Gene Gene information from NCBI Gene database.
Entrez ID 5365
Gene name Plexin B3
Gene symbol PLXNB3
Synonyms (NCBI Gene)
PLEXB3PLEXRPLXN6
Chromosome X
Chromosome location Xq28
Summary The protein encoded by this gene is a member of the plexin family. It functions as a receptor for semaphorin 5A, and plays a role in axon guidance, invasive growth and cell migration. Alternatively spliced transcript variants encoding different isoforms h
miRNA miRNA information provided by mirtarbase database.
43
miRTarBase ID miRNA Experiments Reference
MIRT1243891 hsa-miR-125a-3p CLIP-seq
MIRT1243892 hsa-miR-1293 CLIP-seq
MIRT1243893 hsa-miR-1587 CLIP-seq
MIRT1243894 hsa-miR-3120-5p CLIP-seq
MIRT1243895 hsa-miR-3934 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0001938 Process Positive regulation of endothelial cell proliferation IMP 19850054
GO:0002116 Component Semaphorin receptor complex IBA
GO:0005515 Function Protein binding IPI 15184888, 16122393, 21706053
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300214 9105 ENSG00000198753
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULL4
Protein name Plexin-B3
Protein function Receptor for SEMA5A that plays a role in axon guidance, invasive growth and cell migration. Stimulates neurite outgrowth and mediates Ca(2+)/Mg(2+)-dependent cell aggregation. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassem
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 56 452 Sema domain Family
PF01437 PSI 473 526 Plexin repeat Family
PF17960 TIG_plexin 532 619 TIG domain Domain
PF18020 TIG_2 689 786 TIG domain found in plexin Domain
PF01833 TIG 835 924 IPT/TIG domain Domain
PF01833 TIG 927 1011 IPT/TIG domain Domain
PF01833 TIG 1159 1243 IPT/TIG domain Domain
PF08337 Plexin_cytopl 1327 1876 Plexin cytoplasmic RasGAP domain Family
Tissue specificity TISSUE SPECIFICITY: Expression detected in Purkinje and granular cells in cerebellum, and in brain neocortex but not in corpus callosum. Expressed in glioma cells and embryonic kidney cells (at protein level). Expressed in brain, liver, pancreas and place
Sequence
MCHAAQETPLLHHFMAPVMARWPPFGLCLLLLLLSPPPLPLTGAHRFSAPNTTLNHLALA
PGRGTLYVGAVNRLFQLSPELQLEAVAVTGPVIDSPDCVPFRDPAECPQAQLTDNANQLL
LVSSRAQELVACGQVRQGVCETRRLGDVAEVLYQAEDPGDGQFVAANTPGVATVGLVVPL
PGRDLLLVARGLAGKLSAGVPPLAIRQLAGSQPFSSEGLGRLVVGDFSDYNNSYVGAFAD
ARSAYFVFRRRGARAQAEYRSYVARVCLGDTNLYSYVEVPLACQGQGLIQAAFLAPGTLL
GVFAAGPRGTQAALCAFPMVELGASMEQARRLCYTAGGRGPSGAEEATVEYGVTSRCVTL
PLDSPESYPCGDEHTPSPIAGRQPLEVQPLLKLGQPVSAVAALQADGHMIAFLGDTQGQL
YKVFLHGSQGQVYHSQQVGPPGSAISPDLLLD
SSGSHLYVLTAHQVDRIPVAACPQFPDC
ASCLQAQDPLCGWCVLQGRCTRKGQCGRAGQLNQWLWSYEEDSHCL
HIQSLLPGHHPRQE
QGQVTLSVPRLPILDADEYFHCAFGDYDSLAHVEGPHVACVTPPQDQVPLNPPGTDHVTV
PLALMFEDVTVAATNFSFY
DCSAVQALEAAAPCRACVGSIWRCHWCPQSSHCVYGEHCPE
GERTIYSAQEVDIQVRGPGACPQVEGLAGPHLVPVGWESHLALRVRNLQHFRGLPASFHC
WLELPGELRGLPATLEETAGDSGLIHCQAHQFYPSMSQRELPVPIYVTQGEAQRLDNTHA
LYVILY
DCAMGHPDCSHCQAANRSLGCLWCADGQPACRYGPLCPPGAVELLCPAPSIDAV
EPLTGPPEGGLALTILGSNLGRAFADVQYAVSVASRPCNPEPSLYRTSARIVCVTSPAPN
GTTGPVRVAIKSQPPGISSQHFTY
QDPVLLSLSPRWGPQAGGTQLTIRGQHLQTGGNTSA
FVGGQPCPILEPVCPEAIVCRTRPQAAPGEAAVLVVFGHAQRTLLASPFRY
TANPQLVAA
EPSASFRGGGRLIRVRGTGLDVVQRPLLSVWLEADAEVQASRAQPQDPQPRRSCGAPAAD
PQACIQLGGGLLQCSTVCSVNSSSLLLCRSPAVPDRAHPQRVFFTLDNVQVDFASASGGQ
GFLYQPNPRLAPLSREGPARPYRLKPGHVLDVEGEGLNLGISKEEVRVHIGRGECLVKTL
TRTHLYCEPPAHAPQPANGSGLPQFVVQMGNVQLALGPVQYEA
EPPLSAFPVEAQAGVGM
GAAVLIAAVLLLTLMYRHKSKQALRDYQKVLVQLESLETGVGDQCRKEFTDLMTEMTDLS
SDLEGSGIPFLDYRTYAERAFFPGHGGCPLQPKPEGPGEDGHCATVRQGLTQLSNLLNSK
LFLLTLIHTLEEQPSFSQRDRCHVASLLSLALHGKLEYLTDIMRTLLGDLAAHYVHRNPK
LMLRRTETMVEKLLTNWLSICLYAFLREVAGEPLYMLFRAIQYQVDKGPVDAVTGKAKRT
LNDSRLLREDVEFQPLTLMVLVGPGAGGAAGSSEMQRVPARVLDTDTITQVKEKVLDQVY
KGTPFSQRPSVHALDLEWRSGLAGHLTLSDEDLTSVTQNHWKRLNTLQHYKVPDGATVGL
VPQLHRGSTISQSLAQRCPLGENIPTLEDGEEGGVCLWHLVKATEEPEGAKVRCSSLRER
EPARAKAIPEIYLTRLLSMKGTLQKFVDDTFQAILSVNRPIPIAVKYLFDLLDELAEKHG
IEDPGTLHIWKTNSLLLRFWVNALKNPQLIFDVRVSDNVDAILAVIAQTFIDSCTTSEHK
VGRDSPVNKLLYAREIPRYKQMVERYYADIRQSSPASYQEMNSALAELSGNYTSAPHCLE
ALQELYNHIHRYYDQI
ISALEEDPVGQKLQLACRLQQVAALVENKVTDL
Sequence length 1909
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   Other semaphorin interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
Neurodevelopmental disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PLXNB3-related disorder Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PLXNB3-related Intellectual disability Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 37768037 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 37919459 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 20696765, 21706053
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 19522033 Stimulate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 19462467
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 17033634
★☆☆☆☆
Found in Text Mining only
Stomach Carcinoma Stomach Carcinoma BEFREE 19522033
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 19522033 Associate
★☆☆☆☆
Found in Text Mining only