Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23129
Gene name Gene Name - the full gene name approved by the HGNC.
Plexin D1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLXND1
Synonyms (NCBI Gene) Gene synonyms aliases
CHTD9, PLEXD1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CHTD9
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q22.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001523 hsa-miR-155-5p pSILAC 18668040
MIRT017498 hsa-miR-335-5p Microarray 18185580
MIRT001523 hsa-miR-155-5p Proteomics;Other 18668040
MIRT045997 hsa-miR-125b-5p CLASH 23622248
MIRT040538 hsa-miR-92b-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis ISS
GO:0001569 Process Branching involved in blood vessel morphogenesis IEA
GO:0001822 Process Kidney development IEA
GO:0002116 Component Semaphorin receptor complex IBA 21873635
GO:0003151 Process Outflow tract morphogenesis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604282 9107 ENSG00000004399
Protein
UniProt ID Q9Y4D7
Protein name Plexin-D1
Protein function Cell surface receptor for SEMA4A and for class 3 semaphorins, such as SEMA3A, SEMA3C and SEMA3E. Plays an important role in cell-cell signaling, and in regulating the migration of a wide spectrum of cell types. Regulates the migration of thymocy
PDB 3H6N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 61 526 Sema domain Family
PF01437 PSI 548 601 Plexin repeat Family
PF17960 TIG_plexin 606 700 TIG domain Domain
PF01437 PSI 701 753 Plexin repeat Family
PF01833 TIG 891 978 IPT/TIG domain Domain
PF01833 TIG 981 1065 IPT/TIG domain Domain
PF01833 TIG 1069 1150 IPT/TIG domain Domain
PF08337 Plexin_cytopl 1345 1888 Plexin cytoplasmic RasGAP domain Family
Tissue specificity TISSUE SPECIFICITY: Detected at low levels in heart, placenta, lung, skeletal muscle, kidney, thymus and liver. Detected at very low levels in brain, colon, spleen, small intestine and peripheral blood leukocytes. {ECO:0000269|PubMed:12412018}.
Sequence
MAPRAAGGAPLSARAAAASPPPFQTPPRCPVPLLLLLLLGAARAGALEIQRRFPSPTPTN
NFALDGAAGTVYLAAVNRLYQLSGANLSLEAEAAVGPVPDSPLCHAPQLPQASCEHPRRL
TDNYNKILQLDPGQGLVVVCGSIYQGFCQLRRRGNISAVAVRFPPAAPPAEPVTVFPSML
NVAANHPNASTVGLVLPPAAGAGGSRLLVGATYTGYGSSFFPRNRSLEDHRFENTPEIAI
RSLDTRGDLAKLFTFDLNPSDDNILKIKQGAKEQHKLGFVSAFLHPSDPPPGAQSYAYLA
LNSEARAGDKESQARSLLARICLPHGAGGDAKKLTESYIQLGLQCAGGAGRGDLYSRLVS
VFPARERLFAVFERPQGSPAARAAPAALCAFRFADVRAAIRAARTACFVEPAPDVVAVLD
SVVQGTGPACERKLNIQLQPEQLDCGAAHLQHPLSILQPLKATPVFRAPGLTSVAVASVN
NYTAVFLGTVNGRLLKINLNESMQVVSRRVVTVAYGEPVHHVMQFD
PADSGYLYLMTSHQ
MARVKVAACNVHSTCGDCVGAADAYCGWCALETRCTLQQDCTNSSQQHFWTSASEGPSRC
P
AMTVLPSEIDVRQEYPGMILQISGSLPSLSGMEMACDYGNNIRTVARVPGPAFGHQIAY
CNLLPRDQFPPFPPNQDHVTVEMSVRVNGRNIVKANFTIY
DCSRTAQVYPHTACTSCLSA
QWPCFWCSQQHSCVSNQSRCEASPNPTSPQDCP
RTLLSPLAPVPTGGSQNILVPLANTAF
FQGAALECSFGLEEIFEAVWVNESVVRCDQVVLHTTRKSQVFPLSLQLKGRPARFLDSPE
PMTVMVYNCAMGSPDCSQCLGREDLGHLCMWSDGCRLRGPLQPMAGTCPAPEIHAIEPLS
GPLDGGTLLTIRGRNLGRRLSDVAHGVWIGGVACEPLPDRYTVSEEIVCVTGPAPGPLSG
VVTVNASKEGKSRDRFSY
VLPLVHSLEPTMGPKAGGTRITIHGNDLHVGSELQVLVNDTD
PCTELMRTDTSIACTMPEGALPAPVPVCVRFERRGCVHGNLTFWY
MQNPVITAISPRRSP
VSGGRTITVAGERFHMVQNVSMAVHHIGREPTLCKVLNSTLITCPSPGALSNASAPVDFF
INGRAYADEV
AVAEELLDPEEAQRGSRFRLDYLPNPQFSTAKREKWIKHHPGEPLTLVIH
KEQDSLGLQSHEYRVKIGQVSCDIQIVSDRIIHCSVNESLGAAVGQLPITIQVGNFNQTI
ATLQLGGSETAIIVSIVICSVLLLLSVVALFVFCTKSRRAERYWQKTLLQMEEMESQIRE
EIRKGFAELQTDMTDLTKELNRSQGIPFLEYKHFVTRTFFPKCSSLYEERYVLPSQTLNS
QGSSQAQETHPLLGEWKIPESCRPNMEEGISLFSSLLNNKHFLIVFVHALEQQKDFAVRD
RCSLASLLTIALHGKLEYYTSIMKELLVDLIDASAAKNPKLMLRRTESVVEKMLTNWMSI
CMYSCLRETVGEPFFLLLCAIKQQINKGSIDAITGKARYTLSEEWLLRENIEAKPRNLNV
SFQGCGMDSLSVRAMDTDTLTQVKEKILEAFCKNVPYSQWPRAEDVDLEWFASSTQSYIL
RDLDDTSVVEDGRKKLNTLAHYKIPEGASLAMSLIDKKDNTLGRVKDLDTEKYFHLVLPT
DELAEPKKSHRQSHRKKVLPEIYLTRLLSTKGTLQKFLDDLFKAILSIREDKPPLAVKYF
FDFLEEQAEKRGISDPDTLHIWKTNSLPLRFWVNILKNPQFVFDIDKTDHIDACLSVIAQ
AFIDACSISDLQLGKDSPTNKLLYAKEIPEYRKIVQRYYKQIQDMTPLSEQEMNAHLAEE
SRKYQNEFNTNVAMAEIYKYAKRYRPQI
MAALEANPTARRTQLQHKFEQVVALMEDNIYE
CYSEA
Sequence length 1925
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Other semaphorin interactions
NOTCH3 Intracellular Domain Regulates Transcription
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cafe-au-lait spot Cafe au lait spots, multiple rs1057518792, rs1555613206, rs1555608663
Unknown
Disease term Disease name Evidence References Source
Heart failure Heart Failure, Diastolic 29556499 ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Congenital heart defects congenital heart defects, multiple types, 9 GenCC
Mobius Syndrome Mobius syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Islet Cell Associate 30575306
Amyotrophic Lateral Sclerosis Associate 40185066
Amyotrophic lateral sclerosis 1 Associate 40185066
Autoimmune Diseases Associate 34539672
Brain Neoplasms Associate 19703316
Colorectal Neoplasms Associate 30231850
Dermatomyositis Associate 18671865
Frontotemporal Dementia Associate 34539672
Hemorrhage Associate 38103737
Hypertension Associate 38103737