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Aliases for FRMD4A Gene

Aliases for FRMD4A Gene

  • FERM Domain Containing 4A 2 3 5
  • FERM Domain Containing 4 2 3
  • FRMD4 3 4
  • FERM Domain-Containing Protein 4A 3
  • BA295P9.4 3
  • KIAA1294 4
  • CCAFCA 3

External Ids for FRMD4A Gene

Previous HGNC Symbols for FRMD4A Gene

  • FRMD4

Previous GeneCards Identifiers for FRMD4A Gene

  • GC10M013725
  • GC10M013597

Summaries for FRMD4A Gene

Entrez Gene Summary for FRMD4A Gene

  • 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]

GeneCards Summary for FRMD4A Gene

FRMD4A (FERM Domain Containing 4A) is a Protein Coding gene. Diseases associated with FRMD4A include Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome and Arrhythmogenic Right Ventricular Dysplasia 6. GO annotations related to this gene include protein binding, bridging. An important paralog of this gene is FRMD4B.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRMD4A Gene

Genomics for FRMD4A Gene

Regulatory Elements for FRMD4A Gene

Enhancers for FRMD4A 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
GH10G014403 1.4 FANTOM5 ENCODE dbSUPER 11.7 +56.6 56583 4.5 PKNOX1 NFIB ZSCAN4 YBX1 PAX8 ZNF664 CTBP1 GATA3 SCRT2 HNF4G FRMD4A MIR1265 ENSG00000278100
GH10G014414 1 ENCODE dbSUPER 11.3 +46.2 46175 2.8 BACH1 BMI1 RELB IKZF2 MTA2 BHLHE40 NR2F1 ZNF10 TRIM22 DPF2 MIR1265 FRMD4A ENSG00000278100
GH10G014486 0.8 Ensembl ENCODE 11.9 -25.4 -25358 1.9 ZNF263 FOXA2 RFX1 FOS BMI1 ZNF652 NFE2L2 FRMD4A FAM107B GC10M014524
GH10G013682 1.3 Ensembl ENCODE dbSUPER 6.3 +776.7 776714 4.9 SOX13 PKNOX1 FOXA2 JUN SIN3A MAX ZIC2 RARA EGR1 GATA2 RNA5SP301 ENSG00000234091 ENSG00000225112 FRMD4A ENSG00000273474 LOC105376426
GH10G013815 1.3 Ensembl ENCODE dbSUPER 6.3 +645.7 645703 2.2 PKNOX1 FEZF1 RAD21 ZSCAN5C FOS ZNF280D ZNF488 ZNF843 NR2F2 PRDM6 FRMD4A NUTF2P5 ENSG00000234091
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FRMD4A on UCSC Golden Path with GeneCards custom track

Genomic Location for FRMD4A Gene

13,643,706 bp from pter
14,462,142 bp from pter
818,437 bases
Minus strand

Genomic View for FRMD4A Gene

Genes around FRMD4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRMD4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRMD4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRMD4A Gene

Proteins for FRMD4A Gene

  • Protein details for FRMD4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    FERM domain-containing protein 4A
    Protein Accession:
    Secondary Accessions:
    • A7E2Y3
    • Q5T377

    Protein attributes for FRMD4A Gene

    1039 amino acids
    Molecular mass:
    115458 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA92532.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for FRMD4A Gene

Post-translational modifications for FRMD4A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FRMD4A Gene

Domains & Families for FRMD4A Gene

Gene Families for FRMD4A Gene

Suggested Antigen Peptide Sequences for FRMD4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FRMD4A: view

No data available for UniProtKB/Swiss-Prot for FRMD4A Gene

Function for FRMD4A Gene

Gene Ontology (GO) - Molecular Function for FRMD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030674 protein binding, bridging IEA --
genes like me logo Genes that share ontologies with FRMD4A: view
genes like me logo Genes that share phenotypes with FRMD4A: view

Animal Model Products

CRISPR Products

miRNA for FRMD4A Gene

miRTarBase miRNAs that target FRMD4A

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FRMD4A Gene

Localization for FRMD4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRMD4A Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

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 FRMD4A gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for FRMD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005923 bicellular tight junction IEA --
genes like me logo Genes that share ontologies with FRMD4A: view

Pathways & Interactions for FRMD4A Gene

SuperPathways for FRMD4A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FRMD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090162 establishment of epithelial cell polarity IEA --
genes like me logo Genes that share ontologies with FRMD4A: view

No data available for Pathways by source and SIGNOR curated interactions for FRMD4A Gene

Drugs & Compounds for FRMD4A Gene

No Compound Related Data Available

Transcripts for FRMD4A Gene

mRNA/cDNA for FRMD4A Gene

Unigene Clusters for FRMD4A Gene

FERM domain containing 4A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FRMD4A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: -
SP5: -
SP10: - - - -
SP11: - -
SP14: - -

ExUns: 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c · 24d ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33a · 33b · 33c ^ 34 ^ 35
SP1: - - - -
SP2: - -
SP5: - -
SP6: - -
SP9: -
SP12: -

Relevant External Links for FRMD4A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FRMD4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FRMD4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FRMD4A Gene

This gene is overexpressed in Heart (46.9) and Fetal Brain (14.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FRMD4A Gene

Protein tissue co-expression partners for FRMD4A Gene

NURSA nuclear receptor signaling pathways regulating expression of FRMD4A Gene:


SOURCE GeneReport for Unigene cluster for FRMD4A Gene:


Evidence on tissue expression from TISSUES for FRMD4A Gene

  • Nervous system(4.7)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with FRMD4A: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRMD4A Gene

Orthologs for FRMD4A Gene

This gene was present in the common ancestor of animals.

Orthologs for FRMD4A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FRMD4A 34 35
  • 99.61 (n)
(Monodelphis domestica)
Mammalia FRMD4A 35
  • 93 (a)
(Canis familiaris)
Mammalia FRMD4A 34 35
  • 92.67 (n)
(Bos Taurus)
Mammalia FRMD4A 34 35
  • 89.81 (n)
(Mus musculus)
Mammalia Frmd4a 34 16 35
  • 89.42 (n)
(Rattus norvegicus)
Mammalia Frmd4a 34
  • 88.74 (n)
(Ornithorhynchus anatinus)
Mammalia FRMD4A 35
  • 82 (a)
(Gallus gallus)
Aves FRMD4A 35
  • 94 (a)
LOC419035 34
  • 83.63 (n)
(Anolis carolinensis)
Reptilia FRMD4A 35
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia frmd4a 34
  • 76.08 (n)
Str.4039 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.9210 34
(Danio rerio)
Actinopterygii FRMD4A 35
  • 81 (a)
si:ch211-220f12.1 34
  • 74.5 (n)
(Caenorhabditis elegans)
Secernentea F07C6.4 35
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
Species where no ortholog for FRMD4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 FRMD4A Gene

Gene Tree for FRMD4A (if available)
Gene Tree for FRMD4A (if available)

Paralogs for FRMD4A Gene

Paralogs for FRMD4A Gene

(4) SIMAP similar genes for FRMD4A Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with FRMD4A: view

Variants for FRMD4A Gene

Sequence variations from dbSNP and Humsavar for FRMD4A Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs869025338 Pathogenic 13,657,442(-) CCAGG(-/CTGGAGTCCCAGG)GCAAG reference, frameshift-variant
rs1000002108 -- 14,034,533(+) TGAAG(C/T)TTCCA intron-variant
rs1000015567 -- 13,725,605(+) TGGGC(C/T)TCAAC intron-variant
rs1000016771 -- 14,202,560(+) CACCC(C/T)CGGCT intron-variant
rs1000020842 -- 13,932,169(+) AGAAG(A/C)AATAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FRMD4A Gene

Variant ID Type Subtype PubMed ID
dgv121e199 CNV deletion 23128226
dgv677n100 CNV gain 25217958
esv1329436 CNV deletion 17803354
esv25190 CNV gain 19812545
esv26313 CNV gain 19812545
esv2653994 CNV deletion 19546169
esv2657983 CNV deletion 23128226
esv2663852 CNV deletion 23128226
esv2674085 CNV deletion 23128226
esv2733428 CNV deletion 23290073
esv275072 CNV gain+loss 21479260
esv2759734 CNV loss 17122850
esv2761575 CNV gain 21179565
esv32672 CNV gain 17666407
esv3302943 CNV tandem duplication 20981092
esv33167 CNV loss 17666407
esv3378758 CNV insertion 20981092
esv3450764 CNV insertion 20981092
esv3545936 CNV deletion 23714750
esv3578646 CNV loss 25503493
esv3578647 CNV loss 25503493
esv3622406 CNV loss 21293372
esv3622407 CNV loss 21293372
esv3622408 CNV loss 21293372
esv3622409 CNV loss 21293372
esv3622410 CNV loss 21293372
esv3622411 CNV loss 21293372
esv3622412 CNV gain 21293372
esv3622414 CNV loss 21293372
esv3622415 CNV loss 21293372
esv3622416 CNV loss 21293372
esv3622417 CNV loss 21293372
esv3622418 CNV loss 21293372
esv3622419 CNV loss 21293372
esv3891761 CNV gain 25118596
esv988013 CNV insertion 20482838
nsv1068282 CNV deletion 25765185
nsv1068283 CNV deletion 25765185
nsv1113252 CNV deletion 24896259
nsv1113253 CNV deletion 24896259
nsv1122494 CNV deletion 24896259
nsv1137879 CNV deletion 24896259
nsv473658 CNV novel sequence insertion 20440878
nsv474358 CNV novel sequence insertion 20440878
nsv475185 CNV novel sequence insertion 20440878
nsv507541 OTHER sequence alteration 20534489
nsv508569 CNV deletion 20534489
nsv512149 CNV loss 21212237
nsv516253 CNV loss 19592680
nsv516579 CNV loss 19592680
nsv528027 CNV gain 19592680
nsv549996 CNV gain 21841781
nsv5842 CNV deletion 18451855
nsv5855 CNV deletion 18451855
nsv831789 CNV gain+loss 17160897
nsv831790 CNV loss 17160897

Variation tolerance for FRMD4A Gene

Residual Variation Intolerance Score: 2.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.23; 62.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FRMD4A Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRMD4A Gene

Disorders for FRMD4A Gene

MalaCards: The human disease database

(4) MalaCards diseases for FRMD4A Gene - From: Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia (CCAFCA) [MIM:616819]: An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment. {ECO:0000269 PubMed:25388005}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FRMD4A

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FRMD4A: view

No data available for Genatlas for FRMD4A Gene

Publications for FRMD4A Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
  2. A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A. (PMID: 25388005) Fine D. … Birk O.S. (Eur. J. Hum. Genet. 2014) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. (PMID: 20031603) Marroni F. … Pramstaller P.P. (Circ Cardiovasc Genet 2009) 3 46 64
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64

Products for FRMD4A Gene

Sources for FRMD4A Gene

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