Gene Gene information from NCBI Gene database.
Entrez ID 10507
Gene name Semaphorin 4D
Gene symbol SEMA4D
Synonyms (NCBI Gene)
A8BB18C9orf164CD100COLL4GR3M-sema-GSEMAJcoll-4
Chromosome 9
Chromosome location 9q22.2
miRNA miRNA information provided by mirtarbase database.
190
miRTarBase ID miRNA Experiments Reference
MIRT004149 hsa-miR-192-5p Microarray 16822819
MIRT017224 hsa-miR-335-5p Microarray 18185580
MIRT024017 hsa-miR-1-3p Microarray 18668037
MIRT024391 hsa-miR-215-5p Microarray 19074876
MIRT004149 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
74
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 22019888
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0001755 Process Neural crest cell migration IBA
GO:0001934 Process Positive regulation of protein phosphorylation IDA 16055703
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601866 10732 ENSG00000187764
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92854
Protein name Semaphorin-4D (A8) (BB18) (GR3) (CD antigen CD100)
Protein function Cell surface receptor for PLXNB1 and PLXNB2 that plays an important role in cell-cell signaling (PubMed:20877282). Regulates GABAergic synapse development (By similarity). Promotes the development of inhibitory synapses in a PLXNB1-dependent man
PDB 1OLZ , 3OL2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 52 480 Sema domain Family
PF01437 PSI 502 554 Plexin repeat Family
PF00047 ig 561 639 Immunoglobulin domain Domain
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in skeletal muscle, peripheral blood lymphocytes, spleen, and thymus and also expressed at lower levels in testes, brain, kidney, small intestine, prostate, heart, placenta, lung and pancreas, but not in colon and li
Sequence
MRMCTPIRGLLMALAVMFGTAMAFAPIPRITWEHREVHLVQFHEPDIYNYSALLLSEDKD
TLYIGAREAVFAVNALNISEKQHEVYWKVSEDKKAKCAEKGKSKQTECLNYIRVLQPLSA
TSLYVCGTNAFQPACDHLNLTSFKFLGKNEDGKGRCPFDPAHSYTSVMVDGELYSGTSYN
FLGSEPIISRNSSHSPLRTEYAIPWLNEPSFVFADVIRKSPDSPDGEDDRVYFFFTEVSV
EYEFVFRVLIPRIARVCKGDQGGLRTLQKKWTSFLKARLICSRPDSGLVFNVLRDVFVLR
SPGLKVPVFYALFTPQLNNVGLSAVCAYNLSTAEEVFSHGKYMQSTTVEQSHTKWVRYNG
PVPKPRPGACIDSEARAANYTSSLNLPDKTLQFVKDHPLMDDSVTPIDNRPRLIKKDVNY
TQIVVDRTQALDGTVYDVMFVSTDRGALHKAISLEHAVHIIEETQLFQDFEPVQTLLLSS

KKGNRFVYAGSNSGVVQAPLAFCGKHGTCEDCVLARDPYCAWSPPTATCVALHQTESPSR
GLIQEMSGDASVCP
DKSKGSYRQHFFKHGGTAELKCSQKSNLARVFWKFQNGVLKAESPK
YGLMGRKNLLIFNLSEGDSGVYQCLSEERVKNKTVFQVV
AKHVLEVKVVPKPVVAPTLSV
VQTEGSRIATKVLVASTQGSSPPTPAVQATSSGAITLPPKPAPTGTSCEPKIVINTVPQL
HSEKTMYLKSSDNRLLMSLFLFFFVLFLCLFFYNCYKGYLPRQCLKFRSALLIGKKKPKS
DFCDREQSLKETLVEPGSFSQQNGEHPKPALDTGYETEQDTITSKVPTDREDSQRIDDLS
ARDKPFDVKCELKFADSDADGD
Sequence length 862
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   Sema4D mediated inhibition of cell attachment and migration
Sema4D induced cell migration and growth-cone collapse
Other semaphorin interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
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
Anti-SEMA4D Monoclonal Antibody VX15/2503 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Abortion Spontaneous Associate 22606231
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 35710585
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Thoracic Associate 31035427
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Associate 30538782
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Associate 26417899
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Associate 30529763
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Associate 21244334, 33013906
★☆☆☆☆
Found in Text Mining only
Benign non infected urachal cyst Associate 33776991
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 34854398
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 32149403
★☆☆☆☆
Found in Text Mining only