1. Gene
  2. SEMA6A - semaphorin 6A Gene

SEMA6A - semaphorin 6A Gene

Homo sapiens

Also known as VIA; SEMA; HT018; SEMAQ; SEMA6A1

Gene ID: 57556 | Gene type: protein coding

About SEMA6A

Cytogenetic location: 5q23.1 Genomic coordinates (GRCh38): 5:116,443,555-116,574,823 (from NCBI)

This gene has 15 transcripts (splice variants), 221 orthologues and 19 paralogues. Broad expression in adrenal (RPKM 13.5), placenta (RPKM 11.0) and 24 other tissues.

Summary

The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011]

SEMA6A Products(2)

mRNA Protein Name
NM_001300780.2 NP_001287709.1 semaphorin-6A isoform 1 precursor
NM_020796.5 NP_065847.1 semaphorin-6A isoform 2 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
10993894 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

SEMA6A Protein Structure

Sema

Sema: Sema domain (60 - 475)

PSI

PSI: Plexin repeat (514 - 555)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1030 a.a.
Protein Preferred Names Protein Names

semaphorin-6A

SEMA6A-1

Recombinant SEMA6A Proteins

Cat. No. Product Name Accession Purity
HY-P76057 Semaphorin-6A/SEMA6A Protein, Human (HEK293, His) Q9H2E6-1 (G19-T649) ≥95%

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 97

DFNB97

Autosomal Recessive Nonsyndromic Deafness 97

Autosomal Recessive Deafness 97

Deafness, Autosomal Recessive, 97

Deafness, Autosomal Recessive, Type 97

Exfoliation Syndrome

Pseudoexfoliation Glaucoma

Pseudoexfoliation Syndrome

Exfoliation Syndrome, Susceptibility To

XFS

Exfoliation Glaucoma

Xfg

Pseudoexfoliation Of The Lens

Pexg

Pexs

Exfoliative Syndrome

Glaucoma Capsulare

Pex

Pseudo-Exfoliation Syndrome

Granulomatosis With Polyangiitis

GPA

Wegener Granulomatosis

Wegener Granulomatosis, Formerly

Midline Granulomatosis

Wg, Formerly

Necrotizing Respiratory Granulomatosis

Wg

Wegeners Granulomatosis

Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis

Childhood Hepatocellular Carcinoma

Pediatric Hepatocellular Carcinoma

Childhood Carcinoma Of Liver Cell

Childhood Hepatoma

Childhood Liver Cell Carcinoma

Pediatric Carcinoma Of Liver Cell

Pediatric Hepatoma

Pediatric Liver Cell Carcinoma

Childhood-Onset Hcc

Childhood-Onset Hepatocellular Carcinoma

Pediatric Hcc

Childhood Liver Cancer

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma

Hereditary Papillary Renal Cell Carcinoma

Papillary Renal Cell Carcinoma, Sporadic

Papillary Renal Cell Adenocarcinoma

RCCP

RCCP1

Renal Cell Carcinoma, Papillary

Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

Chromophil Carcinoma Of Kidney

Papillary Kidney Carcinoma

Sporadic Papillary Renal Cell Carcinoma

Chromophil Renal Cell Carcinoma

Papillary Renal Carcinoma, Malignant -

Papillary Renal Cell Carcinoma, Bilateral -

Papillary Renal Cell Carcinoma, Familial -

Papillary Renal Cell Carcinoma, Multiple -

Papillary Renal Cell Carcinoma, Sporadic -

Renal Adenocarcinoma

Chromophil Rcc

Hprcc

Renal Cell Carcinoma Papillary

Chromophilic Renal Cell Carcinoma

Prcc

Carcinoma, Renal Cell, Papillary, Type 1

Type 1 Papillary Renal Cell Carcinoma

Renal Cell Carcinoma

Hereditary Papillary Renal Carcinoma

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

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

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
Rattus norvegicus SEMA6A RGD RGD:1305493
Bos taurus SEMA6A VGNC VGNC:34441
Mus musculus SEMA6A MGD MGI:1203727
Felis catus SEMA6A VGNC VGNC:64999
Canis familiaris SEMA6A VGNC VGNC:46001
Macaca mulatta SEMA6A VGNC VGNC:77171
Others SEMA6A NCBI