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

SLITRK6 - SLIT and NTRK like family member 6 Gene

中文名称:SLIT 和 NTRK 样家族成员 6

种属: Homo sapiens

同用名: DFNMYP

基因 ID: 84189 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 SLITRK 蛋白家族的一个成员。该家族的成员是完整的膜蛋白,其特征在于两个 N 末端富含亮氨酸重复序列 (LRR) 结构域和一个与 Trk 神经营养蛋白受体具有同源性的 C 末端区域。这种蛋白质的功能是调节正常听力和视力所需的神经突生长。该基因的突变是近视和耳聋的原因。[RefSeq 提供,2014 年 12 月]

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 基因产物(1)

mRNA Protein Name
NM_032229.3 NP_115605.2 SLIT and NTRK-like protein 6 precursor
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within synapse assembly IMP
IMP: 通过突变表型推断
23543054 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
23543054 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
23543054 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SLITRK6 蛋白结构

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
  • 400
  • 600
  • 841 a.a.
蛋白主名 其他名称

SLIT and NTRK-like protein 6

4832410J21Rik

重组 SLITRK6 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77208 SLITRK6 Protein, Human (HEK293, His) Q9H5Y7 (S27-S608) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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
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