Aliases for FRMD6 Gene

Aliases for FRMD6 Gene

  • FERM Domain Containing 6 2 3 5
  • Willin 2 3 4
  • FERM Domain-Containing Protein 6 3 4
  • Expanded Homolog 2 3
  • C14orf31 3 4
  • EX1 2 3
  • 4.1 Ezrin Radixin Moesin (FERM)-Containing Protein 3
  • Chromosome 14 Open Reading Frame 31 2
  • C14_5320 3
  • MGC17921 2
  • FRMD6 5

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. Diseases associated with FRMD6 include Syndromic X-Linked Intellectual Disability Type 10 and Wilson-Turner X-Linked Mental Retardation Syndrome. Among its related pathways are Cytoskeletal Signaling and Hippo signaling pathway. An important paralog of this gene is EPB41L3.

Gene Wiki entry for FRMD6 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FRMD6 Gene

Genomics for FRMD6 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH14J051648 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 256.3 +163.7 163701 8 SP1 ZNF207 ZNF600 SIX5 JUND BRCA1 POLR2A ZIC2 ZBTB10 MXD4 FRMD6 FRMD6-AS1 GNG2 RNU6-301P RF00001-104 RNA5SP385 lnc-FRMD6-2
GH14J051552 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 250.2 +65.2 65180 3.9 NFIC CTCF PRDM1 RXRA RAD21 SMC3 JUND HNF4A NFIB CHD1 FRMD6 RNU6-1291P FRMD6-AS2 lnc-FRMD6-2 GNG2
GH14J051487 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 250.7 +0.9 928 4.6 SPI1 CREB1 CEBPB FRMD6 lnc-FRMD6-2 RNU6-1291P FRMD6-AS2 GNG2
GH14J051096 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 24.9 -395.6 -395599 5.8 SP1 ZNF600 JUND ZSCAN16 ZIC2 ZBTB10 CTCF FEZF1 ZNF341 ZEB1 TRIM9 FRMD6 ENSG00000259055 TMX1 PYGL
GH14J050665 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 -821.1 -821063 6.1 BCLAF1 ZNF600 NCOR1 IKZF1 ZNF592 ATF2 POLR2A ZNF10 JUND ZIC2 SAV1 HSALNG0101199 lnc-ATL1-8 KLHDC2 KLHDC1 NEMF FRMD6 MAP4K5 CDKL1 lnc-NIN-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRMD6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FRMD6

Top Transcription factor binding sites by QIAGEN in the FRMD6 gene promoter:
  • CUTL1
  • GR
  • GR-alpha
  • GR-beta
  • NF-1
  • NF-1/L
  • POU2F1
  • RSRFC4
  • Sox5

Genomic Locations for FRMD6 Gene

Latest Assembly
chr14:51,489,100-51,730,727
(GRCh38/hg38)
Size:
241,628 bases
Orientation:
Plus strand

Previous Assembly
chr14:51,955,846-52,197,445
(GRCh37/hg19 by Entrez Gene)
Size:
241,600 bases
Orientation:
Plus strand

chr14:51,955,818-52,197,445
(GRCh37/hg19 by Ensembl)
Size:
241,628 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:
  • Willin (FRMD6_HUMAN)
genes like me logo Genes that share domains with FRMD6: view

No data available for Graphical View of Domain Structure and 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:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with FRMD6: view
genes like me logo Genes that share phenotypes with FRMD6: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 4
cytoskeleton 4
mitochondrion 3
nucleus 3
cytosol 3
extracellular 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

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 21873635
GO:0005886 plasma membrane IEA --
GO:0016020 membrane 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:0031032 actomyosin structure organization IBA 21873635
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

mRNA/cDNA for FRMD6 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

Expression for FRMD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for FRMD6 Gene



Protein tissue co-expression partners for FRMD6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FRMD6

SOURCE GeneReport for Unigene cluster for FRMD6 Gene:

Hs.434914

Evidence on tissue expression from TISSUES for FRMD6 Gene

  • Skin(4.7)
  • Nervous system(4.6)
  • Liver(4.4)
  • Intestine(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with FRMD6: view

Primer products for research

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 29 30
  • 99.84 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FRMD6 30
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia FRMD6 29 30
  • 93.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FRMD6 29 30
  • 92.71 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FRMD6 30
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Frmd6 29 16 30
  • 86.23 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Frmd6 29
  • 85.94 (n)
Chicken
(Gallus gallus)
Aves FRMD6 29 30
  • 78.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FRMD6 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia frmd6 29
  • 78.42 (n)
Zebrafish
(Danio rerio)
Actinopterygii frmd6 29 30
  • 69.45 (n)
OneToOne
wufb38g08 29
Fruit Fly
(Drosophila melanogaster)
Insecta ex 30
  • 10 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea frm-7 30
  • 13 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 25 (a)
OneToMany
Species where no ortholog for FRMD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FRMD6: view image
Alliance of Genome Resources:
Additional Orthologs for FRMD6

Paralogs for FRMD6 Gene

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

  • FRMD6_HUMAN
  • G3V2L4_HUMAN
  • G3V3V8_HUMAN
  • G3V4T7_HUMAN
  • G3V517_HUMAN
  • H0YJ19_HUMAN
  • H0YJC1_HUMAN

Pseudogenes.org Pseudogenes for FRMD6 Gene

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

Variants for FRMD6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FRMD6 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs111643867 Benign: not provided 51,720,077(+) T/C
NM_001267046.2(FRMD6):c.1047T>C (p.Ser349=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs1594776702 Likely Benign: not provided 51,715,486(+) G/C
NM_001267046.2(FRMD6):c.1011G>C (p.Leu337=)
SYNONYMOUS
rs78316801 Benign: not provided 51,722,052(+) C/T
NM_001267046.2(FRMD6):c.1464C>T (p.Leu488=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FRMD6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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
Leiden Open Variation Database (LOVD)
FRMD6

SNP Genotyping and Copy Number Assays for research

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

Disorders for FRMD6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FRMD6 Gene - From: COP

Disorder Aliases PubMed IDs
syndromic x-linked intellectual disability type 10
  • hsd10 deficiency, atypical type
wilson-turner x-linked mental retardation syndrome
  • wts
- elite association - COSMIC cancer census association via MalaCards
Search FRMD6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FRMD6

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

No data available for 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
  2. A genome-wide association study of the Protein C anticoagulant pathway. (PMID: 22216198) Athanasiadis G … Soria JM (PloS one 2011) 3 40
  3. Voxelwise genome-wide association study (vGWAS). (PMID: 20171287) Stein JL … Alzheimer's Disease Neuroimaging Initiative (NeuroImage 2010) 3 40
  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 40
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for FRMD6 Gene

Sources for FRMD6 Gene