Gene Gene information from NCBI Gene database.
Entrez ID 11235
Gene name Programmed cell death 10
Gene symbol PDCD10
Synonyms (NCBI Gene)
CCM3TFAR15
Chromosome 3
Chromosome location 3q26.1
Summary This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is ph
SNPs SNP information provided by dbSNP.
29
SNP ID Visualize variation Clinical significance Consequence
rs886041888 ->T Pathogenic Frameshift variant, coding sequence variant
rs1057517786 G>A Pathogenic Stop gained, 5 prime UTR variant, coding sequence variant
rs1303470125 G>A,C Pathogenic Missense variant, stop gained, coding sequence variant
rs1357917630 G>A Pathogenic Stop gained, coding sequence variant
rs1404676956 G>A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
326
miRTarBase ID miRNA Experiments Reference
MIRT020819 hsa-miR-155-5p Proteomics 18668040
MIRT023428 hsa-miR-30b-5p Sequencing 20371350
MIRT023815 hsa-miR-1-3p Proteomics 18668040
MIRT023815 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT028601 hsa-miR-30a-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001525 Process Angiogenesis IEA
GO:0003158 Process Endothelium development NAS 17657516
GO:0005515 Function Protein binding IPI 16189514, 17360971, 17657516, 18782753, 20332113, 20489202, 21516116, 21561863, 22652780, 23266514, 23455922, 23541896, 23665169, 24366813, 25416956, 26496610, 27807006, 28514442, 31515488, 32296183, 32707033, 33961781, 35271311
GO:0005737 Component Cytoplasm IDA 22652780
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609118 8761 ENSG00000114209
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BUL8
Protein name Programmed cell death protein 10 (Cerebral cavernous malformations 3 protein) (TF-1 cell apoptosis-related protein 15)
Protein function Promotes cell proliferation. Modulates apoptotic pathways. Increases mitogen-activated protein kinase activity and STK26 activity (PubMed:27807006). Important for cell migration, and for normal structure and assembly of the Golgi complex (PubMed
PDB 3AJM , 3L8I , 3L8J , 3RQE , 3RQF , 3RQG , 3W8H , 3W8I , 4GEH , 4TVQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06840 DUF1241 14 161 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:15543491}.
Sequence
Sequence length 212
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cavernous hemangioma Likely pathogenic; Pathogenic rs1553759139 RCV000626904
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral arteriovenous malformation Likely pathogenic; Pathogenic rs1553759139 RCV000626904
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral cavernous malformation Pathogenic; Likely pathogenic rs1057517786, rs1559941951, rs1719762092 RCV001727711
RCV001727795
RCV004783908
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral cavernous malformation 1 Pathogenic rs2108438340 RCV001823320
★★★★☆
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
ARTERIOVENOUS MALFORMATIONS, CEREBRAL Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAVERNOUS HEMANGIOMA OF BRAIN Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL CAVERNOUS MALFORMATIONS 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL CAVERNOUS MALFORMATIONS 3 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
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
Arteriovenous Malformations, Cerebral Cerebral arteriovenous malformation CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm Bladder Neoplasm BEFREE 30272373
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 17212813 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 19442737
★☆☆☆☆
Found in Text Mining only
Brain Stem Neoplasms Brain stem neoplasms Pubtator 36629374 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30408026
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30653426, 35431232 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 30272373
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 39212293 Associate
★☆☆☆☆
Found in Text Mining only
Cavernous hemangioma of retina Cavernous Hemangioma Of Retina HPO_DG
★☆☆☆☆
Found in Text Mining only