Aliases for SEMA4C Gene

Aliases for SEMA4C Gene

  • Semaphorin 4C 2 3 5
  • Sema Domain, Immunoglobulin Domain (Ig), Transmembrane Domain (TM) And Short Cytoplasmic Domain, (Semaphorin) 4C 2 3
  • Semaphorin-4C 3 4
  • M-Sema F 2 3
  • SEMAI 3 4
  • M-SEMA-F 3
  • KIAA1739 4
  • SEMACL1 3
  • Semacl1 2
  • SEMA4C 5
  • SEMAF 3
  • Semaf 2

External Ids for SEMA4C Gene

Previous HGNC Symbols for SEMA4C Gene

  • SEMAI

Previous GeneCards Identifiers for SEMA4C Gene

  • GC02M095302
  • GC02M095979
  • GC02M096993
  • GC02M097010
  • GC02M096947
  • GC02M096889
  • GC02M097525
  • GC02M091485

Summaries for SEMA4C Gene

GeneCards Summary for SEMA4C Gene

SEMA4C (Semaphorin 4C) is a Protein Coding gene. Diseases associated with SEMA4C include Cri-Du-Chat Syndrome and Kallmann Syndrome. Among its related pathways are Axon guidance. An important paralog of this gene is SEMA4G.

UniProtKB/Swiss-Prot Summary for SEMA4C Gene

  • Cell surface receptor for PLXNB2 that plays an important role in cell-cell signaling. PLXNB2 binding promotes downstream activation of RHOA and phosphorylation of ERBB2 at 'Tyr-1248'. Required for normal brain development, axon guidance and cell migration (By similarity). Probable signaling receptor which may play a role in myogenic differentiation through activation of the stress-activated MAPK cascade.

Gene Wiki entry for SEMA4C Gene

Additional gene information for SEMA4C Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEMA4C Gene

Genomics for SEMA4C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEMA4C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEMA4C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEMA4C

Top Transcription factor binding sites by QIAGEN in the SEMA4C gene promoter:
  • AhR
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • STAT5B

Genomic Locations for SEMA4C Gene

Genomic Locations for SEMA4C Gene
chr2:96,859,718-96,870,943
(GRCh38/hg38)
Size:
11,226 bases
Orientation:
Minus strand
chr2:97,525,453-97,536,494
(GRCh37/hg19)
Size:
11,042 bases
Orientation:
Minus strand

Genomic View for SEMA4C Gene

Genes around SEMA4C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEMA4C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEMA4C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEMA4C Gene

Proteins for SEMA4C Gene

  • Protein details for SEMA4C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0C4-SEM4C_HUMAN
    Recommended name:
    Semaphorin-4C
    Protein Accession:
    Q9C0C4
    Secondary Accessions:
    • Q32MJ3
    • Q7Z5X0

    Protein attributes for SEMA4C Gene

    Size:
    833 amino acids
    Molecular mass:
    92623 Da
    Quaternary structure:
    • Interacts (via the PDZ-binding motif) with GIPC (via the PDZ domain) (By similarity). Interacts with NCDN (By similarity). Interacts (via the PDZ-binding motif) with DLG4. Interacts with PLXNB2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for SEMA4C Gene

neXtProt entry for SEMA4C Gene

Post-translational modifications for SEMA4C Gene

  • Glycosylation at Asn106, Asn121, Asn310, Asn419, Asn522, and Asn564
  • Ubiquitination at Lys744
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SEM4C_HUMAN (1733)

No data available for DME Specific Peptides for SEMA4C Gene

Domains & Families for SEMA4C Gene

Gene Families for SEMA4C Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SEMA4C Gene

InterPro:
Blocks:
  • Immunoglobulin subtype
  • Semaphorin/CD100 antigen
ProtoNet:

Suggested Antigen Peptide Sequences for SEMA4C Gene

GenScript: Design optimal peptide antigens:
  • SEMA4C protein (Q6P5A5_HUMAN)
  • Semaphorin-4C (SEM4C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9C0C4

UniProtKB/Swiss-Prot:

SEM4C_HUMAN :
  • Belongs to the semaphorin family.
Family:
  • Belongs to the semaphorin family.
genes like me logo Genes that share domains with SEMA4C: view

Function for SEMA4C Gene

Molecular function for SEMA4C Gene

UniProtKB/Swiss-Prot Function:
Cell surface receptor for PLXNB2 that plays an important role in cell-cell signaling. PLXNB2 binding promotes downstream activation of RHOA and phosphorylation of ERBB2 at 'Tyr-1248'. Required for normal brain development, axon guidance and cell migration (By similarity). Probable signaling receptor which may play a role in myogenic differentiation through activation of the stress-activated MAPK cascade.

Phenotypes From GWAS Catalog for SEMA4C Gene

Gene Ontology (GO) - Molecular Function for SEMA4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 25416956
GO:0030215 semaphorin receptor binding IEA,IBA 21873635
GO:0045499 chemorepellent activity IBA 21873635
genes like me logo Genes that share ontologies with SEMA4C: view
genes like me logo Genes that share phenotypes with SEMA4C: view

Animal Models for SEMA4C Gene

MGI Knock Outs for SEMA4C:

Animal Model Products

  • Taconic Biosciences Mouse Models for SEMA4C

CRISPR Products

miRNA for SEMA4C Gene

miRTarBase miRNAs that target SEMA4C

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEMA4C

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEMA4C Gene

Localization for SEMA4C Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEMA4C Gene

Cell junction, synapse, postsynaptic density membrane. Single-pass type I membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Single-pass type I membrane protein.

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 SEMA4C gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SEMA4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA 21873635
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0014069 postsynaptic density IEA,ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SEMA4C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SEMA4C Gene

Pathways & Interactions for SEMA4C Gene

PathCards logo

SuperPathways for SEMA4C Gene

SuperPathway Contained pathways
1 Axon guidance
genes like me logo Genes that share pathways with SEMA4C: view

Pathways by source for SEMA4C Gene

1 KEGG pathway for SEMA4C Gene

Gene Ontology (GO) - Biological Process for SEMA4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001755 neural crest cell migration IBA 21873635
GO:0001843 neural tube closure IEA,ISS --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007411 axon guidance IBA 21873635
genes like me logo Genes that share ontologies with SEMA4C: view

No data available for SIGNOR curated interactions for SEMA4C Gene

Drugs & Compounds for SEMA4C Gene

No Compound Related Data Available

Transcripts for SEMA4C Gene

mRNA/cDNA for SEMA4C Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEMA4C

Alternative Splicing Database (ASD) splice patterns (SP) for SEMA4C Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c ^ 18
SP1: - - - -
SP2: - -
SP3: -
SP4: - - -
SP5: -
SP6: -

Relevant External Links for SEMA4C Gene

GeneLoc Exon Structure for
SEMA4C

Expression for SEMA4C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEMA4C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SEMA4C Gene

This gene is overexpressed in Fetal Brain (23.6), Heart (17.9), Spleen (7.3), and Placenta (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEMA4C Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEMA4C

SOURCE GeneReport for Unigene cluster for SEMA4C Gene:

Hs.516220

Evidence on tissue expression from TISSUES for SEMA4C Gene

  • Nervous system(4.8)
  • Muscle(4.5)
  • Liver(4.4)
  • Eye(2.9)
  • Heart(2.8)
  • Skin(2.6)
  • Spleen(2.6)
  • Lymph node(2.5)
  • Blood(2.5)
  • Kidney(2.4)
  • Lung(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with SEMA4C: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEMA4C Gene

Orthologs for SEMA4C Gene

This gene was present in the common ancestor of chordates.

Orthologs for SEMA4C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEMA4C 30 31
  • 96.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SEMA4C 30 31
  • 88.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SEMA4C 30 31
  • 87.43 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sema4c 30 17 31
  • 85.35 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SEMA4C 31
  • 85 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sema4c 30
  • 84.83 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SEMA4C 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 34 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia SEMA4C 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sema4c 30
  • 62.89 (n)
Zebrafish
(Danio rerio)
Actinopterygii sc:d411 30
  • 60.49 (n)
SEMA4C 31
  • 54 (a)
OneToOne
sema4e 30
Species where no ortholog for SEMA4C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (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 SEMA4C Gene

ENSEMBL:
Gene Tree for SEMA4C (if available)
TreeFam:
Gene Tree for SEMA4C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEMA4C: view image

Paralogs for SEMA4C Gene

(18) SIMAP similar genes for SEMA4C Gene using alignment to 5 proteins:

  • SEM4C_HUMAN
  • C9J4M7_HUMAN
  • C9JV89_HUMAN
  • Q53RE7_HUMAN
  • Q6P5A5_HUMAN
genes like me logo Genes that share paralogs with SEMA4C: view

Variants for SEMA4C Gene

Additional dbSNP identifiers (rs#s) for SEMA4C Gene

Structural Variations from Database of Genomic Variants (DGV) for SEMA4C Gene

Variant ID Type Subtype PubMed ID
dgv607e201 CNV deletion 23290073
esv3425717 CNV duplication 20981092
esv5003 OTHER complex 18987735
nsv1135873 CNV deletion 24896259
nsv526313 CNV loss 19592680

Variation tolerance for SEMA4C Gene

Residual Variation Intolerance Score: 46.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEMA4C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEMA4C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEMA4C Gene

Disorders for SEMA4C Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEMA4C Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cri-du-chat syndrome
  • cat cry syndrome
kallmann syndrome
  • hypogonadotropic hypogonadism and anosmia
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SEMA4C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEMA4C Gene

Publications for SEMA4C Gene

  1. Sema4C participates in myogenic differentiation in vivo and in vitro through the p38 MAPK pathway. (PMID: 17498836) Wu H … Fan M (European journal of cell biology 2007) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4
  5. Identification of a member of mouse semaphorin family. (PMID: 7656991) Inagaki S … Iwahashi Y (FEBS letters 1995) 2 3

Products for SEMA4C Gene

  • Signalway Proteins for SEMA4C

Sources for SEMA4C Gene