ENSG00000075223


Homo sapiens

Features
Gene ID: ENSG00000075223
  
Biological name :SEMA3C
  
Synonyms : Q99985 / SEMA3C / semaphorin 3C
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q21.11
Gene start: 80742538
Gene end: 80922359
  
Corresponding Affymetrix probe sets: 203788_s_at (Human Genome U133 Plus 2.0 Array)   203789_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000399891
Ensembl peptide - ENSP00000411193
Ensembl peptide - ENSP00000265361
Ensembl peptide - ENSP00000393825
Ensembl peptide - ENSP00000395398
NCBI entrez gene - 10512     See in Manteia.
OMIM - 602645
RefSeq - NM_006379
RefSeq - XM_005250113
RefSeq Peptide - NP_006370
swissprot - F2Z2Y0
swissprot - Q99985
swissprot - F8WEP9
Ensembl - ENSG00000075223
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sema3cENSDARG00000034300Danio rerio
 SEMA3CENSGALG00000040444Gallus gallus
 Q62181ENSMUSG00000028780Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q13275 / SEMA3F / semaphorin 3FENSG0000000161753
O95025 / SEMA3D / semaphorin 3DENSG0000015399345
Q14563 / SEMA3A / semaphorin 3AENSG0000007521345
O15041 / SEMA3E / semaphorin 3EENSG0000017038144
Q13214 / SEMA3B / semaphorin 3BENSG0000001217144
Q9NS98 / SEMA3G / semaphorin 3GENSG0000001031942
Q92854 / SEMA4D / semaphorin 4DENSG0000018776429
Q9C0C4 / SEMA4C / semaphorin 4CENSG0000016875827
Q9NTN9 / SEMA4G / semaphorin 4GENSG0000009553927
SEMA4B / semaphorin 4BENSG0000018503327
Q9H3S1 / SEMA4A / semaphorin 4AENSG0000019618926
O95754 / SEMA4F / ssemaphorin 4FENSG0000013562225


Protein motifs (from Interpro)
Interpro ID Name
 IPR001627  Sema domain
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013098  Immunoglobulin I-set
 IPR013783  Immunoglobulin-like fold
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR016201  PSI domain
 IPR027231  Semaphorin
 IPR036179  Immunoglobulin-like domain superfamily
 IPR036352  Sema domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001755 neural crest cell migration IEA
 biological_processGO:0001756 somitogenesis IEA
 biological_processGO:0001974 blood vessel remodeling IEA
 biological_processGO:0003148 outflow tract septum morphogenesis ISS
 biological_processGO:0003151 outflow tract morphogenesis IEA
 biological_processGO:0003215 cardiac right ventricle morphogenesis IEA
 biological_processGO:0003350 pulmonary myocardium development IEA
 biological_processGO:0006955 immune response TAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007411 axon guidance ISS
 biological_processGO:0007507 heart development IEA
 biological_processGO:0009791 post-embryonic development IEA
 biological_processGO:0021915 neural tube development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0042493 response to drug TAS
 biological_processGO:0050919 negative chemotaxis IBA
 biological_processGO:0060174 limb bud formation IEA
 biological_processGO:0060666 dichotomous subdivision of terminal units involved in salivary gland branching IEA
 biological_processGO:0071526 semaphorin-plexin signaling pathway IEA
 biological_processGO:0140074 cardiac endothelial to mesenchymal transition IEA
 biological_processGO:1905312 positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis ISS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IBA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030215 semaphorin receptor binding IEA
 molecular_functionGO:0038191 neuropilin binding IBA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0001181 Adducted thumbs 
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 HP:0001249 Mental retardation 
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 HP:0001531 Failure to thrive in infancy 
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 HP:0001824 Weight loss 
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 HP:0002014 Diarrhea 
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 HP:0002017 Nausea and vomiting 
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 HP:0002019 Constipation 
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 HP:0002027 Abdominal pain 
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 HP:0002251 Congenital megacolon "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0005214 Intestinal obstruction 
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 HP:0100031 Neoplasm of the thyroid gland "The presence of a `neoplasm` (MPATH:218) of the `thyroid gland` (FMA:9603)." [HPO:probinson]
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 HP:0100806 Sepsis 
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 HP:0200008 Multiple intestinal polyps 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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