SEMA6A - semaphorin 6A Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57556

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
Molecular Function GO Annotation Evidence References 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%, as determined by reducing SDS-PAGE.

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