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

SEMA3E Protein Structure

Sema

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12654	SEMA3E Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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