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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
38
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
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASPHYXIA NEONATORUM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
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
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 34573389 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASCAT_DG 29325848, 30610198, 30818988
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Body Weight Body weight Pubtator 34573389 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma GWASCAT_DG 28604730
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 32887275 Associate
★☆☆☆☆
Found in Text Mining only
Chronic kidney disease stage 5 Kidney Disease BEFREE 24871321
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 39596507 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 37886648 Associate
★☆☆☆☆
Found in Text Mining only
Dyslexia Dyslexia Pubtator 33960276 Associate
★☆☆☆☆
Found in Text Mining only
Hepatitis C Chronic Hepatitis c Pubtator 30592759 Stimulate
★☆☆☆☆
Found in Text Mining only