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Aliases for FRMD4B Gene

Aliases for FRMD4B Gene

  • FERM Domain Containing 4B 2 3 5
  • GRP1-Binding Protein GRSP1 3 4
  • GRSP1 3 4
  • FERM Domain-Containing Protein 4B 3
  • 6030440G05Rik 3
  • KIAA1013 4

External Ids for FRMD4B Gene

Previous GeneCards Identifiers for FRMD4B Gene

  • GC03M069302

Summaries for FRMD4B Gene

Entrez Gene Summary for FRMD4B Gene

  • This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]

GeneCards Summary for FRMD4B Gene

FRMD4B (FERM Domain Containing 4B) is a Protein Coding gene. An important paralog of this gene is FRMD4A.

UniProtKB/Swiss-Prot for FRMD4B Gene

  • Member of GRP1 signaling complexes that are acutely recruited to plasma membrane ruffles in response to insulin receptor signaling. May function as a scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex. Plays a redundant role with FRMD4A in epithelial polarization.

Additional gene information for FRMD4B Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRMD4B Gene

Genomics for FRMD4B Gene

GeneHancer (GH) Regulatory Elements for FRMD4B Gene

Promoters and enhancers for FRMD4B 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
GH03I069385 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 550.1 +156.4 156439 2.3 CTCF ZIC2 RAD21 HIC1 ZNF335 GLIS2 PATZ1 SCRT2 PRDM10 ZBTB20 FRMD4B RBM43P1 LMOD3
GH03I069541 Promoter/Enhancer 1.3 Ensembl ENCODE 550.8 +0.6 626 2.6 CTCF MXI1 KLF1 PKNOX1 USF1 ZNF777 ZNF449 ZIC2 ZNF335 ZFHX2 FRMD4B LOC642487
GH03I069324 Enhancer 1.2 Ensembl ENCODE dbSUPER 5.2 +215.8 215759 4.8 BMI1 RAD21 ZNF207 ZNF143 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 ZNF654 LMOD3 FRMD4B RBM43P1
GH03I069351 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 4.5 +189.6 189576 2.5 PKNOX1 JUN JUNB MAX CEBPB BATF JUND POLR2A IKZF1 ETV6 FRMD4B RBM43P1 LMOD3
GH03I069330 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 4.8 +211.7 211683 1.8 JUND MAX MAFK RAD21 NR2F2 FRMD4B MITF RBM43P1 LMOD3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FRMD4B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FRMD4B gene promoter:

Genomic Locations for FRMD4B Gene

Genomic Locations for FRMD4B Gene
chr3:69,168,782-69,542,583
(GRCh38/hg38)
Size:
373,802 bases
Orientation:
Minus strand
chr3:69,219,141-69,591,734
(GRCh37/hg19)

Genomic View for FRMD4B Gene

Genes around FRMD4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRMD4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRMD4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRMD4B Gene

Proteins for FRMD4B Gene

  • Protein details for FRMD4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2L6-FRM4B_HUMAN
    Recommended name:
    FERM domain-containing protein 4B
    Protein Accession:
    Q9Y2L6
    Secondary Accessions:
    • Q8TAI3

    Protein attributes for FRMD4B Gene

    Size:
    1034 amino acids
    Molecular mass:
    118047 Da
    Quaternary structure:
    • Interacts with CYTH3 (By similarity). Interacts with PARD3 (By similarity). Interacts with CYTH1 (By similarity).
    SequenceCaution:
    • Sequence=BAA76857.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for FRMD4B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FRMD4B Gene

Post-translational modifications for FRMD4B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FRMD4B Gene

Domains & Families for FRMD4B Gene

Gene Families for FRMD4B Gene

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

Suggested Antigen Peptide Sequences for FRMD4B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FRMD4B: view

No data available for UniProtKB/Swiss-Prot for FRMD4B Gene

Function for FRMD4B Gene

Molecular function for FRMD4B Gene

UniProtKB/Swiss-Prot Function:
Member of GRP1 signaling complexes that are acutely recruited to plasma membrane ruffles in response to insulin receptor signaling. May function as a scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex. Plays a redundant role with FRMD4A in epithelial polarization.

Phenotypes From GWAS Catalog for FRMD4B Gene

Phenotypes for FRMD4B Gene

genes like me logo Genes that share phenotypes with FRMD4B: view

Animal Models for FRMD4B Gene

MGI Knock Outs for FRMD4B:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FRMD4B Gene

Localization for FRMD4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRMD4B Gene

Cytoplasm, cytoskeleton. Cell junction, tight junction. Cell junction, adherens junction. Note=Colocalized with PARD3 at adherens junction and tight junction. {ECO:0000250 UniProtKB:Q920B0}.

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 FRMD4B gene
Compartment Confidence
extracellular 5
cytoskeleton 4
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for FRMD4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005615 extracellular space HDA,IDA 23580065
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005912 adherens junction IEA --
genes like me logo Genes that share ontologies with FRMD4B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FRMD4B Gene

Pathways & Interactions for FRMD4B Gene

SuperPathways for FRMD4B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FRMD4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090162 establishment of epithelial cell polarity IEA --
genes like me logo Genes that share ontologies with FRMD4B: view

No data available for Pathways by source and SIGNOR curated interactions for FRMD4B Gene

Drugs & Compounds for FRMD4B Gene

No Compound Related Data Available

Transcripts for FRMD4B Gene

Unigene Clusters for FRMD4B Gene

FERM domain containing 4B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FRMD4B Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23
SP1:
SP2: - - - - -
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for FRMD4B Gene

GeneLoc Exon Structure for
FRMD4B
ECgene alternative splicing isoforms for
FRMD4B

Expression for FRMD4B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FRMD4B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FRMD4B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (27.2), Brain (20.4), Plasma (9.5), and Pancreas (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FRMD4B Gene



Protein tissue co-expression partners for FRMD4B Gene

NURSA nuclear receptor signaling pathways regulating expression of FRMD4B Gene:

FRMD4B

SOURCE GeneReport for Unigene cluster for FRMD4B Gene:

Hs.709671

Evidence on tissue expression from TISSUES for FRMD4B Gene

  • Nervous system(4.7)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with FRMD4B: view

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 FRMD4B Gene

Orthologs for FRMD4B Gene

This gene was present in the common ancestor of animals.

Orthologs for FRMD4B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FRMD4B 33 34
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia FRMD4B 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FRMD4B 33 34
  • 91.59 (n)
rat
(Rattus norvegicus)
Mammalia Frmd4b 33
  • 87.4 (n)
oppossum
(Monodelphis domestica)
Mammalia FRMD4B 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Frmd4b 33 16 34
  • 86.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FRMD4B 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRMD4B 33 34
  • 76.49 (n)
lizard
(Anolis carolinensis)
Reptilia FRMD4B 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmd4b 33
  • 68.34 (n)
Str.2028 33
zebrafish
(Danio rerio)
Actinopterygii frmd4bb 33 34
  • 60.78 (n)
frmd4ba 34
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F07C6.4 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToMany
Species where no ortholog for FRMD4B 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)
  • fruit fly (Drosophila melanogaster)
  • 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 FRMD4B Gene

ENSEMBL:
Gene Tree for FRMD4B (if available)
TreeFam:
Gene Tree for FRMD4B (if available)

Paralogs for FRMD4B Gene

Paralogs for FRMD4B Gene

genes like me logo Genes that share paralogs with FRMD4B: view

Variants for FRMD4B Gene

Sequence variations from dbSNP and Humsavar for FRMD4B Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000007820 -- 69,304,711(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000008707 -- 69,367,413(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000020893 -- 69,430,986(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000026926 -- 69,365,567(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000040032 -- 69,400,167(-) C/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FRMD4B Gene

Variant ID Type Subtype PubMed ID
esv1002559 CNV deletion 20482838
esv1435155 CNV deletion 17803354
esv1946491 CNV deletion 18987734
esv2667894 CNV deletion 23128226
esv2675880 CNV deletion 23128226
esv2725384 CNV deletion 23290073
esv2725386 CNV deletion 23290073
esv2725387 CNV deletion 23290073
esv2725388 CNV deletion 23290073
esv2725389 CNV deletion 23290073
esv2725390 CNV deletion 23290073
esv2760780 CNV gain 21179565
esv3304863 CNV mobile element insertion 20981092
esv3448657 CNV insertion 20981092
esv3562035 CNV deletion 23714750
esv3596495 CNV loss 21293372
esv3596497 CNV loss 21293372
esv3596498 CNV loss 21293372
nsv1012483 CNV gain 25217958
nsv237526 CNV deletion 16902084
nsv237596 CNV deletion 16902084
nsv237604 CNV deletion 16902084
nsv3864 CNV insertion 18451855
nsv520818 CNV loss 19592680

Variation tolerance for FRMD4B Gene

Residual Variation Intolerance Score: 94.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.67; 89.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRMD4B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRMD4B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRMD4B Gene

Disorders for FRMD4B Gene

Additional Disease Information for FRMD4B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FRMD4B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRMD4B Gene

Publications for FRMD4B Gene

  1. Signaling complexes of the FERM domain-containing protein GRSP1 bound to ARF exchange factor GRP1. (PMID: 11445584) Klarlund JK … Czech MP (The Journal of biological chemistry 2001) 2 3 22 58
  2. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  3. Multiple common variants for celiac disease influencing immune gene expression. (PMID: 20190752) Dubois PC … van Heel DA (Nature genetics 2010) 3 44 58
  4. 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
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for FRMD4B Gene

Sources for FRMD4B Gene

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