Aliases for PIH1D2 Gene

Aliases for PIH1D2 Gene

  • PIH1 Domain Containing 2 2 3 5
  • PIH1 Domain-Containing Protein 2 3 4
  • PIH1D2 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. Diseases associated with PIH1D2 include Pyruvate Dehydrogenase E2 Deficiency and Primary Ciliary Dyskinesia. Gene Ontology (GO) annotations related to this gene include Ral GTPase binding. An important paralog of this gene is DNAAF2.

Additional gene information for PIH1D2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIH1D2 Gene

Genomics for PIH1D2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIH1D2 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 PIH1D2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIH1D2

Top Transcription factor binding sites by QIAGEN in the PIH1D2 gene promoter:
  • AREB6
  • FOXD3
  • ITF-2
  • Nkx3-1 v3
  • Pax-4a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RORalpha1
  • Tal-1beta

Genomic Locations for PIH1D2 Gene

Genomic Locations for PIH1D2 Gene
chr11:112,052,161-112,074,274
(GRCh38/hg38)
Size:
22,114 bases
Orientation:
Minus strand
chr11:111,934,734-111,944,998
(GRCh37/hg19)
Size:
10,265 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
    Miscellaneous:
    • [Isoform 3]: May be due to a competing donor splice site.

    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

Gene Families for PIH1D2 Gene

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

Protein Domains for PIH1D2 Gene

InterPro:
Blocks:
  • Nop17p
ProtoNet:

Suggested Antigen Peptide Sequences for PIH1D2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60158 (B4DU48_HUMAN)
  • PIH1 domain-containing protein 2 (PIHD2_HUMAN)

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIH1D2

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 1
cytoskeleton 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PIH1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0097255 R2TP complex IBA 21873635
GO:1990904 ribonucleoprotein complex IBA 21873635
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

PathCards logo

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 21873635
GO:0006364 rRNA processing IBA 21873635
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

Drugs & Compounds for PIH1D2 Gene

No Compound Related Data Available

Transcripts for PIH1D2 Gene

mRNA/cDNA for PIH1D2 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIH1D2

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

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 and MOPED for PIH1D2 Gene



Protein tissue co-expression partners for PIH1D2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30 31
  • 99.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PIH1D2 30 31
  • 87.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PIH1D2 30 31
  • 87.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pih1d2 30
  • 77.88 (n)
Mouse
(Mus musculus)
Mammalia Pih1d2 30 17 31
  • 77.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PIH1D2 31
  • 64 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PIH1D2 31
  • 44 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PIH1D2 31
  • 38 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PIH1D2 31
  • 42 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101734438 30
  • 55.23 (n)
Zebrafish
(Danio rerio)
Actinopterygii pih1d2 30 31
  • 51.25 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
OneToOne
Species where no ortholog for PIH1D2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PIH1D2: view image

Paralogs for PIH1D2 Gene

Paralogs for PIH1D2 Gene

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

Variants for PIH1D2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIH1D2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
674119 Benign: not provided 112,059,689(-) G/A INTRON_VARIANT
734507 Likely Benign: not provided 112,061,103(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
785773 Likely Benign: not provided 112,060,024(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
838535 Uncertain Significance: Pyruvate dehydrogenase E2 deficiency 112,061,072(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1057521901 Likely Benign: not specified 112,062,389(-) T/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PIH1D2 Gene

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

MalaCards: The human disease database

(2) MalaCards diseases for PIH1D2 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PIH1D2: view

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

Publications for PIH1D2 Gene

  1. The RPAP3-Cterminal domain identifies R2TP-like quaternary chaperones. (PMID: 29844425) Maurizy C … Bertrand E (Nature communications 2018) 2 3
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  4. 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
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3

Products for PIH1D2 Gene

Sources for PIH1D2 Gene