1. Gene
  2. SEMA3C - semaphorin 3C Gene

SEMA3C - semaphorin 3C Gene

Homo sapiens

Also known as SemE; SEMAE

Gene ID: 10512 | Gene type: protein coding

About SEMA3C

Cytogenetic location: 7q21.11 Genomic coordinates (GRCh38): 7:80,742,538-80,922,389 (from NCBI)

This gene has 9 transcripts (splice variants), 200 orthologues, 19 paralogues and is associated with 1 phenotype. Broad expression in prostate (RPKM 41.1), urinary bladder (RPKM 40.3) and 20 other tissues.

Summary

This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, Integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in Cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]

SEMA3C Products(3)

mRNA Protein Name
NM_001350120.2 NP_001337049.1 semaphorin-3C isoform 1
NM_001350121.2 NP_001337050.1 semaphorin-3C isoform 3
NM_006379.5 NP_006370.1 semaphorin-3C isoform 2 precursor

SEMA3C Protein Structure

Sema

Sema: Sema domain (54 - 495)

I-set

I-set: Immunoglobulin I-set domain (590 - 661)

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

semaphorin-3C

sema E

Recombinant SEMA3C Proteins

Cat. No. Product Name Accession Purity
HY-P71282 Semaphorin-3C/SEMA3C Protein, Human (HEK293, His) Q99985 (G21-S738) ≥95%

Related Diseases

Diseases Alias
Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

Cone-Rod Dystrophy 10

CORD10

Dystrophy, Cone-Rod, Type 10

Dyslexia
Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

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

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

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
Macaca mulatta SEMA3C VGNC VGNC:77161
Bos taurus SEMA3C VGNC VGNC:34428
Felis catus SEMA3C VGNC VGNC:64987
Canis familiaris SEMA3C VGNC VGNC:45989
Rattus norvegicus SEMA3C RGD RGD:1309343
Mus musculus SEMA3C MGD MGI:107557
Others SEMA3C NCBI