Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FRMD6 Gene

Aliases for FRMD6 Gene

  • FERM Domain Containing 6 2 3 5
  • Expanded Homolog 2 3
  • C14orf31 3 4
  • Willin 3 4
  • 4.1 Ezrin Radixin Moesin (FERM)-Containing Protein 3
  • Chromosome 14 Open Reading Frame 31 2
  • FERM Domain-Containing Protein 6 3
  • C14_5320 3
  • EX1 3

External Ids for FRMD6 Gene

Previous HGNC Symbols for FRMD6 Gene

  • C14orf31

Previous GeneCards Identifiers for FRMD6 Gene

  • GC14P051026
  • GC14P051955
  • GC14P032116

Summaries for FRMD6 Gene

GeneCards Summary for FRMD6 Gene

FRMD6 (FERM Domain Containing 6) is a Protein Coding gene. Among its related pathways are Hippo signaling pathway - multiple species and Hippo signaling pathway. An important paralog of this gene is FRMD1.

Gene Wiki entry for FRMD6 Gene

Additional gene information for FRMD6 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRMD6 Gene

Genomics for FRMD6 Gene

GeneHancer (GH) Regulatory Elements for FRMD6 Gene

Promoters and enhancers for FRMD6 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
GH14I051649 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.3 +163.8 163830 6.6 ARID4B SIN3A GLI4 BRCA1 ZNF48 GLIS2 ZNF213 ZNF207 ZNF143 ATF7 FRMD6 FRMD6-AS1 TMX1 GNG2 RNU6-301P RNA5SP385
GH14I051487 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 550.8 +0.9 928 4.6 CREB1 SPI1 FRMD6 RNU6-1291P FRMD6-AS2
GH14I051717 Promoter 0.5 EPDnew 550.1 +228.1 228136 0.1 FRMD6 GC14P051725 RNA5SP385
GH14I052067 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 10.9 +580.2 580186 3.6 MZF1 RFX5 ZNF335 ZNF121 GLIS2 ZNF391 EGR2 ZNF202 NFYC REST NID2 LOC105378180 FRMD6 GNPNAT1
GH14I051581 Enhancer 1.3 Ensembl ENCODE dbSUPER 16.6 +92.7 92681 1.5 PKNOX1 FEZF1 ZNF2 ZNF213 ZNF302 KLF7 FOS KLF13 REST TSHZ1 FRMD6 TMX1 RNU6-1291P PTGER2 FRMD6-AS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FRMD6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FRMD6 gene promoter:

Genomic Locations for FRMD6 Gene

Genomic Locations for FRMD6 Gene
chr14:51,489,100-51,730,727
(GRCh38/hg38)
Size:
241,628 bases
Orientation:
Plus strand
chr14:51,955,818-52,197,445
(GRCh37/hg19)

Genomic View for FRMD6 Gene

Genes around FRMD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRMD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRMD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRMD6 Gene

Proteins for FRMD6 Gene

  • Protein details for FRMD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NE9-FRMD6_HUMAN
    Recommended name:
    FERM domain-containing protein 6
    Protein Accession:
    Q96NE9
    Secondary Accessions:
    • D3DSB9
    • Q5HYF2
    • Q8N2X1
    • Q8WUH7

    Protein attributes for FRMD6 Gene

    Size:
    622 amino acids
    Molecular mass:
    72044 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FRMD6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FRMD6 Gene

Post-translational modifications for FRMD6 Gene

No Post-translational modifications

No data available for DME Specific Peptides for FRMD6 Gene

Domains & Families for FRMD6 Gene

Gene Families for FRMD6 Gene

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

Suggested Antigen Peptide Sequences for FRMD6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FRMD6: view

No data available for UniProtKB/Swiss-Prot for FRMD6 Gene

Function for FRMD6 Gene

Phenotypes From GWAS Catalog for FRMD6 Gene

Gene Ontology (GO) - Molecular Function for FRMD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton IBA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FRMD6: view

Phenotypes for FRMD6 Gene

GenomeRNAi human phenotypes for FRMD6:
genes like me logo Genes that share phenotypes with FRMD6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FRMD6

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FRMD6 Gene

Localization for FRMD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRMD6 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Can colocalize with actin.

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 FRMD6 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 3
mitochondrion 3
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FRMD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IBA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0043296 apical junction complex IEA --
genes like me logo Genes that share ontologies with FRMD6: view

Pathways & Interactions for FRMD6 Gene

genes like me logo Genes that share pathways with FRMD6: view

Pathways by source for FRMD6 Gene

2 Cell Signaling Technology pathways for FRMD6 Gene

Gene Ontology (GO) - Biological Process for FRMD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003383 apical constriction IEA --
GO:0031032 actomyosin structure organization IBA --
GO:0032970 regulation of actin filament-based process IEA --
GO:0034613 cellular protein localization IEA --
genes like me logo Genes that share ontologies with FRMD6: view

No data available for SIGNOR curated interactions for FRMD6 Gene

Drugs & Compounds for FRMD6 Gene

No Compound Related Data Available

Transcripts for FRMD6 Gene

Unigene Clusters for FRMD6 Gene

FERM domain containing 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FRMD6

Alternative Splicing Database (ASD) splice patterns (SP) for FRMD6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - -
SP4: - - -
SP5: - -
SP6: - - -
SP7:
SP8:
SP9: -
SP10:
SP11: -
SP12:
SP13:
SP14: - - - - - - - -

ExUns: 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b · 19c
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5:
SP6:
SP7: - - -
SP8: -
SP9:
SP10:
SP11: - -
SP12: -
SP13:
SP14:

Relevant External Links for FRMD6 Gene

GeneLoc Exon Structure for
FRMD6
ECgene alternative splicing isoforms for
FRMD6

Expression for FRMD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FRMD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FRMD6 Gene

This gene is overexpressed in Breast (43.1) and Bone (21.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FRMD6 Gene



Protein tissue co-expression partners for FRMD6 Gene

NURSA nuclear receptor signaling pathways regulating expression of FRMD6 Gene:

FRMD6

SOURCE GeneReport for Unigene cluster for FRMD6 Gene:

Hs.434914

Evidence on tissue expression from TISSUES for FRMD6 Gene

  • Skin(4.6)
  • Nervous system(4.5)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with FRMD6: 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 FRMD6 Gene

Orthologs for FRMD6 Gene

This gene was present in the common ancestor of animals.

Orthologs for FRMD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FRMD6 33 34
  • 99.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FRMD6 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FRMD6 33 34
  • 93.57 (n)
cow
(Bos Taurus)
Mammalia FRMD6 33 34
  • 92.71 (n)
oppossum
(Monodelphis domestica)
Mammalia FRMD6 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Frmd6 33 16 34
  • 86.23 (n)
rat
(Rattus norvegicus)
Mammalia Frmd6 33
  • 85.94 (n)
chicken
(Gallus gallus)
Aves FRMD6 33 34
  • 78.32 (n)
lizard
(Anolis carolinensis)
Reptilia FRMD6 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmd6 33
  • 78.42 (n)
zebrafish
(Danio rerio)
Actinopterygii frmd6 33 34
  • 69.45 (n)
wufb38g08 33
fruit fly
(Drosophila melanogaster)
Insecta ex 34
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-7 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToMany
Species where no ortholog for FRMD6 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)
  • 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 FRMD6 Gene

ENSEMBL:
Gene Tree for FRMD6 (if available)
TreeFam:
Gene Tree for FRMD6 (if available)

Paralogs for FRMD6 Gene

Paralogs for FRMD6 Gene

(4) SIMAP similar genes for FRMD6 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for FRMD6 Gene

genes like me logo Genes that share paralogs with FRMD6: view

Variants for FRMD6 Gene

Sequence variations from dbSNP and Humsavar for FRMD6 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000000014 -- 51,682,369(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000003253 -- 51,552,236(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000023674 -- 51,706,154(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000047014 -- 51,585,980(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000054141 -- 51,715,003(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FRMD6 Gene

Variant ID Type Subtype PubMed ID
nsv983823 CNV duplication 23825009
nsv974339 CNV duplication 23825009
nsv952839 CNV duplication 24416366
nsv528274 CNV loss 19592680
nsv528065 CNV loss 19592680
nsv526899 CNV loss 19592680
nsv1277 CNV insertion 18451855
nsv1131139 CNV deletion 24896259
nsv1075864 CNV duplication 25765185
esv3892545 CNV loss 25118596
esv3634504 CNV loss 21293372
esv3581200 CNV loss 25503493
esv2672342 CNV deletion 23128226
esv2658618 CNV deletion 23128226
esv1010904 CNV deletion 20482838

Variation tolerance for FRMD6 Gene

Residual Variation Intolerance Score: 38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRMD6 Gene

Human Gene Mutation Database (HGMD)
FRMD6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRMD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRMD6 Gene

Disorders for FRMD6 Gene

Additional Disease Information for FRMD6

No disorders were found for FRMD6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRMD6 Gene

Publications for FRMD6 Gene

  1. A novel 4.1 ezrin radixin moesin (FERM)-containing protein, 'Willin'. (PMID: 16137681) Gunn-Moore FJ … Guild S (FEBS letters 2005) 3 4 22 58
  2. A genome-wide association study of the Protein C anticoagulant pathway. (PMID: 22216198) Athanasiadis G … Soria JM (PloS one 2011) 3 44 58
  3. Voxelwise genome-wide association study (vGWAS). (PMID: 20171287) Stein JL … Alzheimer's Disease Neuroimaging Initiative (NeuroImage 2010) 3 44 58
  4. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. (PMID: 19668339) Potkin SG … Alzheimer's Disease Neuroimaging Initiative (PloS one 2009) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for FRMD6 Gene

  • Addgene plasmids for FRMD6

Sources for FRMD6 Gene

Content
Loading form....