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Aliases for FRMPD4 Gene

Aliases for FRMPD4 Gene

  • FERM And PDZ Domain Containing 4 2 3 5
  • PSD-95-Interacting Regulator Of Spine Morphogenesis 3 4
  • PDZ Domain-Containing Protein 10 3 4
  • PDZD10 3 4
  • PDZK10 3 4
  • Preso 3 4
  • PSD-95-Interacting FERM And PDZ Domain Protein 3
  • PDZ Domain Containing 10 2
  • KIAA0316 4

External Ids for FRMPD4 Gene

Previous HGNC Symbols for FRMPD4 Gene

  • PDZK10
  • PDZD10

Previous GeneCards Identifiers for FRMPD4 Gene

  • GC0XP009927

Summaries for FRMPD4 Gene

Entrez Gene Summary for FRMPD4 Gene

  • This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]

GeneCards Summary for FRMPD4 Gene

FRMPD4 (FERM And PDZ Domain Containing 4) is a Protein Coding gene. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding. An important paralog of this gene is FRMPD3.

UniProtKB/Swiss-Prot for FRMPD4 Gene

  • Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRMPD4 Gene

Genomics for FRMPD4 Gene

Regulatory Elements for FRMPD4 Gene

Promoters for FRMPD4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FRMPD4 on UCSC Golden Path with GeneCards custom track

Genomic Location for FRMPD4 Gene

Chromosome:
X
Start:
12,138,466 bp from pter
End:
12,724,523 bp from pter
Size:
586,058 bases
Orientation:
Plus strand

Genomic View for FRMPD4 Gene

Genes around FRMPD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRMPD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRMPD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRMPD4 Gene

Proteins for FRMPD4 Gene

  • Protein details for FRMPD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14CM0-FRPD4_HUMAN
    Recommended name:
    FERM and PDZ domain-containing protein 4
    Protein Accession:
    Q14CM0
    Secondary Accessions:
    • A8K0X9
    • O15032

    Protein attributes for FRMPD4 Gene

    Size:
    1322 amino acids
    Molecular mass:
    144379 Da
    Quaternary structure:
    • Interacts (via C-terminus) with DLG1, DLG2, DLG3 and DLG4/PSD95. Interacts (via N-terminus) with ARHGEF7; the interaction is mediated by the PDZ domain (PubMed:19118189). Interacts with GPSM2 (via TPR repeat region) (PubMed:25664792).

    Three dimensional structures from OCA and Proteopedia for FRMPD4 Gene

neXtProt entry for FRMPD4 Gene

Proteomics data for FRMPD4 Gene at MOPED

Post-translational modifications for FRMPD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FRMPD4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for FRMPD4 (Preso/FRMPD4)

No data available for DME Specific Peptides for FRMPD4 Gene

Domains & Families for FRMPD4 Gene

Gene Families for FRMPD4 Gene

Suggested Antigen Peptide Sequences for FRMPD4 Gene

Graphical View of Domain Structure for InterPro Entry

Q14CM0

UniProtKB/Swiss-Prot:

FRPD4_HUMAN :
  • The FERM domain mediates the interaction with phosphatidylinositol 4,5-bisphosphate.
Domain:
  • The FERM domain mediates the interaction with phosphatidylinositol 4,5-bisphosphate.
  • Contains 1 FERM domain.
  • Contains 1 PDZ (DHR) domain.
  • Contains 1 WW domain.
genes like me logo Genes that share domains with FRMPD4: view

Function for FRMPD4 Gene

Molecular function for FRMPD4 Gene

UniProtKB/Swiss-Prot Function:
Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate.

Gene Ontology (GO) - Molecular Function for FRMPD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19118189
genes like me logo Genes that share ontologies with FRMPD4: view
genes like me logo Genes that share phenotypes with FRMPD4: view

Animal Models for FRMPD4 Gene

MGI Knock Outs for FRMPD4:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FRMPD4 Gene

Localization for FRMPD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRMPD4 Gene

Cell projection, dendritic spine.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FRMPD4 Gene COMPARTMENTS Subcellular localization image for FRMPD4 gene
Compartment Confidence
cytosol 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for FRMPD4 Gene

Pathways & Interactions for FRMPD4 Gene

SuperPathways for FRMPD4 Gene

No Data Available

Interacting Proteins for FRMPD4 Gene

Gene Ontology (GO) - Biological Process for FRMPD4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FRMPD4 Gene

Drugs & Compounds for FRMPD4 Gene

No Compound Related Data Available

Transcripts for FRMPD4 Gene

mRNA/cDNA for FRMPD4 Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(17) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FRMPD4 Gene

FERM and PDZ domain containing 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FRMPD4 Gene

No ASD Table

Relevant External Links for FRMPD4 Gene

GeneLoc Exon Structure for
FRMPD4
ECgene alternative splicing isoforms for
FRMPD4

Expression for FRMPD4 Gene

mRNA expression in normal human tissues for FRMPD4 Gene

mRNA differential expression in normal tissues according to GTEx for FRMPD4 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x8.7), Brain - Anterior cingulate cortex (BA24) (x7.2), Brain - Cortex (x7.1), and Brain - Nucleus accumbens (basal ganglia) (x4.9).

Protein differential expression in normal tissues from HIPED for FRMPD4 Gene

This gene is overexpressed in Nasal epithelium (66.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FRMPD4 Gene



SOURCE GeneReport for Unigene cluster for FRMPD4 Gene Hs.657507

genes like me logo Genes that share expression patterns with FRMPD4: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for FRMPD4 Gene

Orthologs for FRMPD4 Gene

This gene was present in the common ancestor of animals.

Orthologs for FRMPD4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FRMPD4 35
  • 88.16 (n)
  • 90.19 (a)
FRMPD4 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FRMPD4 35
  • 89.91 (n)
  • 92.88 (a)
FRMPD4 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Frmpd4 35
  • 87.79 (n)
  • 90.75 (a)
Frmpd4 16
Frmpd4 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FRMPD4 35
  • 99.72 (n)
  • 100 (a)
FRMPD4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Frmpd4 35
  • 87.34 (n)
  • 90.76 (a)
oppossum
(Monodelphis domestica)
Mammalia FRMPD4 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FRMPD4 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRMPD4 35
  • 77.29 (n)
  • 80.72 (a)
FRMPD4 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FRMPD4 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmpd4 35
  • 68.16 (n)
  • 70.26 (a)
zebrafish
(Danio rerio)
Actinopterygii frmpd4 35
  • 63.77 (n)
  • 64.39 (a)
tlr7 36
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42788 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-8 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToMany
Species with no ortholog for FRMPD4:
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for FRMPD4 Gene

ENSEMBL:
Gene Tree for FRMPD4 (if available)
TreeFam:
Gene Tree for FRMPD4 (if available)

Paralogs for FRMPD4 Gene

Paralogs for FRMPD4 Gene

genes like me logo Genes that share paralogs with FRMPD4: view

Variants for FRMPD4 Gene

Sequence variations from dbSNP and Humsavar for FRMPD4 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs739575 -- 12,253,462(+) TCTTG(C/T)GGTTT intron-variant
rs893497 -- 12,647,852(-) ATAAC(C/T)AGTAA intron-variant
rs1013549 -- 12,142,945(+) TTCTC(C/T)CCCTT intron-variant
rs916764 -- 12,188,879(+) CACCT(G/T)TGTTC intron-variant
rs916765 -- 12,210,180(+) AATGC(A/C)GACCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FRMPD4 Gene

Variant ID Type Subtype PubMed ID
nsv424962 CNV Loss 16902084
nsv6802 CNV Loss 18451855
nsv507945 CNV Insertion 20534489
nsv516772 CNV Gain 19592680
esv2664942 CNV Deletion 23128226
nsv515168 CNV Loss 21397061
nsv518725 CNV Gain 19592680
esv2678043 CNV Deletion 23128226
esv2675942 CNV Deletion 23128226
nsv6803 CNV Loss 18451855
nsv510525 CNV Loss 20534489
nsv519419 CNV Gain 19592680
nsv512669 CNV Loss 21212237
esv2565381 CNV Deletion 19546169

Variation tolerance for FRMPD4 Gene

Residual Variation Intolerance Score: 7.25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FRMPD4 Gene

HapMap Linkage Disequilibrium report
FRMPD4
Human Gene Mutation Database (HGMD)
FRMPD4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRMPD4 Gene

Disorders for FRMPD4 Gene

Relevant External Links for FRMPD4

Genetic Association Database (GAD)
FRMPD4
Human Genome Epidemiology (HuGE) Navigator
FRMPD4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FRMPD4

No disorders were found for FRMPD4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRMPD4 Gene

Publications for FRMPD4 Gene

  1. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 2 3 4 67
  2. Protein phosphatase 1I+ interacting proteins in the human brain. (PMID: 22321011) Esteves S.L. … da Cruz e Silva E.F. (OMICS 2012) 3
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3
  4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 3
  5. Preso, a novel PSD-95-interacting FERM and PDZ domain protein that regulates dendritic spine morphogenesis. (PMID: 19118189) Lee H.W. … Kim E. (J. Neurosci. 2008) 3

Products for FRMPD4 Gene

Sources for FRMPD4 Gene

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