Gene Gene information from NCBI Gene database.
Entrez ID 80031
Gene name Semaphorin 6D
Gene symbol SEMA6D
Synonyms (NCBI Gene)
-
Chromosome 15
Chromosome location 15q21.1
Summary Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a
miRNA miRNA information provided by mirtarbase database.
247
miRTarBase ID miRNA Experiments Reference
MIRT607440 hsa-miR-8485 HITS-CLIP 23313552
MIRT607439 hsa-miR-5003-5p HITS-CLIP 23313552
MIRT607440 hsa-miR-8485 HITS-CLIP 23313552
MIRT607439 hsa-miR-5003-5p HITS-CLIP 23313552
MIRT607440 hsa-miR-8485 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0001755 Process Neural crest cell migration IBA
GO:0002291 Process T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell IDA 16715077
GO:0002291 Process T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell IEA
GO:0002291 Process T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell ISS
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609295 16770 ENSG00000137872
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NFY4
Protein name Semaphorin-6D
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 61 481 Sema domain Family
PF01437 PSI 514 569 Plexin repeat Family
Sequence
MRVFLLCAYILLLMVSQLRAVSFPEDDEPLNTVDYHYSRQYPVFRGRPSGNESQHRLDFQ
LMLKIRDTLYIAGRDQVYTVNLNEMPKTEVIPNKKLTWRSRQQDRENCAMKGKHKDECHN
FIKVFVPRNDEMVFVCGTNAFNPMCRYYRLSTLEYDGEEISGLARCPFDARQTNVALFAD
GKLYSATVADFLASDAVIYRSMGDGSALRTIKYDSKWIKEPHFLHAIEYGNYVYFFFREI
AVEHNNLGKAVYSRVARICKNDMGGSQRVLEKHWTSFLKARLNCSVPGDSFFYFDVLQSI
TDIIQINGIPTVVGVFTTQLNSIPGSAVCAFSMDDIEKVFKGRFKEQKTPDSVWTAVPED
KVPKPRPGCCAKHGLAEAYKTSIDFPDETLSFIKSHPLMDSAVPPIADEPWFTKTRVRYR
LTAISVDHSAGPYQNYTVIFVGSEAGMVLKVLAKTSPFSLNDSVLLEEIEAYNHAKCSAE
N
EEDKKVISLQLDKDHHALYVAFSSCIIRIPLSRCERYGSCKKSCIASRDPYCGWLSQGS
CGRVTPGMLAEGYEQDTEFGNTAHLGDCH
EILPTSTTPDYKIFGGPTSDMEVSSSSVTTM
ASIPEITPKVIDTWRPKLTSSRKFVVQDDPNTSDFTDPLSGIPKGVRWEVQSGESNQMVH
MNVLITCVFAAFVLGAFIAGVAVYCYRDMFVRKNRKIHKDAESAQSCTDSSGSFAKLNGL
FDSPVKEYQQNIDSPKLYSNLLTSRKELPPNGDTKSMVMDHRGQPPELAALPTPESTPVL
HQKTLQAMKSHSEKAHGHGASRKETPQFFPSSPPPHSPLSHGHIPSAIVLPNATHDYNTS
FSNSNAHKAEKKLQNIDHPLTKSSSKRDHRRSVDSRNTLNDLLKHLNDPNSNPKAIMGDI
QMAHQNLMLDPMGSMSEVPPKVPNREASLYSPPSTLPRNSPTKRVDVPTTPGVPMTSLER
QRGYHKNSSQRHSISAMPKNLNSPNGVLLSRQPSMNRGGYMPTPTGAKVDYIQGTPVSVH
LQPSLSRQSSYTSNGTLPRTGLKRTPSLKPDVPPKPSFVPQTPSVRPLNKYTY
Sequence length 1073
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   Other semaphorin interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
19
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SEMA6D-related disorder Uncertain significance; Likely benign; Benign rs201777640, rs746940650, rs370414740, rs3743279, rs1032903357, rs2511236441, rs200646071, rs138853699, rs76460641, rs146886309, rs575377637, rs142096314, rs34884840, rs145767296, rs948836409
View all (4 more)
RCV003954031
RCV003907064
RCV003912320
RCV003964451
RCV003974043
RCV003899480
RCV003909645
RCV003933947
RCV003933999
RCV003924653
RCV003944238
RCV003952073
RCV003963904
RCV003929407
RCV003934760
RCV003931930
RCV003982194
RCV003971678
RCV003976308
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32672359
Attention Deficit Disorder with Hyperactivity Associate 34573389
Body Weight Associate 34573389
Cardiovascular Diseases Associate 32887275
Colitis Ulcerative Associate 39596507
Diabetes Mellitus Type 1 Associate 37886648
Dyslexia Associate 33960276
Fibrosis Stimulate 30592759
Hepatitis C Chronic Stimulate 30592759
Language Development Disorders Associate 22266071