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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. Gene Ontology (GO) annotations related to this gene include Ral GTPase binding.

Additional gene information for PIH1D2 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for PIH1D2 Gene

Promoters and enhancers for PIH1D2 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
GH11I112073 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.0 30 2.3 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B NKAPD1 PIH1D2 ALG9 PPP2R1B NCAM1 SDHD SIK2
GH11I111934 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 +134.2 134209 11.8 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 DIXDC1 PPP2R1B SDHD C11orf52 HSPB2-C11orf52 HSPB2 ENSG00000255292 TIMM8B FDXACB1 C11orf1
GH11I112023 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.3 +49.1 49142 2.5 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 DLAT PPP2R1B FDXACB1 ALG9 PIH1D2 NKAPD1 DIXDC1 IL18 CRYAB C11orf52
GH11I111764 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.7 +308.3 308258 3.3 ZNF493 ARID4B SIN3A ZNF48 YY1 ZNF121 POLR2B GLIS2 RUNX3 ZNF202 PPP2R1B ALG9 NKAPD1 SIK2 ENSG00000255334 PIH1D2 LAYN MIR34B MIR34C C11orf88
GH11I111870 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.6 +203.0 202952 2.2 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 ALG9 PPP2R1B DIXDC1 HSPB2 HSPB2-C11orf52 C11orf52 CRYAB PIH1D2 NKAPD1 ENSG00000258529
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PIH1D2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIH1D2 gene promoter:

Genomic Locations for PIH1D2 Gene

Genomic Locations for PIH1D2 Gene
chr11:112,052,409-112,074,274
(GRCh38/hg38)
Size:
21,866 bases
Orientation:
Minus strand
chr11:111,934,734-111,944,998
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for PIH1D2 Gene

Domains & Families for PIH1D2 Gene

Gene Families for PIH1D2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Function for PIH1D2 Gene

Phenotypes From GWAS Catalog 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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

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

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:

Clone 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 CGAP 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

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.79 (n)
cow
(Bos Taurus)
Mammalia PIH1D2 33 34
  • 87.3 (n)
dog
(Canis familiaris)
Mammalia PIH1D2 33 34
  • 87.22 (n)
rat
(Rattus norvegicus)
Mammalia Pih1d2 33
  • 77.88 (n)
mouse
(Mus musculus)
Mammalia Pih1d2 33 16 34
  • 77.46 (n)
oppossum
(Monodelphis domestica)
Mammalia PIH1D2 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIH1D2 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIH1D2 34
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIH1D2 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734438 33
  • 55.23 (n)
zebrafish
(Danio rerio)
Actinopterygii pih1d2 33 34
  • 51.25 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs116895022 uncertain-significance, Pyruvate dehydrogenase complex deficiency 112,063,455(-) A/G genic_downstream_transcript_variant, intron_variant
rs119103240 pathogenic, Pyruvate dehydrogenase E2 deficiency 112,061,088(-) C/A genic_downstream_transcript_variant, intron_variant
rs139429714 uncertain-significance, Pyruvate dehydrogenase complex deficiency 112,063,157(-) C/A genic_downstream_transcript_variant, intron_variant
rs144371275 uncertain-significance, Pyruvate dehydrogenase complex deficiency 112,063,910(-) T/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs184244244 uncertain-significance, Pyruvate dehydrogenase complex deficiency 112,064,130(-) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  2. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R … Iakoucheva LM (Nature communications 2014) 3 58
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  4. The deubiquitylase USP33 discriminates between RALB functions in autophagy and innate immune response. (PMID: 24056301) Simicek M … Sablina AA (Nature cell biology 2013) 3 58
  5. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H … Vidal M (Nature methods 2011) 3 58

Products for PIH1D2 Gene

Sources for PIH1D2 Gene

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