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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
  • 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 communicating hydrocephalus and alzheimer disease. GO annotations related to this gene include protein binding, bridging. An important paralog of this gene is C1orf106.

No data available for 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

Genomic Location for FRMD4A Gene

Chromosome:
10
Start:
13,643,706 bp from pter
End:
14,462,142 bp from pter
Size:
818,437 bases
Orientation:
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:
    Q9P2Q2-FRM4A_HUMAN
    Recommended name:
    FERM domain-containing protein 4A
    Protein Accession:
    Q9P2Q2
    Secondary Accessions:
    • A7E2Y3
    • Q5T377

    Protein attributes for FRMD4A Gene

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

neXtProt entry for FRMD4A Gene

Proteomics data for FRMD4A Gene at MOPED

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

Suggested Antigen Peptide Sequences for FRMD4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P2Q2

UniProtKB/Swiss-Prot:

FRM4A_HUMAN :
  • Contains 1 FERM domain.
Domain:
  • Contains 1 FERM domain.
genes like me logo Genes that share domains with FRMD4A: view

No data available for Gene Families for FRMD4A Gene

Function for FRMD4A Gene

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

Animal Model Products

miRNA for FRMD4A Gene

miRTarBase miRNAs that target FRMD4A

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for FRMD4A Gene COMPARTMENTS Subcellular localization image for FRMD4A gene
Compartment Confidence
cytoskeleton 3
cytosol 3
golgi apparatus 2
nucleus 2

Gene Ontology (GO) - Cellular Components for FRMD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm 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

None

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

(23) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FRMD4A Gene

FERM domain containing 4A:
Representative Sequences:

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: -
SP6:
SP7:
SP8:
SP9:
SP10: - - - -
SP11: - -
SP12:
SP13:
SP14: - -
SP15:
SP16:
SP17:

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: - -
SP3:
SP4:
SP5: - -
SP6: - -
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for FRMD4A Gene

GeneLoc Exon Structure for
FRMD4A
ECgene alternative splicing isoforms for
FRMD4A

Expression for FRMD4A Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for FRMD4A Gene



SOURCE GeneReport for Unigene cluster for FRMD4A Gene Hs.330463

genes like me logo Genes that share expression patterns with FRMD4A: view

Protein tissue co-expression partners for FRMD4A Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia FRMD4A 35
  • 89.81 (n)
  • 96.64 (a)
FRMD4A 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FRMD4A 35
  • 92.67 (n)
  • 97.86 (a)
FRMD4A 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Frmd4a 35
  • 89.42 (n)
  • 96.54 (a)
Frmd4a 16
Frmd4a 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FRMD4A 35
  • 99.61 (n)
  • 99.9 (a)
FRMD4A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Frmd4a 35
  • 88.74 (n)
  • 95.96 (a)
oppossum
(Monodelphis domestica)
Mammalia FRMD4A 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FRMD4A 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC419035 35
  • 83.63 (n)
  • 94.08 (a)
FRMD4A 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FRMD4A 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmd4a 35
  • 76.08 (n)
  • 88.61 (a)
Str.4039 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.9210 35
zebrafish
(Danio rerio)
Actinopterygii si:ch211-220f12.1 35
  • 74.5 (n)
  • 83.38 (a)
FRMD4A 36
  • 81 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F07C6.4 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for FRMD4A:
  • 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

ENSEMBL:
Gene Tree for FRMD4A (if available)
TreeFam:
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
rs11258565 - 13,737,877(+) TCATA(C/G)TGGAA reference, missense
rs3235 -- 13,907,609(-) TTCCT(C/T)GTCTG intron-variant
rs748830 -- 13,971,249(-) AATCC(A/G)CGCTC intron-variant
rs750620 -- 13,970,704(+) CTGCG(C/G)CCCCC intron-variant
rs750741 -- 13,963,988(+) CTGAT(A/C)ATTAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831789 CNV Gain+Loss 17160897
nsv831790 CNV Loss 17160897
dgv224e1 CNV Complex 17122850
esv988013 CNV Insertion 20482838
esv259917 OTHER Complex 20981092
esv25190 CNV Gain 19812545
nsv508569 CNV Loss 20534489
esv2653994 CNV Deletion 19546169
esv275072 CNV Gain+Loss 21479260
esv26313 CNV Gain 19812545
nsv516579 CNV Loss 19592680
esv32672 CNV Gain 17666407
nsv5842 CNV Loss 18451855
nsv528027 CNV Gain 19592680
nsv894887 CNV Loss 21882294
nsv516253 CNV Loss 19592680
dgv121e199 CNV Deletion 23128226
esv1329436 CNV Deletion 17803354
esv2663852 CNV Deletion 23128226
nsv5855 CNV Loss 18451855
nsv512149 CNV Loss 21212237
esv2657983 CNV Deletion 23128226
esv2733428 CNV Deletion 23290073
esv2674085 CNV Deletion 23128226
esv33167 CNV Loss 17666407
nsv507541 CNV Insertion 20534489

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

HapMap Linkage Disequilibrium report
FRMD4A
Human Gene Mutation Database (HGMD)
FRMD4A

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

Disorders for FRMD4A Gene

MalaCards: The human disease database

(2) MalaCards diseases for FRMD4A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
communicating hydrocephalus
  • communicating hydrocephalus [ambiguous]
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FRMD4A

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

No data available for UniProtKB/Swiss-Prot and 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Prenatal tobacco smoke exposure is associated with childhood DNA CpG methylation. (PMID: 24964093) Breton C.V. … Raby B. (PLoS ONE 2014) 3
  4. 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
  5. Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease. (PMID: 22430674) Lambert J.C. … Amouyel P. (Mol. Psychiatry 2013) 3

Products for FRMD4A Gene

Sources for FRMD4A Gene

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