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Aliases for PDCD6IP Gene

Aliases for PDCD6IP Gene

  • Programmed Cell Death 6 Interacting Protein 2 3 5
  • Programmed Cell Death 6-Interacting Protein 2 3
  • ALG-2-Interacting Protein X 3 4
  • PDCD6-Interacting Protein 3 4
  • AIP1 3 4
  • HP95 3 4
  • ALIX 3 4
  • Apoptosis-Linked Gene 2-Interacting Protein X 3
  • Dopamine Receptor Interacting Protein 4 3
  • ALG-2 Interacting Protein X 2
  • ALG-2 Interacting Protein 1 3
  • ALG-2-Interacting Protein 1 4
  • KIAA1375 4
  • DRIP4 3

External Ids for PDCD6IP Gene

Previous GeneCards Identifiers for PDCD6IP Gene

  • GC03P033126
  • GC03P033686
  • GC03P033811
  • GC03P033814
  • GC03P033781

Summaries for PDCD6IP Gene

Entrez Gene Summary for PDCD6IP Gene

  • This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]

GeneCards Summary for PDCD6IP Gene

PDCD6IP (Programmed Cell Death 6 Interacting Protein) is a Protein Coding gene. Diseases associated with PDCD6IP include Adult Neuronal Ceroid Lipofuscinosis. Among its related pathways are Endocytosis and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and SH3 domain binding. An important paralog of this gene is PTPN23.

UniProtKB/Swiss-Prot for PDCD6IP Gene

  • Multifunctional protein involved in endocytosis, multivesicular body biogenesis, membrane repair, cytokinesis, apoptosis and maintenance of tight junction integrity. Class E VPS protein involved in concentration and sorting of cargo proteins of the multivesicular body (MVB) for incorporation into intralumenal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome. Binds to the phospholipid lysobisphosphatidic acid (LBPA) which is abundant in MVBs internal membranes. The MVB pathway requires the sequential function of ESCRT-O, -I,-II and -III complexes (PubMed:14739459). The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:17853893, PubMed:17556548). Adapter for a subset of ESCRT-III proteins, such as CHMP4, to function at distinct membranes. Required for completion of cytokinesis (PubMed:17853893, PubMed:17556548, PubMed:18641129). May play a role in the regulation of both apoptosis and cell proliferation. Regulates exosome biogenesis in concert with SDC1/4 and SDCBP (PubMed:22660413). By interacting with F-actin, PARD3 and TJP1 secures the proper assembly and positioning of actomyosin-tight junction complex at the apical sides of adjacent epithelial cells that defines a spatial membrane domain essential for the maintenance of epithelial cell polarity and barrier (By similarity).

  • (Microbial infection) Involved in HIV-1 virus budding. Can replace TSG101 it its role of supporting HIV-1 release; this function requires the interaction with CHMP4B. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as enveloped virus budding (HIV-1 and other lentiviruses).

Gene Wiki entry for PDCD6IP Gene

Additional gene information for PDCD6IP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDCD6IP Gene

Genomics for PDCD6IP Gene

GeneHancer (GH) Regulatory Elements for PDCD6IP Gene

Promoters and enhancers for PDCD6IP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I033797 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 595.2 +1.0 975 3.7 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 PDCD6IP ENSG00000271020 GC03M033793 LOC105377023 GLB1 TMPPE CLASP2 ENSG00000271324 LOC105377024
GH03I033437 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 44.9 -358.4 -358415 5.5 CLOCK ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC UBP1 PIR40256 CNOT10 PDCD6IP FBXL2 GLB1 TMPPE CMTM6 GC03M033417
GH03I033113 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 25.2 -683.6 -683645 3.1 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CRTAP GC03P033114 CNOT10 PDCD6IP GLB1 UBP1 PIR55934
GH03I032832 Enhancer 1 ENCODE dbSUPER 39 -965.1 -965057 0.7 ZFP64 ZNF140 ZNF266 ZNF384 ZNF697 ZNF664 ZNF791 ZNF213 POLR2A GLI2 CNOT10 UBP1 PDCD6IP FBXL2 TMPPE GLB1 TRIM71 PIR32571 GC03M032797
GH03I033790 Enhancer 1.5 FANTOM5 Ensembl ENCODE 18.3 -7.0 -7031 2.5 PKNOX1 ATF1 ARNT TCF12 ZNF766 CBX5 FOS ATF7 CAVIN1 JUNB PDCD6IP CLASP2 ENSG00000271643 ENSG00000271324 LOC105377023 SDAD1P3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PDCD6IP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDCD6IP gene promoter:

Genomic Locations for PDCD6IP Gene

Genomic Locations for PDCD6IP Gene
chr3:33,798,352-33,869,707
(GRCh38/hg38)
Size:
71,356 bases
Orientation:
Plus strand
chr3:33,839,844-33,911,195
(GRCh37/hg19)

Genomic View for PDCD6IP Gene

Genes around PDCD6IP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDCD6IP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDCD6IP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDCD6IP Gene

Proteins for PDCD6IP Gene

  • Protein details for PDCD6IP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUM4-PDC6I_HUMAN
    Recommended name:
    Programmed cell death 6-interacting protein
    Protein Accession:
    Q8WUM4
    Secondary Accessions:
    • C5MQH7
    • E9PFU1
    • Q6NUS1
    • Q9BX86
    • Q9NUN0
    • Q9P2H2
    • Q9UKL5

    Protein attributes for PDCD6IP Gene

    Size:
    868 amino acids
    Molecular mass:
    96023 Da
    Quaternary structure:
    • Self-associates (PubMed:14505570, PubMed:14519844). Interacts with SH3KBP1/CIN85 (By similarity). Interacts with PDCD6 in a calcium -dependent manner (PubMed:16957052, PubMed:18256029, PubMed:18940611). Interacts with TSG101 in a calcium-dependent manner; PDCD6IP homooligomerization may be required for TSG101-binding (PubMed:14505570, PubMed:14519844, PubMed:18641129, PubMed:19520058, PubMed:17350572). Interacts with SGSM3 (PubMed:15849434). Directly interacts with CHMP4A, CHMP4B and CHMP4C (PubMed:12860994, PubMed:14505569, PubMed:14505570, PubMed:14519844, PubMed:14678797, PubMed:14583093, PubMed:17428861, PubMed:17350572, PubMed:18511562). Directly interacts with CEP55 in a 1:2 stoechiometry (PubMed:17853893, PubMed:17556548, PubMed:18641129, PubMed:18948538). The interaction with CEP55 is required for PDCD6IP targeting to the midbody (PubMed:18641129). May interact with PDGFRB (PubMed:20494825). Interacts with SH3GL1 and SH3GL2/endophilin-1 (PubMed:17350572). Forms a complex with SDCBP and SDC2 (PubMed:22660413). Found in a complex with F-actin, TJP1/ZO-1 and PARD3 (By similarity). Interacts with CD2AP (PubMed:17853893). Interacts with ARRDC1 (PubMed:21191027).
    • (Microbial infection) Interacts with HIV-1 p6 (PubMed:14505569, PubMed:17350572, PubMed:17277784, PubMed:18066081). Interacts with HIV-1 p9 (PubMed:18066081). Interacts with EIAV p9 (PubMed:14505569, PubMed:14519844, PubMed:17350572, PubMed:18066081). Interacts with murine leukemia virus Gag polyprotein (via LYPX(n)L motif) (PubMed:15908698).
    SequenceCaution:
    • Sequence=BAA92092.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PDCD6IP Gene

    Alternative splice isoforms for PDCD6IP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDCD6IP Gene

Post-translational modifications for PDCD6IP Gene

  • May be phosphorylated on tyrosine residues by activated PDGFRB.
  • Ubiquitination at isoforms=2, 323, Lys350, isoforms=2501, Lys640, isoforms=2707, and Lys751

No data available for DME Specific Peptides for PDCD6IP Gene

Domains & Families for PDCD6IP Gene

Gene Families for PDCD6IP Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PDCD6IP Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PDCD6IP: view

No data available for UniProtKB/Swiss-Prot for PDCD6IP Gene

Function for PDCD6IP Gene

Molecular function for PDCD6IP Gene

UniProtKB/Swiss-Prot Function:
Multifunctional protein involved in endocytosis, multivesicular body biogenesis, membrane repair, cytokinesis, apoptosis and maintenance of tight junction integrity. Class E VPS protein involved in concentration and sorting of cargo proteins of the multivesicular body (MVB) for incorporation into intralumenal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome. Binds to the phospholipid lysobisphosphatidic acid (LBPA) which is abundant in MVBs internal membranes. The MVB pathway requires the sequential function of ESCRT-O, -I,-II and -III complexes (PubMed:14739459). The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:17853893, PubMed:17556548). Adapter for a subset of ESCRT-III proteins, such as CHMP4, to function at distinct membranes. Required for completion of cytokinesis (PubMed:17853893, PubMed:17556548, PubMed:18641129). May play a role in the regulation of both apoptosis and cell proliferation. Regulates exosome biogenesis in concert with SDC1/4 and SDCBP (PubMed:22660413). By interacting with F-actin, PARD3 and TJP1 secures the proper assembly and positioning of actomyosin-tight junction complex at the apical sides of adjacent epithelial cells that defines a spatial membrane domain essential for the maintenance of epithelial cell polarity and barrier (By similarity).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Involved in HIV-1 virus budding. Can replace TSG101 it its role of supporting HIV-1 release; this function requires the interaction with CHMP4B. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as enveloped virus budding (HIV-1 and other lentiviruses).

Phenotypes From GWAS Catalog for PDCD6IP Gene

Gene Ontology (GO) - Molecular Function for PDCD6IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11883939
GO:0031871 proteinase activated receptor binding IPI 22547407
GO:0042803 protein homodimerization activity IPI 14505570
GO:0046983 protein dimerization activity IEA --
GO:0048306 calcium-dependent protein binding IPI 18256029
genes like me logo Genes that share ontologies with PDCD6IP: view
genes like me logo Genes that share phenotypes with PDCD6IP: view

Animal Models for PDCD6IP Gene

MGI Knock Outs for PDCD6IP:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PDCD6IP Gene

Localization for PDCD6IP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDCD6IP Gene

Cytoplasm, cytosol. Melanosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Secreted, exosome. Cell junction, tight junction. Midbody, Midbody ring. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Colocalized with CEP55 at centrosomes of non-dividing cells. Component of the actomyosin-tight junction complex (By similarity). PDCD6IP targeting to the midbody requires the interaction with CEP55 (PubMed:18641129). {ECO:0000250 UniProtKB:Q9QZA2, ECO:0000250 UniProtKB:Q9WU78, ECO:0000269 PubMed:17081065, ECO:0000269 PubMed:17556548, ECO:0000269 PubMed:17853893, ECO:0000269 PubMed:18641129}.

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 PDCD6IP gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
cytoskeleton 4
endoplasmic reticulum 4
nucleus 2
endosome 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PDCD6IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse IDA 19706535
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PDCD6IP: view

Pathways & Interactions for PDCD6IP Gene

genes like me logo Genes that share pathways with PDCD6IP: view

Pathways by source for PDCD6IP Gene

2 Cell Signaling Technology pathways for PDCD6IP Gene
1 KEGG pathway for PDCD6IP Gene

Gene Ontology (GO) - Biological Process for PDCD6IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IDA 18641129
GO:0000915 actomyosin contractile ring assembly ISS,IEA --
GO:0000920 cell separation after cytokinesis IMP 20616062
GO:0006810 transport IEA --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with PDCD6IP: view

No data available for SIGNOR curated interactions for PDCD6IP Gene

Drugs & Compounds for PDCD6IP Gene

(2) Drugs for PDCD6IP Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with PDCD6IP: view

Transcripts for PDCD6IP Gene

Unigene Clusters for PDCD6IP Gene

Programmed cell death 6 interacting protein:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDCD6IP Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
SP1: -
SP2: - -
SP3: -
SP4: - -
SP5: - -
SP6: -
SP7: - -
SP8: -
SP9:
SP10: - - - -
SP11: -
SP12:
SP13: - - - -

ExUns: 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:

Relevant External Links for PDCD6IP Gene

GeneLoc Exon Structure for
PDCD6IP
ECgene alternative splicing isoforms for
PDCD6IP

Expression for PDCD6IP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDCD6IP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PDCD6IP Gene

This gene is overexpressed in Lymph node (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PDCD6IP Gene



Protein tissue co-expression partners for PDCD6IP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PDCD6IP Gene:

PDCD6IP

SOURCE GeneReport for Unigene cluster for PDCD6IP Gene:

Hs.475896

Evidence on tissue expression from TISSUES for PDCD6IP Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Lung(3.4)
  • Kidney(2.3)
  • Eye(2.1)
  • Blood(2)
genes like me logo Genes that share expression patterns with PDCD6IP: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDCD6IP Gene

Orthologs for PDCD6IP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDCD6IP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDCD6IP 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia PDCD6IP 33 34
  • 93.7 (n)
cow
(Bos Taurus)
Mammalia PDCD6IP 33 34
  • 91.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PDCD6IP 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdcd6ip 33 16 34
  • 88.28 (n)
rat
(Rattus norvegicus)
Mammalia Pdcd6ip 33
  • 87.89 (n)
oppossum
(Monodelphis domestica)
Mammalia PDCD6IP 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDCD6IP 33 34
  • 78.02 (n)
lizard
(Anolis carolinensis)
Reptilia PDCD6IP 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdcd6ip 33
  • 72.93 (n)
Str.3976 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398095 33
zebrafish
(Danio rerio)
Actinopterygii pdcd6ip 33 34
  • 67.13 (n)
wufb70d03 33
fruit fly
(Drosophila melanogaster)
Insecta ALiX 33 34
  • 50.24 (n)
CG12876 35
  • 43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005531 33
  • 48.3 (n)
worm
(Caenorhabditis elegans)
Secernentea alx-1 33 34
  • 50.7 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER342C 33
  • 43.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIM20 33 34 36
  • 43.62 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07348g 33
  • 43.09 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G15130 33
  • 43.27 (n)
rice
(Oryza sativa)
Liliopsida Os10g0495300 33
  • 43.24 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05876 33
  • 40.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToOne
Species where no ortholog for PDCD6IP was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDCD6IP Gene

ENSEMBL:
Gene Tree for PDCD6IP (if available)
TreeFam:
Gene Tree for PDCD6IP (if available)

Paralogs for PDCD6IP Gene

Paralogs for PDCD6IP Gene

(1) SIMAP similar genes for PDCD6IP Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for PDCD6IP Gene

genes like me logo Genes that share paralogs with PDCD6IP: view

Variants for PDCD6IP Gene

Sequence variations from dbSNP and Humsavar for PDCD6IP Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000038613 -- 33,827,957(+) A/C genic_downstream_transcript_variant, intron_variant
rs1000105852 -- 33,834,466(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000150528 -- 33,835,545(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000204860 -- 33,835,042(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000348510 -- 33,840,251(+) A/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PDCD6IP Gene

Variant ID Type Subtype PubMed ID
nsv979819 CNV duplication 23825009
nsv522881 CNV gain 19592680
nsv3758 CNV insertion 18451855

Variation tolerance for PDCD6IP Gene

Residual Variation Intolerance Score: 42.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.82; 98.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDCD6IP Gene

Human Gene Mutation Database (HGMD)
PDCD6IP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDCD6IP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDCD6IP Gene

Disorders for PDCD6IP Gene

MalaCards: The human disease database

(1) MalaCards diseases for PDCD6IP Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
adult neuronal ceroid lipofuscinosis
  • adult ncl
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PDCD6IP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PDCD6IP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDCD6IP Gene

Publications for PDCD6IP 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 (Biochemical and biophysical research communications 2009) 3 4 22 58
  2. 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 (London, England : 1993) 2008) 3 4 22 58
  3. Differential requirements for Alix and ESCRT-III in cytokinesis and HIV-1 release. (PMID: 18641129) Carlton JG … Martin-Serrano J (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 22 58
  4. ALIX-CHMP4 interactions in the human ESCRT pathway. (PMID: 18511562) McCullough J … Hill CP (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 22 58
  5. 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 (The Journal of biological chemistry 2008) 3 4 22 58

Products for PDCD6IP Gene

Sources for PDCD6IP Gene

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