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PIH1D2 Gene

protein-coding   GIFtS: 42
GCID: GC11M111935

PIH1 Domain Containing 2

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PIH1D2 Gene:
PIH1D2 (PIH1 domain containing 2) is a protein-coding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_033899.9  NC_018922.2  
Regulatory elements:
   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 plasmidPIH1D2 promoter sequence
   Search Chromatin IP Primers for PIH1D2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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


See PIH1D2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

ENSEMBL proteins: 
 ENSP00000434275   ENSP00000431841   ENSP00000431336   ENSP00000431147   ENSP00000433297  
 ENSP00000388209   ENSP00000280350  

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antibodies-online peptides for PIH1D2

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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


Find genes that share domains with PIH1D2           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for PIH1D2

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIH1D2


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
plasma membrane2

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PIH1D2
Interactions:

    Search GeneGlobe Interaction Network for PIH1D2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for PIH1D2 (ENSP000002803504) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
InteractantInteraction Details
GeneCardExternal ID(s)
NOP58ENSP000002642794STRING: ENSP00000264279
NOLC1ENSP000003590244STRING: ENSP00000359024
C7orf50ENSP000003500114STRING: ENSP00000350011
FA2HENSP000002193684STRING: ENSP00000219368
EXOSC10ENSP000003661354STRING: ENSP00000366135
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for PIH1D2 (PIHD2)



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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)

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  QuantiFast Probe-based Assays in human, mouse, rat PIH1D2

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 

Selected AceView cDNA sequences (see all 45):

AW189785 BE501234 AW612413 BQ007474 BC019238 BF515439 CB159963 CR622263 
AA813810 BX345855 AW615267 NM_138789 BI825387 AI744716 AI018473 AI339257 
BG150329 CA312666 BX345856 AI632274 BI520866 BI520093 BI771265 BX097563 

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

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PIH1D2 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 2) fully expand
 
 Bone (Muscoskeletal System)
         Zeugopod Growth Plate
 
 Testis (Reproductive System)
PIH1D2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

PIH1D2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.420662
    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 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)
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This gene was present in the common ancestor of chordates.

Orthologs for PIH1D2 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Pih1d21 , 5 PIH1 domain containing 21, 5 77.46(n)1
72.38(a)1
  9 (27.75 cM)5
726141  NM_028300.21  NP_082576.11 
 506173215 
chicken
(Gallus gallus)
Aves PIH1D26
PIH1 domain containing 2
38(a)
1 ↔ 1
24(6176797-6179439) ENSGALG00000007885
lizard
(Anolis carolinensis)
Reptilia PIH1D26
PIH1 domain containing 2
42(a)
1 ↔ 1
GL343973.1(84084-89664)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1017344381 PIH1 domain-containing protein 2-like 55.23(n)
48.04(a)
  101734438  XM_004920556.1  XP_004920613.1 
zebrafish
(Danio rerio)
Actinopterygii pih1d21 PIH1 domain containing 2 51.25(n)
41.04(a)
  494086  NM_001008629.1  NP_001008629.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for PIH1D2 (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

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing PIH1D2
DNA2.0 Custom Variant and Variant Library Synthesis for PIH1D2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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(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)
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PubMed articles for PIH1D2 gene integrated from 10 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. (Proc. Natl. Acad. Sci. U.S.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. (Genomics 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. (Biochem. Biophys. Res. Commun. 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. (Genome Res. 2004)
  5. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)
  6. (PubMed id )2 

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

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

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for PIH1D2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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