AutismKB 2.0

Annotation Details for SEMA4D


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Basic Information Top
Gene Symbol:SEMA4D ( C9orf164,CD100,FLJ33485,FLJ34282,FLJ39737,FLJ46484,M-sema-G,MGC169138,MGC169141,SEMAJ,coll-4 )
Gene Full Name: sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D
Band: 9q22.2
Quick LinksEntrez ID:10507; OMIM: 601866; Uniprot ID:SEM4D_HUMAN; ENSEMBL ID: ENSG00000187764; HGNC ID: 10732
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005615ISS-extracellular space-
GO:0005886TAS-plasma membrane-
GO:0005887IDA-integral component of plasma membrane8876214
GO ID Evidence Qualifier GO_term References
GO:0004872IDA-receptor activity15613544
GO:0004888IMP-transmembrane signaling receptor activity20877282
GO:0005102IDA-receptor binding11254688
GO:0005515IPI-protein binding20877282
GO:0030215IPI-semaphorin receptor binding15218527
GO:0030215ISS-semaphorin receptor binding-
GO ID Evidence Qualifier GO_term References
GO:0000122IMP-negative regulation of transcription from RNA polymerase II promoter22019888
GO:0001934IDA-positive regulation of protein phosphorylation16055703
GO:0006955TAS-immune response8876214
GO:0007155TAS-cell adhesion8876214
GO:0007162IDA-negative regulation of cell adhesion15218527
GO:0008360IMP-regulation of cell shape20877282
GO:0010693IMP-negative regulation of alkaline phosphatase activity22019888
GO:0014068IMP-positive regulation of phosphatidylinositol 3-kinase signaling16055703
GO:0030335IDA-positive regulation of cell migration16055703
GO:0030335ISS-positive regulation of cell migration-
GO:0031344IMP-regulation of cell projection organization20877282
GO:0043066TAS-negative regulation of apoptotic process8876214
GO:0043547IMP-positive regulation of GTPase activity19788569
GO:0043547ISS-positive regulation of GTPase activity-
GO:0043931IMP-ossification involved in bone maturation22019888
GO:0045668ISS-negative regulation of osteoblast differentiation-
GO:0048672IMP-positive regulation of collateral sprouting19788569
GO:0048814IMP-regulation of dendrite morphogenesis19788569
GO:0050731ISS-positive regulation of peptidyl-tyrosine phosphorylation-
GO:0050732ISS-negative regulation of peptidyl-tyrosine phosphorylation-
GO:0070486IMP-leukocyte aggregation8876214
GO:0071526IDA-semaphorin-plexin signaling pathway15218527
GO:0071526IMP-semaphorin-plexin signaling pathway19788569
GO:1900220ISS-semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SEMA4DCD7211576611114375 12882840 Affinity Capture-Western; Reconstituted Complex
SEMA4DCD7210740911114375 12882840 Affinity Capture-Western; Reconstituted Complex
SEMA4DPLXNB111576611937491 Affinity Capture-Western
SEMA4DPLXNB111137711937491 Affinity Capture-Western
SEMA4DPTPRC1117528955171 Affinity Capture-Western
SEMA4DPTPRC1157668955171 Affinity Capture-Western
SEMA4DSEMA4D1157661530858 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
SEMA4Drs11526468, rs13284404 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:109244
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018