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    SEMA3C semaphorin 3C [ Homo sapiens (human) ]

    Gene ID: 10512, updated on 25-Jan-2022

    Summary

    Official Symbol
    SEMA3Cprovided by HGNC
    Official Full Name
    semaphorin 3Cprovided by HGNC
    Primary source
    HGNC:HGNC:10725
    See related
    Ensembl:ENSG00000075223 MIM:602645; AllianceGenome:HGNC:10725
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SemE; SEMAE
    Summary
    This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]
    Expression
    Broad expression in prostate (RPKM 41.1), urinary bladder (RPKM 40.3) and 20 other tissues See more
    Orthologs
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    Genomic context

    See SEMA3C in Genome Data Viewer
    Location:
    7q21.11
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (80742538..80922389, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (80371854..80551705, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986812 Neighboring gene G protein subunit alpha transducin 3 Neighboring gene CD36 molecule Neighboring gene HNF1 motif-containing MPRA enhancer 195 Neighboring gene voltage dependent anion channel 3 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chemorepellent activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables semaphorin receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in blood vessel remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac endothelial to mesenchymal transition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac right ventricle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dichotomous subdivision of terminal units involved in salivary gland branching IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in limb bud formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative chemotaxis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of axon extension involved in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in neural crest cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in neural tube development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outflow tract septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pulmonary myocardium development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in semaphorin-plexin signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    semaphorin-3C
    Names
    sema E
    sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
    semaphorin E

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_054744.1 RefSeqGene

      Range
      8329..184841
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001350120.2NP_001337049.1  semaphorin-3C isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA853650, AB000220, AC004972, AK304294, BC030690, BM473251, CN334967, CN334969, DC415474
      Conserved Domains (3) summary
      cd05871
      Location:593682
      Ig_Semaphorin_classIII; Immunoglobulin (Ig)-like domain of class III semaphorin
      cd11251
      Location:63532
      Sema_3C; The Sema domain, a protein interacting module, of semaphorin 3C (Sema3C)
      smart00423
      Location:531568
      PSI; domain found in Plexins, Semaphorins and Integrins
    2. NM_001350121.2NP_001337050.1  semaphorin-3C isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC004880, AC073850, AC093683
      Conserved Domains (3) summary
      cd05871
      Location:517606
      Ig_Semaphorin_classIII; Immunoglobulin (Ig)-like domain of class III semaphorin
      cd11251
      Location:1456
      Sema_3C; The Sema domain, a protein interacting module, of semaphorin 3C (Sema3C)
      smart00423
      Location:455492
      PSI; domain found in Plexins, Semaphorins and Integrins
    3. NM_006379.5NP_006370.1  semaphorin-3C isoform 2 precursor

      See identical proteins and their annotated locations for NP_006370.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AA853650, AB000220, AK304294, BC030690, BM473251, CN334967, CN334969
      Consensus CDS
      CCDS5596.1
      UniProtKB/Swiss-Prot
      Q99985
      Related
      ENSP00000265361.3, ENST00000265361.8
      Conserved Domains (3) summary
      cd05871
      Location:575664
      Ig_Semaphorin_classIII; Immunoglobulin (Ig)-like domain of class III semaphorin
      cd11251
      Location:45514
      Sema_3C; The Sema domain, a protein interacting module, of semaphorin 3C (Sema3C)
      smart00423
      Location:513550
      PSI; domain found in Plexins, Semaphorins and Integrins

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      80742538..80922389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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