PDCD10 (programmed cell death 10)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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11235 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Programmed cell death 10 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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PDCD10 |
SynonymsGene synonyms aliases
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CCM3, TFAR15 |
ChromosomeChromosome number
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3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3q26.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
|
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 |
rs1553758385 |
T>A,G |
Uncertain-significance, likely-pathogenic |
Splice acceptor variant |
rs1553759042 |
ACTT>- |
Pathogenic |
Splice donor variant, intron variant, coding sequence variant |
rs1553759059 |
G>C |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
rs1553759139 |
C>T |
Pathogenic, likely-pathogenic |
Intron variant |
rs1553760888 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1553760900 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1553761217 |
C>T |
Pathogenic |
Splice donor variant |
rs1553761266 |
CTTT>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
rs1553762839 |
C>A,T |
Likely-pathogenic |
Splice donor variant |
rs1559941951 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1559944592 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1559944602 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1559945126 |
T>A |
Likely-pathogenic |
Splice acceptor variant |
rs1559945136 |
G>C |
Pathogenic |
Intron variant |
rs1559952217 |
A>C |
Likely-pathogenic |
Splice donor variant |
rs1559952220 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs1559952317 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1559952461 |
CT>- |
Likely-pathogenic |
Splice acceptor variant, coding sequence variant |
rs1559952467 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
rs1559953791 |
C>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant |
rs1559960758 |
A>- |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
rs1577317859 |
C>T |
Pathogenic |
Splice acceptor variant |
rs1577329627 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1577329665 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000139 |
Component |
Golgi membrane |
IEA |
|
GO:0001525 |
Process |
Angiogenesis |
IEA |
|
GO:0005515 |
Function |
Protein binding |
IPI |
16189514, 17360971, 17657516, 18782753, 20332113, 20489202, 21516116, 21561863, 23266514, 23455922, 23541896, 23665169, 24366813, 25416956, 26496610, 27807006, 28514442, 31515488, 32296183 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
22652780 |
GO:0005794 |
Component |
Golgi apparatus |
IBA |
21873635 |
GO:0005794 |
Component |
Golgi apparatus |
IDA |
20332113 |
GO:0005794 |
Component |
Golgi apparatus |
IDA |
22652780 |
GO:0005829 |
Component |
Cytosol |
IDA |
17360971, 20489202 |
GO:0005886 |
Component |
Plasma membrane |
IEA |
|
GO:0008284 |
Process |
Positive regulation of cell population proliferation |
IDA |
17360971, 23541896 |
GO:0010628 |
Process |
Positive regulation of gene expression |
IMP |
23388056 |
GO:0010629 |
Process |
Negative regulation of gene expression |
IMP |
23388056 |
GO:0019901 |
Function |
Protein kinase binding |
IBA |
21873635 |
GO:0019901 |
Function |
Protein kinase binding |
IPI |
20332113, 22652780 |
GO:0030335 |
Process |
Positive regulation of cell migration |
IDA |
23541896 |
GO:0030335 |
Process |
Positive regulation of cell migration |
IMP |
20332113 |
GO:0032874 |
Process |
Positive regulation of stress-activated MAPK cascade |
IDA |
22652780 |
GO:0033138 |
Process |
Positive regulation of peptidyl-serine phosphorylation |
IMP |
20332113 |
GO:0035023 |
Process |
Regulation of Rho protein signal transduction |
IMP |
20332113 |
GO:0036481 |
Process |
Intrinsic apoptotic signaling pathway in response to hydrogen peroxide |
IGI |
22652780 |
GO:0042542 |
Process |
Response to hydrogen peroxide |
IDA |
22291017 |
GO:0042803 |
Function |
Protein homodimerization activity |
IPI |
20489202, 21561863 |
GO:0043066 |
Process |
Negative regulation of apoptotic process |
IDA |
17360971 |
GO:0043149 |
Process |
Stress fiber assembly |
IMP |
20332113 |
GO:0043406 |
Process |
Positive regulation of MAP kinase activity |
IBA |
21873635 |
GO:0043406 |
Process |
Positive regulation of MAP kinase activity |
IDA |
17360971 |
GO:0044319 |
Process |
Wound healing, spreading of cells |
IMP |
20332113 |
GO:0045747 |
Process |
Positive regulation of Notch signaling pathway |
IMP |
23388056 |
GO:0047485 |
Function |
Protein N-terminus binding |
IPI |
20489202 |
GO:0050821 |
Process |
Protein stabilization |
IMP |
20332113, 22652780 |
GO:0051683 |
Process |
Establishment of Golgi localization |
IMP |
20332113 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
19056867, 20458337, 23533145 |
GO:0071902 |
Process |
Positive regulation of protein serine/threonine kinase activity |
IMP |
20332113 |
GO:0090051 |
Process |
Negative regulation of cell migration involved in sprouting angiogenesis |
IMP |
23388056 |
GO:0090168 |
Process |
Golgi reassembly |
IMP |
20332113 |
GO:0090316 |
Process |
Positive regulation of intracellular protein transport |
IMP |
27807006 |
GO:0090443 |
Component |
FAR/SIN/STRIPAK complex |
IBA |
21873635 |
GO:1903358 |
Process |
Regulation of Golgi organization |
IBA |
21873635 |
GO:1903588 |
Process |
Negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis |
IMP |
23388056 |
GO:1990830 |
Process |
Cellular response to leukemia inhibitory factor |
IEA |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
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
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF06840 |
DUF1241 |
14 → 161 |
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Family |
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Sequence |
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Sequence length |
212 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Cerebral arteriovenous malformation |
Arteriovenous Malformations, Cerebral |
rs121913529, rs17851045, rs1553178399, rs781410462, rs577890523, rs1554047435, rs778089198, rs1554810174, rs1555238867, rs1555196298, rs1555556099, rs1555630396, rs1555985260, rs1585998247 |
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Cerebral cavernous malformation |
Cerebral Cavernous Malformations 3, Familial cerebral cavernous malformation |
rs1577329665, rs2108438229, rs1577317859, rs1562848466, rs137852841, rs137852842, rs1562906981, rs137852843, rs2131309013, rs2131308132, rs2131309179, rs267607203, rs1563302930, rs137853139, rs137853140, rs267607204, rs797044623, rs886039572, rs886039571, rs886039402, rs886039401, rs886039659, rs886039400, rs886041157, rs886041209, rs886043300, rs1057517786, rs1057517753, rs1057517754, rs1057518665, rs965713946, rs1064793348, rs1554528541, rs1554518386, rs1554502927, rs1554503009, rs755800734, rs1554518541, rs1554529341, rs1554503702, rs757560062, rs1553758385, rs1553759042, rs1553759139, rs1553761266, rs1553760900, rs1303470125, rs1554365511, rs1554504484, rs1554513061, rs1554365507, rs1554489785, rs1554518783, rs1554527779, rs1554539120, rs1180476377, rs1331502949, rs1554527817, rs1554527925, rs1554377652, rs1554504519, rs1554512658, rs1554513070, rs1554514380, rs1554513911, rs1554527032, rs1554490317, rs771656368, rs1554527169, rs1554518750, rs1553759059, rs1326827713, rs1554527922, rs1559941951, rs1562912426, rs1563301954, rs1559952317, rs1559941903, rs1563263905, rs1562906798, rs1563266147, rs1468613071, rs1563275562, rs1563244629, rs1562921605, rs1404676956, rs1357917630, rs1559952467, rs1562848479, rs1562882049, rs1562882045, rs1562907365, rs1562912528, rs1562913873, rs1562917629, rs1331484727, rs1563211627, rs1563212150, rs1041438637, rs1563239833, rs1563240592, rs1563243016, rs1563244596, rs1563244618, rs1563244807, rs549591728, rs1563263366, rs1563264113, rs1563265959, rs1563266163, rs1563266658, rs1563267100, rs779465895, rs780114710, rs1563301305, rs764960797, rs1563302941, rs1563302951, rs1563305064, rs1563305648, rs866982998, rs1563313372, rs1562881854, rs1577329627, rs1583970495, rs1584800138, rs1584873058, rs1584881309, rs1584975743, rs1584976350, rs1584981589, rs1583984070, rs1584807148, rs1720895403, rs765548101, rs1437280900, rs756276859, rs767248510, rs1790085048, rs1790098079, rs997111087, rs1795435288, rs1798067945, rs1798228728, rs1798241938, rs777198867, rs1790081665, rs1795437460, rs1795541254 |
25354366, 23485406, 23801932, 15543491, 18035376, 26896283, 23595507, 15543491 |
Venous malformation |
Congenital abnormality of vein, Venous malformation |
rs770780171 |
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Meningioma |
Meningioma |
rs587776563, rs121434259, rs387906857, rs397509405, rs397509406, rs397509407, rs397509408, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937, rs1589596143, rs2037146593, rs2037146907 |
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Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cavernous hemangioma of retina |
Cavernous hemangioma of retina |
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Hemangioma of choroid |
Hemangioma of choroid |
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Hemangioma, cavernous |
Hemangioma, Cavernous |
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Impaired cognition |
Impaired cognition |
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Neuroma |
Neuroma |
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Skin diseases, vascular |
Skin Diseases, Vascular |
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