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PIH1D2 Gene

protein-coding GIFtS: 42
GCID: GC11M111935

PIH1 Domain Containing 2

See related diseases
at

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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. Diseases associated with PIH1D2 include intrahepatic cholangiocarcinoma, and cholangiocarcinoma.

(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:

NC_000011.10 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 plasmid: PIH1D2 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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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(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

PIH1D2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:

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In Situ Assay
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(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:

Compartment	Confidence
cytosol	2
nucleus	2
plasma membrane	2

About this image

(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)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NOP58	ENSP00000264279⁴	STRING: ENSP00000264279
NOLC1	ENSP00000359024⁴	STRING: ENSP00000359024
C7orf50	ENSP00000350011⁴	STRING: ENSP00000350011
FA2H	ENSP00000219368⁴	STRING: ENSP00000219368
EXOSC10	ENSP00000366135⁴	STRING: ENSP00000366135

About this table

(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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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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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

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
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(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	Pih1d2^{1 , 5}	PIH1 domain containing 2^{1, 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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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs146243231^1,2		--	111801503(+)	`GACTTA/TTTCAA`	1	--	int¹		0	--	--	--	--
rs191612322^1,2		--	111935508(+)	`AAATCA/TTCATC`	1	--	int¹		0	--	--	--	--
rs34700916^1,2	C	--	111935566(+)	`CCAAA-/TTTTTT`	1	--	int¹		0	--	--	--	--
rs11412850^1,2	C	--	111935567(+)	`TTTTTT/-GAGAT`	1	--	int¹		1		NA	2
rs180787780^1,2		--	111935605(+)	`TGTCGC/TCCAGG`	1	--	int¹		0	--	--	--	--
rs186143903^1,2		--	111935721(+)	`CACCAC/TGCCCA`	1	--	int¹		0	--	--	--	--
rs140686705^1,2		--	111935853(+)	`CACCAC/TGCCCA`	1	--	int¹		0	--	--	--	--
rs45539731^1,2	C,F	--	111935866(+)	`CTCCAA/GATTTC`	1	--	int¹		1		NS	38
rs183375895^1,2		--	111936046(+)	`GTAAAC/TTTTAC`	1	--	int¹		0	--	--	--	--
rs187379982^1,2		--	111936070(+)	`TTAGGC/TCTTGA`	1	--	int¹		0	--	--	--	--

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

Structural Variations
Database of Genomic Variants (DGV) 1 variation for PIH1D2: About this table

Variant ID	Type	Subtype	PubMed ID
esv2745077	CNV	Deletion	23290073

Site Specific Mutation Identification with PCR Assays

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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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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2 diseases for PIH1D2:
About MalaCards

intrahepatic cholangiocarcinoma cholangiocarcinoma

PIH1D2 for disorders About GeneDecksing

Export disorders for PIH1D2 gene to outside databases

(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

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)
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)
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)
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)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (Genome Res. 1996)
(PubMed id )²

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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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Name	Description
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.)

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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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, 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

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Hot genes Disease genes PIH1D2 gene at Home site.

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PIH1D2 Gene

PIH1 Domain Containing 2

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PIH1D2 Gene

PIH1 Domain Containing 2

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PIH1D2 Human Recombinant Protein Products:

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for PIH1D2 gene

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for PIH1D2 gene

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for PIH1D2 gene

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for PIH1D2 gene

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for PIH1D2 gene

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for PIH1D2 gene

Expression
for PIH1D2 gene

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for PIH1D2 gene

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for PIH1D2 gene

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for PIH1D2 gene

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for PIH1D2 gene

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for PIH1D2 gene

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for PIH1D2 gene