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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PIH1D2 Gene

protein-coding   GIFtS: 42
GCID: GC11M111935

PIH1 Domain Containing 2
  2 related diseases
at
MalaCards
 

Aliases
for PIH1D2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
PIH1 Domain Containing 21 2
PIH1 Domain-Containing Protein 22

External Ids:    HGNC: 252101   Entrez Gene: 1203792   Ensembl: ENSG000001507737   UniProtKB: Q8WWB53   

Export aliases for PIH1D2 gene to outside databases

Previous GC identifers: GC11M111444 GC11M107858


Summaries
for PIH1D2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
GeneCards Summary for PIH1D2 Gene: 
PIH1D2 (PIH1 domain containing 2) is a protein-coding gene. Diseases associated with PIH1D2 include intrahepatic cholangiocarcinoma, and cholangiocarcinoma.


Genomic Views
for PIH1D2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PIH1D2 gene promoter:
         FOXD3   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Tal-1beta   RORalpha1   AREB6   Nkx3-1 v3   Pax-4a   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PIH1D2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PIH1D2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PIH1D2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23.1   Ensembl cytogenetic band:  11q23.1   HGNC cytogenetic band: 11q23.1

PIH1D2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIH1D2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M111935:  view genomic region     (about GC identifiers)

Start:
 111,934,734 bp from pter      End:
 111,944,998 bp from pter
Size:
 10,265 bases      Orientation:
 minus strand

Proteins
for PIH1D2 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: PIHD2_HUMAN, Q8WWB5 (See protein sequence)
Recommended Name: PIH1 domain-containing protein 2  
Size: 315 amino acids; 35957 Da

Explore the universe of human proteins at neXtProt for PIH1D2: NX_Q8WWB5

Explore proteomics data for PIH1D2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WWB5

    • PIH1D2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PIH1D2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001076088.1  NP_620144.1  

    ENSEMBL proteins: 
     ENSP00000434275   ENSP00000431841   ENSP00000431336   ENSP00000431147   ENSP00000433297  
     ENSP00000388209   ENSP00000280350  

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    Protein Domains /
    Families
    for PIH1D2 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 1 InterPro protein domain:
     IPR012981 PIH

    Graphical View of Domain Structure for InterPro Entry Q8WWB5

    ProtoNet protein and cluster: Q8WWB5

    1 Blocks protein domain: IPB012981 Nop17p

    UniProtKB/Swiss-Prot: PIHD2_HUMAN, Q8WWB5
    Similarity: Belongs to the PIH1 family


    PIH1D2 for domains           About GeneDecksing


    Function
    for PIH1D2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Animal Models:
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    miRNA
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for PIH1D2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PIH1D2

    Drugs & Compounds
    for PIH1D2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PIH1D2 (PIHD2)

    Search CenterWatch for drugs/clinical trials and news about PIH1D2 / PIHD2

    Transcripts
    for PIH1D2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PIH1D2 gene (2 alternative transcripts): 
    NM_001082619.1  NM_138789.3  

    Unigene Cluster for PIH1D2:

    PIH1 domain containing 2
    Hs.420662  [show with all ESTs]
    Unigene Representative Sequence: AK300496
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000528775 ENST00000532211 ENST00000525072 ENST00000530641(uc010rws.1)
    ENST00000525744 ENST00000521853 ENST00000431456(uc009yyl.3) ENST00000280350(uc001pmp.4)

    miRNA
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PIH1D2
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    Additional mRNA sequence: 

    AK300496.1 BC019238.2 

    9 DOTS entries:

    DT.409163  DT.86854195  DT.75168175  DT.97836715  DT.100749906  DT.91725308  DT.95378651  DT.100793562 
    DT.120733760 

    24/45 AceView cDNA sequences (see all 45):

    AW615267 BE501234 BI825387 NM_138789 AA813810 AI744716 BF515439 CR622263 
    BC019238 BX345855 AW189785 CB159963 AW612413 BQ007474 BQ429509 AI018473 
    BP369833 BX097563 BI771265 AA187433 BI520546 AI989949 AI339257 CA312666 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PIH1D2    About this scheme

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


    ECgene alternative splicing isoforms for PIH1D2

    Expression
    for PIH1D2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PIH1D2 expression in normal human tissues (normalized intensities)      PIH1D2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAATTAAAG
    PIH1D2 Expression
    About this image


    PIH1D2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate
     
     Testis (Reproductive System)

    See PIH1D2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PIH1D2

    SOURCE GeneReport for Unigene cluster: Hs.420662
        SABiosciences Custom PCR Arrays for PIH1D2
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIH1D2

    Orthologs
    for PIH1D2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for PIH1D2 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Pih1d21 , 5 PIH1 domain containing 21, 5 77.6(n)1
    72.61(a)1    		   9 (27.75 cM)5
    726141  NM_028300.21  NP_082576.11 
     506173215 
    chicken
    (Gallus gallus)    		 Aves PIH1D21 PIH1 domain containing 2 52.77(n)
    42.67(a)    		   419795  XM_417932.3  XP_417932.1 
    lizard
    (Anolis carolinensis)    		 Reptilia PIH1D26
    		 PIH1 domain containing 2
    		 41(a)
    		 1 ↔ 1
    		 GL343973.1(84084-89664)
    zebrafish
    (Danio rerio)    		 Actinopterygii pih1d21 PIH1 domain containing 2 51.42(n)
    41.18(a)    		   494086  NM_001008629.1  NP_001008629.1 


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

    Paralogs
    for PIH1D2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for PIH1D2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/158 SNPs in PIH1D2 are shown (see all 158)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1462432311,2
    		--111801503(+) GACTTA/TTTCAA 1 -- int10--------
    rs1916123221,2
    		--111935508(+) AAATCA/TTCATC 1 -- int10--------
    rs347009161,2
    		C--111935566(+) CCAAA-/TTTTTT 1 -- int10--------
    rs114128501,2
    		C--111935567(+) TTTTTT/-GAGAT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1807877801,2
    		--111935605(+) TGTCGC/TCCAGG 1 -- int10--------
    rs1861439031,2
    		--111935721(+) CACCAC/TGCCCA 1 -- int10--------
    rs1406867051,2
    		--111935853(+) CACCAC/TGCCCA 1 -- int10--------
    rs455397311,2
    		C,F--111935866(+) CTCCAA/GATTTC 1 -- int11Minor allele frequency- G:0.03NS 38
    rs1833758951,2
    		--111936046(+) GTAAAC/TTTTAC 1 -- int10--------
    rs1873799821,2
    		--111936070(+) TTAGGC/TCTTGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for PIH1D2 (111934734 - 111944998 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PIH1D2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2745077CNV Deletion23290073

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    Disorders / Diseases
    for PIH1D2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PIH1D2 for disorders           About GeneDecksing

    2 diseases for PIH1D2:    About MalaCards
    intrahepatic cholangiocarcinoma    cholangiocarcinoma


    Export disorders for PIH1D2 gene to outside databases

    Publications
    for PIH1D2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PIH1D2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with PIH1D2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    2. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    3. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    5. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
    6. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    External Searches for PIH1D2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PIH1D2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 120379 HGNC: 25210 AceView: LOC120379 Ensembl:ENSG00000150773 euGenes: HUgn120379
    ECgene: PIH1D2 H-InvDB: PIH1D2

    Other Databases showing PIH1D2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PIH1D2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PIH1D2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PIH1D2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PIH1D2 gene:
    Search GeneIP for patents involving PIH1D2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for PIH1D2 gene

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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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