Gene Gene information from NCBI Gene database.
Entrez ID 10512
Gene name Semaphorin 3C
Gene symbol SEMA3C
Synonyms (NCBI Gene)
SEMAESemE
Chromosome 7
Chromosome location 7q21.11
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. Homodimeriz
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs7779029 T>C Drug-response Intron variant
miRNA miRNA information provided by mirtarbase database.
768
miRTarBase ID miRNA Experiments Reference
MIRT016050 hsa-miR-374b-5p Sequencing 20371350
MIRT019941 hsa-miR-375 Microarray 20215506
MIRT027705 hsa-miR-98-5p Microarray 19088304
MIRT1334638 hsa-miR-1178 CLIP-seq
MIRT1334639 hsa-miR-1202 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0001755 Process Neural crest cell migration IBA
GO:0001755 Process Neural crest cell migration IEA
GO:0001756 Process Somitogenesis IEA
GO:0001974 Process Blood vessel remodeling IEA
GO:0003148 Process Outflow tract septum morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602645 10725 ENSG00000075223
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99985
Protein name Semaphorin-3C (Semaphorin-E) (Sema E)
Protein 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 importa
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 56 493 Sema domain Family
PF07679 I-set 579 661 Immunoglobulin I-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed intensely in the heart, skeletal muscle, colon, small intestine, ovary, testis, and prostate. Faint expression ubiquitously among other organs, including brain.
Sequence
Sequence length 751
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Axon guidance  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28315433
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 26993346 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 23879678 Associate
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 35654816 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12174914, 25910410, 26977026, 29113226
★☆☆☆☆
Found in Text Mining only
Breast Diseases Breast Diseases BEFREE 25910410
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19915008, 37443749 Associate
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt lymphoma Pubtator 29033373 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 12598331, 26032848 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 31926587, 34691034 Associate
★☆☆☆☆
Found in Text Mining only