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Aliases for PIH1D2 Gene

Aliases for PIH1D2 Gene

  • PIH1 Domain Containing 2 2 3 5

External Ids for PIH1D2 Gene

Previous GeneCards Identifiers for PIH1D2 Gene

  • GC11M111444
  • GC11M111935
  • GC11M107858

Summaries for PIH1D2 Gene

GeneCards Summary for PIH1D2 Gene

PIH1D2 (PIH1 Domain Containing 2) is a Protein Coding gene. GO annotations related to this gene include Ral GTPase binding.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIH1D2 Gene

Genomics for PIH1D2 Gene

Regulatory Elements for PIH1D2 Gene

Enhancers for PIH1D2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PIH1D2 on UCSC Golden Path with GeneCards custom track

Promoters for PIH1D2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIH1D2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PIH1D2 Gene

Chromosome:
11
Start:
112,052,409 bp from pter
End:
112,074,274 bp from pter
Size:
21,866 bases
Orientation:
Minus strand

Genomic View for PIH1D2 Gene

Genes around PIH1D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIH1D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIH1D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIH1D2 Gene

Proteins for PIH1D2 Gene

  • Protein details for PIH1D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWB5-PIHD2_HUMAN
    Recommended name:
    PIH1 domain-containing protein 2
    Protein Accession:
    Q8WWB5
    Secondary Accessions:
    • B4DU48
    • E9PD82

    Protein attributes for PIH1D2 Gene

    Size:
    315 amino acids
    Molecular mass:
    35957 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PIH1D2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIH1D2 Gene

Proteomics data for PIH1D2 Gene at MOPED

Post-translational modifications for PIH1D2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PIH1D2 Gene

Domains & Families for PIH1D2 Gene

Protein Domains for PIH1D2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PIH1D2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WWB5

UniProtKB/Swiss-Prot:

PIHD2_HUMAN :
  • Belongs to the PIH1 family.
Family:
  • Belongs to the PIH1 family.
genes like me logo Genes that share domains with PIH1D2: view

No data available for Gene Families for PIH1D2 Gene

Function for PIH1D2 Gene

Gene Ontology (GO) - Molecular Function for PIH1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017160 Ral GTPase binding IPI 24056301
genes like me logo Genes that share ontologies with PIH1D2: view

Phenotypes for PIH1D2 Gene

GenomeRNAi human phenotypes for PIH1D2:
genes like me logo Genes that share phenotypes with PIH1D2: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PIH1D2 Gene

Localization for PIH1D2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIH1D2 Gene COMPARTMENTS Subcellular localization image for PIH1D2 gene
Compartment Confidence
cytosol 3
nucleus 3
plasma membrane 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PIH1D2 Gene

Pathways & Interactions for PIH1D2 Gene

SuperPathways for PIH1D2 Gene

No Data Available

Interacting Proteins for PIH1D2 Gene

Gene Ontology (GO) - Biological Process for PIH1D2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PIH1D2 Gene

Drugs & Compounds for PIH1D2 Gene

No Compound Related Data Available

Transcripts for PIH1D2 Gene

Unigene Clusters for PIH1D2 Gene

PIH1 domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PIH1D2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7
SP1:
SP2: -
SP3:
SP4: -

Relevant External Links for PIH1D2 Gene

GeneLoc Exon Structure for
PIH1D2
ECgene alternative splicing isoforms for
PIH1D2

Expression for PIH1D2 Gene

mRNA expression in normal human tissues for PIH1D2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PIH1D2 Gene

This gene is overexpressed in Testis (x18.6).

Protein differential expression in normal tissues from HIPED for PIH1D2 Gene

This gene is overexpressed in Testis (67.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PIH1D2 Gene



SOURCE GeneReport for Unigene cluster for PIH1D2 Gene Hs.420662

genes like me logo Genes that share expression patterns with PIH1D2: view

Protein tissue co-expression partners for PIH1D2 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PIH1D2 Gene

Orthologs for PIH1D2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PIH1D2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIH1D2 35
  • 87.3 (n)
  • 83.17 (a)
PIH1D2 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIH1D2 35
  • 87.22 (n)
  • 83.71 (a)
PIH1D2 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pih1d2 35
  • 77.46 (n)
  • 72.38 (a)
Pih1d2 16
Pih1d2 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIH1D2 35
  • 99.79 (n)
  • 99.68 (a)
PIH1D2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pih1d2 35
  • 77.88 (n)
  • 72.06 (a)
oppossum
(Monodelphis domestica)
Mammalia PIH1D2 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIH1D2 36
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIH1D2 36
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIH1D2 36
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734438 35
  • 55.23 (n)
  • 48.04 (a)
zebrafish
(Danio rerio)
Actinopterygii pih1d2 35
  • 51.25 (n)
  • 41.04 (a)
pih1d2 36
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToOne
Species with no ortholog for PIH1D2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PIH1D2 Gene

ENSEMBL:
Gene Tree for PIH1D2 (if available)
TreeFam:
Gene Tree for PIH1D2 (if available)

Paralogs for PIH1D2 Gene

No data available for Paralogs for PIH1D2 Gene

Variants for PIH1D2 Gene

Sequence variations from dbSNP and Humsavar for PIH1D2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1425917 - 112,071,235(+) CTGCT(A/G)CATGA nc-transcript-variant, reference, missense
rs518795 -- 112,067,324(-) AAAAA(C/T)TATTG intron-variant, downstream-variant-500B
rs551945 -- 112,065,996(-) ttttt(G/T)gacag intron-variant
rs677699 -- 112,070,430(+) ATTCA(A/G)CTTAC intron-variant, reference, synonymous-codon
rs1298174 -- 112,067,657(-) gagac(G/T)gagtt intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for PIH1D2 Gene

Variant ID Type Subtype PubMed ID
esv2745077 CNV Deletion 23290073

Variation tolerance for PIH1D2 Gene

Residual Variation Intolerance Score: 54.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.15; 61.56% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PIH1D2 Gene

Disorders for PIH1D2 Gene

Relevant External Links for PIH1D2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIH1D2

No disorders were found for PIH1D2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PIH1D2 Gene

Publications for PIH1D2 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 67
  2. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. The deubiquitylase USP33 discriminates between RALB functions in autophagy and innate immune response. (PMID: 24056301) Simicek M. … Sablina A.A. (Nat. Cell Biol. 2013) 3
  5. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H. … Vidal M. (Nat. Methods 2011) 3

Products for PIH1D2 Gene

Sources for PIH1D2 Gene

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