Gene Gene information from NCBI Gene database.
Entrez ID 55558
Gene name Plexin A3
Gene symbol PLXNA3
Synonyms (NCBI Gene)
6.3HSSEXGENEPLXN3PLXN4XAP-6
Chromosome X
Chromosome location Xq28
Summary This gene encodes a member of the plexin class of proteins. The encoded protein is a class 3 semaphorin receptor, and may be involved in cytoskeletal remodeling and as well as apoptosis. Studies of a similar gene in zebrafish suggest that it is important
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs202070666 G>A Likely-pathogenic Upstream transcript variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs782515431 G>C Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
234
miRTarBase ID miRNA Experiments Reference
MIRT018079 hsa-miR-335-5p Microarray 18185580
MIRT687218 hsa-miR-6512-5p HITS-CLIP 23313552
MIRT687217 hsa-miR-508-5p HITS-CLIP 23313552
MIRT687216 hsa-miR-5586-3p HITS-CLIP 23313552
MIRT687215 hsa-miR-5694 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0002116 Component Semaphorin receptor complex IBA
GO:0002116 Component Semaphorin receptor complex TAS 19909241
GO:0005515 Function Protein binding IPI 20138877
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
300022 9101 ENSG00000130827
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51805
Protein name Plexin-A3 (Plexin-4) (Semaphorin receptor SEX)
Protein function Coreceptor for SEMA3A and SEMA3F. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Regulates the migration of sympathetic neurons, but n
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 35 469 Sema domain Family
PF01437 PSI 490 540 Plexin repeat Family
PF17960 TIG_plexin 545 636 TIG domain Domain
PF01437 PSI 637 685 Plexin repeat Family
PF18020 TIG_2 690 784 TIG domain found in plexin Domain
PF01833 TIG 840 932 IPT/TIG domain Domain
PF01833 TIG 935 1019 IPT/TIG domain Domain
PF01833 TIG 1023 1121 IPT/TIG domain Domain
PF01833 TIG 1126 1209 IPT/TIG domain Domain
PF08337 Plexin_cytopl 1293 1841 Plexin cytoplasmic RasGAP domain Family
Sequence
MPSVCLLLLLFLAVGGALGNRPFRAFVVTDTTLTHLAVHRVTGEVFVGAVNRVFKLAPNL
TELRAHVTGPVEDNARCYPPPSMRVCAHRLAPVDNINKLLLIDYAARRLVACGSIWQGIC
QFLRLDDLFKLGEPHHRKEHYLSGAQEPDSMAGVIVEQGQGPSKLFVGTAVDGKSEYFPT
LSSRKLISDEDSADMFSLVYQDEFVSSQIKIPSDTLSLYPAFDIYYIYGFVSASFVYFLT
LQLDTQQTLLDTAGEKFFTSKIVRMCAGDSEFYSYVEFPIGCSWRGVEYRLVQSAHLAKP
GLLLAQALGVPADEDVLFTIFSQGQKNRASPPRQTILCLFTLSNINAHIRRRIQSCYRGE
GTLALPWLLNKELPCINTPMQINGNFCGLVLNQPLGGLHVIEGLPLLADSTDGMASVAAY
TYRQHSVVFIGTRSGSLKKVRVDGFQDAHLYETVPVVDGSPILRDLLFS
PDHRHIYLLSE
KQVSQLPVETCEQYQSCAACLGSGDPHCGWCVLRHRCCREGACLGASAPHGFAEELSKCV
QVRVRPNNVSVTSPGVQLTVTLHNVPDLSAGVSCAFEAAAENEAVLLPSGELLCPSPSLQ
ELRALTRGHGATRTVRLQLLSKETGVRFAGADFVFY
NCSVLQSCMSCVGSPYPCHWCKYR
HTCTSRPHECSFQEGRVHSPEGCPE
ILPSGDLLIPVGVMQPLTLRAKNLPQPQSGQKNYE
CVVRVQGRQQRVPAVRFNSSSVQCQNASYSYEGDEHGDTELDFSVVWDGDFPIDKPPSFR
ALLY
KCWAQRPSCGLCLKADPRFNCGWCISEHRCQLRTHCPAPKTNWMHLSQKGTRCSHP
RITQIHPLVGPKEGGTRVTIVGDNLGLLSREVGLRVAGVRCNSIPAEYISAERIVCEMEE
SLVPSPPPGPVELCVGDCSADFRTQSEQVYSF
VTPTFDQVSPSRGPASGGTRLTISGSSL
DAGSRVTVTVRDSECQFVRRDAKAIVCISPLSTLGPSQAPITLAIDRANISSPGLIYTY
T
QDPTVTRLEPTWSIINGSTAITVSGTHLLTVQEPRVRAKYRGIETTNTCQVINDTAMLCK
APGIFLGRPQPRAQGEHPDEFGFLLDHVQTARSLNRSSFTY
YPDPSFEPLGPSGVLDVKP
GSHVVLKGKNLIPAAAGSSRLNYTVLIGGQPCSLTVSDTQLLCDSPSQTGRQPVMVLVGG
LEFWLGTLH
ISAERALTLPAMMGLAAGGGLLLLAITAVLVAYKRKTQDADRTLKRLQLQM
DNLESRVALECKEAFAELQTDINELTNHMDEVQIPFLDYRTYAVRVLFPGIEAHPVLKEL
DTPPNVEKALRLFGQLLHSRAFVLTFIHTLEAQSSFSMRDRGTVASLTMVALQSRLDYAT
GLLKQLLADLIEKNLESKNHPKLLLRRTESVAEKMLTNWFTFLLHKFLKECAGEPLFLLY
CAIKQQMEKGPIDAITGEARYSLSEDKLIRQQIDYKTLTLHCVCPENEGSAQVPVKVLNC
DSITQAKDKLLDTVYKGIPYSQRPKAEDMDLEWRQGRMTRIILQDEDVTTKIECDWKRLN
SLAHYQVTDGSLVALVPKQVSAYNMANSFTFTRSLSRYESLLRTASSPDSLRSRAPMITP
DQETGTKLWHLVKNHDHADHREGDRGSKMVSEIYLTRLLATKGTLQKFVDDLFETVFSTA
HRGSALPLAIKYMFDFLDEQADQRQISDPDVRHTWKSNCLPLRFWVNVIKNPQFVFDIHK
NSITDACLSVVAQTFMDSCSTSEHRLGKDSPSNKLLYAKDIPNYKSWVERYYRDIAKMAS
ISDQDMDAYLVEQSRLHASDFSVLSALNELYFYVTKYRQEI
LTALDRDASCRKHKLRQKL
EQIISLVSSDS
Sequence length 1871
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   Sema3A PAK dependent Axon repulsion
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
CRMPs in Sema3A signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
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
Alzheimer disease, familial, type 3 Alzheimer disease BEFREE 31158389
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 34740135 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 34740135 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 21925246
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 21658281
★☆☆☆☆
Found in Text Mining only
Cataract Cataract BEFREE 28571893, 30733210
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic Fibrosis BEFREE 29742360
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 30551341
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 34740135 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 29742360
★☆☆☆☆
Found in Text Mining only