1. Gene
  2. SEMA4A - semaphorin 4A Gene

SEMA4A - semaphorin 4A Gene

Homo sapiens

Also known as RP35; SEMB; SEMAB; CORD10

Gene ID: 64218 | Gene type: protein coding

About SEMA4A

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,147,373-156,177,744 (from NCBI)

This gene has 15 transcripts (splice variants), 121 orthologues, 19 paralogues and is associated with 6 phenotypes. Broad expression in skin (RPKM 12.9), lymph node (RPKM 12.8) and 20 other tissues.

Summary

This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

SEMA4A Products(8)

mRNA Protein Name
NM_001193300.2 NP_001180229.1 semaphorin-4A isoform 1 precursor
NM_001193301.2 NP_001180230.1 semaphorin-4A isoform 1 precursor
NM_001193302.2 NP_001180231.1 semaphorin-4A isoform 2
NM_001370567.1 NP_001357496.1 semaphorin-4A isoform 1 precursor
NM_001370568.1 NP_001357497.1 semaphorin-4A isoform 3
NM_001370569.1 NP_001357498.1 semaphorin-4A isoform 4
NM_001370571.1 NP_001357500.1 semaphorin-4A isoform 4
NM_022367.4 NP_071762.2 semaphorin-4A isoform 1 precursor

SEMA4A Protein Structure

Sema

Sema: Sema domain (64 - 477)

PSI

PSI: Plexin repeat (496 - 537)

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

semaphorin-4A

sema B

Recombinant SEMA4A Proteins

Cat. No. Product Name Accession Purity
HY-P76055 Semaphorin-4A/SEMA4A Protein, Human (HEK293, Fc) Q9H3S1-1 (G33-H683) ≥95%
HY-P76056 Semaphorin-4A/SEMA4A Protein, Human (HEK293, His) Q9H3S1-1 (G33-H683) ≥95%

Related Diseases

Diseases Alias
Cone-Rod Dystrophy 10

CORD10

Dystrophy, Cone-Rod, Type 10

Retinitis Pigmentosa 35

RP35

Retinitis Pigmentosa-35

Retinitis Pigmentosa, Type 35

Sveinsson Chorioretinal Atrophy

SCRA

Atrophia Areata

Helicoid Peripapillary Chorioretinal Degeneration

Hpcd

Aa

Peripapillary Chorioretinal Degeneration, Icelandic Type

Helicoidal Peripapillary Chorioretinal Degeneration

Atrophy, Chorioretinal, Sveinsson

Familial Colorectal Cancer Type X

Fcctx

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Retinitis
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinal Cone Dystrophy 1

RCD1

Retinal Cone Dystrophy-1

Retinal Cone Degeneration

Cone Dystrophy, Autosomal Dominant

Cone Dystrophy Autosomal Dominant

Doid:0081024

Night Blindness, Congenital Stationary, Autosomal Dominant 1

Congenital Stationary Night Blindness Autosomal Dominant 1

CSNBAD1

Rhodopsin-Related Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary, Rhodopsin-Related

Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1

Retinal Degeneration

Degeneration Of Retina

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

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
Bos taurus SEMA4A VGNC VGNC:34433
Felis catus SEMA4A VGNC VGNC:64992
Macaca mulatta SEMA4A VGNC VGNC:81565
Rattus norvegicus SEMA4A RGD RGD:1304636
Canis familiaris SEMA4A VGNC VGNC:45994
Mus musculus SEMA4A MGD MGI:107560
Others SEMA4A NCBI