SEMA3C - semaphorin 3C Gene

Also Known as SemE; SEMAE

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10512

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
33961781 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

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

SEMA3C Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SEMA3C Q99985 TTC38 Homo sapiens Q5R3I4 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SEMA3C Proteins

Cat. No. Product Name Accession Purity
HY-P71282 Semaphorin-3C/SEMA3C Protein, Human (HEK293, His, solution) Q99985-1 (G21-S738) ≥ 95%, as determined by reducing SDS-PAGE.

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