SEMA3E - semaphorin 3E Gene

Also Known as SEMAH; coll-5; M-SEMAH; M-SemaK

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 9723

About SEMA3E

Cytogenetic location: 7q21.11 Genomic coordinates (GRCh38): 7:83,363,238-83,649,139 (from NCBI)

This gene has 6 transcripts (splice variants), 202 orthologues, 19 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 3.1), gall bladder (RPKM 2.2) and 13 other tissues.

Summary

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

SEMA3E Products (2)

mRNA Protein Name
NM_001178129.2 NP_001171600.1 semaphorin-3E isoform 2
NM_012431.3 NP_036563.1 semaphorin-3E isoform 1 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
17318185 GOA
enables receptor ligand activity IDA
IDA: Inferred from direct assay
25985275 GOA
enables semaphorin receptor binding IPI
IPI: Inferred from physical interaction
25985275 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in gonadotrophin-releasing hormone neuronal migration to the hypothalamus IDA
IDA: Inferred from direct assay
25985275 GOA
involved in negative regulation of neuron apoptotic process IDA
IDA: Inferred from direct assay
25985275 GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: Inferred from direct assay
25985275 GOA
involved in semaphorin-plexin signaling pathway IGI
IGI: Inferred from genetic interaction
25985275 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SEMA3E Protein Structure

Sema

Sema: Sema domain (59 - 500)

ig

ig: Immunoglobulin domain (596 - 655)

  • 0
  • 200
  • 400
  • 600
  • 775 a.a.
Protein Preferred Names Protein Names

semaphorin-3E

  • sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E

SEMA3E Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
SEMA3E O15041 PLXND1 Homo sapiens Q9Y4D7
Crosslink
17318185
Intra
SEMA3E O15041 PLXND1 Homo sapiens Q9Y4D7
SPR
17318185
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Charge Syndrome

  • Charge Association

  • Hall-Hittner Syndrome

  • Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

  • Hhs

  • Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

  • Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

  • CHARGES
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia

  • Idiopathic Hypogonadotropic Hypogonadism

  • HH7

  • Hypogonadism, Isolated Hypogonadotropic

  • Ihh

  • Hypogonadism, Isolated, Hypogonadotropic

  • Hypogonadotropic Hypogonadism

  • Isolated Hypogonadotropic Hypogonadism

  • Hypogonadotropic Hypogonadism 7 Without Anosmia

  • Congenital Hypogonadotropic Hypogonadism Normosmic

  • Hh

  • Klinefelter Syndrome

  • Isolated Gonadotropin Deficiency
Cardiomyopathy, Dilated, 1a

  • Dilated Cardiomyopathy 1a

  • Cdcd1

  • CMD1A

  • Cardiomyopathy, Familial Idiopathic

  • Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

  • Cardiomyopathy, Dilated, With Conduction Defect 1

  • Cardiomyopathy, Idiopathic Dilated

  • Cardiomyopathy, Congestive

  • Dilated Cardiomyopathy With Conduction Defect 1

  • Cardiomyopathy Dilated With Conduction Defect Type 1

  • Cardiomyopathy, Dilated 1a

  • Cardiomyopathy Dilated With Conduction Defect 1

  • Cardiomyopathy, Dilated, Type 1a
Cardiomyopathy, Dilated, 1h

  • Dilated Cardiomyopathy 1h

  • Dilated Cardiomyopathy With Conduction Defect

  • CMD1H

  • Cardiomyopathy, Dilated, With Conduction Defect
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
Dilated Cardiomyopathy

  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy
Cone-Rod Dystrophy 10

  • CORD10

  • Dystrophy, Cone-Rod, Type 10
Choanal Atresia, Posterior

  • Choanal Atresia

  • Atresia Of Nares

  • Posterior Choanal Atresia

  • PCA

  • Imperforate Nares

  • Choanal Fusion

  • Congenital Stenosis Of Nares

  • Congenital Stenosis Of Choanae

  • Nasal Atresia Nos
Coloboma Of Macula

  • Coloboma

  • Congenital Ocular Coloboma

  • Microphthalmia, Isolated, With Coloboma

  • Agenesis Of Macula

  • Hereditary Macular Coloboma

  • Ocular Coloboma

  • Coloboma Of Eye

  • Macular Coloboma

  • Uveoretinal Coloboma
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS12654 SEMA3E Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Canis familiaris SEMA3E VGNC VGNC:45991
Bos taurus SEMA3E VGNC VGNC:34430
Felis catus SEMA3E VGNC VGNC:64989
Rattus norvegicus SEMA3E RGD RGD:1310973
Macaca mulatta SEMA3E VGNC VGNC:77163
Mus musculus SEMA3E MGD MGI:1340034
Others SEMA3E NCBI