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Aliases for SEMA3C Gene

Aliases for SEMA3C Gene

  • Semaphorin 3C 2 3 5
  • Sema Domain, Immunoglobulin Domain (Ig), Short Basic Domain, Secreted, (Semaphorin) 3C 2 3
  • Sema E 3 4
  • SEMAE 3 4
  • Semaphorin-3C 3
  • Semaphorin E 3
  • Semaphorin-E 4
  • SemE 3

External Ids for SEMA3C Gene

Previous HGNC Symbols for SEMA3C Gene

  • SEMAE

Previous GeneCards Identifiers for SEMA3C Gene

  • GC07M078907
  • GC07M079970
  • GC07M079983
  • GC07M080016
  • GC07M080209
  • GC07M080371
  • GC07M074974

Summaries for SEMA3C Gene

GeneCards Summary for SEMA3C Gene

SEMA3C (Semaphorin 3C) is a Protein Coding gene. Diseases associated with SEMA3C include Hirschsprung Disease 1 and Schizophreniform Disorder. Among its related pathways are Axon guidance. GO annotations related to this gene include receptor activity and semaphorin receptor binding. An important paralog of this gene is SEMA3F.

UniProtKB/Swiss-Prot for SEMA3C Gene

  • Binds to plexin family members and plays an important role in the regulation of developmental processes. Required for normal cardiovascular development during embryogenesis. Functions as attractant for growing axons, and thereby plays an important role in axon growth and axon guidance (By similarity).

Gene Wiki entry for SEMA3C Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEMA3C Gene

Genomics for SEMA3C Gene

Regulatory Elements for SEMA3C Gene

Enhancers for SEMA3C 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
GH07F080940 1.5 FANTOM5 Ensembl ENCODE 11.1 -20.0 -20004 4.7 SREBF2 SIN3A RAD21 RCOR1 FOS ZNF202 ZHX2 USF2 CEBPB ZNF592 SEMA3C CD36 GC07M080900
GH07F080880 1.2 Ensembl ENCODE 11.7 +39.0 39032 5.5 PKNOX1 SIN3A FEZF1 ZNF2 FOS SP3 TSHZ1 ZNF592 MBD2 SREBF1 SEMA3C GNAT3 GC07P080753
GH07F081211 1.1 FANTOM5 Ensembl ENCODE 12.5 -289.6 -289638 1.0 ZNF316 MAFK MGA SEMA3C LOC100420647 GC07M081312
GH07F081012 1.1 Ensembl ENCODE 10.7 -91.3 -91345 2.0 ELF3 PKNOX1 RAD21 YY1 FOS CREM MIXL1 CEBPB JUNB KAT8 SEMA3C GC07P080998 ENSG00000237896
GH07F080876 1 ENCODE 11 +45.1 45124 0.9 PKNOX1 SIN3A FEZF1 GLI4 BRCA1 ZNF2 ZNF121 GLIS2 KLF7 FOS ENSG00000237896 LOC100420647 DDX43P3 SEMA3C GC07P080753
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEMA3C on UCSC Golden Path with GeneCards custom track

Genomic Location for SEMA3C Gene

Chromosome:
7
Start:
80,742,538 bp from pter
End:
80,922,359 bp from pter
Size:
179,822 bases
Orientation:
Minus strand

Genomic View for SEMA3C Gene

Genes around SEMA3C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEMA3C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEMA3C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEMA3C Gene

Proteins for SEMA3C Gene

  • Protein details for SEMA3C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99985-SEM3C_HUMAN
    Recommended name:
    Semaphorin-3C
    Protein Accession:
    Q99985
    Secondary Accessions:
    • B4DRL8

    Protein attributes for SEMA3C Gene

    Size:
    751 amino acids
    Molecular mass:
    85207 Da
    Quaternary structure:
    • Interacts with PLXND1.

    Alternative splice isoforms for SEMA3C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEMA3C Gene

Post-translational modifications for SEMA3C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SEMA3C Gene

No data available for DME Specific Peptides for SEMA3C Gene

Domains & Families for SEMA3C Gene

Gene Families for SEMA3C Gene

Suggested Antigen Peptide Sequences for SEMA3C Gene

Graphical View of Domain Structure for InterPro Entry

Q99985

UniProtKB/Swiss-Prot:

SEM3C_HUMAN :
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Belongs to the semaphorin family.
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 SEMA3C: view

Function for SEMA3C Gene

Molecular function for SEMA3C Gene

GENATLAS Biochemistry:
semaphorin 3C,secreted in the developing nervous system,repellent of the nerve growth cone guidance
UniProtKB/Swiss-Prot Function:
Binds to plexin family members and plays an important role in the regulation of developmental processes. Required for normal cardiovascular development during embryogenesis. Functions as attractant for growing axons, and thereby plays an important role in axon growth and axon guidance (By similarity).

LifeMap Function Summary for SEMA3C Gene

During embryonic development, SEMA3C as signaling molecule is secreted from the following cells

Gene Ontology (GO) - Molecular Function for SEMA3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030215 semaphorin receptor binding IBA --
GO:0038191 neuropilin binding IBA --
GO:0045499 chemorepellent activity IBA --
genes like me logo Genes that share ontologies with SEMA3C: view
genes like me logo Genes that share phenotypes with SEMA3C: view

Human Phenotype Ontology for SEMA3C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SEMA3C Gene

MGI Knock Outs for SEMA3C:

Animal Model Products

  • Taconic Biosciences Mouse Models for SEMA3C

miRNA for SEMA3C Gene

miRTarBase miRNAs that target SEMA3C

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SEMA3C Gene

Localization for SEMA3C Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEMA3C Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEMA3C gene
Compartment Confidence
extracellular 5
golgi apparatus 3
plasma membrane 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SEMA3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with SEMA3C: view

Pathways & Interactions for SEMA3C Gene

SuperPathways for SEMA3C Gene

SuperPathway Contained pathways
1 Axon guidance
genes like me logo Genes that share pathways with SEMA3C: view

Pathways by source for SEMA3C Gene

1 KEGG pathway for SEMA3C Gene

SIGNOR curated interactions for SEMA3C Gene

Activates:

Gene Ontology (GO) - Biological Process for SEMA3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001755 neural crest cell migration IBA --
GO:0001756 somitogenesis IEA --
GO:0001974 blood vessel remodeling IEA --
GO:0003151 outflow tract morphogenesis IEA --
GO:0003215 cardiac right ventricle morphogenesis IEA --
genes like me logo Genes that share ontologies with SEMA3C: view

Drugs & Compounds for SEMA3C Gene

(2) Drugs for SEMA3C Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1080
genes like me logo Genes that share compounds with SEMA3C: view

Transcripts for SEMA3C Gene

Unigene Clusters for SEMA3C Gene

Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEMA3C Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1: - - -
SP2: -
SP3: -
SP4:

Relevant External Links for SEMA3C Gene

GeneLoc Exon Structure for
SEMA3C
ECgene alternative splicing isoforms for
SEMA3C

Expression for SEMA3C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEMA3C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SEMA3C Gene

This gene is overexpressed in Amniocyte (40.8), Lung (8.1), Liver, secretome (8.0), and Pancreas (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SEMA3C Gene



NURSA nuclear receptor signaling pathways regulating expression of SEMA3C Gene:

SEMA3C

SOURCE GeneReport for Unigene cluster for SEMA3C Gene:

Hs.269109

mRNA Expression by UniProt/SwissProt for SEMA3C Gene:

Q99985-SEM3C_HUMAN
Tissue specificity: Expressed intensely in the heart, skeletal muscle, colon, small intestine, ovary, testis, and prostate. Faint expression ubiquitously among other organs, including brain.
genes like me logo Genes that share expression patterns with SEMA3C: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for SEMA3C Gene

Orthologs for SEMA3C Gene

This gene was present in the common ancestor of animals.

Orthologs for SEMA3C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEMA3C 34 35
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia SEMA3C 34 35
  • 92.37 (n)
dog
(Canis familiaris)
Mammalia SEMA3C 34 35
  • 92.36 (n)
oppossum
(Monodelphis domestica)
Mammalia SEMA3C 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEMA3C 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sema3c 34
  • 88.46 (n)
mouse
(Mus musculus)
Mammalia Sema3c 34 16 35
  • 88.15 (n)
chicken
(Gallus gallus)
Aves SEMA3C 34 35
  • 81.45 (n)
lizard
(Anolis carolinensis)
Reptilia SEMA3C 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sema3c 34
  • 76.43 (n)
Str.7048 34
zebrafish
(Danio rerio)
Actinopterygii sema3c 34 35
  • 67.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sema-2a 36
  • 31 (a)
Species where no ortholog for SEMA3C was found in the sources mined by GeneCards:
  • 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)
  • 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 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 SEMA3C Gene

ENSEMBL:
Gene Tree for SEMA3C (if available)
TreeFam:
Gene Tree for SEMA3C (if available)

Paralogs for SEMA3C Gene

Variants for SEMA3C Gene

Sequence variations from dbSNP and Humsavar for SEMA3C Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs7779029 drug-response 80,902,796(+) GCCCA(C/T)GGGTA intron-variant
rs1002372 -- 80,887,848(-) TATTT(A/T)AAAAG intron-variant
rs10085651 -- 80,763,055(+) ACAAA(C/T)GCTGC intron-variant
rs10085732 -- 80,765,133(+) TGAGA(G/T)TAATA intron-variant
rs1016840 -- 80,844,730(+) GAAAA(C/T)TAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SEMA3C Gene

Variant ID Type Subtype PubMed ID
nsv478968 CNV novel sequence insertion 20440878
nsv477389 CNV novel sequence insertion 20440878
nsv474274 CNV novel sequence insertion 20440878
nsv1128346 CNV deletion 24896259
nsv1034690 CNV gain 25217958
nsv1028776 CNV loss 25217958
esv3931 CNV loss 18987735
esv3446152 CNV insertion 20981092
esv3344655 CNV insertion 20981092
esv3340736 CNV insertion 20981092
esv3309942 CNV mobile element insertion 20981092
esv3305918 CNV mobile element insertion 20981092
esv2673014 CNV deletion 23128226
esv2434401 CNV deletion 19546169

Variation tolerance for SEMA3C Gene

Residual Variation Intolerance Score: 7.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.14; 69.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEMA3C Gene

Human Gene Mutation Database (HGMD)
SEMA3C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEMA3C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEMA3C Gene

Disorders for SEMA3C Gene

MalaCards: The human disease database

(3) MalaCards diseases for SEMA3C Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
hirschsprung disease 1
  • hirschsprung's disease
schizophreniform disorder
  • schizophreniform disorders
hemorrhoid
  • hemorrhoidal disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SEMA3C

Genetic Association Database (GAD)
SEMA3C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEMA3C
genes like me logo Genes that share disorders with SEMA3C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEMA3C Gene

Publications for SEMA3C Gene

  1. Identification of semaphorin E as a non-MDR drug resistance gene of human cancers. (PMID: 9405678) Yamada T. … Hirohashi S. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 22 64
  2. Identification of human semaphorin E gene expression in rheumatoid synovial cells by mRNA differential display. (PMID: 9168980) Mangasser-Stephan K. … Hanselmann R.G. (Biochem. Biophys. Res. Commun. 1997) 2 3 22 64
  3. The cleavage of semaphorin 3C induced by ADAMTS1 promotes cell migration. (PMID: 19915008) Esselens C. … Arribas J. (J. Biol. Chem. 2010) 3 22 64
  4. GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. (PMID: 19666519) Kodo K. … Yamagishi H. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 22 64
  5. Genome-wide association meta-analysis for total serum bilirubin levels. (PMID: 19414484) Johnson A.D. … Witteman J.C. (Hum. Mol. Genet. 2009) 3 46 64

Products for SEMA3C Gene

Sources for SEMA3C Gene

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