1. Gene
  2. SEMA6A - semaphorin 6A Gene

SEMA6A - semaphorin 6A Gene

中文名称:信号素 6A

种属: Homo sapiens

同用名: VIA; SEMA; HT018; SEMAQ; SEMA6A1

基因 ID: 57556 | 基因类型: protein coding

关于 SEMA6A

Cytogenetic location: 5q23.1 Genomic coordinates (GRCh38): 5:116,443,555-116,574,823 (from NCBI)

This gene has 15 transcripts (splice variants), 221 orthologues and 19 paralogues. Broad expression in adrenal (RPKM 13.5), placenta (RPKM 11.0) and 24 other tissues.

功能概要

跨膜信号蛋白 SEMA6A 在发育中的神经组织中表达,是丘脑皮质投射正常发育所必需的 (Leighton 等人,2001 [PubMed 11242070]) 。[OMIM 提供,2011 年 2 月]

The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011]

SEMA6A 基因产物(2)

mRNA Protein Name
NM_001300780.2 NP_001287709.1 semaphorin-6A isoform 1 precursor
NM_020796.5 NP_065847.1 semaphorin-6A isoform 2 precursor

SEMA6A 蛋白结构

Sema

Sema: Sema domain (60 - 475)

PSI

PSI: Plexin repeat (514 - 555)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1030 a.a.
蛋白主名 其他名称

semaphorin-6A

SEMA6A-1

重组 SEMA6A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76057 Semaphorin-6A/SEMA6A Protein, Human (HEK293, His) Q9H2E6-1 (G19-T649) ≥95%

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 97

DFNB97

Autosomal Recessive Nonsyndromic Deafness 97

Autosomal Recessive Deafness 97

Deafness, Autosomal Recessive, 97

Deafness, Autosomal Recessive, Type 97

Exfoliation Syndrome

Pseudoexfoliation Glaucoma

Pseudoexfoliation Syndrome

Exfoliation Syndrome, Susceptibility To

XFS

Exfoliation Glaucoma

Xfg

Pseudoexfoliation Of The Lens

Pexg

Pexs

Exfoliative Syndrome

Glaucoma Capsulare

Pex

Pseudo-Exfoliation Syndrome

Granulomatosis With Polyangiitis

GPA

Wegener Granulomatosis

Wegener Granulomatosis, Formerly

Midline Granulomatosis

Wg, Formerly

Necrotizing Respiratory Granulomatosis

Wg

Wegeners Granulomatosis

Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis

Childhood Hepatocellular Carcinoma

Pediatric Hepatocellular Carcinoma

Childhood Carcinoma Of Liver Cell

Childhood Hepatoma

Childhood Liver Cell Carcinoma

Pediatric Carcinoma Of Liver Cell

Pediatric Hepatoma

Pediatric Liver Cell Carcinoma

Childhood-Onset Hcc

Childhood-Onset Hepatocellular Carcinoma

Pediatric Hcc

Childhood Liver Cancer

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma

Hereditary Papillary Renal Cell Carcinoma

Papillary Renal Cell Carcinoma, Sporadic

Papillary Renal Cell Adenocarcinoma

RCCP

RCCP1

Renal Cell Carcinoma, Papillary

Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

Chromophil Carcinoma Of Kidney

Papillary Kidney Carcinoma

Sporadic Papillary Renal Cell Carcinoma

Chromophil Renal Cell Carcinoma

Papillary Renal Carcinoma, Malignant -

Papillary Renal Cell Carcinoma, Bilateral -

Papillary Renal Cell Carcinoma, Familial -

Papillary Renal Cell Carcinoma, Multiple -

Papillary Renal Cell Carcinoma, Sporadic -

Renal Adenocarcinoma

Chromophil Rcc

Hprcc

Renal Cell Carcinoma Papillary

Chromophilic Renal Cell Carcinoma

Prcc

Carcinoma, Renal Cell, Papillary, Type 1

Type 1 Papillary Renal Cell Carcinoma

Renal Cell Carcinoma

Hereditary Papillary Renal Carcinoma

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

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
Rattus norvegicus SEMA6A RGD RGD:1305493
Bos taurus SEMA6A VGNC VGNC:34441
Mus musculus SEMA6A MGD MGI:1203727
Felis catus SEMA6A VGNC VGNC:64999
Canis familiaris SEMA6A VGNC VGNC:46001
Macaca mulatta SEMA6A VGNC VGNC:77171
Others SEMA6A NCBI