 Genomic coordinates (GRCh38): 13:85,792,790-85,799,419 (from NCBI)

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

SLITRK6 Protein Structure

LRR_8

LRR_8: Leucine rich repeat (136 - 195)

LRR_8

LRR_8: Leucine rich repeat (389 - 447)

LRR_8

LRR_8: Leucine rich repeat (459 - 517)

  • 0
  • 200
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  • 600
  • 841 a.a.
Protein Preferred Names Protein Names

SLIT and NTRK-like protein 6

4832410J21Rik

Recombinant SLITRK6 Proteins

Cat. No. Product Name Accession Purity
HY-P77208 SLITRK6 Protein, Human (HEK293, His) Q9H5Y7 (S27-S608) ≥95%

Related Diseases

Diseases Alias
Deafness And Myopia

High Myopia-Sensorineural Deafness Syndrome

DFNMYP

Deafness And Myopia Syndrome

Deafness, Cochlear, Plus

High Myopia And Sensorineural Deafness

Myopia And Deafness

High Myopia-Sensorineural Hearing Loss Syndrome

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Deafness, Autosomal Dominant 33

DFNA33

Autosomal Dominant Nonsyndromic Deafness 33

Autosomal Dominant Deafness 33

Autosomal Dominant Nonsyndromic Deafness 74

Dfna74

Renal Pelvis Carcinoma

Malignant Neoplasm Of Renal Pelvis

Malignant Tumor Of Renal Pelvis

Carcinoma Of Kidney Pelvis

Malignant Renal Pelvis Neoplasm

Renal Pelvis Cancer

Trichotillomania

TTM

Hair-Pulling Syndrome

Compulsive Hair Plucking

Hair Pulling Disorder

Supratentorial Primitive Neuroectodermal Tumor

Supratentorial Pnet

Supratentorial Embryonal Tumor, Not Otherwise Specified

Ewings Sarcoma-Primitive Neuroectodermal Tumor

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome

Duane'S Syndrome

Duane Syndrome

Isolated Duane Retraction Syndrome

Co-Contractive Retraction Syndrome

Duane Anomaly, Isolated

Ocular Retraction Syndrome

Drs

Durs

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
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