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] See more...

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
  • FERM And PDZ Domain-Containing Protein 4 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
  • MRX104 3

External Ids for FRMPD4 Gene

Previous HGNC Symbols for FRMPD4 Gene

  • PDZK10
  • PDZD10

Previous GeneCards Identifiers for FRMPD4 Gene

  • GC0XP012066
  • 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 X-Linked Non-Specific Intellectual Disability. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding. An important paralog of this gene is FRMPD3.

UniProtKB/Swiss-Prot Summary for FRMPD4 Gene

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

Additional gene information for FRMPD4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FRMPD4 Gene

Genomics for FRMPD4 Gene

GeneHancer (GH) Regulatory Elements for FRMPD4 Gene

Promoters and enhancers for FRMPD4 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
GH0XJ012137 Promoter 1.2 EPDnew Ensembl 750.1 +316.3 316271 2.2 CTCF ZBTB6 ZNF121 ZIC2 ZBTB8A PRDM10 ZEB2 ZNF561 ZNF524 ZBTB20 FRMPD4 ENSG00000206795 piR-40110-697
GH0XJ012446 Enhancer 0.8 Ensembl ENCODE 6.8 +624.9 624884 2 BCL6B CREB1 ZEB2 CEBPB ZNF629 ZBTB20 SCRT2 FOS ZFP69B ZFHX2 FRMPD4 piR-59297-687 RPL17P49 lnc-FAM9C-7
GH0XJ012370 Enhancer 0.7 FANTOM5 Ensembl ENCODE 7.7 +549.2 549151 3 ZBTB17 NR2F2 FRMPD4 FRMPD4-AS1 RF00951-161
GH0XJ012359 Enhancer 0.8 Ensembl ENCODE 5 +538.4 538427 2.3 ZNF121 MAFK SP7 ZNF639 ZNF629 SP1 ZSCAN5C OSR2 ZBTB17 FOS FRMPD4 FRMPD4-AS1 RF00951-161
GH0XJ012313 Enhancer 0.2 Ensembl 4.5 +491.1 491078 0.6 FRMPD4 FRMPD4-AS1 RF00951-161
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRMPD4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FRMPD4 gene promoter:
  • E47
  • FOXC1
  • FOXD3
  • Lmo2
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Tal-1beta

Genomic Locations for FRMPD4 Gene

Genomic Locations for FRMPD4 Gene
chrX:11,822,423-12,724,523
(GRCh38/hg38)
Size:
902,101 bases
Orientation:
Plus strand
chrX:12,156,585-12,742,642
(GRCh37/hg19)
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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FRMPD4 Gene

GenScript: Design optimal peptide antigens:
  • FRMPD4 protein (B7ZLE1_HUMAN)
  • PSD-95-interacting regulator of spine morphogenesis (FRPD4_HUMAN)

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.

Phenotypes From GWAS Catalog for FRMPD4 Gene

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 IBA,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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRMPD4

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
cytoskeleton 2
nucleus 2
cytosol 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:0014069 postsynaptic density IEA --
GO:0032991 protein-containing complex IDA 22074847
GO:0042995 cell projection IEA --
GO:0043197 dendritic spine IBA,IDA 19118189
genes like me logo Genes that share ontologies with FRMPD4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FRMPD4 Gene

Pathways & Interactions for FRMPD4 Gene

PathCards logo

SuperPathways for FRMPD4 Gene

No Data Available

Interacting Proteins for FRMPD4 Gene

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
GO:0098974 postsynaptic actin cytoskeleton organization IEA --
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

(9) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(17) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRMPD4

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 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

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 33 32
  • 99.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FRMPD4 33 32
  • 89.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FRMPD4 33 32
  • 88.16 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Frmpd4 17 33 32
  • 87.79 (n)
rat
(Rattus norvegicus)
Mammalia Frmpd4 32
  • 87.34 (n)
oppossum
(Monodelphis domestica)
Mammalia FRMPD4 33
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FRMPD4 33
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRMPD4 33 32
  • 77.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FRMPD4 33
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmpd4 32
  • 68.16 (n)
zebrafish
(Danio rerio)
Actinopterygii frmpd4 32
  • 63.77 (n)
tlr7 33
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42788 33
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-8 33
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FRMPD4: view image

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 Variation AA Info Type
rs1569057837 pathogenic, Mental retardation, X-linked 104 12,694,377(+) C/T coding_sequence_variant, stop_gained
rs41303149 likely-benign, uncertain-significance, not specified, Autism, susceptibility to, X-linked 4, not provided 12,718,763(+) C/A/T coding_sequence_variant, missense_variant, synonymous_variant
rs779013797 likely-benign, Autism, susceptibility to, X-linked 4 12,701,921(+) T/C coding_sequence_variant, synonymous_variant
rs886038208 pathogenic, Mental retardation, X-linked 104 12,716,306(+) CCCCC/CCCC coding_sequence_variant, frameshift
rs886038209 pathogenic, Mental retardation, X-linked 104, Mental retardation, X-linked 104 (MRX104) [MIM:300983] 12,716,116(+) T/C coding_sequence_variant, missense_variant

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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked 104
  • mrx104
x-linked non-specific intellectual disability
  • x-linked non-syndromic intellectual disability
- 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.

Additional Disease Information for FRMPD4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 56
  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 crystallographica. Section F, Structural biology communications 2015) 3 4 56
  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 SD … DREAM investigators (Diabetes care 2010) 3 43 56
  4. Preso, a novel PSD-95-interacting FERM and PDZ domain protein that regulates dendritic spine morphogenesis. (PMID: 19118189) Lee HW … Kim E (The Journal of neuroscience : the official journal of the Society for Neuroscience 2008) 3 4 56
  5. Proteome-wide analysis of phospho-regulated PDZ domain interactions. (PMID: 30126976) Sundell GN … Ivarsson Y (Molecular systems biology 2018) 3 56

Products for FRMPD4 Gene

Sources for FRMPD4 Gene