Free for academic non-profit institutions. Other users need a Commercial license

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 , 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

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
GH11G111934 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +134.2 134210 11.8 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 PPP2R1B SDHD C11orf52 HSPB2-C11orf52 HSPB2 TIMM8B FDXACB1 C11orf1 ALG9 C11orf57
GH11G112289 1.5 Ensembl ENCODE dbSUPER 9.3 -217.8 -217769 4.8 ATF1 ARNT CREB3L1 SIN3A FEZF1 GLIS2 GATA2 ZNF143 ZNF207 KLF7 LOC283140 RNU6-44P TEX12 C11orf57 PIH1D2 BCO2 GC11M112270 GC11P112339
GH11G111764 1.3 ENCODE dbSUPER 10.7 +308.3 308259 3.3 FOXA2 ZNF493 ARID4B SIN3A ZNF48 YY1 ZNF121 GLIS2 ZNF202 SP3 SIK2 PPP2R1B ENSG00000255334 ALG9 PIH1D2 LAYN BTG4 C11orf88 MIR34B MIR34C
GH11G112023 1.1 ENCODE 11.3 +49.1 49148 2.5 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 PPP2R1B PIH1D2 C11orf57 DIXDC1 CRYAB C11orf52 DLAT GC11M112030
GH11G112016 1.1 Ensembl ENCODE 11.1 +57.2 57162 2.0 PKNOX1 FOXA2 ATF1 RAD21 RARA KAT2B GATA4 GATA2 CBX5 FOS C11orf57 PIH1D2 TIMM8B SDHD C11orf1 FDXACB1 ALG9 GC11M112018 ENSG00000255334
- 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
ENSR00000044954 -126 1601 PKNOX1 CREB3L1 ARNT 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

CRISPR Products

Inhibitory RNA 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

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:

CRISPR Products

Inhibitory RNA 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

Primer Products

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 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
rs534753 Likely benign 112,062,631(-) AACTG(G/T)TTAAA intron-variant, utr-variant-3-prime
rs73568056 Likely benign 112,063,408(+) AATGC(C/T)ATCAA intron-variant, utr-variant-3-prime
rs75608010 Likely benign 112,063,644(+) AGCAT(C/T)GTCTC intron-variant, utr-variant-3-prime
rs116895022 Uncertain significance 112,063,455(+) GTAAA(A/G)TATTG intron-variant, utr-variant-3-prime

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

Content
Loading form....