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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
  • FERM And PDZ Domain-Containing Protein 4 3
  • PDZ Domain Containing 10 2
  • KIAA0316 4
  • MRX104 3

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. Diseases associated with FRMPD4 include Mental Retardation, X-Linked 104 and Non-Syndromic X-Linked Intellectual Disability. 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 CIViC summary , 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

Enhancers for FRMPD4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG012446 0.8 ENCODE 6.8 +308.8 308842 2.0 CTCF ZBTB21 FEZF1 RAD21 ZFHX2 ZNF366 SCRT2 SMC3 FOS ZBTB20 FRMPD4 RPL17P49 ENSG00000273800
GH0XG012370 0.7 FANTOM5 ENCODE 7.7 +232.3 232297 1.3 BHLHE40 NR2F2 FRMPD4 GC0XP012369 FRMPD4-AS1
GH0XG012359 0.7 ENCODE 5 +222.3 222344 2.2 INSM2 ZNF121 GATA2 ZNF366 ZSCAN5C ZNF391 FOS MAFK NFE2L2 ZNF639 FRMPD4 GC0XP012369 GC0XM012120
GH0XG012136 0.4 FANTOM5 1.9 -1.5 -1462 0.4 ZSCAN4 FRMPD4 GC0XM012054 ENSG00000206792
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FRMPD4 on UCSC Golden Path with GeneCards custom track

Promoters for FRMPD4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000244481 35 1399 CTCF ZIC2 ZNF2 ZNF121 ZFHX2 ZBTB48 SMC3 PRDM10 ZNF391 ZBTB20

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

Post-translational modifications for FRMPD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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.
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
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 19118189
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with FRMPD4: view
genes like me logo Genes that share phenotypes with FRMPD4: view

Human Phenotype Ontology for FRMPD4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FRMPD4 Gene

MGI Knock Outs for FRMPD4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 FRMPD4 gene
Compartment Confidence
cytosol 3
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FRMPD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0042995 cell projection IEA --
GO:0043197 dendritic spine IDA,IEA 19118189
genes like me logo Genes that share ontologies with FRMPD4: view

Pathways & Interactions for FRMPD4 Gene

SuperPathways for FRMPD4 Gene

No Data Available

Interacting Proteins for FRMPD4 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000370057%0d%0a9606.ENSP00000264126%0d%0a9606.ENSP00000309845%0d%0a9606.ENSP00000256078%0d%0a9606.ENSP00000358548%0d%0a9606.ENSP00000392828%0d%0a
Selected Interacting proteins: ENSP00000370057 Q14CM0-FRPD4_HUMAN for FRMPD4 Gene via STRING IID

Gene Ontology (GO) - Biological Process for FRMPD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051835 positive regulation of synapse structural plasticity IMP 19118189
genes like me logo Genes that share ontologies with FRMPD4: view

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

Unigene Clusters for FRMPD4 Gene

FERM and PDZ domain containing 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for FRMPD4 Gene



NURSA nuclear receptor signaling pathways regulating expression of FRMPD4 Gene:

FRMPD4

SOURCE GeneReport for Unigene cluster for FRMPD4 Gene:

Hs.657507

Evidence on tissue expression from TISSUES for FRMPD4 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with FRMPD4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia FRMPD4 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia FRMPD4 34 35
  • 89.91 (n)
cow
(Bos Taurus)
Mammalia FRMPD4 34 35
  • 88.16 (n)
mouse
(Mus musculus)
Mammalia Frmpd4 34 16 35
  • 87.79 (n)
rat
(Rattus norvegicus)
Mammalia Frmpd4 34
  • 87.34 (n)
oppossum
(Monodelphis domestica)
Mammalia FRMPD4 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FRMPD4 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRMPD4 34 35
  • 77.29 (n)
lizard
(Anolis carolinensis)
Reptilia FRMPD4 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmpd4 34
  • 68.16 (n)
zebrafish
(Danio rerio)
Actinopterygii frmpd4 34
  • 63.77 (n)
tlr7 35
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42788 35
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-8 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToMany
Species where no ortholog for FRMPD4 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)
  • 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
VAR_077481 Mental retardation, X-linked 104 (MRX104) [MIM:300983]
rs886038208 Pathogenic 12,716,306(+) GGAGG(-/C)CCCCT reference, frameshift-variant
rs886038209 Pathogenic 12,716,116(+) GGAAC(C/T)GTATA reference, missense
rs139449383 Likely benign 12,614,847(+) TCAGC(A/G)CTGCA reference, missense
rs6641078 Likely benign 12,707,582(+) CACGT(C/G)AACAG reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv2222e212 CNV loss 25503493
esv2565381 CNV deletion 19546169
esv2664942 CNV deletion 23128226
esv2675942 CNV deletion 23128226
esv2678043 CNV deletion 23128226
esv3418268 CNV insertion 20981092
esv3558627 CNV deletion 23714750
esv3558628 CNV deletion 23714750
esv3573583 CNV loss 25503493
esv3573584 CNV loss 25503493
nsv1075720 CNV deletion 25765185
nsv1119630 CNV deletion 24896259
nsv424962 CNV deletion 16902084
nsv507945 OTHER sequence alteration 20534489
nsv510525 OTHER sequence alteration 20534489
nsv512669 CNV loss 21212237
nsv515168 CNV loss 21397061
nsv516772 CNV gain 19592680
nsv518725 CNV gain 19592680
nsv519419 CNV gain 19592680
nsv6802 CNV deletion 18451855
nsv6803 CNV deletion 18451855

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

Human Gene Mutation Database (HGMD)
FRMPD4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRMPD4

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

Disorders for FRMPD4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FRMPD4 Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked 104
  • mrx104
non-syndromic x-linked intellectual disability
  • non-specific x-linked mental retardation
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FRPD4_HUMAN
  • Mental retardation, X-linked 104 (MRX104) [MIM:300983]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:25644381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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

No data available for 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 64
  2. Structural basis for the recognition of the scaffold protein Frmpd4/Preso1 by the TPR domain of the adaptor protein LGN. (PMID: 25664792) Takayanagi H. … Sumimoto H. (Acta Crystallogr. F 2015) 3 4 64
  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 46 64
  4. 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 4 64
  5. Possibility of a sex-specific role for a genetic variant in FRMPD4 in schizophrenia, but not cognitive function. (PMID: 26555035) Matosin N. … Fernandez-Enright F. (Neuroreport 2016) 3 64

Products for FRMPD4 Gene

Sources for FRMPD4 Gene

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