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Aliases for SEMA6A Gene

Aliases for SEMA6A Gene

  • Semaphorin 6A 2 3 5
  • Sema VIa 2 3 4
  • Sema Domain, Transmembrane Domain (TM), And Cytoplasmic Domain, (Semaphorin) 6A 2 3
  • Semaphorin VIA 3 4
  • SEMA6A-1 3 4
  • SEMAQ 3 4
  • Semaphorin 6A-1 3
  • Semaphorin-6A-1 4
  • Semaphorin-6A 3
  • KIAA1368 4
  • SEMA6A1 3
  • HT018 3
  • SemA 3
  • VIA 3

External Ids for SEMA6A Gene

Previous HGNC Symbols for SEMA6A Gene

  • SEMAQ

Previous GeneCards Identifiers for SEMA6A Gene

  • GC05M115548
  • GC05M116186
  • GC05M115810
  • GC05M115855
  • GC05M115858
  • GC05M115807
  • GC05M110960

Summaries for SEMA6A Gene

Entrez Gene Summary for SEMA6A Gene

  • 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]

GeneCards Summary for SEMA6A Gene

SEMA6A (Semaphorin 6A) is a Protein Coding gene. Among its related pathways are Developmental Biology and Spinal Cord Injury. GO annotations related to this gene include receptor activity and semaphorin receptor binding. An important paralog of this gene is SEMA6D.

UniProtKB/Swiss-Prot for SEMA6A Gene

  • Cell surface receptor for PLXNA2 that plays an important role in cell-cell signaling. Required for normal granule cell migration in the developing cerebellum. Promotes reorganization of the actin cytoskeleton and plays an important role in axon guidance in the developing central nervous system. Can act as repulsive axon guidance cue. Has repulsive action towards migrating granular neurons. May play a role in channeling sympathetic axons into the sympathetic chains and controlling the temporal sequence of sympathetic target innervation (By similarity).

Gene Wiki entry for SEMA6A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEMA6A Gene

Genomics for SEMA6A Gene

Regulatory Elements for SEMA6A Gene

Enhancers for SEMA6A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F116453 1.2 Ensembl ENCODE 20.6 +120.3 120293 3.0 HDGF PKNOX1 TBL1XR1 SIN3A FEZF1 RAD21 SCRT2 ZNF143 ETV6 KLF7 SEMA6A SEMA6A-AS2 COMMD10 SEMA6A-AS1 GC05P116544
GH05F116523 1.6 FANTOM5 Ensembl ENCODE 13.4 +43.5 43463 15.0 PKNOX1 MLX ARID4B FEZF1 DMAP1 ZNF2 CBX5 FOS ZNF263 SP3 SEMA6A SEMA6A-AS2 SEMA6A-AS1 RNU6-644P GC05P116544
GH05F116553 0.7 ENCODE 11.7 +21.3 21273 0.9 SMARCA4 FEZF1 SEMA6A SEMA6A-AS2 GC05M116552 GC05P116544
GH05F116759 0.9 Ensembl ENCODE 11.6 -185.1 -185140 2.0 CEBPA TCF7 CEBPB NR2F6 ZIC2 SEMA6A SEMA6A-AS2 ATG12 LOC102467223 RPS17P2
GH05F116947 0.9 ENCODE 11.4 -373.1 -373111 1.1 ARID4B ZNF48 ZNF2 ETS1 ZNF121 CBX5 ZNF143 ZNF207 ZNF263 TBX21 SEMA6A SEMA6A-AS2 LOC105379137 LOC105379135
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SEMA6A on UCSC Golden Path with GeneCards custom track

Promoters for SEMA6A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001288127 934 5601 HDGF PKNOX1 SIN3A ARID4B FEZF1 ZNF2 ZNF143 ZNF207 ZNF548 ZNF263

Genomic Location for SEMA6A Gene

Chromosome:
5
Start:
116,443,555 bp from pter
End:
116,574,934 bp from pter
Size:
131,380 bases
Orientation:
Minus strand

Genomic View for SEMA6A Gene

Genes around SEMA6A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEMA6A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEMA6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEMA6A Gene

Proteins for SEMA6A Gene

  • Protein details for SEMA6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2E6-SEM6A_HUMAN
    Recommended name:
    Semaphorin-6A
    Protein Accession:
    Q9H2E6
    Secondary Accessions:
    • Q9P2H9

    Protein attributes for SEMA6A Gene

    Size:
    1030 amino acids
    Molecular mass:
    114395 Da
    Quaternary structure:
    • Active as a homodimer or oligomer. The SEMA6A homodimer interacts with a PLXNA2 homodimer, giving rise to a heterotetramer (By similarity). Interacts with EVL.
    SequenceCaution:
    • Sequence=BAA92606.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SEMA6A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEMA6A Gene

Post-translational modifications for SEMA6A Gene

  • Glycosylation at Asn 33, Asn 49, Asn 65, Asn 282, Asn 434, and Asn 461
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for SEMA6A (Semaphorin 6A)
  • Santa Cruz Biotechnology (SCBT) Antibodies for SEMA6A

No data available for DME Specific Peptides for SEMA6A Gene

Domains & Families for SEMA6A Gene

Gene Families for SEMA6A Gene

Suggested Antigen Peptide Sequences for SEMA6A Gene

Graphical View of Domain Structure for InterPro Entry

Q9H2E6

UniProtKB/Swiss-Prot:

SEM6A_HUMAN :
  • Contains 1 PSI domain.
  • Belongs to the semaphorin family.
Domain:
  • Contains 1 PSI domain.
  • Contains 1 Sema domain.
Family:
  • Belongs to the semaphorin family.
genes like me logo Genes that share domains with SEMA6A: view

Function for SEMA6A Gene

Molecular function for SEMA6A Gene

UniProtKB/Swiss-Prot Function:
Cell surface receptor for PLXNA2 that plays an important role in cell-cell signaling. Required for normal granule cell migration in the developing cerebellum. Promotes reorganization of the actin cytoskeleton and plays an important role in axon guidance in the developing central nervous system. Can act as repulsive axon guidance cue. Has repulsive action towards migrating granular neurons. May play a role in channeling sympathetic axons into the sympathetic chains and controlling the temporal sequence of sympathetic target innervation (By similarity).

Gene Ontology (GO) - Molecular Function for SEMA6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005515 protein binding IPI 10993894
GO:0030215 semaphorin receptor binding IBA --
GO:0045499 chemorepellent activity IBA --
genes like me logo Genes that share ontologies with SEMA6A: view
genes like me logo Genes that share phenotypes with SEMA6A: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEMA6A Gene

Localization for SEMA6A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEMA6A Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEMA6A Gene COMPARTMENTS Subcellular localization image for SEMA6A gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SEMA6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10993894
GO:0030424 axon NAS 10993894
genes like me logo Genes that share ontologies with SEMA6A: view

Pathways & Interactions for SEMA6A Gene

genes like me logo Genes that share pathways with SEMA6A: view

Pathways by source for SEMA6A Gene

1 BioSystems pathway for SEMA6A Gene
1 KEGG pathway for SEMA6A Gene

Gene Ontology (GO) - Biological Process for SEMA6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001755 neural crest cell migration IBA --
GO:0001764 neuron migration IEA --
GO:0006915 apoptotic process NAS 10993894
GO:0007010 cytoskeleton organization NAS 10993894
GO:0007166 cell surface receptor signaling pathway NAS 10993894
genes like me logo Genes that share ontologies with SEMA6A: view

No data available for SIGNOR curated interactions for SEMA6A Gene

Transcripts for SEMA6A Gene

Unigene Clusters for SEMA6A Gene

Sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEMA6A Gene

No ASD Table

Relevant External Links for SEMA6A Gene

GeneLoc Exon Structure for
SEMA6A
ECgene alternative splicing isoforms for
SEMA6A

Expression for SEMA6A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEMA6A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEMA6A Gene

This gene is overexpressed in Adrenal Gland (x5.0).

Protein differential expression in normal tissues from HIPED for SEMA6A Gene

This gene is overexpressed in Vitreous humor (57.6) and Peripheral blood mononuclear cells (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SEMA6A Gene



Protein tissue co-expression partners for SEMA6A Gene

NURSA nuclear receptor signaling pathways regulating expression of SEMA6A Gene:

SEMA6A

SOURCE GeneReport for Unigene cluster for SEMA6A Gene:

Hs.156967
genes like me logo Genes that share expression patterns with SEMA6A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SEMA6A Gene

Orthologs for SEMA6A Gene

This gene was present in the common ancestor of animals.

Orthologs for SEMA6A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEMA6A 34 35
  • 99.61 (n)
oppossum
(Monodelphis domestica)
Mammalia SEMA6A 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEMA6A 34 35
  • 92.3 (n)
cow
(Bos Taurus)
Mammalia SEMA6A 34 35
  • 91.04 (n)
rat
(Rattus norvegicus)
Mammalia Sema6a 34
  • 90.06 (n)
mouse
(Mus musculus)
Mammalia Sema6a 34 16 35
  • 89.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEMA6A 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEMA6A 34 35
  • 82.99 (n)
lizard
(Anolis carolinensis)
Reptilia SEMA6A 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sema6a 34
  • 74.86 (n)
Str.2597 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16239 34
zebrafish
(Danio rerio)
Actinopterygii sema6a 34 35
  • 69.5 (n)
wufj46c12 34
fruit fly
(Drosophila melanogaster)
Insecta Sema-1b 36
  • 41 (a)
CG4383 36
  • 35 (a)
Sema-1a 36
  • 35 (a)
Sema-2a 36 35
  • 33 (a)
Sema-2b 35
  • 26 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea mab-20 36
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
Species where no ortholog for SEMA6A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 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)

Evolution for SEMA6A Gene

ENSEMBL:
Gene Tree for SEMA6A (if available)
TreeFam:
Gene Tree for SEMA6A (if available)

Paralogs for SEMA6A Gene

Paralogs for SEMA6A Gene

genes like me logo Genes that share paralogs with SEMA6A: view

Variants for SEMA6A Gene

Sequence variations from dbSNP and Humsavar for SEMA6A Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10037507 -- 116,530,499(+) TACCG(G/T)ATTAA intron-variant
rs10037569 -- 116,574,743(+) CTGCT(A/G)GGTTC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs10039004 -- 116,518,550(+) AAACT(A/G)AAGTG intron-variant
rs10039423 -- 116,467,941(+) GCCCA(C/T)TGAAC intron-variant
rs10040008 -- 116,528,302(+) TATAA(C/T)GTGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SEMA6A Gene

Variant ID Type Subtype PubMed ID
dgv210n6 CNV deletion 16902084
dgv3157n106 CNV deletion 24896259
esv2061795 CNV deletion 18987734
esv2549113 CNV deletion 19546169
esv2730635 CNV deletion 23290073
esv3227 CNV loss 18987735
esv3566513 CNV deletion 23714750
esv5985 CNV loss 19470904
nsv1074326 CNV deletion 25765185
nsv518494 CNV loss 19592680
nsv956446 CNV deletion 24416366
nsv964926 CNV duplication 23825009

Variation tolerance for SEMA6A Gene

Residual Variation Intolerance Score: 9.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.46; 64.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEMA6A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEMA6A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEMA6A Gene

Disorders for SEMA6A Gene

Relevant External Links for SEMA6A

Genetic Association Database (GAD)
SEMA6A
Human Genome Epidemiology (HuGE) Navigator
SEMA6A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEMA6A

No disorders were found for SEMA6A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SEMA6A Gene

Publications for SEMA6A Gene

  1. The orthologous human and murine semaphorin 6A-1 proteins (SEMA6A- 1/Sema6A-1) bind to the enabled/vasodilator-stimulated phosphoprotein- like protein (EVL) via a novel carboxyl-terminal zyxin-like domain. (PMID: 10993894) Klostermann A. … Behl C. (J. Biol. Chem. 2000) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PMID: 19451621) Landers J.E. … Brown R.H. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 46 64
  4. The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations. (PMID: 19578876) Johnson M.P. … Moses E.K. (Hum. Genet. 2009) 3 46 64
  5. From plasma membrane to cytoskeleton: a novel function for semaphorin 6A. (PMID: 18187809) Prislei S. … Ferlini C. (Mol. Cancer Ther. 2008) 3 22 64

Products for SEMA6A Gene

Sources for SEMA6A Gene

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