PLXND1 (plexin D1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(468)
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(47)
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604282 9107 ENSG00000004399
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
NYTAVFLGTVNGRLLKINLNESMQVVSRRVVTVAYGEPVHHVMQFDPADSGYLYLMTSHQ
MARVKVAACNVHSTCGDCVGAADAYCGWCALETRCTLQQDCTNSSQQHFWTSASEGPSRC
PAMTVLPSEIDVRQEYPGMILQISGSLPSLSGMEMACDYGNNIRTVARVPGPAFGHQIAY
CNLLPRDQFPPFPPNQDHVTVEMSVRVNGRNIVKANFTIYDCSRTAQVYPHTACTSCLSA
QWPCFWCSQQHSCVSNQSRCEASPNPTSPQDCPRTLLSPLAPVPTGGSQNILVPLANTAF
FQGAALECSFGLEEIFEAVWVNESVVRCDQVVLHTTRKSQVFPLSLQLKGRPARFLDSPE
PMTVMVYNCAMGSPDCSQCLGREDLGHLCMWSDGCRLRGPLQPMAGTCPAPEIHAIEPLS
GPLDGGTLLTIRGRNLGRRLSDVAHGVWIGGVACEPLPDRYTVSEEIVCVTGPAPGPLSG
VVTVNASKEGKSRDRFSYVLPLVHSLEPTMGPKAGGTRITIHGNDLHVGSELQVLVNDTD
PCTELMRTDTSIACTMPEGALPAPVPVCVRFERRGCVHGNLTFWYMQNPVITAISPRRSP
VSGGRTITVAGERFHMVQNVSMAVHHIGREPTLCKVLNSTLITCPSPGALSNASAPVDFF
INGRAYADEVAVAEELLDPEEAQRGSRFRLDYLPNPQFSTAKREKWIKHHPGEPLTLVIH
KEQDSLGLQSHEYRVKIGQVSCDIQIVSDRIIHCSVNESLGAAVGQLPITIQVGNFNQTI
ATLQLGGSETAIIVSIVICSVLLLLSVVALFVFCTKSRRAERYWQKTLLQMEEMESQIRE
EIRKGFAELQTDMTDLTKELNRSQGIPFLEYKHFVTRTFFPKCSSLYEERYVLPSQTLNS
QGSSQAQETHPLLGEWKIPESCRPNMEEGISLFSSLLNNKHFLIVFVHALEQQKDFAVRD
RCSLASLLTIALHGKLEYYTSIMKELLVDLIDASAAKNPKLMLRRTESVVEKMLTNWMSI
CMYSCLRETVGEPFFLLLCAIKQQINKGSIDAITGKARYTLSEEWLLRENIEAKPRNLNV
SFQGCGMDSLSVRAMDTDTLTQVKEKILEAFCKNVPYSQWPRAEDVDLEWFASSTQSYIL
RDLDDTSVVEDGRKKLNTLAHYKIPEGASLAMSLIDKKDNTLGRVKDLDTEKYFHLVLPT
DELAEPKKSHRQSHRKKVLPEIYLTRLLSTKGTLQKFLDDLFKAILSIREDKPPLAVKYF
FDFLEEQAEKRGISDPDTLHIWKTNSLPLRFWVNILKNPQFVFDIDKTDHIDACLSVIAQ
AFIDACSISDLQLGKDSPTNKLLYAKEIPEYRKIVQRYYKQIQDMTPLSEQEMNAHLAEE
SRKYQNEFNTNVAMAEIYKYAKRYRPQIMAALEANPTARRTQLQHKFEQVVALMEDNIYE
CYSEA
Sequence length 1925
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Other semaphorin interactions
NOTCH3 Intracellular Domain Regulates Transcription
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital heart defects Congenital heart defects, multiple types, 9, congenital heart defects, multiple types, 9 N/A N/A ClinVar, GenCC
Diabetes Type 2 diabetes, Type 2 diabetes mellitus or coronary artery disease (pleiotropy), Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy) N/A N/A GWAS
Kleine-Levin Syndrome kleine-levin syndrome N/A N/A ClinVar
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
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