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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 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
GH11F111934 1.7 FANTOM5 Ensembl ENCODE 10.4 +134.2 134210 11.8 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 PPP2R1B SDHD C11orf52 HSPB2 HSPB2-C11orf52 ENSG00000255292 TIMM8B FDXACB1 C11orf1 ALG9
GH11F112023 1.1 ENCODE 11.3 +49.1 49148 2.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 PPP2R1B C11orf57 PIH1D2 DIXDC1 RPS6P16 CRYAB C11orf52 DLAT GC11M112030
GH11F112016 1.1 Ensembl ENCODE 11 +57.2 57162 2.0 PKNOX1 ATF1 RAD21 RARA KAT2B CBX5 FOS CREM MIXL1 CBFB PIH1D2 C11orf57 SDHD TIMM8B ENSG00000255292 C11orf1 FDXACB1 ALG9 ENSG00000255334 GC11M112018
GH11F112289 1.2 Ensembl ENCODE 9.3 -217.8 -217769 4.8 ATF1 SIN3A FEZF1 GLIS2 ZNF143 KLF7 KLF13 SP5 MXD4 REST LOC283140 RNU6-44P ENSG00000255292 TEX12 C11orf57 PIH1D2 BCO2 GC11M112270 GC11P112339
GH11F111764 1 ENCODE 10.7 +308.3 308259 3.3 ZNF493 ARID4B SIN3A ZNF48 YY1 ZNF121 GLIS2 ZNF202 SP3 NCOA1 SIK2 PPP2R1B ENSG00000255334 ALG9 RPS6P16 PIH1D2 LAYN BTG4 C11orf88 MIR34B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000568972 -127 2000 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

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

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:0005515 protein binding IPI 25416956
GO:0017160 Ral GTPase binding IPI 24056301
genes like me logo Genes that share ontologies with PIH1D2: view

Phenotypes for PIH1D2 Gene

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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry 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
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 PIH1D2 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for PIH1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0030529 intracellular ribonucleoprotein complex IBA --
GO:0097255 R2TP complex IBA --
genes like me logo Genes that share ontologies with PIH1D2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PIH1D2 Gene

Pathways & Interactions for PIH1D2 Gene

SuperPathways for PIH1D2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PIH1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000492 box C/D snoRNP assembly IBA --
GO:0006364 rRNA processing IBA --
genes like me logo Genes that share ontologies with PIH1D2: view

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

Transcripts for PIH1D2 Gene

Unigene Clusters for PIH1D2 Gene

PIH1 domain containing 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for PIH1D2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PIH1D2 Gene:

PIH1D2

SOURCE GeneReport for Unigene cluster for PIH1D2 Gene:

Hs.420662
genes like me logo Genes that share expression patterns with PIH1D2: view

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
chimpanzee
(Pan troglodytes)
Mammalia PIH1D2 34 35
  • 99.79 (n)
cow
(Bos Taurus)
Mammalia PIH1D2 34 35
  • 87.3 (n)
dog
(Canis familiaris)
Mammalia PIH1D2 34 35
  • 87.22 (n)
rat
(Rattus norvegicus)
Mammalia Pih1d2 34
  • 77.88 (n)
mouse
(Mus musculus)
Mammalia Pih1d2 34 16 35
  • 77.46 (n)
oppossum
(Monodelphis domestica)
Mammalia PIH1D2 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIH1D2 35
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIH1D2 35
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIH1D2 35
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734438 34
  • 55.23 (n)
zebrafish
(Danio rerio)
Actinopterygii pih1d2 34 35
  • 51.25 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToOne
Species where no ortholog for PIH1D2 was found in the sources mined by GeneCards:
  • 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
rs119103240 Pathogenic 112,061,088(+) AATTT(A/C)TCTGC intron-variant, reference, missense
rs1053971 -- 112,062,551(+) AATTT(C/T)TAAAC intron-variant, utr-variant-3-prime
rs10749987 -- 112,072,710(+) AATAC(A/C)AAAAT intron-variant, upstream-variant-2KB
rs10891315 -- 112,062,364(+) GCAGT(A/G)TTTTC intron-variant
rs111491176 -- 112,072,320(+) TAGGA(-/G)GGTTG intron-variant, upstream-variant-2KB

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)

Relevant External Links for PIH1D2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIH1D2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  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 64
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  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 64
  5. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H. … Vidal M. (Nat. Methods 2011) 3 64

Products for PIH1D2 Gene

Sources for PIH1D2 Gene

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