PDCD6 (programmed cell death 6)

Gene

• Entrez ID: 10016
• Gene name: Programmed cell death 6
• Gene symbol: PDCD6
• Synonyms (NCBI Gene): ALG-2, ALG2, PEF1B
• Chromosome: 5
• Chromosome location: 5p15.33
• Summary: This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005725	hsa-miR-183-5p	qRT-PCR	20602797
MIRT040945	hsa-miR-18a-3p	CLASH	23622248
MIRT440016	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440016	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1219454	hsa-miR-1207-3p	CLIP-seq
MIRT1219455	hsa-miR-137	CLIP-seq
MIRT1219456	hsa-miR-183	CLIP-seq
MIRT1219457	hsa-miR-21	CLIP-seq
MIRT1219458	hsa-miR-218	CLIP-seq
MIRT1219459	hsa-miR-3124-3p	CLIP-seq
MIRT1219460	hsa-miR-338-5p	CLIP-seq
MIRT1219461	hsa-miR-346	CLIP-seq
MIRT1219462	hsa-miR-412	CLIP-seq
MIRT1219463	hsa-miR-4286	CLIP-seq
MIRT1219464	hsa-miR-4288	CLIP-seq
MIRT1219465	hsa-miR-4504	CLIP-seq
MIRT1219466	hsa-miR-4509	CLIP-seq
MIRT1219467	hsa-miR-4666-3p	CLIP-seq
MIRT1219468	hsa-miR-4684-3p	CLIP-seq
MIRT1219469	hsa-miR-4704-3p	CLIP-seq
MIRT1219470	hsa-miR-4716-5p	CLIP-seq
MIRT1219471	hsa-miR-4744	CLIP-seq
MIRT1219472	hsa-miR-4773	CLIP-seq
MIRT1219473	hsa-miR-4777-3p	CLIP-seq
MIRT1219474	hsa-miR-518a-5p	CLIP-seq
MIRT1219475	hsa-miR-527	CLIP-seq
MIRT1219476	hsa-miR-548aa	CLIP-seq
MIRT1219477	hsa-miR-582-5p	CLIP-seq
MIRT1219478	hsa-miR-587	CLIP-seq
MIRT1219479	hsa-miR-590-5p	CLIP-seq
MIRT1219480	hsa-miR-598	CLIP-seq
MIRT1219481	hsa-miR-632	CLIP-seq
MIRT1219482	hsa-miR-654-3p	CLIP-seq
MIRT1219483	hsa-miR-662	CLIP-seq
MIRT1219454	hsa-miR-1207-3p	CLIP-seq
MIRT1219463	hsa-miR-4286	CLIP-seq
MIRT1219454	hsa-miR-1207-3p	CLIP-seq
MIRT2063428	hsa-miR-136	CLIP-seq
MIRT1219455	hsa-miR-137	CLIP-seq
MIRT2063429	hsa-miR-1914	CLIP-seq
MIRT1219457	hsa-miR-21	CLIP-seq
MIRT1219458	hsa-miR-218	CLIP-seq
MIRT1219459	hsa-miR-3124-3p	CLIP-seq
MIRT2063430	hsa-miR-3130-3p	CLIP-seq
MIRT1219460	hsa-miR-338-5p	CLIP-seq
MIRT1219461	hsa-miR-346	CLIP-seq
MIRT2063431	hsa-miR-3914	CLIP-seq
MIRT2063432	hsa-miR-3938	CLIP-seq
MIRT1219462	hsa-miR-412	CLIP-seq
MIRT1219464	hsa-miR-4288	CLIP-seq
MIRT1219465	hsa-miR-4504	CLIP-seq
MIRT1219467	hsa-miR-4666-3p	CLIP-seq
MIRT1219469	hsa-miR-4704-3p	CLIP-seq
MIRT1219470	hsa-miR-4716-5p	CLIP-seq
MIRT1219472	hsa-miR-4773	CLIP-seq
MIRT2063433	hsa-miR-507	CLIP-seq
MIRT2063434	hsa-miR-542-3p	CLIP-seq
MIRT2063435	hsa-miR-557	CLIP-seq
MIRT1219478	hsa-miR-587	CLIP-seq
MIRT1219479	hsa-miR-590-5p	CLIP-seq
MIRT1219480	hsa-miR-598	CLIP-seq
MIRT1219481	hsa-miR-632	CLIP-seq
MIRT2063436	hsa-miR-642a	CLIP-seq
MIRT1219482	hsa-miR-654-3p	CLIP-seq
MIRT1219454	hsa-miR-1207-3p	CLIP-seq
MIRT1219455	hsa-miR-137	CLIP-seq
MIRT1219456	hsa-miR-183	CLIP-seq
MIRT2291895	hsa-miR-204	CLIP-seq
MIRT1219457	hsa-miR-21	CLIP-seq
MIRT2291896	hsa-miR-211	CLIP-seq
MIRT2063430	hsa-miR-3130-3p	CLIP-seq
MIRT2291897	hsa-miR-3143	CLIP-seq
MIRT2291898	hsa-miR-323-3p	CLIP-seq
MIRT1219460	hsa-miR-338-5p	CLIP-seq
MIRT1219461	hsa-miR-346	CLIP-seq
MIRT2063432	hsa-miR-3938	CLIP-seq
MIRT1219463	hsa-miR-4286	CLIP-seq
MIRT1219464	hsa-miR-4288	CLIP-seq
MIRT2291899	hsa-miR-4325	CLIP-seq
MIRT2291900	hsa-miR-4422	CLIP-seq
MIRT1219465	hsa-miR-4504	CLIP-seq
MIRT1219466	hsa-miR-4509	CLIP-seq
MIRT1219467	hsa-miR-4666-3p	CLIP-seq
MIRT1219469	hsa-miR-4704-3p	CLIP-seq
MIRT1219471	hsa-miR-4744	CLIP-seq
MIRT2291901	hsa-miR-4755-5p	CLIP-seq
MIRT1219472	hsa-miR-4773	CLIP-seq
MIRT1219473	hsa-miR-4777-3p	CLIP-seq
MIRT2291902	hsa-miR-494	CLIP-seq
MIRT2063433	hsa-miR-507	CLIP-seq
MIRT2291903	hsa-miR-543	CLIP-seq
MIRT1219476	hsa-miR-548aa	CLIP-seq
MIRT2063435	hsa-miR-557	CLIP-seq
MIRT1219479	hsa-miR-590-5p	CLIP-seq
MIRT1219480	hsa-miR-598	CLIP-seq
MIRT2291904	hsa-miR-623	CLIP-seq
MIRT1219481	hsa-miR-632	CLIP-seq
MIRT1219482	hsa-miR-654-3p	CLIP-seq
MIRT1219483	hsa-miR-662	CLIP-seq
MIRT1219457	hsa-miR-21	CLIP-seq
MIRT1219458	hsa-miR-218	CLIP-seq
MIRT1219459	hsa-miR-3124-3p	CLIP-seq
MIRT1219462	hsa-miR-412	CLIP-seq
MIRT1219470	hsa-miR-4716-5p	CLIP-seq
MIRT1219478	hsa-miR-587	CLIP-seq
MIRT1219479	hsa-miR-590-5p	CLIP-seq
MIRT1219461	hsa-miR-346	CLIP-seq
MIRT1219464	hsa-miR-4288	CLIP-seq
MIRT1219481	hsa-miR-632	CLIP-seq
MIRT1219482	hsa-miR-654-3p	CLIP-seq
MIRT2063428	hsa-miR-136	CLIP-seq
MIRT1219456	hsa-miR-183	CLIP-seq
MIRT2063429	hsa-miR-1914	CLIP-seq
MIRT1219458	hsa-miR-218	CLIP-seq
MIRT1219459	hsa-miR-3124-3p	CLIP-seq
MIRT2063430	hsa-miR-3130-3p	CLIP-seq
MIRT2291898	hsa-miR-323-3p	CLIP-seq
MIRT1219461	hsa-miR-346	CLIP-seq
MIRT2063432	hsa-miR-3938	CLIP-seq
MIRT1219462	hsa-miR-412	CLIP-seq
MIRT1219464	hsa-miR-4288	CLIP-seq
MIRT1219466	hsa-miR-4509	CLIP-seq
MIRT1219469	hsa-miR-4704-3p	CLIP-seq
MIRT1219470	hsa-miR-4716-5p	CLIP-seq
MIRT1219471	hsa-miR-4744	CLIP-seq
MIRT1219472	hsa-miR-4773	CLIP-seq
MIRT1219473	hsa-miR-4777-3p	CLIP-seq
MIRT2291902	hsa-miR-494	CLIP-seq
MIRT1219478	hsa-miR-587	CLIP-seq
MIRT1219481	hsa-miR-632	CLIP-seq
MIRT2063436	hsa-miR-642a	CLIP-seq
MIRT1219482	hsa-miR-654-3p	CLIP-seq
MIRT2589569	hsa-miR-760	CLIP-seq
MIRT2063428	hsa-miR-136	CLIP-seq
MIRT1219456	hsa-miR-183	CLIP-seq
MIRT2063429	hsa-miR-1914	CLIP-seq
MIRT1219458	hsa-miR-218	CLIP-seq
MIRT1219459	hsa-miR-3124-3p	CLIP-seq
MIRT2063430	hsa-miR-3130-3p	CLIP-seq
MIRT2291898	hsa-miR-323-3p	CLIP-seq
MIRT1219461	hsa-miR-346	CLIP-seq
MIRT2063431	hsa-miR-3914	CLIP-seq
MIRT2063432	hsa-miR-3938	CLIP-seq
MIRT1219462	hsa-miR-412	CLIP-seq
MIRT1219464	hsa-miR-4288	CLIP-seq
MIRT1219466	hsa-miR-4509	CLIP-seq
MIRT1219469	hsa-miR-4704-3p	CLIP-seq
MIRT1219470	hsa-miR-4716-5p	CLIP-seq
MIRT1219471	hsa-miR-4744	CLIP-seq
MIRT1219472	hsa-miR-4773	CLIP-seq
MIRT1219473	hsa-miR-4777-3p	CLIP-seq
MIRT2291902	hsa-miR-494	CLIP-seq
MIRT1219478	hsa-miR-587	CLIP-seq
MIRT1219481	hsa-miR-632	CLIP-seq
MIRT2063436	hsa-miR-642a	CLIP-seq
MIRT1219482	hsa-miR-654-3p	CLIP-seq
MIRT2589569	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000287	Function	Magnesium ion binding	ISS
GO:0001525	Process	Angiogenesis	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IDA	21893193
GO:0005509	Function	Calcium ion binding	IDA	25667979
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	11883939, 16132846, 16189514, 17174262, 17196169, 18256029, 18940611, 21893193, 21988832, 23924735, 25416956, 25667979, 25910212, 26950892, 27716508, 27784779, 27813252, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA	16957052, 17196169, 21122810, 27784779
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	21122810, 27784779
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	17196169
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006886	Process	Intracellular protein transport	IDA	21122810
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	27716508, 27813252
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	IDA	21893193
GO:0014029	Process	Neural crest formation	IMP	27716508
GO:0014032	Process	Neural crest cell development	IMP	27716508
GO:0016567	Process	Protein ubiquitination	IEA
GO:0030127	Component	COPII vesicle coat	IDA	27716508
GO:0030674	Function	Protein-macromolecule adaptor activity	IMP	19520058
GO:0030948	Process	Negative regulation of vascular endothelial growth factor receptor signaling pathway	IDA	21893193
GO:0031410	Component	Cytoplasmic vesicle	IDA	21122810
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	27716508
GO:0032007	Process	Negative regulation of TOR signaling	IDA	21893193
GO:0034605	Process	Cellular response to heat	IDA	21122810
GO:0036324	Process	Vascular endothelial growth factor receptor-2 signaling pathway	IDA	21893193
GO:0042802	Function	Identical protein binding	IPI	16189514, 18940611, 21988832, 25416956
GO:0042803	Function	Protein homodimerization activity	IDA	25667979
GO:0043280	Process	Positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	16132846
GO:0043495	Function	Protein-membrane adaptor activity	IMP	16957052
GO:0045766	Process	Positive regulation of angiogenesis	IDA	21893193
GO:0046983	Function	Protein dimerization activity	IPI	11883899
GO:0048208	Process	COPII vesicle coating	IMP	27716508
GO:0048306	Function	Calcium-dependent protein binding	IPI	16957052, 17196169, 17214967, 18256029, 23924735, 27716508
GO:0051592	Process	Response to calcium ion	ISS
GO:0051898	Process	Negative regulation of protein kinase B signaling	IDA	21893193
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0070971	Component	Endoplasmic reticulum exit site	IDA	27813252
GO:0070971	Component	Endoplasmic reticulum exit site	IMP	16957052
GO:0097190	Process	Apoptotic signaling pathway	TAS	8560270
GO:1902527	Process	Positive regulation of protein monoubiquitination	IMP	27716508
GO:1990756	Function	Ubiquitin ligase-substrate adaptor activity	IMP	27716508

Other IDs

• MIM: 601057
• HGNC: 8765
• e!Ensembl: ENSG00000249915

Protein

• UniProt ID: O75340
• Protein name: Programmed cell death protein 6 (Apoptosis-linked gene 2 protein homolog) (ALG-2)
• Protein function: Calcium sensor that plays a key role in processes such as endoplasmic reticulum (ER)-Golgi vesicular transport, endosomal biogenesis or membrane repair. Acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein comple
• PDB: 2ZN8, 2ZN9, 2ZND, 2ZNE, 2ZRS, 2ZRT, 3AAJ, 3AAK, 3WXA, 5GQQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13202	EF-hand_5	30 → 53	EF hand	Domain
  PF13499	EF-hand_7	92 → 156	EF-hand domain pair	Domain

• Sequence:

  MAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGTWTPF
  NPVTVRSIISMFDRENKAGVNFSEFTGVWKYITDWQNVFRTYDRDNSGMIDKNELKQALS
  GFGYRLSDQFHDILIRKFDRQGRGQIAFDDFIQGCIVLQRLTDIFRRYDTDQDGWIQVSY
  EQYLSMVFSIV

• Sequence length: 191

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Endogenous depression		19955554	ClinVar
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Alzheimer disease	Alzheimer disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	18632575
Breast Neoplasms	Associate	35732318
Carcinogenesis	Associate	22161137, 22412903, 37005078
Carcinoma Hepatocellular	Associate	37005078
Carcinoma Non Small Cell Lung	Associate	23167403
Carcinoma Ovarian Epithelial	Associate	22369209
Colorectal Neoplasms	Associate	26678268
COVID 19	Associate	37222960
Death	Associate	24792888
Depressive Disorder	Stimulate	19955554
Esophageal Neoplasms	Associate	31128039
Hearing Loss	Associate	36788145
Leukemia	Associate	29672642
Leukemia Lymphocytic Chronic B Cell	Associate	29672642
Lung Neoplasms	Associate	23167403
Mouth Neoplasms	Associate	35732318
Myelodysplastic Syndromes	Associate	29672642
Neoplasm Metastasis	Associate	37005078
Neoplasms	Inhibit	22161137, 23167403
Neoplasms	Associate	22369209, 24792888, 32901835, 35503998, 37005078
Ovarian Neoplasms	Associate	22369209
Pre Eclampsia	Associate	26028931
Stomach Neoplasms	Associate	18957060, 22161137
Thyroid Nodule	Associate	32901835
Thyroiditis	Associate	32901835
Urinary Bladder Neoplasms	Associate	24792888