Human Gene FRMPD4 (uc004cuz.2)
  Description: Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.
RefSeq Summary (NM_014728): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chrX:12,156,585-12,742,642 Size: 586,058 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg19 chrX:12,157,091-12,738,652 Size: 581,562 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:12,156,585-12,742,642)mRNA (may differ from genome)Protein (1322 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FRPD4_HUMAN
DESCRIPTION: RecName: Full=FERM and PDZ domain-containing protein 4; AltName: Full=PDZ domain-containing protein 10; AltName: Full=PSD-95-interacting regulator of spine morphogenesis; Short=Preso;
FUNCTION: Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Cell projection, dendritic spine.
DOMAIN: The FERM domain mediates the interaction with phosphatidylinositol 4,5-bisphosphate.
SIMILARITY: Contains 1 FERM domain.
SIMILARITY: Contains 1 PDZ (DHR) domain.
SIMILARITY: Contains 1 WW domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FRMPD4
CDC HuGE Published Literature: FRMPD4

-  MalaCards Disease Associations
  MalaCards Gene Search: FRMPD4
Diseases sorted by gene-association score: mental retardation, x-linked 104* (1330), x-linked non-specific intellectual disability* (67)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.67 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 31.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -273.40506-0.540 Picture PostScript Text
3' UTR -1155.353990-0.290 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019749 - Band_41_domain
IPR014352 - FERM/acyl-CoA-bd_prot_3-hlx
IPR019748 - FERM_central
IPR000299 - FERM_domain
IPR001478 - PDZ
IPR001202 - WW_Rsp5_WWP

Pfam Domains:
PF00373 - FERM central domain
PF00595 - PDZ domain (Also known as DHR or GLGF)

SCOP Domains:
47031 - Second domain of FERM
50156 - PDZ domain-like
51045 - WW domain

ModBase Predicted Comparative 3D Structure on Q14CM0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0008289 lipid binding

Biological Process:
GO:0051835 positive regulation of synapse structural plasticity

Cellular Component:
GO:0005856 cytoskeleton
GO:0032991 macromolecular complex
GO:0042995 cell projection
GO:0043197 dendritic spine


-  Descriptions from all associated GenBank mRNAs
  AB002314 - Homo sapiens KIAA0316 mRNA for KIAA0316 protein.
AK289694 - Homo sapiens cDNA FLJ77007 complete cds, highly similar to Homo sapiens PDZ domain containing 10 (PDZK10), mRNA.
BC113700 - Homo sapiens FERM and PDZ domain containing 4, mRNA (cDNA clone MGC:142260 IMAGE:8322752), complete cds.
BC113702 - Homo sapiens FERM and PDZ domain containing 4, mRNA (cDNA clone MGC:142262 IMAGE:8322754), complete cds.
BC143746 - Homo sapiens FERM and PDZ domain containing 4, mRNA (cDNA clone MGC:177277 IMAGE:9052260), complete cds.
HQ258540 - Synthetic construct Homo sapiens clone IMAGE:100072969 FERM and PDZ domain containing 4 (FRMPD4) (FRMPD4) gene, encodes complete protein.
AB383846 - Synthetic construct DNA, clone: pF1KSDA0316, Homo sapiens FRMPD4 gene for FERM and PDZ domain-containing protein 4, complete cds, without stop codon, in Flexi system.
JD446052 - Sequence 427076 from Patent EP1572962.
JD389821 - Sequence 370845 from Patent EP1572962.
JD389897 - Sequence 370921 from Patent EP1572962.
JD225113 - Sequence 206137 from Patent EP1572962.
JD408493 - Sequence 389517 from Patent EP1572962.
JD273322 - Sequence 254346 from Patent EP1572962.
JD263840 - Sequence 244864 from Patent EP1572962.
JD401435 - Sequence 382459 from Patent EP1572962.
JD386046 - Sequence 367070 from Patent EP1572962.
JD238781 - Sequence 219805 from Patent EP1572962.
JD444565 - Sequence 425589 from Patent EP1572962.
JD131797 - Sequence 112821 from Patent EP1572962.
JD469906 - Sequence 450930 from Patent EP1572962.
JD387312 - Sequence 368336 from Patent EP1572962.
JD102780 - Sequence 83804 from Patent EP1572962.
JD341696 - Sequence 322720 from Patent EP1572962.
JD284208 - Sequence 265232 from Patent EP1572962.
JD075117 - Sequence 56141 from Patent EP1572962.
JD454501 - Sequence 435525 from Patent EP1572962.
JD340208 - Sequence 321232 from Patent EP1572962.
JD076213 - Sequence 57237 from Patent EP1572962.
JD497783 - Sequence 478807 from Patent EP1572962.
JD096580 - Sequence 77604 from Patent EP1572962.
JD333380 - Sequence 314404 from Patent EP1572962.
JD073673 - Sequence 54697 from Patent EP1572962.
JD175185 - Sequence 156209 from Patent EP1572962.
JD176765 - Sequence 157789 from Patent EP1572962.
JD067583 - Sequence 48607 from Patent EP1572962.
JD200694 - Sequence 181718 from Patent EP1572962.
JD041890 - Sequence 22914 from Patent EP1572962.
JD073530 - Sequence 54554 from Patent EP1572962.
JD203137 - Sequence 184161 from Patent EP1572962.
JD167725 - Sequence 148749 from Patent EP1572962.
JD037746 - Sequence 18770 from Patent EP1572962.
JD061857 - Sequence 42881 from Patent EP1572962.
JD152139 - Sequence 133163 from Patent EP1572962.
JD566356 - Sequence 547380 from Patent EP1572962.
JD086045 - Sequence 67069 from Patent EP1572962.
JD299280 - Sequence 280304 from Patent EP1572962.
JD131980 - Sequence 113004 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K0X9, FRPD4_HUMAN, KIAA0316, NM_014728, NP_055543, O15032, PDZD10, PDZK10, Q14CM0
UCSC ID: uc004cuz.2
RefSeq Accession: NM_014728
Protein: Q14CM0 (aka FRPD4_HUMAN)
CCDS: CCDS35201.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014728.3
exon count: 17CDS single in 3' UTR: no RNA size: 8477
ORF size: 3969CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7964.00frame shift in genome: no % Coverage: 99.86
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.