Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PDCD6 Gene

Aliases for PDCD6 Gene

  • Programmed Cell Death 6 2 3 5
  • Apoptosis-Linked Gene 2 Protein Homolog 3 4
  • ALG-2 3 4
  • ALG2 3 4
  • Probable Calcium-Binding Protein ALG-2 3
  • Apoptosis-Linked Gene 2 Protein 3
  • Programmed Cell Death Protein 6 3
  • Apoptosis-Linked Gene-2 2
  • PEF1B 3

External Ids for PDCD6 Gene

Previous GeneCards Identifiers for PDCD6 Gene

  • GC05P000423
  • GC05M000303
  • GC05P000304
  • GC05P000324
  • GC05P000258

Summaries for PDCD6 Gene

Entrez Gene Summary for PDCD6 Gene

  • 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 cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]

GeneCards Summary for PDCD6 Gene

PDCD6 (Programmed Cell Death 6) is a Protein Coding gene. Diseases associated with PDCD6 include Ocular Melanoma. GO annotations related to this gene include calcium ion binding and identical protein binding. An important paralog of this gene is PEF1.

UniProtKB/Swiss-Prot for PDCD6 Gene

  • 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 complexes in response to calcium: calcium-binding triggers exposure of apolar surface, promoting interaction with different sets of proteins thanks to 3 different hydrophobic pockets, leading to translocation to membranes (PubMed:20691033, PubMed:25667979). Involved in ER-Golgi transport by promoting the association between PDCD6IP and TSG101, thereby bridging together the ESCRT-III and ESCRT-I complexes (PubMed:19520058). Together with PEF1, acts as calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in ER-Golgi transport by regulating the size of COPII coats (PubMed:27716508). In response to cytosolic calcium increase, the heterodimer formed with PEF1 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (PubMed:27716508). Involved in the regulation of the distribution and function of MCOLN1 in the endosomal pathway (PubMed:19864416). Promotes localization and polymerization of TFG at endoplasmic reticulum exit site (PubMed:27813252). Required for T-cell receptor-, Fas-, and glucocorticoid-induced apoptosis (By similarity). May mediate Ca(2+)-regulated signals along the death pathway: interaction with DAPK1 can accelerate apoptotic cell death by increasing caspase-3 activity (PubMed:16132846). Its role in apoptosis may however be indirect, as suggested by knockout experiments (By similarity). May inhibit KDR/VEGFR2-dependent angiogenesis; the function involves inhibition of VEGF-induced phosphorylation of the Akt signaling pathway (PubMed:21893193). In case of infection by HIV-1 virus, indirectly inhibits HIV-1 production by affecting viral Gag expression and distribution (PubMed:27784779).

  • Isoform 2: Has a lower Ca(2+) affinity than isoform 1 (By similarity).

Gene Wiki entry for PDCD6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDCD6 Gene

Genomics for PDCD6 Gene

Regulatory Elements for PDCD6 Gene

Enhancers for PDCD6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G000367 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.7 +101.8 101789 13.5 HDGF PKNOX1 ARNT WRNIP1 ZBTB7B GLIS2 ZNF207 FOS ZNF263 JUNB PDCD6 AHRR CEP72 CCDC127 SDHA HRAT5 EXOC3 EXOC3-AS1 GC05M000376
GH05G000342 0.9 ENCODE 20.8 +72.3 72297 2.7 ZNF473 ZSCAN4 SIN3A GLIS2 ZNF207 KLF7 EGR2 ZNF202 ZNF680 GATAD2B PDCD6 AHRR LOC100421419 CCDC127 HRAT5 SDHA ENSG00000250645 GC05M000376
GH05G000424 1.4 FANTOM5 Ensembl dbSUPER 12.4 +153.1 153081 1.0 HDGF TBP ZBTB40 ZNF335 GLIS2 RELB IKZF2 EGR2 CBFB JUNB EXOC3 SLC9A3-AS1 AHRR PDCD6 EXOC3-AS1 ZDHHC11 PIR58727 PIR54496 GC05M000432
GH05G000397 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7.9 +128.4 128376 4.6 HDGF PKNOX1 ARNT FEZF1 ZNF2 ZNF121 GLIS2 ZNF143 FOS ZNF263 PDCD6 CCDC127 HRAT5 EXOC3 LOC100310782 GC05M000376
GH05G000390 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.1 +122.4 122397 6.3 HDGF PKNOX1 GLIS2 ZNF143 FOS DEK ZNF263 JUNB SMARCB1 TBX21 CCDC127 SDHA EXOC3 PDCD6 GC05M000376 LOC100310782
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PDCD6 on UCSC Golden Path with GeneCards custom track

Promoters for PDCD6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000177390 179 2001 CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC

Genomic Location for PDCD6 Gene

Chromosome:
5
Start:
271,621 bp from pter
End:
353,856 bp from pter
Size:
82,236 bases
Orientation:
Plus strand

Genomic View for PDCD6 Gene

Genes around PDCD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDCD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDCD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDCD6 Gene

Proteins for PDCD6 Gene

  • Protein details for PDCD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75340-PDCD6_HUMAN
    Recommended name:
    Programmed cell death protein 6
    Protein Accession:
    O75340
    Secondary Accessions:
    • B2RD16
    • E7ESR3
    • Q2YDC2
    • Q5TZS0

    Protein attributes for PDCD6 Gene

    Size:
    191 amino acids
    Molecular mass:
    21868 Da
    Quaternary structure:
    • Homodimer and heterodimer; heterodimerizes (via the EF-hand 5) with PEF1 (PubMed:11278427, PubMed:11883899, PubMed:27784779). Isoform 1 and isoform 2 self-associate; probably forming homodimers. Interacts with CPNE4 (via VWFA domain) (By similarity). Interacts with PDCD6IP; the interaction is calcium-dependent (PubMed:16957052, PubMed:18256029, PubMed:18940611, PubMed:20691033, PubMed:25667979). Interacts with RBM22 (PubMed:17045351). Interacts with PLSCR4 (PubMed:18256029). Interacts with ANXA7 and TSG101 (PubMed:18256029, PubMed:20691033). Interacts with DAPK1 (PubMed:16132846). Interacts with SEC31A; the interaction is calcium-dependent and promotes monoubiquitination of SEC31A (PubMed:16957052, PubMed:18256029, PubMed:27716508, PubMed:25667979). Interacts with ANXA11 (via N-terminus); the interaction is calcium-dependent (PubMed:11883939, PubMed:18256029, PubMed:18940611). Interacts with PLSCR3 (via N-terminus); the interaction is calcium-dependent (PubMed:18256029). Interacts with MCOLN1; the interaction is calcium-dependent (PubMed:19864416). Interacts with KDR; the interaction is calcium-dependent (PubMed:21893193). Interacts with HEBP2; the interaction is calcium-dependent (PubMed:27784779). Interacts with TFG (PubMed:27813252). Isoform 1: Interacts with SHISA5, leading to stabilize it (PubMed:17889823). Isoform 2: Does not interact with SHISA5 (PubMed:17889823). Isoform 2: Does not interact with PDCD6IP, TSG101, ANXA7 and ANXA11 (PubMed:18256029, PubMed:20691033).

    Three dimensional structures from OCA and Proteopedia for PDCD6 Gene

    Alternative splice isoforms for PDCD6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDCD6 Gene

Post-translational modifications for PDCD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for PDCD6

No data available for DME Specific Peptides for PDCD6 Gene

Domains & Families for PDCD6 Gene

Gene Families for PDCD6 Gene

Protein Domains for PDCD6 Gene

Suggested Antigen Peptide Sequences for PDCD6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75340

UniProtKB/Swiss-Prot:

PDCD6_HUMAN :
  • Interacts with different set of proteins thanks to 3 different hydrophobic pockets (PubMed:20691033, PubMed:25667979). Hydrophobic pockets 1 and 2, which mediate interaction with PDCD6IP, are largely formed by residues from EF-hand 3 (EF3) to 5 (EF5), as well as by Tyr-180 (EF5) of a dimerizing molecule (Pocket 1) and from EF-hand (EF2) to 4 (EF4) (Pocket 2) (PubMed:20691033). Hydrophobic pocket 3, which mediates interaction with SEC31A, is mainly formed by residues from EF-hand 1 (EF1) to 3 (EF3) (PubMed:25667979).
Domain:
  • Interacts with different set of proteins thanks to 3 different hydrophobic pockets (PubMed:20691033, PubMed:25667979). Hydrophobic pockets 1 and 2, which mediate interaction with PDCD6IP, are largely formed by residues from EF-hand 3 (EF3) to 5 (EF5), as well as by Tyr-180 (EF5) of a dimerizing molecule (Pocket 1) and from EF-hand (EF2) to 4 (EF4) (Pocket 2) (PubMed:20691033). Hydrophobic pocket 3, which mediates interaction with SEC31A, is mainly formed by residues from EF-hand 1 (EF1) to 3 (EF3) (PubMed:25667979).
  • EF-hand 1 (EF1) and 3 (EF3) are the high-affinity calcium-binding sites, while EF-hand 5 (EF5) binds calcium with low-affinity (PubMed:18940611, PubMed:20691033). A one-residue insertion in the EF5-binding loop prevents the glutamyl residue at the C-terminal end of the loop from serving as the canonical bidentate calcium ligand (PubMed:18940611, PubMed:20691033). EF5 acts as a high-affinity magnesium-binding domain instead (By similarity). Magnesium, may affect dimerization (By similarity). EF5 may bind either calcium or magnesium depending on the context (By similarity).
genes like me logo Genes that share domains with PDCD6: view

Function for PDCD6 Gene

Molecular function for PDCD6 Gene

GENATLAS Biochemistry:
programmed cell death 6,Ca(2+)-binding protein required for T cell receptor-,Fas-, and glucocorticoid-induced cell death
UniProtKB/Swiss-Prot 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 complexes in response to calcium: calcium-binding triggers exposure of apolar surface, promoting interaction with different sets of proteins thanks to 3 different hydrophobic pockets, leading to translocation to membranes (PubMed:20691033, PubMed:25667979). Involved in ER-Golgi transport by promoting the association between PDCD6IP and TSG101, thereby bridging together the ESCRT-III and ESCRT-I complexes (PubMed:19520058). Together with PEF1, acts as calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in ER-Golgi transport by regulating the size of COPII coats (PubMed:27716508). In response to cytosolic calcium increase, the heterodimer formed with PEF1 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (PubMed:27716508). Involved in the regulation of the distribution and function of MCOLN1 in the endosomal pathway (PubMed:19864416). Promotes localization and polymerization of TFG at endoplasmic reticulum exit site (PubMed:27813252). Required for T-cell receptor-, Fas-, and glucocorticoid-induced apoptosis (By similarity). May mediate Ca(2+)-regulated signals along the death pathway: interaction with DAPK1 can accelerate apoptotic cell death by increasing caspase-3 activity (PubMed:16132846). Its role in apoptosis may however be indirect, as suggested by knockout experiments (By similarity). May inhibit KDR/VEGFR2-dependent angiogenesis; the function involves inhibition of VEGF-induced phosphorylation of the Akt signaling pathway (PubMed:21893193). In case of infection by HIV-1 virus, indirectly inhibits HIV-1 production by affecting viral Gag expression and distribution (PubMed:27784779).
UniProtKB/Swiss-Prot Function:
Isoform 2: Has a lower Ca(2+) affinity than isoform 1 (By similarity).

Gene Ontology (GO) - Molecular Function for PDCD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding ISS --
GO:0004198 calcium-dependent cysteine-type endopeptidase activity IBA --
GO:0005509 calcium ion binding IEA,ISS --
GO:0005515 protein binding IPI 11883939
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with PDCD6: view
genes like me logo Genes that share phenotypes with PDCD6: view

Animal Models for PDCD6 Gene

MGI Knock Outs for PDCD6:

Animal Model Products

CRISPR Products

miRNA for PDCD6 Gene

miRTarBase miRNAs that target PDCD6

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PDCD6 Gene

Localization for PDCD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDCD6 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Cytoplasmic vesicle, COPII-coated vesicle membrane. Cytoplasm. Nucleus. Endosome. Note=Interaction with RBM22 induces relocalization from the cytoplasm to the nucleus (PubMed:17045351). Translocated from the cytoplasm to the nucleus after heat shock cell treatment. Accumulates in cytoplasmic vesicle-like organelles after heat shock treatment, which may represent stress granules (PubMed:21122810). In response to calcium increase, relocates from cytolasm to COPII vesicle coat (PubMed:27716508). Localizes to endoplasmic reticulum exit site (ERES) (PubMed:27813252). {ECO:0000269 PubMed:17045351, ECO:0000269 PubMed:21122810, ECO:0000269 PubMed:27716508, ECO:0000269 PubMed:27813252}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDCD6 gene
Compartment Confidence
extracellular 5
nucleus 5
endoplasmic reticulum 5
endosome 4
cytosol 2
golgi apparatus 2
lysosome 1

Gene Ontology (GO) - Cellular Components for PDCD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IDA,IEA 16957052
GO:0005737 cytoplasm IDA 21122810
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 17196169
genes like me logo Genes that share ontologies with PDCD6: view

Pathways & Interactions for PDCD6 Gene

SuperPathways for PDCD6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PDCD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001938 positive regulation of endothelial cell proliferation IDA 21893193
GO:0006508 proteolysis IEA --
GO:0006886 intracellular protein transport IDA 21122810
GO:0006888 ER to Golgi vesicle-mediated transport IMP 27716508
genes like me logo Genes that share ontologies with PDCD6: view

No data available for Pathways by source and SIGNOR curated interactions for PDCD6 Gene

Drugs & Compounds for PDCD6 Gene

(1) Drugs for PDCD6 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with PDCD6: view

Transcripts for PDCD6 Gene

Unigene Clusters for PDCD6 Gene

Programmed cell death 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDCD6 Gene

No ASD Table

Relevant External Links for PDCD6 Gene

GeneLoc Exon Structure for
PDCD6
ECgene alternative splicing isoforms for
PDCD6

Expression for PDCD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDCD6 Gene

Protein differential expression in normal tissues from HIPED for PDCD6 Gene

This gene is overexpressed in Bone (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PDCD6 Gene



Protein tissue co-expression partners for PDCD6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PDCD6 Gene:

PDCD6

SOURCE GeneReport for Unigene cluster for PDCD6 Gene:

Hs.50823

Evidence on tissue expression from TISSUES for PDCD6 Gene

  • Nervous system(4.9)
  • Intestine(4.3)
  • Liver(4.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with PDCD6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDCD6 Gene

Orthologs for PDCD6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PDCD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDCD6 34 35
  • 99.3 (n)
oppossum
(Monodelphis domestica)
Mammalia PDCD6 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDCD6 34 35
  • 89.77 (n)
cow
(Bos Taurus)
Mammalia PDCD6 34 35
  • 89.24 (n)
mouse
(Mus musculus)
Mammalia Pdcd6 34 16 35
  • 86.74 (n)
rat
(Rattus norvegicus)
Mammalia Pdcd6 34
  • 86.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PDCD6 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDCD6 34 35
  • 79.56 (n)
lizard
(Anolis carolinensis)
Reptilia PDCD6 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdcd6 34
  • 76.19 (n)
Str.6903 34
African clawed frog
(Xenopus laevis)
Amphibia pdcd6-prov 34
zebrafish
(Danio rerio)
Actinopterygii pdcd6 34 35
  • 76.59 (n)
zgc63952 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.606 34
fruit fly
(Drosophila melanogaster)
Insecta CG17661 36
  • 70 (a)
Alg-2 34 35
  • 61.48 (n)
CG17765 36
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea M04F3.4 36 35
  • 59 (a)
CELE_M04F3.4 34
  • 57.03 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR570W 34
  • 40.61 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEF1 35 37
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9645 35
  • 59 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02738 34
  • 53.42 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3171 34
Species where no ortholog for PDCD6 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDCD6 Gene

ENSEMBL:
Gene Tree for PDCD6 (if available)
TreeFam:
Gene Tree for PDCD6 (if available)

Paralogs for PDCD6 Gene

Paralogs for PDCD6 Gene

(6) SIMAP similar genes for PDCD6 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PDCD6: view

Variants for PDCD6 Gene

Sequence variations from dbSNP and Humsavar for PDCD6 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_035459 A breast cancer sample
rs1000043292 -- 308,459(+) TTCCA(C/G)GTTTT intron-variant
rs1000064262 -- 275,557(+) GTAGA(A/G)GTAAA intron-variant
rs1000366368 -- 281,137(+) GGACA(G/T)AAGTA intron-variant
rs1000426191 -- 303,314(+) AAAAC(-/TGTG)TGTCT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PDCD6 Gene

Variant ID Type Subtype PubMed ID
dgv3010n106 CNV deletion 24896259
dgv3182e59 CNV duplication 20981092
esv1175822 CNV insertion 17803354
esv1500777 CNV deletion 17803354
esv2106320 CNV deletion 18987734
esv2295089 CNV deletion 18987734
esv2369327 CNV deletion 18987734
esv2502817 CNV insertion 19546169
esv2659039 CNV deletion 23128226
esv2664555 CNV deletion 23128226
esv2752083 CNV gain 17911159
esv2759315 CNV loss 17122850
esv28295 CNV gain 19812545
esv3603739 CNV loss 21293372
esv3603740 CNV loss 21293372
esv3603741 CNV gain 21293372
esv3894107 CNV gain 25118596
esv995455 CNV deletion 20482838
nsv1018482 CNV loss 25217958
nsv1030767 CNV gain 25217958
nsv1126056 CNV deletion 24896259
nsv1133013 OTHER inversion 24896259
nsv1139360 CNV deletion 24896259
nsv1147234 OTHER inversion 26484159
nsv1148167 CNV deletion 26484159
nsv1149431 CNV deletion 26484159
nsv1152239 CNV deletion 26484159
nsv329327 CNV deletion 16902084
nsv428458 CNV loss 18775914
nsv461887 CNV gain 19166990
nsv509041 CNV insertion 20534489
nsv518607 CNV gain 19592680
nsv596614 CNV gain 21841781
nsv980603 CNV duplication 23825009

Variation tolerance for PDCD6 Gene

Residual Variation Intolerance Score: 47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.00; 74.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDCD6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDCD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDCD6 Gene

Disorders for PDCD6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PDCD6 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ocular melanoma
  • eye melanoma
- elite association - COSMIC cancer census association via MalaCards
Search PDCD6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PDCD6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDCD6
genes like me logo Genes that share disorders with PDCD6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDCD6 Gene

Publications for PDCD6 Gene

  1. Penta-EF-hand protein ALG-2 functions as a Ca2+-dependent adaptor that bridges Alix and TSG101. (PMID: 19520058) Okumura M. … Maki M. (Biochem. Biophys. Res. Commun. 2009) 3 4 22 64
  2. Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1. (PMID: 19864416) Vergarajauregui S. … Puertollano R. (J. Biol. Chem. 2009) 3 4 22 64
  3. Identification of Alix-type and non-Alix-type ALG-2-binding sites in human phospholipid scramblase 3: differential binding to an alternatively spliced isoform and amino acid-substituted mutants. (PMID: 18256029) Shibata H. … Maki M. (J. Biol. Chem. 2008) 3 4 22 64
  4. Structural basis for Ca2+ -dependent formation of ALG-2/Alix peptide complex: Ca2+/EF3-driven arginine switch mechanism. (PMID: 18940611) Suzuki H. … Maki M. (Structure 2008) 3 4 22 64
  5. Crystallization and X-ray diffraction analysis of N-terminally truncated human ALG-2. (PMID: 18997320) Suzuki H. … Maki M. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2008) 3 4 22 64

Products for PDCD6 Gene

Sources for PDCD6 Gene

Content
Loading form....