1. Gene
  2. SEMA3E - semaphorin 3E Gene

SEMA3E - semaphorin 3E Gene

Homo sapiens

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

Gene ID: 9723 | Gene type: protein coding

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 Reference Source
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 Reference Source
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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SEMA3E O15041 PLXND1 Homo sapiens Q9Y4D7 17318185
Intra
SEMA3E O15041 PLXND1 Homo sapiens Q9Y4D7
SPR
17318185
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

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

Orthologs Information

Species Symbol Source 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