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 ... See more...

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 4
  • AIP1 2 3 4
  • ALG-2-Interacting Protein X 3 4
  • PDCD6-Interacting Protein 3 4
  • ALIX 3 4
  • Hp95 2 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
  • PDCD6IP 5
  • DRIP4 3
  • HP95 3
  • Alix 2

External Ids for PDCD6IP Gene

Previous GeneCards Identifiers for PDCD6IP Gene

  • GC03P033126
  • GC03P033686
  • GC03P033811
  • GC03P033814
  • GC03P033781
  • GC03P033839

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 and Neuronal Ceroid Lipofuscinosis. Among its related pathways are Uptake and actions of bacterial toxins and Adhesion. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and SH3 domain binding.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDCD6IP Gene

Genomics for PDCD6IP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PDCD6IP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDCD6IP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDCD6IP

Top Transcription factor binding sites by QIAGEN in the PDCD6IP gene promoter:
  • AML1a
  • AREB6
  • Arnt
  • Egr-1
  • GATA-1
  • GATA-2
  • GATA-3
  • HOXA5
  • Pax-5
  • SEF-1 (1)

Genomic Locations for PDCD6IP Gene

Latest Assembly
chr3:33,798,571-33,869,707
(GRCh38/hg38)
Size:
71,137 bases
Orientation:
Plus strand

Previous Assembly
chr3:33,840,122-33,911,195
(GRCh37/hg19 by Entrez Gene)
Size:
71,074 bases
Orientation:
Plus strand

chr3:33,839,844-33,911,194
(GRCh37/hg19 by Ensembl)
Size:
71,351 bases
Orientation:
Plus strand

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).
    • (Microbial infection) Interacts with EIAV p9.
    • (Microbial infection) Interacts with Murine leukemia virus Gag polyprotein (via LYPX(n)L motif).
    • (Microbial infection) Interacts with ebola virus protein VP40 (via YPx(n)L/I motif).
    SequenceCaution:
    • Sequence=BAA92092.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 Lys19, Lys23, Lys350, Lys501, Lys640, Lys707, and Lys751
  • Modification sites at PhosphoSitePlus

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:
  • BRO1-like domain

Suggested Antigen Peptide Sequences for PDCD6IP Gene

GenScript: Design optimal peptide antigens:
  • Programmed cell death 6 interacting protein (C5MQH7_HUMAN)
  • Hp95 (PDC6I_HUMAN)
  • Dopamine receptor interacting protein 4 (Q4W4Y1_HUMAN)
  • PDCD6IP protein (Q6NUS1_HUMAN)
genes like me logo Genes that share domains with PDCD6IP: view

No data available for Graphical View of Domain Structure and 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: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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDCD6IP

Clone products for research

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, extracellular 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
extracellular 5
cytosol 5
plasma membrane 4
cytoskeleton 4
endoplasmic reticulum 4
nucleus 3
endosome 3
mitochondrion 2
lysosome 2
golgi apparatus 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

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

SIGNOR curated interactions for PDCD6IP Gene

Is inactivated by:

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 --
GO:0006915 apoptotic process IEA --
GO:0006997 NOT nucleus organization IMP 20616062
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with PDCD6IP: view

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 Nutra 6959
genes like me logo Genes that share compounds with PDCD6IP: view

Transcripts for PDCD6IP Gene

mRNA/cDNA for PDCD6IP Gene

3 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDCD6IP

Clone products for research

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

Expression for PDCD6IP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PDCD6IP Gene



Protein tissue co-expression partners for PDCD6IP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Lung(3.8)
  • Skin(2.7)
  • Kidney(2.7)
  • Blood(2.7)
  • Eye(2.6)
  • Spleen(2.6)
  • Heart(2.6)
  • Lymph node(2.5)
  • Intestine(2.5)
  • Muscle(2.3)
  • Stomach(2.3)
  • Bone marrow(2.3)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with PDCD6IP: view

Primer products for research

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 29 30
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PDCD6IP 29 30
  • 93.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PDCD6IP 29 30
  • 91.87 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PDCD6IP 30
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Pdcd6ip 29 16 30
  • 88.28 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pdcd6ip 29
  • 87.89 (n)
Oppossum
(Monodelphis domestica)
Mammalia PDCD6IP 30
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PDCD6IP 29 30
  • 78.02 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PDCD6IP 30
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pdcd6ip 29
  • 72.93 (n)
Str.3976 29
African clawed frog
(Xenopus laevis)
Amphibia LOC398095 29
Zebrafish
(Danio rerio)
Actinopterygii pdcd6ip 29 30
  • 67.13 (n)
OneToOne
wufb70d03 29
Fruit Fly
(Drosophila melanogaster)
Insecta ALiX 29 30
  • 50.24 (n)
OneToOne
CG12876 31
  • 43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005531 29
  • 48.3 (n)
Worm
(Caenorhabditis elegans)
Secernentea alx-1 29 30
  • 50.7 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER342C 29
  • 43.76 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIM20 29 30 32
  • 43.62 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07348g 29
  • 43.09 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G15130 29
  • 43.27 (n)
Rice
(Oryza sativa)
Liliopsida Os10g0495300 29
  • 43.24 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU05876 29
  • 40.78 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PDCD6IP: view image
Alliance of Genome Resources:
Additional Orthologs for PDCD6IP

Paralogs for PDCD6IP Gene

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

  • PDC6I_HUMAN
  • C5MQH7_HUMAN
  • C9IZF9_HUMAN
  • F8WBR8_HUMAN
  • F8WDK9_HUMAN
  • F8WEQ7_HUMAN

Pseudogenes.org Pseudogenes for PDCD6IP Gene

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

No data available for Paralogs for PDCD6IP Gene

Variants for PDCD6IP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDCD6IP Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs115916654 Benign: not provided 33,865,331(+) G/C
NM_013374.6(PDCD6IP):c.2333G>C (p.Gly778Ala)
MISSENSE
rs28381977 Likely Benign: not provided 33,864,063(+) G/A
NM_013374.6(PDCD6IP):c.2178G>A (p.Ala726=)
SYNONYMOUS
rs58695599 Benign: not provided 33,865,365(+) G/A
NM_013374.6(PDCD6IP):c.2367G>A (p.Thr789=)
SYNONYMOUS
rs74450908 Benign: not provided 33,865,245(+) T/C
NM_013374.6(PDCD6IP):c.2247T>C (p.Pro749=)
SYNONYMOUS
rs76608858 Benign: not provided 33,842,000(+) G/Ap.Gly429Ser
NM_013374.6(PDCD6IP):c.1285G>A (p.Gly429Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PDCD6IP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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
Leiden Open Variation Database (LOVD)
PDCD6IP

SNP Genotyping and Copy Number Assays for research

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

Disorders for PDCD6IP Gene

MalaCards: The human disease database

(2) MalaCards diseases for PDCD6IP Gene - From: GCD

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

Additional Disease Information for PDCD6IP

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  2. 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
  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
  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 (London, England : 1993) 2008) 3 4 22
  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

Products for PDCD6IP Gene

Sources for PDCD6IP Gene