FRMPD4 Gene
protein-coding GIFtS: 49
GCID: GC0XP012066
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|
FERM and PDZ domain containing 4(Previous name: PDZ domain containing 10 )
(Previous symbols: PDZK10, PDZD10)
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Aliases
for FRMPD4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| FERM And PDZ Domain Containing 41 2 | | Preso2 3 | | PDZD101 2 3 | | PDZ Domain-Containing Protein 102 3 | | PDZK101 2 3 | | PSD-95-Interacting Regulator Of Spine Morphogenesis2 3 | | PDZ Domain Containing 101 2 | | FERM And PDZ Domain-Containing Protein 42 | | KIAA03161 3 | | PSD-95-Interacting FERM And PDZ Domain Protein2 |
Export aliases for FRMPD4 gene to outside databasesPrevious GC identifer: GC0XP009927 |
Summaries
for FRMPD4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for FRMPD4:
This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (suchas PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for themaintenance of excitatory synaptic transmission. (provided by RefSeq, Jan 2010)
UniProtKB/Swiss-Prot: FRPD4_HUMAN, Q14CM0Function: Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatorysynaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate
|
Genomic Views
for FRMPD4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_167197.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the FRMPD4 gene promoter:
Nkx3-1 Nkx3-1 v4 FOXD3 Lmo2 Nkx3-1 v1 Tal-1beta E47 Nkx3-1 v2 FOXC1 Nkx3-1 v3
Other transcription factors
Search SABiosciences Chromatin IP Primers for FRMPD4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRMPD4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xp22.2 Ensembl cytogenetic band: Xp22.2 HGNC cytogenetic band: Xp22.31FRMPD4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XP012066: view genomic region
(about GC identifiers)
Start:
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12,156,585 bp from pter |
End:
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12,742,642 bp from pter |
Size:
|
586,058 bases |
Orientation:
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plus strand |
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Proteins
for FRMPD4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: FRPD4_HUMAN, Q14CM0 (See
protein sequence)Recommended Name: FERM and PDZ domain-containing protein 4 Size: 1322 amino acids; 144379 Da
Subunit: Interacts (via C-terminus) with DLG1, DLG2, DLG3 and DLG4/PSD95. Interacts (via N-terminus) with ARHGEF7; theinteraction is mediated by the PDZ domain
Subcellular location: Cell projection, dendritic spine
Secondary accessions: A8K0X9 O15032Explore the universe of human proteins at neXtProt for FRMPD4: NX_Q14CM0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q14CM0
FRMPD4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_055543.2
ENSEMBL proteins: ENSP00000370057
Human Recombinant Protein Products for FRMPD4:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
FRMPD4 for ontologies About GeneDecksing
FRMPD4 Antibody Products:
Assay Products for FRMPD4: |
Protein
Domains /
Families
for FRMPD4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FRMPD4 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q14CM0ProtoNet protein and cluster: Q14CM0 1 Blocks protein family: IPB000299 Band 4.1 domain
UniProtKB/Swiss-Prot: FRPD4_HUMAN, Q14CM0Domain: The FERM domain mediates the interaction with phosphatidylinositol 4,5-bisphosphateSimilarity: Contains 1 FERM domainSimilarity: Contains 1 PDZ (DHR) domainSimilarity: Contains 1 WW domain |
Function
for FRMPD4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: FRPD4_HUMAN, Q14CM0Function: Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatorysynaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
FRMPD4 for ontologies About GeneDecksing
Phenotypes:
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Frmpd4):
FRMPD4 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Frmpd4tm1.1Pfw for FRMPD4
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FRMPD4 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FRMPD4
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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Synthesis Service for FRMPD4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FRMPD4 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRMPD4 |
|
Pathways & Interactions
for FRMPD4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FRMPD4
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
5/7 Interacting proteins for FRMPD4 (Q14CM02, 3 ENSP000003700574) via UniProtKB, MINT, STRING, and/or I2D (see all 7)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0051835 | positive regulation of synapse structural plasticity |
IMP | 19118189 |
FRMPD4 for ontologies About GeneDecksing
|
Drugs & Compounds
for FRMPD4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for FRMPD4
Search CenterWatch for drugs/clinical trials and news about FRMPD4 / FRPD4
|
Transcripts
for FRMPD4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for FRMPD4 gene: NM_014728.3 Unigene Cluster for FRMPD4: FERM and PDZ domain containing 4 Hs.657507 [show with all ESTs]Unigene Representative Sequence: NM_0147281 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000380682(uc004cuz.2 uc011mij.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FRMPD4 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FRMPD4
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: FRMPD4 (NM_014728) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FRMPD4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FRMPD4 |
Additional cDNA sequence: AB002314.3 AK289694.1 BC113700.1 BC113702.1 BC143746.1 4 DOTS entries: DT.405953 DT.442845 DT.100691297 DT.40190661 17 AceView cDNA sequences: AA772074 AA947461 AB002314 CA413987 BG149690 BF433737 AW139139 AA838814 BQ717889 Z41089 AW297087 BI791494 AA984414 BI712905 Z45374 BG149207 AA724666
GeneLoc Exon Structure
|
Expression
for FRMPD4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| FRMPD4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTAGAGCAAA
About this image
See FRMPD4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FRMPD4
SOURCE GeneReport for Unigene cluster: Hs.657507
SABiosciences Custom PCR Arrays for FRMPD4
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FRMPD4
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRMPD4 |
Orthologs
for FRMPD4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for FRMPD4 gene from 5/16 species (see all 16) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
FRMPD41 |
FERM and PDZ domain containing 4 |
76.82(n)
80.11(a) |
|
418640 XM_416838.3 XP_416838.3 |
lizard
(Anolis carolinensis) |
Reptilia |
FRMPD46 |
-- |
69(a) |
1 ↔ 1 |
3(119953041-119960179) |
zebrafish
(Danio rerio) |
Actinopterygii |
frmpd41 |
FERM and PDZ domain containing 4 |
64.29(n)
65.9(a) |
|
403129 XM_003199262.1 XP_003199310.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG427886 |
-- |
17(a) |
1 → many |
3R(10921679-10957646) |
worm
(Caenorhabditis elegans) |
Secernentea |
frm-86 |
FERM domain (protein4.1-ezrin-radixin-moesin) fami... |
23(a) |
1 → many |
III(3200791-3219143) |
ENSEMBL Gene Tree for FRMPD4 (if available)
TreeFam Gene Tree for FRMPD4 (if available) |
Paralogs
for FRMPD4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for FRMPD4 gene
- FRMPD12 FRMPD32
FRMPD4 for paralogs About GeneDecksing
|
Genomic Variants
for FRMPD4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for FRMPD4 (12156585 - 12406585 bp, first 250kb of FRMPD4)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for FRMPD4
3 CNVs: 6734 103228 52922
Human Gene Mutation Database (HGMD): FRMPD4
Locus Specific Mutation Databases (LSDB): FRMPD4
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FRMPD4 |
|
Disorders
/ Diseases
for FRMPD4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
 FRMPD4 for disorders About MalaCards
FRMPD4 for disorders About GeneDecksing
OMIM gene information: 300838
OMIM disorders: --
Human Genome Epidemiology (HuGE) Navigator: FRMPD4 (3 documents)
Export disorders for FRMPD4 gene to outside databases
|
Publications
for FRMPD4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for FRMPD4 gene integrated from 9 sources:
(articles sorted by number of sources associating them with FRMPD4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (1997)
- Preso, a novel PSD-95-interacting FERM and PDZ domain protein that regulates dendritic spine morphogenesis. (PubMed id 19118189)1, 2 Lee H.W....Kim E. (2008)
- Protein phosphatase 1a interacting proteins in the hum an brain. (PubMed id 22321011)1 Esteves S.L....da Cruz e Silva E.F. (2012)
- Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
- Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
- Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
- Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PubMed id 12421765)1 Nakayama M....Ohara O. (2002)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for FRMPD4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing FRMPD4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing FRMPD4 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing FRMPD4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for FRMPD4 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for FRMPD4 gene:
Search GeneIP for patents involving FRMPD4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for FRMPD4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRMPD4 |
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