PLXND1 (plexin D1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23129
Gene name Plexin D1
Gene symbol PLXND1
Synonyms (NCBI Gene)
CHTD9PLEXD1
Chromosome 3
Chromosome location 3q22.1
miRNA miRNA information provided by mirtarbase database.
468
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604282 9107 ENSG00000004399
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
97
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital heart defects, multiple types, 9 Pathogenic rs2085164025, rs2533094115, rs2533302580, rs2085270404, rs1458204589 RCV003155528
RCV003155529
RCV003155530
RCV003155531
RCV003155532
Show/Hide Unknown Diseases (18)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Uncertain significance rs2285372, rs146413906, rs147110369 RCV005935462
RCV005933309
RCV005907371
Cholangiocarcinoma Benign rs2285372 RCV005935472
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign; Likely benign rs2285372, rs373899940 RCV005935473
RCV005903148
Colon adenocarcinoma Benign rs2285372 RCV005935461
Show/Hide Text Mining Associations (18)
Associations from Text MiningDisease 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