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FRMPD2P1 Gene

pseudogene   GIFtS: 23
GCID: GC10M048849

FERM And PDZ Domain Containing 2 Pseudogene 1

(Previous names: PDZ domain containing 5A, FERM and PDZ domain containing...)
(Previous symbols: PDZK5A, PDZD5A, FRMPD2L1)
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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
FERM And PDZ Domain Containing 2 Pseudogene 11 2     yX59F3.22
FRMPD2L11 2 3     FRMPD2L23
PDZD5A1 2 3     PDZD5B3
PDZK5A1 2 3     PDZK5B3
FERM And PDZ Domain Containing 2 Like 11     FERM And PDZ Domain-Containing Protein 2 Pseudogene 13
PDZ Domain Containing 5A1     PDZ Domain-Containing Protein 5A3

External Ids:    HGNC: 168431   Entrez Gene: 7287982   Ensembl: ENSG000001977047   UniProtKB: Q6IN973   

Export aliases for FRMPD2P1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FRMPD2P1 Gene:
This gene represents a pseudogene of the FERM and PDZ domain containing 2 gene. Together with another related
pseudogene, all three loci are located in a region of segmental duplication on chromosome 10q. This gene is
located between the most centromerically proximal and distal copies. (provided by RefSeq, Dec 2009)

GeneCards Summary for FRMPD2P1 Gene:
FRMPD2P1 (FERM and PDZ domain containing 2 pseudogene 1) is a pseudogene.




(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for FRMPD2P1
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FRMPD2P1


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

Entrez Gene cytogenetic band: 10q11.22   Ensembl cytogenetic band:  10q11.22   HGNC cytogenetic band: 10q11.22

FRMPD2P1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRMPD2P1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M048849:  view genomic region     (about GC identifiers)

Start:
48,844,036 bp from pter      End:
48,868,504 bp from pter
Size:
24,469 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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FRP2L_HUMAN, Q6IN97 (See protein sequence)
Recommended Name: Putative protein FRMPD2-like  
Size: 320 amino acids; 35161 Da
Caution: Could be the product of a pseudogene. This is the product of related genes or pseudogenes located in a
region of chromosome 10q which contains a segmental duplication resulting in three nearly identical regions
Secondary accessions: B2RPG2 Q5RJ30

Explore the universe of human proteins at neXtProt for FRMPD2P1: NX_Q6IN97

Explore proteomics data for FRMPD2P1 at MOPED


See FRMPD2P1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


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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:
 IPR001478 PDZ

Graphical View of Domain Structure for InterPro Entry Q6IN97

ProtoNet protein and cluster: Q6IN97

1 Blocks protein domain: IPB001478 PDZ/DHR/GLGF domain

UniProtKB/Swiss-Prot: FRP2L_HUMAN, Q6IN97
Similarity: Contains 2 PDZ (DHR) domains


Find genes that share domains with FRMPD2P1           About GenesLikeMe


(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, 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:
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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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  --

(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 FRMPD2P1
Interactions:

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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 Tocris compounds for FRMPD2P1 (FRP2L)



(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 FRMPD2P1 gene (2 alternative transcripts): 
NM_001042524.1  NM_001042525.1  

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000430359 ENST00000431703(uc001jfy.4)
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GeneLoc Exon Structure


(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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FRMPD2P1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
FRMPD2P1 Expression
About this image

FRMPD2P1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FRMPD2P1 Protein Expression
    Custom PCR Arrays for FRMPD2P1
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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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  --

ENSEMBL Gene Tree for FRMPD2P1 (if available)
TreeFam Gene Tree for FRMPD2P1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for FRMPD2P1 gene
3 SIMAP similar genes for FRMPD2P1 using alignment to 1 protein entry:     FRP2L_HUMAN:
FRMPD2    FRMPD2L2    PTPN13

Find genes that share paralogs with FRMPD2P1           About GenesLikeMe



(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 FRMPD2P1 (see all 24)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 10 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2018623891,2
--48849269(+) GATCA-/TTTTTA 1 -- int10--------
rs1903875041,2
--48849282(+) TTGAAC/GAGGCT 1 -- int10--------
rs1995245431,2
C--48853103(+) CTTCCC/TGAGAG 1 -- int10--------
rs1811596921,2
--48855254(+) TTTTTA/TGATGT 1 -- int10--------
rs1857943141,2
--48855255(+) TTTTTG/TATGTG 1 -- int10--------
rs750228121,2
C,F--48855494(+) GAACCG/AATTCC 1 -- int11Minor allele frequency- A:0.50NA 4
rs1491415181,2
--48855586(+) CTGTTC/TTATTT 1 -- int10--------
rs1809150571,2
--48855588(+) GTTCTA/GTTTCT 1 -- int10--------
rs1854746071,2
C--48855612(+) TAATAC/TATGTG 1 -- int10--------
rs2007108731,2
F--48858642(+) CTGCAC/TGAAAC 1 -- nc-transcript-variant1Minor allele frequency- T:0.01EU 741

HapMap Linkage Disequilibrium report for FRMPD2P1 (48844036 - 48868504 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for FRMPD2P1 (see all 27):    About this table    
Variant IDTypeSubtypePubMed ID
nsv820931CNV Deletion20802225
nsv820767CNV Deletion20802225
dgv136e199CNV Deletion23128226
nsv436102CNV Deletion17901297
esv2736163CNV Deletion23290073
nsv6565CNV Insertion18451855
nsv895348CNV Loss21882294
nsv895365CNV Loss21882294
nsv433259CNV Loss18776910
nsv895344CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
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(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 FRMPD2P1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with FRMPD2P1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (Nature 2004)
  2. 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)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(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: 728798 HGNC: 16843 Ensembl:ENSG00000197704 euGenes: HUgn728798 ECgene: FRMPD2P1
H-InvDB: FRMPD2P1

(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 FRMPD2P1 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 FRMPD2P1 gene:
Search GeneIP for patents involving FRMPD2P1

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, 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 inGenious Targeting Laboratory, genOway)
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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes      Disease genes      FRMPD2P1 gene at Home site.
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