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Aliases for FRMPD2 Gene

Aliases for FRMPD2 Gene

  • FERM And PDZ Domain Containing 2 2 3
  • 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

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. GO annotations related to this gene include 1-phosphatidylinositol binding. An important paralog of this gene is FRMD1.

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).

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

Genomics for FRMPD2 Gene

Regulatory Elements for FRMPD2 Gene

Genomic Location for FRMPD2 Gene

Start:
48,156,558 bp from pter
End:
48,274,898 bp from pter
Size:
118,341 bases
Orientation:
Minus strand

Genomic View for FRMPD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for FRMPD2 Gene at MOPED

Post-translational modifications for FRMPD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FRMPD2 Gene

No data available for DME Specific Peptides for FRMPD2 Gene

Domains for FRMPD2 Gene

Suggested Antigen Peptide Sequences for FRMPD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q68DX3

UniProtKB/Swiss-Prot:

FRPD2_HUMAN :
  • Q68DX3
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
  • Contains 1 FERM domain.
  • Contains 1 KIND domain.
  • Contains 3 PDZ (DHR) domains.
genes like me logo Genes that share domains with FRMPD2: view

No data available for Gene Families for FRMPD2 Gene

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).

Gene Ontology (GO) - Molecular Function for FRMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19706687
GO:0005545 1-phosphatidylinositol binding IDA 19706687
GO:0016772 transferase activity, transferring phosphorus-containing groups --
genes like me logo Genes that share ontologies with FRMPD2: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for FRMPD2 Gene COMPARTMENTS Subcellular localization image for FRMPD2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
cytosol 2
extracellular 2
mitochondrion 1
nucleus 1
peroxisome 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:0005923 bicellular tight junction IDA 19706687
GO:0016323 basolateral plasma membrane IDA 19706687
genes like me logo Genes that share ontologies with FRMPD2: view

Pathways for FRMPD2 Gene

SuperPathways for FRMPD2 Gene

No Data Available

Interacting Proteins for FRMPD2 Gene

Gene Ontology (GO) - Biological Process for FRMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 for FRMPD2 Gene

Transcripts for FRMPD2 Gene

Unigene Clusters for FRMPD2 Gene

FERM and PDZ domain containing 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FRMPD2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for FRMPD2
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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 for FRMPD2 Gene

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

This gene is overexpressed in Brain - Caudate (basal ganglia) (5.4), Brain - Anterior cingulate cortex (BA24) (5.3), Brain - Cortex (5.2), and Brain - Frontal Cortex (BA9) (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FRMPD2 Gene

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.
genes like me logo Genes that share expressions with FRMPD2: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 99.08 (n)
  • 98.93 (a)
FRMPD2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FRMPD2 35
  • 83.11 (n)
  • 77.99 (a)
FRMPD2 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FRMPD2 35
  • 82.34 (n)
  • 74.87 (a)
mouse
(Mus musculus)
Mammalia Gm626 35
  • 79.64 (n)
  • 74.05 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 71 (a)
OneToMany
-- 36
  • 52 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 50 (a)
OneToMany
-- 36
  • 39 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
-- 36
  • 3 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia RGD1565652 35
  • 79.69 (n)
  • 71.55 (a)
chicken
(Gallus gallus)
Aves FRMPD2 36
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii FRMPD2 (1 of 2) 36
  • 37 (a)
OneToMany
ptpn20 36
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-5.1 36
  • 15 (a)
ManyToMany
frm-5.2 36
  • 17 (a)
ManyToMany
Species with no ortholog for FRMPD2:
  • 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)

Paralogs for FRMPD2 Gene

Paralogs for FRMPD2 Gene

Selected SIMAP similar genes for FRMPD2 Gene using alignment to 3 proteins:

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 Sequence Context AA Info Type MAF
rs166815 -- 48,251,567(+) TTACC(A/G)TTGCG reference, synonymous-codon
rs166816 -- 48,244,228(+) GGTCT(C/G)CCCAC intron-variant
rs166817 -- 48,246,602(+) ACCTG(A/G)GGCTA intron-variant
rs169439 -- 48,242,632(+) GAAAA(A/C)TAGAT intron-variant
rs182205 -- 48,251,648(-) CAGGT(A/C)AGGGG synonymous-codon, reference

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

Variant ID Type Subtype PubMed ID
nsv436102 CNV Deletion 17901297
nsv7203 OTHER Inversion 18451855
dgv270e1 CNV Complex 17122850
dgv697n71 CNV Gain 21882294
dgv272e1 CNV Complex 17122850
essv22497 CNV CNV 17122850
esv24863 CNV Gain+Loss 19812545
nsv820931 CNV Deletion 20802225
nsv895363 CNV Loss 21882294
nsv895364 CNV Gain+Loss 21882294
nsv895365 CNV Loss 21882294
nsv895366 CNV Gain 21882294
nsv831864 CNV Gain 17160897
nsv895367 CNV Gain 21882294
nsv6565 CNV Insertion 18451855
nsv895368 CNV Gain 21882294
nsv8639 CNV Loss 18304495
nsv467190 CNV Gain 19166990
nsv895369 CNV Gain 21882294
esv1001778 CNV Deletion 20482838
nsv895370 CNV Gain 21882294
nsv6576 CNV Insertion 18451855

Relevant External Links for FRMPD2 Gene

HapMap Linkage Disequilibrium report
FRMPD2

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

Disorders for FRMPD2 Gene

Relevant External Links for FRMPD2

Genetic Association Database (GAD)
FRMPD2
Human Genome Epidemiology (HuGE) Navigator
FRMPD2
genes like me logo Genes that share disorders with FRMPD2: view

No data available for UniProtKB/Swiss-Prot for FRMPD2 Gene

Publications for FRMPD2 Gene

  1. PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells. (PMID: 19706687) Stenzel N. … Erdmann K.S. (J. Cell Sci. 2009) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 48
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for FRMPD2 Gene

Sources for FRMPD2 Gene

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