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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
  • M-Sema F 2 3
  • SEMAI 3 4
  • Semaphorin-4C 3
  • M-SEMA-F 3
  • KIAA1739 4
  • SEMACL1 3
  • SEMAF 3

External Ids for SEMA4C Gene

Previous HGNC Symbols for SEMA4C Gene

  • SEMAI

Previous GeneCards Identifiers for SEMA4C Gene

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

Summaries for SEMA4C Gene

GeneCards Summary for SEMA4C Gene

SEMA4C (Semaphorin 4C) is a Protein Coding gene. Diseases associated with SEMA4C include Retinitis Pigmentosa 33. Among its related pathways are Axon guidance. GO annotations related to this gene include receptor activity. An important paralog of this gene is SEMA4G.

UniProtKB/Swiss-Prot 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

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEMA4C Gene

Genomics for SEMA4C Gene

Regulatory Elements for SEMA4C Gene

Enhancers for SEMA4C 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
GH02G096800 1.4 Ensembl ENCODE dbSUPER 19.6 +69.9 69901 1.4 ELF3 HDGF ZSCAN4 ARID4B SIN3A YBX1 ZNF2 ZNF48 ZSCAN9 RAD21 LMAN2L SEMA4C CNNM4 ANKRD36B MIR3127 PIR40637
GH02G096905 1.2 Ensembl ENCODE dbSUPER 13.1 -36.3 -36277 2.5 MAZ SP3 KLF1 NFIB RNF2 MNT ZIC2 NR2F2 ZFHX2 GLIS2 FAM178B SEMA4C ANKRD39 ANKRD23 SNRNP200 LOC101927053
GH02G096856 1.4 ENCODE dbSUPER 10.5 +12.4 12429 3.7 HDGF HNRNPUL1 PKNOX1 CREB3L1 AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ACTR1B SEMA4C SNRNP200 LMAN2L ANKRD39
GH02G096866 1.3 ENCODE dbSUPER 10.8 +2.1 2058 5.3 HDGF PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZBTB7B YY1 SEMA4C FAM178B LMAN2L SNRNP200 GPAT2P2 LINC01125 ANKRD36B ANKRD39
GH02G096815 1.1 ENCODE 10.3 +54.5 54455 2.7 PKNOX1 FOXA2 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS STARD7-AS1 CIAO1 SEMA4C CNNM4 KANSL3 CNNM3 GC02P096839
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEMA4C on UCSC Golden Path with GeneCards custom track

Promoters for SEMA4C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000120335 1643 2601 HDGF MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZBTB7B SLC30A9 ZNF143

Genomic Location for SEMA4C Gene

Chromosome:
2
Start:
96,859,716 bp from pter
End:
96,870,943 bp from pter
Size:
11,228 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).

neXtProt entry for SEMA4C Gene

Post-translational modifications for SEMA4C Gene

  • Ubiquitination at isoforms=744
  • Glycosylation at isoforms=106, Asn121, isoforms=310, Asn419, isoforms=522, and Asn564
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEMA4C Gene

Domains & Families for SEMA4C Gene

Suggested Antigen Peptide Sequences for SEMA4C Gene

GenScript: Design optimal peptide antigens:

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.

Gene Ontology (GO) - Molecular Function for SEMA4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
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

Clone Products

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 cell membrane, postsynaptic density; 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
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SEMA4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005886 plasma membrane IEA --
GO:0014069 postsynaptic density ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SEMA4C: view

Pathways & Interactions for SEMA4C Gene

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:0001843 neural tube closure ISS --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0021535 cell migration in hindbrain ISS,IEA --
GO:0021549 cerebellum development IEA --
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

Unigene Clusters for SEMA4C Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
SEMA4C

Expression for SEMA4C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SEMA4C Gene



NURSA nuclear receptor signaling pathways regulating expression of SEMA4C Gene:

SEMA4C

SOURCE GeneReport for Unigene cluster for SEMA4C Gene:

Hs.516220

Evidence on tissue expression from TISSUES for SEMA4C Gene

  • Nervous system(4.5)
  • Muscle(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with SEMA4C: view

Primer Products

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 34 35
  • 96.36 (n)
dog
(Canis familiaris)
Mammalia SEMA4C 34 35
  • 88.4 (n)
cow
(Bos Taurus)
Mammalia SEMA4C 34 35
  • 87.43 (n)
mouse
(Mus musculus)
Mammalia Sema4c 34 16 35
  • 85.35 (n)
oppossum
(Monodelphis domestica)
Mammalia SEMA4C 35
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sema4c 34
  • 84.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEMA4C 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 34 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SEMA4C 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sema4c 34
  • 62.89 (n)
zebrafish
(Danio rerio)
Actinopterygii sc:d411 34
  • 60.49 (n)
SEMA4C 35
  • 54 (a)
OneToOne
sema4e 34
Species where no ortholog for SEMA4C 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)
  • 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 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 SEMA4C Gene

ENSEMBL:
Gene Tree for SEMA4C (if available)
TreeFam:
Gene Tree for SEMA4C (if available)

Paralogs for SEMA4C Gene

Variants for SEMA4C Gene

Sequence variations from dbSNP and Humsavar for SEMA4C Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000187051 -- 96,860,101(+) AAGGG(A/G)CACAG utr-variant-3-prime
rs1000467649 -- 96,861,346(+) GGCAG(A/G)TCCCG reference, synonymous-codon
rs1000633827 -- 96,868,084(+) CTTGG(C/G)CTCTG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000674321 -- 96,867,259(+) AGGTC(C/T)CCAGA intron-variant
rs1000676799 -- 96,867,050(+) GTCTT(C/G)CTGCC intron-variant

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)

Relevant External Links for SEMA4C Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEMA4C Gene

Disorders for SEMA4C Gene

MalaCards: The human disease database

(1) MalaCards diseases for SEMA4C Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 33
  • rp33
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SEMA4C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEMA4C
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. (Eur. J. Cell Biol. 2007) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  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 Res. 2000) 3 4 64
  5. Identification of a member of mouse semaphorin family. (PMID: 7656991) Inagaki S. … Iwahashi Y. (FEBS Lett. 1995) 2 3 64

Products for SEMA4C Gene

Sources for SEMA4C Gene

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