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 di... See more...

Aliases for FRMD3 Gene

Aliases for FRMD3 Gene

  • FERM Domain Containing 3 2 3 5
  • FERM Domain-Containing Protein 3 3 4
  • Band 4.1-Like Protein 4O 3 4
  • Ovary Type Protein 4.1 3 4
  • EPB41L4O 3 4
  • 4.1O 3 4
  • 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 Summary 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 , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J083537 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 +0.6 645 3 ZNF785 CTCF ZBTB6 RBPJ POLR2A RAD21 MNT ZSCAN21 SP5 KAT8 FRMD3 RF01210-397 RF00017-7660
GH09J083266 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 750.1 +271.6 271557 2.4 HLF ELF3 CEBPG ZNF644 GATAD2A TGIF2 SAP130 TFDP1 ZNF792 TEAD1 FRMD3 piR-50308-650 piR-38051-296 LOC102723989
GH09J083663 Promoter 0.3 EPDnew 750.1 -125.5 -125469 0.1 FRMD3 UBQLN1 ENSG00000254473 IDNK lnc-GKAP1-1 piR-44878-060 RF00017-7660
GH09J083431 Enhancer 1 Ensembl ENCODE 20.2 +105.1 105145 5.6 FOXA1 TCF7L2 NR2F1 NR2F6 ZNF217 HLF RAD21 MNT NFIB SP1 FRMD3 RF00017-7661 piR-31937-252 RF00017-7660
GH09J083470 Enhancer 0.9 ENCODE 17.4 +65.7 65727 3.7 MLX RBPJ NR2F1 NR2F6 ATF1 CREB1 MIXL1 NFYC HLF SREBF1 FRMD3 RF01210-397 RF00017-7660
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRMD3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FRMD3 gene promoter:
  • ATF-2
  • CRE-BP1
  • CREB
  • E2F
  • E2F-1
  • HEN1
  • Spz1
  • USF-1
  • USF1
  • ZID

Genomic Locations for FRMD3 Gene

Genomic Locations for FRMD3 Gene
chr9:83,242,990-83,538,546
(GRCh38/hg38)
Size:
295,557 bases
Orientation:
Minus strand
chr9:85,857,905-86,153,461
(GRCh37/hg19)
Size:
295,557 bases
Orientation:
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:
    A2A2Y4-FRMD3_HUMAN
    Recommended name:
    FERM domain-containing protein 3
    Protein Accession:
    A2A2Y4
    Secondary Accessions:
    • A8MQB0
    • B4DN14
    • Q53EP2
    • Q5JV59
    • Q5VZA1
    • Q86WP8
    • Q8IZ44
    • Q8N3Y5
    • Q8N9L2

    Protein attributes for FRMD3 Gene

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

    Alternative splice isoforms for FRMD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FRMD3 Gene

Post-translational modifications for FRMD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FRMD3 Gene

Domains & Families for FRMD3 Gene

Gene Families for FRMD3 Gene

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

Suggested Antigen Peptide Sequences for FRMD3 Gene

GenScript: Design optimal peptide antigens:
  • Ovary type protein 4.1 (FRMD3_HUMAN)
  • FERM domain containing 3 (Q5JV61_HUMAN)
genes like me logo Genes that share domains with FRMD3: view

No data available for Graphical View of Domain Structure and 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:0008092 cytoskeletal protein binding IEA --
genes like me logo Genes that share ontologies with FRMD3: view
genes like me logo Genes that share phenotypes with FRMD3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRMD3

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

COMPARTMENTS
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 2
cytosol 2
mitochondrion 1
nucleus 1
plasma membrane 0

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 IEA --
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

PathCards logo

SuperPathways for FRMD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FRMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031032 actomyosin structure organization IBA 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRMD3

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
FRMD3
ECgene alternative splicing isoforms for
FRMD3

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:

FRMD3

SOURCE GeneReport for Unigene cluster for FRMD3 Gene:

Hs.127535

mRNA Expression by UniProt/SwissProt for FRMD3 Gene:

A2A2Y4-FRMD3_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia FRMD3 33
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FRMD3 33 32
  • 93.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FRMD3 33
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FRMD3 33
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Frmd3 17 33 32
  • 89.41 (n)
rat
(Rattus norvegicus)
Mammalia Frmd3 32
  • 87.63 (n)
chicken
(Gallus gallus)
Aves FRMD3 33 32
  • 81.05 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FRMD3 33
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmd3 32
  • 74.2 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100331256 32
  • 66.84 (n)
frmd3 33
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5022 33
  • 27 (a)
OneToMany
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

ENSEMBL:
Gene Tree for FRMD3 (if available)
TreeFam:
Gene Tree for FRMD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FRMD3: view image

Paralogs for FRMD3 Gene

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

  • FRMD3_HUMAN
  • Q5JV61_HUMAN
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, upstream_transcript_variant

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

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

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)
FRMD3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRMD3

SNP Genotyping and Copy Number Assay Products

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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 56
  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 43 56
  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 43 56
  4. Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes. (PMID: 19252134) Pezzolesi MG … Krolewski AS (Diabetes 2009) 3 43 56
  5. FRMD3, a novel putative tumour suppressor in NSCLC. (PMID: 17260017) Haase D … Angel P (Oncogene 2007) 3 4 56

Products for FRMD3 Gene

Sources for FRMD3 Gene