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Aliases for SEMA4A Gene

Aliases for SEMA4A Gene

  • Sema Domain, Immunoglobulin Domain (Ig), Transmembrane Domain (TM) And Short Cytoplasmic Domain, (Semaphorin) 4A 2 3
  • SEMB 3 4 6
  • Semaphorin-B 3 4
  • CORD10 3 6
  • Sema B 3 4
  • SEMAB 3 4
  • RP35 3 6
  • Semaphorin-4A 3

External Ids for SEMA4A Gene

Previous HGNC Symbols for SEMA4A Gene

  • SEMAB

Previous GeneCards Identifiers for SEMA4A Gene

  • GC00U990481
  • GC01P153341
  • GC01P152934
  • GC01P154386
  • GC01P127481

Summaries for SEMA4A Gene

Entrez Gene Summary for SEMA4A Gene

  • 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]

GeneCards Summary for SEMA4A Gene

SEMA4A (Sema Domain, Immunoglobulin Domain (Ig), Transmembrane Domain (TM) And Short Cytoplasmic Domain, (Semaphorin) 4A) is a Protein Coding gene. Diseases associated with SEMA4A include cone-rod dystrophy 10 and sema4a-related retinitis pigmentosa. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include receptor activity. An important paralog of this gene is SEMA4G.

UniProtKB/Swiss-Prot for SEMA4A Gene

  • Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling. Plays a role in priming antigen-specific T-cells, promotes differentiation of Th1 T-helper cells, and thereby contributes to adaptive immunity. Promotes phosphorylation of TIMD2. Inhibits angiogenesis. Promotes axon growth cone collapse. Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons (By similarity).

Gene Wiki entry for SEMA4A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEMA4A Gene

Genomics for SEMA4A Gene

Regulatory Elements for SEMA4A Gene

Genomic Location for SEMA4A Gene

Start:
156,147,366 bp from pter
End:
156,177,752 bp from pter
Size:
30,387 bases
Orientation:
Plus strand

Genomic View for SEMA4A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SEMA4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEMA4A Gene

Proteins for SEMA4A Gene

  • Protein details for SEMA4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3S1-SEM4A_HUMAN
    Recommended name:
    Semaphorin-4A
    Protein Accession:
    Q9H3S1
    Secondary Accessions:
    • B2RDH8
    • B3KR76
    • Q5TCI5
    • Q5TCJ6
    • Q8WUA9

    Protein attributes for SEMA4A Gene

    Size:
    761 amino acids
    Molecular mass:
    83574 Da
    Quaternary structure:
    • Interacts with PLXNB1, PLXNB2, PLXNB3 and PLXND1. Probable ligand for TIMD2 (By similarity).

    Alternative splice isoforms for SEMA4A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEMA4A Gene

Proteomics data for SEMA4A Gene at MOPED

Post-translational modifications for SEMA4A Gene

  • Ubiquitination at Lys219 and Lys535
  • Glycosylation at Asn120, Asn135, Asn496, and Asn607
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for SEMA4A (Semaphorin 4A)

No data available for DME Specific Peptides for SEMA4A Gene

Domains for SEMA4A Gene

Gene Families for SEMA4A Gene

HGNC:

Suggested Antigen Peptide Sequences for SEMA4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H3S1

UniProtKB/Swiss-Prot:

SEM4A_HUMAN :
  • Q9H3S1
Domain:
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Contains 1 PSI domain.
  • Contains 1 Sema domain.
Family:
  • Belongs to the semaphorin family.
genes like me logo Genes that share domains with SEMA4A: view

Function for SEMA4A Gene

Molecular function for SEMA4A Gene

UniProtKB/Swiss-Prot Function:
Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling. Plays a role in priming antigen-specific T-cells, promotes differentiation of Th1 T-helper cells, and thereby contributes to adaptive immunity. Promotes phosphorylation of TIMD2. Inhibits angiogenesis. Promotes axon growth cone collapse. Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons (By similarity).

Gene Ontology (GO) - Molecular Function for SEMA4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IEA --
GO:0005515 protein binding IPI 17318185
genes like me logo Genes that share ontologies with SEMA4A: view
genes like me logo Genes that share phenotypes with SEMA4A: view

Animal Models for SEMA4A Gene

MGI Knock Outs for SEMA4A:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SEMA4A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SEMA4A Gene

Localization for SEMA4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEMA4A Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEMA4A Gene COMPARTMENTS Subcellular localization image for SEMA4A gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SEMA4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SEMA4A: view

Pathways for SEMA4A Gene

genes like me logo Genes that share pathways with SEMA4A: view

Pathways by source for SEMA4A Gene

1 KEGG pathway for SEMA4A Gene

Gene Ontology (GO) - Biological Process for SEMA4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0002292 T cell differentiation involved in immune response --
GO:0007275 multicellular organismal development --
GO:0007409 axonogenesis --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with SEMA4A: view

Transcripts for SEMA4A Gene

Unigene Clusters for SEMA4A Gene

Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SEMA4A

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEMA4A Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e ^
SP1: - - - - - - - - - - - - -
SP2: - - -
SP3: - -
SP4: - - - - -
SP5: - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - - - -
SP8: - - - - -
SP9: - - -
SP10: - - - - -
SP11: - - - - - -
SP12: - - - -
SP13: - - - - -
SP14: - - - - - -
SP15: - - - - - - - - -
SP16: - - - - - - - - - - - - - - - -
SP17: - - - -
SP18: - - - - -
SP19: - -
SP20:
SP21:

ExUns: 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - - -
SP5: - -
SP6: - -
SP7: -
SP8: -
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for SEMA4A Gene

GeneLoc Exon Structure for
SEMA4A
ECgene alternative splicing isoforms for
SEMA4A

Expression for SEMA4A Gene

mRNA expression in normal human tissues for SEMA4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEMA4A Gene

This gene is overexpressed in Whole Blood (16.4).

Protein differential expression in normal tissues for SEMA4A Gene

This gene is overexpressed in Heart (37.2), Monocytes (15.7), and Lymph node (8.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SEMA4A Gene

SOURCE GeneReport for Unigene cluster for SEMA4A Gene Hs.408846

genes like me logo Genes that share expressions with SEMA4A: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Expression partners for SEMA4A Gene

Orthologs for SEMA4A Gene

This gene was present in the common ancestor of chordates.

Orthologs for SEMA4A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEMA4A 35
  • 86.07 (n)
  • 84.49 (a)
SEMA4A 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEMA4A 35
  • 85.97 (n)
  • 84.3 (a)
SEMA4A 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sema4a 35
  • 83.46 (n)
  • 83.82 (a)
Sema4a 16
Sema4a 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEMA4A 35
  • 99.49 (n)
  • 99.85 (a)
SEMA4A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sema4a 35
  • 83.82 (n)
  • 84.08 (a)
oppossum
(Monodelphis domestica)
Mammalia SEMA4A 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEMA4A 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sema4a 35
  • 57.5 (n)
  • 49.35 (a)
Str.10445 35
zebrafish
(Danio rerio)
Actinopterygii sema4aa 36
  • 31 (a)
OneToMany
sema4ab 36
  • 31 (a)
OneToMany
Species with no ortholog for SEMA4A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SEMA4A Gene

ENSEMBL:
Gene Tree for SEMA4A (if available)
TreeFam:
Gene Tree for SEMA4A (if available)

Paralogs for SEMA4A Gene

genes like me logo Genes that share paralogs with SEMA4A: view

Variants for SEMA4A Gene

Sequence variations from dbSNP and Humsavar for SEMA4A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs7695 -- 156,177,535(+) GTCTT(C/T)CCTGA utr-variant-3-prime
rs510441 -- 156,160,177(+) TAGGT(A/G)TGTGA intron-variant
rs1003725 -- 156,160,863(-) CCCTG(C/G)ATGCC intron-variant
rs1208920 -- 156,169,748(-) gcccg(A/C)ccAGG intron-variant
rs1208921 -- 156,163,524(-) ggctg(G/T)tctca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SEMA4A Gene

Variant ID Type Subtype PubMed ID
nsv509513 CNV Insertion 20534489

Relevant External Links for SEMA4A Gene

HapMap Linkage Disequilibrium report
SEMA4A
Human Gene Mutation Database (HGMD)
SEMA4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEMA4A Gene

Disorders for SEMA4A Gene

(2) OMIM Diseases for SEMA4A Gene (607292)

UniProtKB/Swiss-Prot

SEM4A_HUMAN
  • Retinitis pigmentosa 35 (RP35) [MIM:610282]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:16199541}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cone-rod dystrophy 10 (CORD10) [MIM:610283]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269 PubMed:16199541}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SEMA4A

Genetic Association Database (GAD)
SEMA4A
Human Genome Epidemiology (HuGE) Navigator
SEMA4A
genes like me logo Genes that share disorders with SEMA4A: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for SEMA4A Gene

Publications for SEMA4A Gene

  1. Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. (PMID: 16199541) Abid A. … Khaliq S. (J. Med. Genet. 2006) 3 4 23
  2. Murine semaphorin D/collapsin is a member of a diverse gene family and creates domains inhibitory for axonal extension. (PMID: 7748561) PA1schel A.W. … Betz H. (Neuron 1995) 2 3
  3. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij J.C. … Florijn R.J. (Ophthalmology 2011) 3 48
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for SEMA4A Gene

Sources for SEMA4A Gene

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