SEMA4A - semaphorin 4A Gene

Also Known as RP35; SEMB; SEMAB; CORD10

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64218

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
17318185 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

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

SEMA4A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SEMA4A Q9H3S1 PLXND1 Homo sapiens Q9Y4D7
SPR
17318185
Intra
SEMA4A Q9H3S1 PLXND1 Homo sapiens Q9Y4D7 17318185
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SEMA4A Proteins

Cat. No. Product Name Accession Purity
HY-P76055 Semaphorin-4A/SEMA4A Protein, Human (HEK293, Fc) Q9H3S1-1 (G33-H683) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P76056 Semaphorin-4A/SEMA4A Protein, Human (HEK293, His) Q9H3S1-1 (G33-H683) ≥ 90%, as determined by reducing SDS-PAGE.

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