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Aliases for FRMPD2 Gene

Aliases for FRMPD2 Gene

  • FERM And PDZ Domain Containing 2 2 3 5
  • PDZ Domain-Containing Protein 4 3 4
  • PDZ Domain Containing 5C 2 3
  • PDZD5C 3 4
  • PDZK5C 3 4
  • PDZK4 3 4
  • FERM And PDZ Domain-Containing Protein 2 3
  • PDZ Domain-Containing Protein 5C 4

External Ids for FRMPD2 Gene

Previous HGNC Symbols for FRMPD2 Gene

  • PDZD5C
  • PDZK5C

Previous GeneCards Identifiers for FRMPD2 Gene

  • GC10M048710
  • GC10M049034
  • GC10M049364
  • GC10M043629
  • GC10M048156

Summaries for FRMPD2 Gene

Entrez Gene Summary for FRMPD2 Gene

  • This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]

GeneCards Summary for FRMPD2 Gene

FRMPD2 (FERM And PDZ Domain Containing 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and 1-phosphatidylinositol binding. An important paralog of this gene is PTPN13.

UniProtKB/Swiss-Prot for FRMPD2 Gene

  • May play a role in the regulation of tight junction formation. Binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2).

Additional gene information for FRMPD2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRMPD2 Gene

Genomics for FRMPD2 Gene

GeneHancer (GH) Regulatory Elements for FRMPD2 Gene

Promoters and enhancers for FRMPD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J048274 Promoter/Enhancer 0.8 EPDnew ENCODE 650.7 +0.0 17 0.6 NRF1 FRMPD2 PTPN20CP
GH10J048175 Promoter 0.5 EPDnew 650.2 +99.8 99767 0.1 FRMPD2 PTPN20CP
GH10J048246 Enhancer 0.2 FANTOM5 12.3 +28.4 28446 0.2 FRMPD2 PTPN20CP
GH10J048289 Enhancer 1 Ensembl ENCODE 0.4 -15.3 -15303 1.6 ATF1 SIN3A ZNF2 RAD21 ZSCAN5C ZNF143 ATF7 RUNX3 CREM ZNF654 MAPK8 RPS6P14 FRMPD2
GH10J048287 Enhancer 0.8 ENCODE 0.4 -13.1 -13148 1.6 HDGF NCOA3 PKNOX1 CLOCK ESRRA NFIB SIN3A EBF1 NFXL1 ZFHX2 RPS6P14 FRMPD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRMPD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FRMPD2 gene promoter:
  • PPAR-alpha
  • CRE-BP1
  • ATF-2
  • p300
  • Pbx1a
  • LCR-F1
  • NF-1

Genomic Locations for FRMPD2 Gene

Genomic Locations for FRMPD2 Gene
chr10:48,150,001-48,274,898
(GRCh38/hg38)
Size:
124,898 bases
Orientation:
Minus strand
chr10:49,364,601-49,482,941
(GRCh37/hg19)
Size:
118,341 bases
Orientation:
Minus strand

Genomic View for FRMPD2 Gene

Genes around FRMPD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRMPD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRMPD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRMPD2 Gene

Proteins for FRMPD2 Gene

  • Protein details for FRMPD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68DX3-FRPD2_HUMAN
    Recommended name:
    FERM and PDZ domain-containing protein 2
    Protein Accession:
    Q68DX3
    Secondary Accessions:
    • B7WNW0
    • B7ZML5
    • Q2VY07
    • Q6GMQ9
    • Q6ZN38
    • Q6ZWI2
    • Q8N5T9

    Protein attributes for FRMPD2 Gene

    Size:
    1309 amino acids
    Molecular mass:
    144282 Da
    Quaternary structure:
    • Interacts (via the PDZ 2 domain) with CTNND2 (via the extreme C-terminus). Interacts (via the PDZ 2 domain) with PKP4 (via the extreme C-terminus); this interaction directed FRMPD2 to the basolateral membranes. Interacts (via the PDZ 2 domain) with ARVCF (via the extreme C-terminus).

    Alternative splice isoforms for FRMPD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FRMPD2 Gene

Post-translational modifications for FRMPD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FRMPD2 Gene

Domains & Families for FRMPD2 Gene

Gene Families for FRMPD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for FRMPD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q68DX3

UniProtKB/Swiss-Prot:

FRPD2_HUMAN :
  • The FERM and PDZ 2 domains are necessary for localization to the basolateral cell membrane. The FERM domain binds to phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and is sufficient for membrane localization.
Domain:
  • The FERM and PDZ 2 domains are necessary for localization to the basolateral cell membrane. The FERM domain binds to phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and is sufficient for membrane localization.
genes like me logo Genes that share domains with FRMPD2: view

Function for FRMPD2 Gene

Molecular function for FRMPD2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the regulation of tight junction formation. Binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2).

Phenotypes From GWAS Catalog for FRMPD2 Gene

Gene Ontology (GO) - Molecular Function for FRMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 19706687
GO:0005545 1-phosphatidylinositol binding IDA 19706687
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with FRMPD2: view
genes like me logo Genes that share phenotypes with FRMPD2: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FRMPD2 Gene

Localization for FRMPD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRMPD2 Gene

Cytoplasm. Basolateral cell membrane. Cell junction, tight junction. Note=Colocalizes with CTNNB1, CDH1 and PKP4 at the basolateral membrane. Colocalizes with TJP1 at tight junctions. Its recruitment to cell-cell contacts requires CDH1.

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 FRMPD2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for FRMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0005923 bicellular tight junction IEA,IDA 19706687
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FRMPD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FRMPD2 Gene

Pathways & Interactions for FRMPD2 Gene

SuperPathways for FRMPD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FRMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0070830 bicellular tight junction assembly IMP 19706687
genes like me logo Genes that share ontologies with FRMPD2: view

No data available for Pathways by source and SIGNOR curated interactions for FRMPD2 Gene

Drugs & Compounds for FRMPD2 Gene

No Compound Related Data Available

Transcripts for FRMPD2 Gene

mRNA/cDNA for FRMPD2 Gene

Unigene Clusters for FRMPD2 Gene

FERM and PDZ domain containing 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FRMPD2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ·
SP1: - - - -
SP2: - - - -
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 22c ^ 23a · 23b ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b
SP1: - - - - -
SP2:
SP3: - - - -
SP4: - -
SP5: -
SP6:
SP7: -

Relevant External Links for FRMPD2 Gene

GeneLoc Exon Structure for
FRMPD2
ECgene alternative splicing isoforms for
FRMPD2

Expression for FRMPD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FRMPD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FRMPD2 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x5.4), Brain - Anterior cingulate cortex (BA24) (x5.3), Brain - Cortex (x5.2), and Brain - Frontal Cortex (BA9) (x4.8).

Protein differential expression in normal tissues from HIPED for FRMPD2 Gene

This gene is overexpressed in Monocytes (52.8) and Retina (16.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FRMPD2 Gene



Protein tissue co-expression partners for FRMPD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FRMPD2 Gene:

FRMPD2

SOURCE GeneReport for Unigene cluster for FRMPD2 Gene:

Hs.664786

mRNA Expression by UniProt/SwissProt for FRMPD2 Gene:

Q68DX3-FRPD2_HUMAN
Tissue specificity: Expressed in epithelial cells.

Evidence on tissue expression from TISSUES for FRMPD2 Gene

  • Nervous system(4.5)
  • Eye(4.3)
genes like me logo Genes that share expression patterns with FRMPD2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FRMPD2 Gene

Orthologs for FRMPD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FRMPD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FRMPD2 34 33
  • 99.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FRMPD2 34 33
  • 83.11 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FRMPD2 33
  • 82.34 (n)
rat
(Rattus norvegicus)
Mammalia RGD1565652 33
  • 79.69 (n)
mouse
(Mus musculus)
Mammalia Gm626 33
  • 79.64 (n)
Frmpd2 16
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 71 (a)
OneToMany
-- 34
  • 52 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 69 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
-- 34
  • 39 (a)
OneToMany
-- 34
  • 3 (a)
OneToMany
chicken
(Gallus gallus)
Aves FRMPD2 34
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii FRMPD2 (1 of 2) 34
  • 37 (a)
OneToMany
ptpn20 34
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-5.2 34
  • 17 (a)
ManyToMany
frm-5.1 34
  • 15 (a)
ManyToMany
Species where no ortholog for FRMPD2 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)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for FRMPD2 Gene

ENSEMBL:
Gene Tree for FRMPD2 (if available)
TreeFam:
Gene Tree for FRMPD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FRMPD2: view image

Paralogs for FRMPD2 Gene

Paralogs for FRMPD2 Gene

(14) SIMAP similar genes for FRMPD2 Gene using alignment to 3 proteins:

  • FRPD2_HUMAN
  • D3DX87_HUMAN
  • F8WCT2_HUMAN

Pseudogenes.org Pseudogenes for FRMPD2 Gene

genes like me logo Genes that share paralogs with FRMPD2: view

Variants for FRMPD2 Gene

Sequence variations from dbSNP and Humsavar for FRMPD2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs115907611 A colorectal cancer sample 48,187,279(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, genic_upstream_transcript_variant, missense_variant
rs1000010349 -- 48,189,409(-) G/A genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000021197 -- 48,218,438(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000053387 -- 48,224,847(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000076901 -- 48,231,494(-) T/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FRMPD2 Gene

Variant ID Type Subtype PubMed ID
dgv125e214 CNV gain 21293372
esv1001778 CNV deletion 20482838
esv24863 CNV gain+loss 19812545
esv3623151 CNV loss 21293372
nsv1042677 CNV loss 25217958
nsv467190 CNV gain 19166990
nsv550811 CNV gain 21841781
nsv6565 CNV insertion 18451855
nsv6576 CNV insertion 18451855
nsv820931 CNV deletion 20802225
nsv831864 CNV gain 17160897
nsv8639 CNV loss 18304495
nsv947975 CNV duplication 23825009
nsv950951 CNV deletion 24416366

Variation tolerance for FRMPD2 Gene

Residual Variation Intolerance Score: 32.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.54; 85.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRMPD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRMPD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRMPD2 Gene

Disorders for FRMPD2 Gene

Additional Disease Information for FRMPD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FRMPD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRMPD2 Gene

Publications for FRMPD2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells. (PMID: 19706687) Stenzel N … Erdmann KS (Journal of cell science 2009) 3 4 58
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for FRMPD2 Gene

Sources for FRMPD2 Gene

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