PTPN23 (protein tyrosine phosphatase non-receptor type 23)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 25930
Gene name Protein tyrosine phosphatase non-receptor type 23
Gene symbol PTPN23
Synonyms (NCBI Gene)
HD-PTPHDPTPNEDBASSPTP-TD14
Chromosome 3
Chromosome location 3p21.31
Summary This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN)
SNPs SNP information provided by dbSNP.
12
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
SNP ID Visualize variation Clinical significance Consequence
rs138076291 C>G,T Likely-pathogenic Missense variant, coding sequence variant
rs147293860 A>C,G Likely-pathogenic Coding sequence variant, missense variant
rs148689441 G>A Likely-pathogenic Coding sequence variant, missense variant
rs150712932 C>T Likely-pathogenic Coding sequence variant, missense variant
rs577689618 G>A,T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
miRTarBase ID miRNA Experiments Reference
MIRT051946 hsa-let-7b-5p CLASH 23622248
MIRT050524 hsa-miR-20a-5p CLASH 23622248
MIRT048027 hsa-miR-148a-3p CLASH 23622248
MIRT053242 hsa-miR-142-3p Luciferase reporter assayqRT-PCRWestern blot 23843459
MIRT2081113 hsa-miR-1912 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (40)
GO ID Ontology Definition Evidence Reference
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IMP 21724833
GO:0005515 Function Protein binding IPI 17174262, 18434552, 18835089, 19523899, 20936779, 21179510, 21724833, 25416956, 28514442, 31515488, 32079660, 32296183, 33961781
GO:0005634 Component Nucleus IDA 21179510
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606584 14406 ENSG00000076201
Protein Protein information from UniProt database.
Gene SNPs 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.
Q9H3S7
Protein name Tyrosine-protein phosphatase non-receptor type 23 (EC 3.1.3.48) (His domain-containing protein tyrosine phosphatase) (HD-PTP) (Protein tyrosine phosphatase TD14) (PTP-TD14)
Protein function Plays a role in sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) via its interaction with the ESCRT-I complex (endosomal sorting complex required for transport I), and possibly also other ESCRT complexes (PubMed:184345
PDB 3RAU , 5CRU , 5CRV , 5LM1 , 5LM2 , 5MJY , 5MJZ , 5MK0 , 5MK1 , 5MK2 , 5MK3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03097 BRO1 9 → 380 BRO1-like domain Domain
PF13949 ALIX_LYPXL_bnd 416 → 702 ALIX V-shaped domain binding to HIV Domain
PF00102 Y_phosphatase 1217 → 1451 Protein-tyrosine phosphatase Domain
Sequence 
MEAVPRMPMIWLDLKEAGDFHFQPAVKKFVLKNYGENPEAYNEELKKLELLRQNAVRVPR
DFEGCSVLRKYLGQLHYLQSRVPMGSGQEAAVPVTWTEIFSGKSVAHEDIKYEQACILYN
LGALHSMLGAMDKRVSEEGMKVSCTHFQCAAGAFAYLREHFPQAYSVDMSRQILTLNVNL
MLGQAQECLLEKSMLDNRKSFLVARISAQVVDYYKEACRALENPDTASLLGRIQKDWKKL
VQMKIYYFAAVAHLHMGKQAEEQQKFGERVAYFQSALDKLNEAIKLAKGQPDTVQDALRF
TMDVIGGKYNSAKKDNDFIYHEAVPALDTLQPVKGAPLVKPLPVNPTDPAVTGPDIFAKL
VPMAAHEASSLYSEEKAKLLREMMAKIEDKNEVLDQFMDSMQLDPETVDNLDAYSHIPPQ
LMEKCAALSVRPDTVRNLVQSMQVLSGVFTDVEASLKDIRDLLEEDELLEQKFQEAVGQA
GAISITSKAELAEVRREWAKYMEVHEKASFTNSELHRAMNLHVGNLRLLSGPLDQVRAAL
PTPALSPEDKAVLQNLKRILAKVQEMRDQRVSLEQQLRELIQKDDITASLVTTDHSEMKK
LFEEQLKKYDQLKVYLEQNLAAQDRVLCALTEANVQYAAVRRVLSDLDQKWNSTLQTLVA
SYEAYEDLMKKSQEGRDFYADLESKVAALLERTQSTCQAREAARQQLLDRELKKKPPPRP
TAPKPLLPRREESEAVEAGDPPEELRSLPPDMVAGPRLPDTFLGSATPLHFPPSPFPSST
GPGPHYLSGPLPPGTYSGPTQLIQPRAPGPHAMPVAPGPALYPAPAYTPELGLVPRSSPQ
HGVVSSPYVGVGPAPPVAGLPSAPPPQFSGPELAMAVRPATTTVDSIQAPIPSHTAPRPN
PTPAPPPPCFPVPPPQPLPTPYTYPAGAKQPIPAQHHFSSGIPAGFPAPRIGPQPQPHPQ
PHPSQAFGPQPPQQPLPLQHPHLFPPQAPGLLPPQSPYPYAPQPGVLGQPPPPLHTQLYP
GPAQDPLPAHSGALPFPSPGPPQPPHPPLAYGPAPSTRPMGPQAAPLTIRGPSSAGQSTP
SPHLVPSPAPSPGPGPVPPRPPAAEPPPCLRRGAAAADLLSSSPESQHGGTQSPGGGQPL
LQPTKVDAAEGRRPQALRLIERDPYEHPERLRQLQQELEAFRGQLGDVGALDTVWRELQD
AQEHDARGRSIAIARCYSLKNRHQDVMPYDSNRVVLRSGKDDYINASCVEGLSPYCPPLV
ATQAPLPGTAADFWLMVHEQKVSVIVMLVSEAEMEKQKVARYFPTERGQPMVHGALSLAL
SSVRSTETHVERVLSLQFRDQSLKRSLVHLHFPTWPELGLPDSPSNLLRFIQEVHAHYLH
QRPLHTPIIVHCSSGVGRTGAFALLYAAVQEVEAGNGIPELPQLVRRMRQQRKHMLQEKL
HLRFCYEAVVRHVEQVLQRHGVPPPCKPLASASISQKNHLPQDSQDLVLGGDVPISSIQA
TIAKLSIRPPGGLESPVASLPGPAEPPGLPPASLPESTPIPSSSPPPLSSPLPEAPQPKE
EPPVPEAPSSGPPSSSLELLASLTPEAFSLDSSLRGKQRMSKHNFLQAHNGQGLRATRPS
DDPLSLLDPLWTLNKT
Sequence length 1636
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Interleukin-37 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
161
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Brain atrophy Likely pathogenic; Pathogenic rs730882229, rs779096974 RCV000162148
RCV000853206
Global developmental delay Likely pathogenic; Pathogenic rs730882229, rs779096974 RCV000162148
RCV000853206
Hereditary spastic paraplegia Likely pathogenic rs2107730191 RCV001729907
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity Likely pathogenic; Pathogenic rs2107713521, rs758419807, rs760750644, rs730882229, rs2546247192, rs2546247318, rs779096974, rs151119137, rs1401681748, rs1705261594, rs748130198 RCV001775221
RCV001808181
RCV002221912
RCV001171375
RCV003223536
RCV003226810
RCV001171372
RCV001171368
RCV001171369
RCV001171370
RCV001171371
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Likely benign rs767820345 RCV005869699
Colon adenocarcinoma Likely benign rs1705082423 RCV005928592
Gastric cancer Benign rs150134286 RCV005928057
Hepatocellular carcinoma Benign rs150134286 RCV005928056
Show/Hide Text Mining Associations (22)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Blindness Cortical Associate 29899372
Brain Diseases Associate 31395947
Breast Neoplasms Associate 21724833
Carcinoma Non Small Cell Lung Associate 37821451
Demyelinating Diseases Associate 29899372
Developmental Disabilities Associate 29899372, 31395947
Embryo Loss Associate 31395947
Epilepsy Associate 29899372
Epileptic Encephalopathy Early Infantile 3 Associate 29899372, 31957018
Genetic Diseases Inborn Associate 31395947