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Aliases for FRMD5 Gene

Aliases for FRMD5 Gene

  • FERM Domain Containing 5 2 3 5

External Ids for FRMD5 Gene

Previous GeneCards Identifiers for FRMD5 Gene

  • GC15M041953
  • GC15M044162
  • GC15M020989

Summaries for FRMD5 Gene

GeneCards Summary for FRMD5 Gene

FRMD5 (FERM Domain Containing 5) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include cytoskeletal protein binding. An important paralog of this gene is FRMD3.

UniProtKB/Swiss-Prot for FRMD5 Gene

  • May be involved in regulation of cell migration (PubMed:22846708, PubMed:25448675). May regulate cell-matrix interactions via its interaction with ITGB5 and modifying ITGB5 cytoplasmic tail interactions such as with FERMT2 and TLN1. May regulate ROCK1 kinase activity possibly involved in regulation of actin stress fiber formation (PubMed:25448675).

Additional gene information for FRMD5 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRMD5 Gene

Genomics for FRMD5 Gene

GeneHancer (GH) Regulatory Elements for FRMD5 Gene

Promoters and enhancers for FRMD5 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
GH15I044192 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.3 1303 3.4 PKNOX1 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B GLIS2 ZNF213 ZNF143 KLF7 FRMD5 ZSCAN29 CTDSPL2 MFAP1 CATSPER2 STRCP1 ADAL GC15P044099
GH15I043990 Promoter 0.5 EPDnew 550.1 +205.3 205348 0.1 ACTBP7 FRMD5 GC15M043974
GH15I043924 Promoter 0.5 EPDnew 550.1 +271.3 271262 0.1 FRMD5 PIN4P1 GC15M043974
GH15I044156 Enhancer 1 Ensembl ENCODE 11.9 +37.3 37285 3.8 JUN SIN3A FEZF1 ZEB1 HIC1 ZNF335 CTBP1 GATA3 POLR2A FOSL2 FRMD5 ADAL GC15P044099
GH15I044066 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.5 +129.1 129076 0.6 CTCF ZNF654 TRIM22 REST RAD21 RFX5 ZFP69B JUND ZNF213 ZNF143 FRMD5 GAPDHP55 GC15P044099
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FRMD5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FRMD5 gene promoter:

Genomic Locations for FRMD5 Gene

Genomic Locations for FRMD5 Gene
chr15:43,870,761-44,195,577
(GRCh38/hg38)
Size:
324,817 bases
Orientation:
Minus strand
chr15:44,162,962-44,487,450
(GRCh37/hg19)

Genomic View for FRMD5 Gene

Genes around FRMD5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRMD5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRMD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRMD5 Gene

Proteins for FRMD5 Gene

  • Protein details for FRMD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z6J6-FRMD5_HUMAN
    Recommended name:
    FERM domain-containing protein 5
    Protein Accession:
    Q7Z6J6
    Secondary Accessions:
    • Q8NBG4

    Protein attributes for FRMD5 Gene

    Size:
    570 amino acids
    Molecular mass:
    65065 Da
    Quaternary structure:
    • Interacts with CTNND1 (PubMed:22846708). Interacts with ITGB5 (via cytoplasmic domain) and ROCK1 (PubMed:25448675).

    Alternative splice isoforms for FRMD5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FRMD5 Gene

Post-translational modifications for FRMD5 Gene

No Post-translational modifications

No data available for DME Specific Peptides for FRMD5 Gene

Domains & Families for FRMD5 Gene

Gene Families for FRMD5 Gene

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

Suggested Antigen Peptide Sequences for FRMD5 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FRMD5: view

No data available for UniProtKB/Swiss-Prot for FRMD5 Gene

Function for FRMD5 Gene

Molecular function for FRMD5 Gene

UniProtKB/Swiss-Prot Function:
May be involved in regulation of cell migration (PubMed:22846708, PubMed:25448675). May regulate cell-matrix interactions via its interaction with ITGB5 and modifying ITGB5 cytoplasmic tail interactions such as with FERMT2 and TLN1. May regulate ROCK1 kinase activity possibly involved in regulation of actin stress fiber formation (PubMed:25448675).

Phenotypes From GWAS Catalog for FRMD5 Gene

Gene Ontology (GO) - Molecular Function for FRMD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IDA 25448675
GO:0005200 structural constituent of cytoskeleton IBA --
GO:0005515 protein binding IPI 22846708
GO:0008092 cytoskeletal protein binding IEA --
GO:0019901 protein kinase binding IDA 25448675
genes like me logo Genes that share ontologies with FRMD5: view
genes like me logo Genes that share phenotypes with FRMD5: view

Animal Models for FRMD5 Gene

MGI Knock Outs for FRMD5:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FRMD5 Gene

Localization for FRMD5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRMD5 Gene

Membrane; Single-pass membrane protein. Cell junction, adherens junction.

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 FRMD5 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
golgi apparatus 3
nucleus 2
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (1)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FRMD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA,IBA --
GO:0005912 adherens junction IDA,IEA 22846708
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with FRMD5: view

Pathways & Interactions for FRMD5 Gene

SuperPathways for FRMD5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FRMD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030334 regulation of cell migration IMP 22846708
GO:0031032 actomyosin structure organization IBA --
GO:0045785 positive regulation of cell adhesion IMP 25448675
GO:2000146 negative regulation of cell motility IMP 25448675
genes like me logo Genes that share ontologies with FRMD5: view

No data available for Pathways by source and SIGNOR curated interactions for FRMD5 Gene

Drugs & Compounds for FRMD5 Gene

No Compound Related Data Available

Transcripts for FRMD5 Gene

Unigene Clusters for FRMD5 Gene

FERM domain containing 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FRMD5 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16
SP1: -
SP2: - -
SP3: - - -
SP4: - - - - -

Relevant External Links for FRMD5 Gene

GeneLoc Exon Structure for
FRMD5
ECgene alternative splicing isoforms for
FRMD5

Expression for FRMD5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FRMD5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FRMD5 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.5).

Protein differential expression in normal tissues from HIPED for FRMD5 Gene

This gene is overexpressed in Frontal cortex (14.1), Monocytes (13.4), Retina (12.7), Heart (10.3), and Testis (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FRMD5 Gene



Protein tissue co-expression partners for FRMD5 Gene

NURSA nuclear receptor signaling pathways regulating expression of FRMD5 Gene:

FRMD5

SOURCE GeneReport for Unigene cluster for FRMD5 Gene:

Hs.578544

Evidence on tissue expression from TISSUES for FRMD5 Gene

  • Nervous system(4.3)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with FRMD5: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRMD5 Gene

Orthologs for FRMD5 Gene

This gene was present in the common ancestor of animals.

Orthologs for FRMD5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FRMD5 33 34
  • 99.88 (n)
dog
(Canis familiaris)
Mammalia FRMD5 33 34
  • 95.09 (n)
cow
(Bos Taurus)
Mammalia FRMD5 33 34
  • 93.68 (n)
mouse
(Mus musculus)
Mammalia Frmd5 33 16 34
  • 91.82 (n)
rat
(Rattus norvegicus)
Mammalia Frmd5 33
  • 91.01 (n)
oppossum
(Monodelphis domestica)
Mammalia FRMD5 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FRMD5 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRMD5 33 34
  • 83.16 (n)
lizard
(Anolis carolinensis)
Reptilia FRMD5 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmd5 33
  • 70.86 (n)
zebrafish
(Danio rerio)
Actinopterygii FRMD5 (1 of 2) 34
  • 85 (a)
OneToMany
LOC570903 33
  • 77.35 (n)
FRMD5 34
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5022 34
  • 28 (a)
OneToMany
Species where no ortholog for FRMD5 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 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 FRMD5 Gene

ENSEMBL:
Gene Tree for FRMD5 (if available)
TreeFam:
Gene Tree for FRMD5 (if available)

Paralogs for FRMD5 Gene

Variants for FRMD5 Gene

Sequence variations from dbSNP and Humsavar for FRMD5 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000003511 -- 43,978,275(-) T/G intron_variant
rs1000010283 -- 44,037,963(-) T/G intron_variant
rs1000012662 -- 43,975,259(-) C/T intron_variant
rs1000018425 -- 43,884,296(-) A/G intron_variant
rs1000028443 -- 43,884,594(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FRMD5 Gene

Variant ID Type Subtype PubMed ID
nsv984063 CNV duplication 23825009
nsv94497 CNV deletion 16902084
nsv832989 CNV gain+loss 17160897
nsv569298 CNV loss 21841781
nsv476878 CNV novel sequence insertion 20440878
nsv471951 CNV novel sequence insertion 20440878
nsv1515 CNV insertion 18451855
nsv1050263 CNV loss 25217958
nsv1045362 CNV loss 25217958
nsv1044435 CNV gain 25217958
esv3636304 CNV loss 21293372
esv3636303 CNV loss 21293372
esv3636302 CNV loss 21293372
esv3636301 CNV loss 21293372
esv2749628 CNV deletion 23290073
esv2676192 CNV deletion 23128226
esv1620375 CNV insertion 17803354

Variation tolerance for FRMD5 Gene

Residual Variation Intolerance Score: 14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.22; 40.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRMD5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRMD5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRMD5 Gene

Disorders for FRMD5 Gene

Additional Disease Information for FRMD5

No disorders were found for FRMD5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRMD5 Gene

Publications for FRMD5 Gene

  1. FERM domain-containing protein FRMD5 regulates cell motility via binding to integrin β5 subunit and ROCK1. (PMID: 25448675) Hu J … Zhang H (FEBS letters 2014) 3 4 58
  2. FERM-containing protein FRMD5 is a p120-catenin interacting protein that regulates tumor progression. (PMID: 22846708) Wang T … Zhang H (FEBS letters 2012) 3 4 58
  3. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58

Products for FRMD5 Gene

Sources for FRMD5 Gene

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