Gene Gene information from NCBI Gene database.
Entrez ID 10500
Gene name Semaphorin 6C
Gene symbol SEMA6C
Synonyms (NCBI Gene)
SEMAYSema-Ym-SemaYm-SemaY2
Chromosome 1
Chromosome location 1q21.3
Summary This gene encodes a member of the semaphorin family. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. [provided by
miRNA miRNA information provided by mirtarbase database.
34
miRTarBase ID miRNA Experiments Reference
MIRT1335541 hsa-miR-1245b-5p CLIP-seq
MIRT1335542 hsa-miR-3142 CLIP-seq
MIRT1335543 hsa-miR-3653 CLIP-seq
MIRT1335544 hsa-miR-3658 CLIP-seq
MIRT1335545 hsa-miR-885-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0001755 Process Neural crest cell migration IBA
GO:0005737 Component Cytoplasm IMP 12110693
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0007399 Process Nervous system development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609294 10740 ENSG00000143434
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H3T2
Protein name Semaphorin-6C (Semaphorin-Y) (Sema Y)
Protein function Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 67 480 Sema domain Family
Tissue specificity TISSUE SPECIFICITY: In adult tissues, expressed only in skeletal muscle. {ECO:0000269|PubMed:12110693}.
Sequence
MPRAPHFMPLLLLLLLLSLPHTQAAFPQDPLPLLISDLQGTSPLSWFRGLEDDAVAAELG
LDFQRFLTLNRTLLVAARDHVFSFDLQAEEEGEGLVPNKYLTWRSQDVENCAVRGKLTDE
CYNYIRVLVPWDSQTLLACGTNSFSPVCRSYGITSLQQEGEELSGQARCPFDATQSNVAI
FAEGSLYSATAADFQASDAVVYRSLGPQPPLRSAKYDSKWLREPHFVQALEHGDHVYFFF
REVSVEDARLGRVQFSRVARVCKRDMGGSPRALDRHWTSFLKLRLNCSVPGDSTFYFDVL
QALTGPVNLHGRSALFGVFTTQTNSIPGSAVCAFYLDEIERGFEGKFKEQRSLDGAWTPV
SEDRVPSPRPGSCAGVGGAALFSSSRDLPDDVLTFIKAHPLLDPAVPPVTHQPLLTLTSR
ALLTQVAVDGMAGPHSNITVMFLGSNDGTVLKVLTPGGRSGGPEPILLEEIDAYSPARCS

GKRTAQTARRIIGLELDTEGHRLFVAFSGCIVYLPLSRCARHGACQRSCLASQDPYCGWH
SSRGCVDIRGSGGTDVDQAGNQESMEHGDCQDGATGSQSGPGDSAYGVRRDLPPASASRS
VPIPLLLASVAAAFALGASVSGLLVSCACRRAHRRRGKDIETPGLPRPLSLRSLARLHGG
GPEPPPPSKDGDAVQTPQLYTTFLPPPEGVPPPELACLPTPESTPELPVKHLRAAGDPWE
WNQNRNNAKEGPGRSRGGHAAGGPAPRVLVRPPPPGCPGQAVEVTTLEELLRYLHGPQPP
RKGAEPPAPLTSRALPPEPAPALLGGPSPRPHECASPLRLDVPPEGRCASAPARPALSAP
APRLGVGGGRRLPFSGHRAPPALLTRVPSGGPSRYSGGPGKHLLYLGRPEGYRGRALKRV
DVEKPQLSLKPPLVGPSSRQAVPNGGRFNF
Sequence length 930
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.).
2
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
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance 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
Ovarian Failure, Premature Ovarian Failure BEFREE 28881413, 30256425
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 35269749 Inhibit
★☆☆☆☆
Found in Text Mining only
Premature Menopause Premature Menopause BEFREE 28881413, 30256425
★☆☆☆☆
Found in Text Mining only