2. Gene
  3. SEMA4A - semaphorin 4A Gene

SEMA4A - semaphorin 4A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：信号素 4A

种属: Homo sapiens

同用名: RP35; SEMB; SEMAB; CORD10

基因 ID: 64218 | 基因类型: protein coding

关于 SEMA4A

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,147,373-156,177,744 (from NCBI)

This gene has 15 transcripts (splice variants), 121 orthologues, 19 paralogues and is associated with 6 phenotypes. Broad expression in skin (RPKM 12.9), lymph node (RPKM 12.8) and 20 other tissues.

功能概要

该基因编码可溶性和跨膜蛋白信号素家族的成员。脑信号素参与多种功能，包括轴突导向、形态发生、致癌作用和免疫调节。编码的蛋白质是单程 I 型膜蛋白，包含免疫球蛋白样 C2 型结构域、PSI 结构域和 sema 结构域。它通过提供局部信号来指定生长轴突无法进入的区域来抑制轴突延伸。它是 T 细胞介导的免疫激活剂，抑制血管内皮生长因子 (VEGF) 介导的内皮细胞体外迁移和增殖以及体内血管生成。该基因的突变与视网膜退行性疾病相关，包括 35 型视网膜色素变性 (RP35) 和 10 型视锥细胞营养不良 (CORD10) 。已鉴定出编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供，2010 年 9 月]

This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

SEMA4A 基因产物(8)

mRNA Protein Name
NM_001193300.2 NP_001180229.1 semaphorin-4A isoform 1 precursor
NM_001193301.2 NP_001180230.1 semaphorin-4A isoform 1 precursor
NM_001193302.2 NP_001180231.1 semaphorin-4A isoform 2
NM_001370567.1 NP_001357496.1 semaphorin-4A isoform 1 precursor
NM_001370568.1 NP_001357497.1 semaphorin-4A isoform 3
NM_001370569.1 NP_001357498.1 semaphorin-4A isoform 4
NM_001370571.1 NP_001357500.1 semaphorin-4A isoform 4
NM_022367.4 NP_071762.2 semaphorin-4A isoform 1 precursor
基因本体论
  • 分子功能
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
17318185 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

SEMA4A 蛋白结构

Sema

Sema: Sema domain (64 - 477)

PSI

PSI: Plexin repeat (496 - 537)

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

semaphorin-4A

sema B

SEMA4A 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SEMA4A Q9H3S1 PLXND1 Homo sapiens Q9Y4D7
SPR
17318185
种属内
SEMA4A Q9H3S1 PLXND1 Homo sapiens Q9Y4D7
Crosslink
17318185
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SEMA4A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76055 Semaphorin-4A/SEMA4A Protein, Human (HEK293, Fc) Q9H3S1-1 (G33-H683) ≥95%
HY-P76056 Semaphorin-4A/SEMA4A Protein, Human (HEK293, His) Q9H3S1-1 (G33-H683) ≥95%

关联疾病

疾病名称 别名
Cone-Rod Dystrophy 10

CORD10

Dystrophy, Cone-Rod, Type 10
Retinitis Pigmentosa 35

RP35

Retinitis Pigmentosa-35

Retinitis Pigmentosa, Type 35
Sveinsson Chorioretinal Atrophy

SCRA

Atrophia Areata

Helicoid Peripapillary Chorioretinal Degeneration

Hpcd

Aa

Peripapillary Chorioretinal Degeneration, Icelandic Type

Helicoidal Peripapillary Chorioretinal Degeneration

Atrophy, Chorioretinal, Sveinsson
Familial Colorectal Cancer Type X

Fcctx
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Retinitis
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Retinal Cone Dystrophy 1

RCD1

Retinal Cone Dystrophy-1

Retinal Cone Degeneration

Cone Dystrophy, Autosomal Dominant

Cone Dystrophy Autosomal Dominant

Doid:0081024
Night Blindness, Congenital Stationary, Autosomal Dominant 1

Congenital Stationary Night Blindness Autosomal Dominant 1

CSNBAD1

Rhodopsin-Related Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary, Rhodopsin-Related

Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1
Retinal Degeneration

Degeneration Of Retina
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12657 SEMA4A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus SEMA4A VGNC VGNC:34433
Felis catus SEMA4A VGNC VGNC:64992
Macaca mulatta SEMA4A VGNC VGNC:81565
Rattus norvegicus SEMA4A RGD RGD:1304636
Canis familiaris SEMA4A VGNC VGNC:45994
Mus musculus SEMA4A MGD MGI:107560
Others SEMA4A NCBI
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