1. Gene
  2. SEMA6B - semaphorin 6B Gene

SEMA6B - semaphorin 6B Gene

中文名称:信号素 6B

种属: Homo sapiens

同用名: EPM11; SEMAN; semaZ; SEMA-VIB; SEM-SEMA-Y; SEM-SEMA-Z

基因 ID: 10501 | 基因类型: protein coding

关于 SEMA6B

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:4,542,593-4,559,684 (from NCBI)

This gene has 5 transcripts (splice variants), 262 orthologues, 19 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 18.7), spleen (RPKM 8.6) and 15 other tissues.

功能概要

该基因编码信号蛋白家族的一个成员,信号蛋白家族是一组以存在保守信号蛋白 (sema) 结构域为特征的蛋白质。一些信号蛋白是跨膜蛋白,而其他信号蛋白是分泌的。信号蛋白在轴突导向中起着重要作用。由该基因编码的蛋白质可能参与周围和中枢神经系统的发育。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, Others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]

SEMA6B 基因产物(1)

mRNA Protein Name
NM_032108.4 NP_115484.2 semaphorin-6B precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32302524 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in central nervous system development IMP
IMP: 通过突变表型推断
32169168 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

SEMA6B 蛋白结构

Sema

Sema: Sema domain (73 - 480)

PSI

PSI: Plexin repeat (525 - 562)

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

semaphorin-6B

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B

关联疾病

疾病名称 别名
Epilepsy, Progressive Myoclonic, 11

EPM11

Epilepsy, Progressive Myoclonic 11

Epilepsy, Progressive Myoclonic, Type 11

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Diffuse Glomerulonephritis

Glomerulonephritis Diffuse

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

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
Mus musculus SEMA6B MGD MGI:1202889
Felis catus SEMA6B VGNC VGNC:65000
Canis familiaris SEMA6B VGNC VGNC:46002
Bos taurus SEMA6B VGNC VGNC:34442
Rattus norvegicus SEMA6B RGD RGD:69278