• Gene id: 10016

Gene Summary

• Gene Symbol: PDCD6   Gene   UCSC   Ensembl
• Aliases: ALG-2, ALG2, PEF1B
• Gene name: programmed cell death 6
• Alternate names: programmed cell death protein 6, apoptosis-linked gene 2 protein, apoptosis-linked gene 2 protein homolog, probable calcium-binding protein ALG-2,
• Gene location: 5p15.33 (271620: 314973)     Exons: 4     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 601057

Protein Summary

• Protein general information: O75340  
  • Name: Programmed cell death protein 6 (Apoptosis linked gene 2 protein homolog) (ALG 2)
  • Length: 191  
  • Mass: 21868
• Sequence:

  MAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGTWTPFNPVTVRSIISMFDRE
  NKAGVNFSEFTGVWKYITDWQNVFRTYDRDNSGMIDKNELKQALSGFGYRLSDQFHDILIRKFDRQGRGQIAFDD
  FIQGCIVLQRLTDIFRRYDTDQDGWIQVSYEQYLSMVFSIV

• Structural information:
  • Protein Domains: (23..5-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (59..8-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (90..12-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0044-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • PDB: 2ZN8 2ZN9 2ZND 2ZNE 2ZRS 2ZRT 3AAJ 3AAK 3WXA 5GQQ
  • PDBsum: 2ZN8 2ZN9 2ZND 2ZNE 2ZRS 2ZRT 3AAJ 3AAK 3WXA 5GQQ
  • DIP: 33217
  • STRING: ENSP00000264933
• Other Databases: GeneCards:  PDCD6  Malacards:  PDCD6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0034605	cellular response to heat	IDA	biological process
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0030948	negative regulation of vascular endothelial growth factor receptor signaling pathway	IDA	biological process
GO:0010595	positive regulation of endothelial cell migration	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0030127	COPII vesicle coat	IDA	cellular component
GO:0070971	endoplasmic reticulum exit site	IDA	cellular component
GO:0051898	negative regulation of protein kinase B signaling	IDA	biological process
GO:0045766	positive regulation of angiogenesis	IDA	biological process
GO:0036324	vascular endothelial growth factor receptor-2 signaling pathway	IDA	biological process
GO:0032007	negative regulation of TOR signaling	IDA	biological process
GO:0006886	intracellular protein transport	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0001938	positive regulation of endothelial cell proliferation	IDA	biological process
GO:0000287	magnesium ion binding	ISS	molecular function
GO:0014032	neural crest cell development	IMP	biological process
GO:0048208	COPII vesicle coating	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014029	neural crest formation	IMP	biological process
GO:1902527	positive regulation of protein monoubiquitination	IMP	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	biological process
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0046983	protein dimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0097190	apoptotic signaling pathway	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051592	response to calcium ion	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0048306	calcium-dependent protein binding	IEA	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:1990756	ubiquitin ligase-substrate adaptor activity	IMP	molecular function
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0030674	protein-macromolecule adaptor activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051592	response to calcium ion	ISS	biological process
GO:0005509	calcium ion binding	ISS	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0043495	protein-membrane adaptor activity	IMP	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0070971	endoplasmic reticulum exit site	IMP	cellular component
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray