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Aliases for FRMD3 Gene

Aliases for FRMD3 Gene

  • FERM Domain Containing 3 2 3 5
  • Band 4.1-Like Protein 4O 3 4
  • Ovary Type Protein 4.1 3 4
  • EPB41L4O 3 4
  • 4.1O 3 4
  • FERM Domain-Containing Protein 3 3
  • Band 4.1-Like Protein 4 3
  • Protein 4.1O 3
  • EPB41LO 3
  • P410 3

External Ids for FRMD3 Gene

Previous GeneCards Identifiers for FRMD3 Gene

  • GC09M081315
  • GC09M083087
  • GC09M085047
  • GC09M085857
  • GC09M055687

Summaries for FRMD3 Gene

Entrez Gene Summary for FRMD3 Gene

  • The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for FRMD3 Gene

FRMD3 (FERM Domain Containing 3) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include cytoskeletal protein binding. An important paralog of this gene is FRMD5.

UniProtKB/Swiss-Prot for FRMD3 Gene

  • Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer.

Additional gene information for FRMD3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRMD3 Gene

Genomics for FRMD3 Gene

GeneHancer (GH) Regulatory Elements for FRMD3 Gene

Promoters and enhancers for FRMD3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I083537 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.1 78 1.7 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 GLIS2 SP3 SP5 MXD4 FRMD3 GC09M083513 PIR58953
GH09I083266 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 550.1 +271.4 271393 2 ELF3 ZNF792 SAP130 JUN ARID4B ZNF644 ZNF48 RARA TEAD3 NR2F6 GC09P083268 FRMD3 LOC102723989 ENSG00000229109
GH09I083467 Promoter 0.5 EPDnew 550.2 +70.8 70790 0.1 FRMD3 GC09M083455 GC09M083513 PIR58953
GH09I083470 Enhancer 1.1 Ensembl ENCODE 17.4 +65.9 65923 4 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 SLC30A9 ATF7 SP5 NFYC FRMD3 GC09M083455 PIR58953 GC09M083513
GH09I083219 Promoter/Enhancer 1.3 Ensembl ENCODE 6.5 +318.0 318009 3.1 ELF3 ZFP64 ARID4B SIN3A BMI1 BATF IRF4 DNMT3B RAD21 YY1 ENSG00000229109 LOC102723989 FRMD3 GC09P083268
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FRMD3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FRMD3 gene promoter:

Genomic Locations for FRMD3 Gene

Genomic Locations for FRMD3 Gene
295,557 bases
Minus strand

Genomic View for FRMD3 Gene

Genes around FRMD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRMD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRMD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRMD3 Gene

Proteins for FRMD3 Gene

  • Protein details for FRMD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    FERM domain-containing protein 3
    Protein Accession:
    Secondary Accessions:
    • A8MQB0
    • B4DN14
    • Q53EP2
    • Q5JV59
    • Q5VZA1
    • Q86WP8
    • Q8IZ44
    • Q8N3Y5
    • Q8N9L2

    Protein attributes for FRMD3 Gene

    597 amino acids
    Molecular mass:
    68772 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC04321.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW62650.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FRMD3 Gene


neXtProt entry for FRMD3 Gene

Post-translational modifications for FRMD3 Gene

No Post-translational modifications

No data available for DME Specific Peptides for FRMD3 Gene

Domains & Families for FRMD3 Gene

Gene Families for FRMD3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for FRMD3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FRMD3: view

No data available for UniProtKB/Swiss-Prot for FRMD3 Gene

Function for FRMD3 Gene

Molecular function for FRMD3 Gene

UniProtKB/Swiss-Prot Function:
Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer.

Phenotypes From GWAS Catalog for FRMD3 Gene

Gene Ontology (GO) - Molecular Function for FRMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton IBA --
GO:0008092 cytoskeletal protein binding IEA --
genes like me logo Genes that share ontologies with FRMD3: view

Phenotypes for FRMD3 Gene

genes like me logo Genes that share phenotypes with FRMD3: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FRMD3 Gene

Localization for FRMD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRMD3 Gene

Membrane; Single-pass membrane protein.

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 FRMD3 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
mitochondrion 2
plasma membrane 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FRMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FRMD3: view

Pathways & Interactions for FRMD3 Gene

SuperPathways for FRMD3 Gene

No Data Available

Interacting Proteins for FRMD3 Gene

Gene Ontology (GO) - Biological Process for FRMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031032 actomyosin structure organization IBA --
genes like me logo Genes that share ontologies with FRMD3: view

No data available for Pathways by source and SIGNOR curated interactions for FRMD3 Gene

Drugs & Compounds for FRMD3 Gene

No Compound Related Data Available

Transcripts for FRMD3 Gene

Unigene Clusters for FRMD3 Gene

FERM domain containing 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FRMD3 Gene

No ASD Table

Relevant External Links for FRMD3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FRMD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FRMD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FRMD3 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.8) and Muscle - Skeletal (x4.4).

Protein differential expression in normal tissues from HIPED for FRMD3 Gene

This gene is overexpressed in Retina (48.2) and Placenta (20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FRMD3 Gene

Protein tissue co-expression partners for FRMD3 Gene

NURSA nuclear receptor signaling pathways regulating expression of FRMD3 Gene:


SOURCE GeneReport for Unigene cluster for FRMD3 Gene:


mRNA Expression by UniProt/SwissProt for FRMD3 Gene:

Tissue specificity: Ovary-specific.

Evidence on tissue expression from TISSUES for FRMD3 Gene

  • Nervous system(4.4)
  • Kidney(4.3)
genes like me logo Genes that share expression patterns with FRMD3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FRMD3 Gene

Orthologs for FRMD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for FRMD3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FRMD3 34
  • 100 (a)
(Canis familiaris)
Mammalia FRMD3 33 34
  • 93.64 (n)
(Bos Taurus)
Mammalia FRMD3 34
  • 93 (a)
(Monodelphis domestica)
Mammalia FRMD3 34
  • 90 (a)
(Mus musculus)
Mammalia Frmd3 33 16 34
  • 89.41 (n)
(Rattus norvegicus)
Mammalia Frmd3 33
  • 87.63 (n)
(Gallus gallus)
Aves FRMD3 33 34
  • 81.05 (n)
(Anolis carolinensis)
Reptilia FRMD3 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia frmd3 33
  • 74.2 (n)
(Danio rerio)
Actinopterygii LOC100331256 33
  • 66.84 (n)
frmd3 34
  • 61 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5022 34
  • 27 (a)
Species where no ortholog for FRMD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for FRMD3 Gene

Gene Tree for FRMD3 (if available)
Gene Tree for FRMD3 (if available)

Paralogs for FRMD3 Gene

(10) SIMAP similar genes for FRMD3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FRMD3: view

Variants for FRMD3 Gene

Sequence variations from dbSNP and Humsavar for FRMD3 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000014571 -- 83,498,251(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000028099 -- 83,344,954(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000037327 -- 83,307,830(-) A/G/T genic_upstream_transcript_variant, intron_variant
rs1000049751 -- 83,286,588(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000050735 -- 83,475,857(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FRMD3 Gene

Variant ID Type Subtype PubMed ID
nsv6589 CNV insertion 18451855
nsv6588 CNV insertion 18451855
nsv6586 CNV deletion 18451855
nsv474334 CNV novel sequence insertion 20440878
nsv1048086 CNV loss 25217958
esv3620899 CNV loss 21293372
esv3620898 CNV loss 21293372
esv3620896 CNV gain 21293372
esv2738667 CNV deletion 23290073
esv2664232 CNV deletion 23128226
esv1005171 CNV insertion 20482838
dgv1355e199 CNV deletion 23128226

Variation tolerance for FRMD3 Gene

Residual Variation Intolerance Score: 19.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.37; 63.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRMD3 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 FRMD3 Gene

Disorders for FRMD3 Gene

Additional Disease Information for FRMD3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FRMD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRMD3 Gene

Publications for FRMD3 Gene

  1. Molecular cloning and characterization of the protein 4.1O gene, a novel member of the protein 4.1 family with focal expression in ovary. (PMID: 12601556) Ni X … Mao Y (Journal of human genetics 2003) 2 3 4 22 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Replication study for the association between four Loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes. (PMID: 20460425) Maeda S … Nakamura Y (Diabetes 2010) 3 44 58
  4. Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes. (PMID: 19252134) Pezzolesi MG … Krolewski AS (Diabetes 2009) 3 44 58
  5. FRMD3, a novel putative tumour suppressor in NSCLC. (PMID: 17260017) Haase D … Angel P (Oncogene 2007) 3 4 58

Products for FRMD3 Gene

Sources for FRMD3 Gene

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