Human Gene FRMD4A (ENST00000357447.7)
  Description: Homo sapiens FERM domain containing 4A (FRMD4A), transcript variant 1, mRNA. (from RefSeq NM_018027)
RefSeq Summary (NM_018027): This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].
Gencode Transcript: ENST00000357447.7
Gencode Gene: ENSG00000151474.23
Transcript (Including UTRs)
   Position: hg38 chr10:13,643,706-14,330,924 Size: 687,219 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg38 chr10:13,651,905-14,330,102 Size: 678,198 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:13,643,706-14,330,924)mRNA (may differ from genome)Protein (1039 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: FRM4A_HUMAN
DESCRIPTION: RecName: Full=FERM domain-containing protein 4A;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity).
SIMILARITY: Contains 1 FERM domain.
CAUTION: It is uncertain whether Met-1 or Met-16 is the initiator.
SEQUENCE CAUTION: Sequence=BAA92532.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: FRMD4A
Diseases sorted by gene-association score: corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia* (1300), arrhythmogenic right ventricular dysplasia 6 (18), arrhythmogenic right ventricular cardiomyopathy (2), microcephaly (2), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.87 RPKM in Adipose - Subcutaneous
Total median expression: 83.58 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -142.10409-0.347 Picture PostScript Text
3' UTR -967.903332-0.290 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
IPR019750 - Band_41_fam
IPR021774 - DUF3338
IPR014352 - FERM/acyl-CoA-bd_prot_3-hlx
IPR019748 - FERM_central
IPR019747 - FERM_CS
IPR000299 - FERM_domain
IPR018979 - FERM_N
IPR018980 - FERM_PH-like_C
IPR011993 - PH_like_dom

Pfam Domains:
PF11819 - Domain of unknown function (DUF3338)
PF09380 - FERM C-terminal PH-like domain
PF00373 - FERM central domain
PF09379 - FERM N-terminal domain

ModBase Predicted Comparative 3D Structure on Q9P2Q2
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0030674 protein binding, bridging

Biological Process:
GO:0090162 establishment of epithelial cell polarity

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005912 adherens junction
GO:0005923 bicellular tight junction
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  BC151244 - Homo sapiens FERM domain containing 4A, mRNA (cDNA clone MGC:167839 IMAGE:8860518), complete cds.
AB037715 - Homo sapiens KIAA1294 mRNA for KIAA1294 protein.
AK289693 - Homo sapiens cDNA FLJ76738 complete cds, highly similar to Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.
AK094045 - Homo sapiens cDNA FLJ36726 fis, clone UTERU2012252.
AX748427 - Sequence 1952 from Patent EP1308459.
AK001072 - Homo sapiens cDNA FLJ10210 fis, clone HEMBA1006344, weakly similar to RADIXIN.
BC018891 - Homo sapiens FERM domain containing 4A, mRNA (cDNA clone IMAGE:3954440), partial cds.
BC108709 - Homo sapiens cDNA clone IMAGE:6161308.
AK057828 - Homo sapiens cDNA FLJ25099 fis, clone CBR01272.
AK129644 - Homo sapiens cDNA FLJ26133 fis, clone TMS03643.

-  Other Names for This Gene
  Alternate Gene Symbols: A7E2Y3, ENST00000357447.1, ENST00000357447.2, ENST00000357447.3, ENST00000357447.4, ENST00000357447.5, ENST00000357447.6, FRM4A_HUMAN, FRMD4, KIAA1294, NM_018027, Q5T377, Q9P2Q2, uc001ims.1, uc001ims.2, uc001ims.3, uc001ims.4, uc001ims.5
UCSC ID: ENST00000357447.7
RefSeq Accession: NM_018027
Protein: Q9P2Q2 (aka FRM4A_HUMAN)
CCDS: CCDS7101.1

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