Gene Gene information from NCBI Gene database.
Entrez ID 9037
Gene name Semaphorin 5A
Gene symbol SEMA5A
Synonyms (NCBI Gene)
SEMAFsemF
Chromosome 5
Chromosome location 5p15.31
Summary This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been i
miRNA miRNA information provided by mirtarbase database.
590
miRTarBase ID miRNA Experiments Reference
MIRT030970 hsa-miR-21-5p Microarray 18591254
MIRT662456 hsa-miR-4714-3p HITS-CLIP 23824327
MIRT662455 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT662454 hsa-miR-6736-3p HITS-CLIP 23824327
MIRT662453 hsa-miR-660-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0001755 Process Neural crest cell migration IBA
GO:0001938 Process Positive regulation of endothelial cell proliferation ISS
GO:0002043 Process Blood vessel endothelial cell proliferation involved in sprouting angiogenesis ISS
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609297 10736 ENSG00000112902
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13591
Protein name Semaphorin-5A (Semaphorin-F) (Sema F)
Protein function Bifunctional axonal guidance cue regulated by sulfated proteoglycans; attractive effects result from interactions with heparan sulfate proteoglycans (HSPGs), while the inhibitory effects depend on interactions with chondroitin sulfate proteoglyc
PDB 8CKG , 8CKK , 8CKL , 8CKM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 60 466 Sema domain Family
PF00090 TSP_1 599 650 Thrombospondin type 1 domain Domain
PF00090 TSP_1 657 701 Thrombospondin type 1 domain Domain
PF00090 TSP_1 788 838 Thrombospondin type 1 domain Domain
PF00090 TSP_1 845 895 Thrombospondin type 1 domain Domain
PF00090 TSP_1 900 944 Thrombospondin type 1 domain Domain
Sequence
MKGTCVIAWLFSSLGLWRLAHPEAQGTTQCQRTEHPVISYKEIGPWLREFRAKNAVDFSQ
LTFDPGQKELVVGARNYLFRLQLEDLSLIQAVEWECDEATKKACYSKGKSKEECQNYIRV
LLVGGDRLFTCGTNAFTPVCTNRSLSNLTEIHDQISGMARCPYSPQHNSTALLTAGGELY
AATAMDFPGRDPAIYRSLGILPPLRTAQYNSKWLNEPNFVSSYDIGNFTYFFFRENAVEH
DCGKTVFSRAARVCKNDIGGRFLLEDTWTTFMKARLNCSRPGEVPFYYNELQSTFFLPEL
DLIYGIFTTNVNSIAASAVCVFNLSAIAQAFSGPFKYQENSRSAWLPYPNPNPHFQCGTV
DQGLYVNLTERNLQDAQKFILMHEVVQPVTTVPSFMEDNSRFSHVAVDVVQGREALVHII
YLATDYGTIKKVRVPLNQTSSSCLLEEIELFPERRREPIRSLQILH
SQSVLFVGLREHVV
KIPLKRCQFYRTRSTCIGAQDPYCGWDVVMKKCTSLEESLSMTQWEQSISACPTRNLTVD
GHFGVWSPWTPCTHTDGSAVGSCLCRTRSCDSPAPQCGGWQCEGPGMEIANCSRNGGWTP
WTSWSPCSTTCGIGFQVRQRSCSNPTPRHGGRVCVGQNREERYCNEHLLC
PPHMFWTGWG
PWERCTAQCGGGIQARRRICENGPDCAGCNVEYQSCNTNPC
PELKKTTPWTPWTPVNISD
NGGHYEQRFRYTCKARLADPNLLEVGRQRIEMRYCSSDGTSGCSTDGLSGDFLRAGRYSA
HTVNGAWSAWTSWSQCSRDCSRGIRNRKRVCNNPEPKYGGMPCLGPSLEYQECNILPCPV
DGVWSCWSPWTKCSATCGGGHYMRTRSCSNPAPAYGGDICLGLHTEEALCNTQPCPESWS
EWSDWSECEASGVQVRARQCILLFPMGSQCSGNTTESRPCVFDS
NFIPEVSVARSSSVEE
KRCGEFNMFHMIAVGLSSSILGCLLTLLVYTYCQRYQQQSHDATVIHPVSPAPLNTSITN
HINKLDKYDSVEAIKAFNKNNLILEERNKYFNPHLTGKTYSNAYFTDLNNYDEY
Sequence length 1074
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   Other semaphorin interactions
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
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
ANOPHTHALMOS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical 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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31789397
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 28626864 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35835748 Stimulate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 21706053
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 23575222, 26395558 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 23575222, 26395558, 29209394, 31509188
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 17028446, 19812673, 23575222, 26601658
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism LHGDN 17028446
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism CTD_human_DG 17028446
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 17028446, 19812673 Inhibit
★★☆☆☆
Found in Text Mining + Unknown/Other Associations