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SLITRK6 SLIT and NTRK like family member 6 [ Homo sapiens (human) ]

Gene ID: 84189, updated on 23-Nov-2021

Summary

Official Symbol
SLITRK6provided by HGNC
Official Full Name
SLIT and NTRK like family member 6provided by HGNC
Primary source
HGNC:HGNC:23503
See related
Ensembl:ENSG00000184564 MIM:609681
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNMYP
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]
Expression
Biased expression in urinary bladder (RPKM 12.2), salivary gland (RPKM 7.4) and 11 other tissues See more
Orthologs
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Genomic context

See SLITRK6 in Genome Data Viewer
Location:
13q31.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (85792790..85799419, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (86366925..86373554, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 351 Neighboring gene RNA, U6 small nuclear 72, pseudogene Neighboring gene MOB kinase activator 1A pseudogene 1 Neighboring gene DEAD-box helicase 6 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
Deafness and myopia
MedGen: C3806275 OMIM: 221200 GeneReviews: Deafness and Myopia Syndrome
Compare labs
Genome-wide association study of irritable vs. elated mania suggests genetic differences between clinical subtypes of bipolar disorder.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC119595, MGC119596, MGC119597

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in auditory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in auditory receptor cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in axonogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cochlea development IEA
Inferred from Electronic Annotation
more info
 
involved_in innervation IEA
Inferred from Electronic Annotation
more info
 
involved_in lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
involved_in linear vestibuloocular reflex IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of synapse assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of presynapse assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
involved_in startle response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within synapse assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vestibulocochlear nerve development IEA
Inferred from Electronic Annotation
more info
 
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
SLIT and NTRK-like protein 6
Names
4832410J21Rik
slit and trk like gene 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_041801.2 RefSeqGene

    Range
    12265..18894
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1357

mRNA and Protein(s)

  1. NM_032229.3NP_115605.2  SLIT and NTRK-like protein 6 precursor

    See identical proteins and their annotated locations for NP_115605.2

    Status: REVIEWED

    Source sequence(s)
    AL162373
    Consensus CDS
    CCDS41903.1
    UniProtKB/Swiss-Prot
    Q9H5Y7
    Related
    ENSP00000495507.1, ENST00000647374.2
    Conserved Domains (4) summary
    smart00082
    Location:517567
    LRRCT; Leucine rich repeat C-terminal domain
    sd00033
    Location:94113
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:411471
    LRR_8; Leucine rich repeat
    cl26793
    Location:69494
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    85792790..85799419 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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