SLITRK6 - SLIT and NTRK like family member 6 Gene

Also Known as DFNMYP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84189

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

Gene Ontology

Biological Process
Cellular Component

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

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLITRK6 Protein Structure

LRR_8

0
200
400
600
800
841 a.a.

Protein Preferred Names	Protein Names
SLIT and NTRK-like protein 6	4832410J21Rik

Recombinant SLITRK6 Proteins

Cat. No.	상품명	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	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

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	상품명	효과	Purity	Phase
HY-P99595	Sirtratumab vedotin		97.38%	Phase 1

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS13378	SLITRK6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20221	Slitrk6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26728	Slitrk6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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