Aliases for FRMD8 Gene

Aliases for FRMD8 Gene

  • FERM Domain Containing 8 2 3 5
  • IRhom Tail-Associated Protein 2 3 4
  • ITAP 2 3 4
  • FERM Domain-Containing Protein 8 3 4
  • Band4.1 Inhibitor LRP Interactor 3 4
  • FKSG44 2 3
  • Bili 3 4
  • FLJ90369 2
  • FRMD8 5

External Ids for FRMD8 Gene

Previous GeneCards Identifiers for FRMD8 Gene

  • GC11P064911
  • GC11P065154
  • GC11P061480

Summaries for FRMD8 Gene

GeneCards Summary for FRMD8 Gene

FRMD8 (FERM Domain Containing 8) is a Protein Coding gene. An important paralog of this gene is KRIT1.

UniProtKB/Swiss-Prot Summary for FRMD8 Gene

  • Promotes the cell surface stability of iRhom1/RHBDF1 and iRhom2/RHBDF2 and prevents their degradation via the endolysosomal pathway. By acting on iRhoms, involved in ADAM17-mediated shedding of TNF, amphiregulin/AREG, HBEGF and TGFA from the cell surface (PubMed:29897333, PubMed:29897336). Negatively regulates Wnt signaling, possibly by antagonizing the recruitment of AXIN1 to LRP6 (PubMed:19572019).

Additional gene information for FRMD8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FRMD8 Gene

Genomics for FRMD8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FRMD8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRMD8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FRMD8

Top Transcription factor binding sites by QIAGEN in the FRMD8 gene promoter:
  • AREB6
  • ATF6
  • HNF-4alpha1
  • HNF-4alpha2
  • HSF2
  • Lmo2
  • Pax-4a
  • RP58
  • SEF-1 (1)
  • Sp1

Genomic Locations for FRMD8 Gene

Genomic Locations for FRMD8 Gene
chr11:65,386,621-65,413,525
(GRCh38/hg38)
Size:
26,905 bases
Orientation:
Plus strand
chr11:65,154,041-65,180,996
(GRCh37/hg19)
Size:
26,956 bases
Orientation:
Plus strand

Genomic View for FRMD8 Gene

Genes around FRMD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRMD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRMD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRMD8 Gene

Proteins for FRMD8 Gene

  • Protein details for FRMD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZ67-FRMD8_HUMAN
    Recommended name:
    FERM domain-containing protein 8
    Protein Accession:
    Q9BZ67
    Secondary Accessions:
    • B4E2P1
    • Q86V56
    • Q8NCB5

    Protein attributes for FRMD8 Gene

    Size:
    464 amino acids
    Molecular mass:
    51218 Da
    Quaternary structure:
    • Interacts with iRhom1/RHBDF1 and iRhom2/RHBDF2 (via cytoplasmic N-termini); this interaction leads to mutual protein stabilization (PubMed:29897333). Interacts with ADAM17; this interaction is indirect and mediated by iRhom proteins (PubMed:29897333, PubMed:29897336). Interacts with LRP6; this interaction affects LRP6-binding to AXIN1 (PubMed:19572019).

    Alternative splice isoforms for FRMD8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FRMD8 Gene

Post-translational modifications for FRMD8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FRMD8 Gene

Domains & Families for FRMD8 Gene

Gene Families for FRMD8 Gene

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

Protein Domains for FRMD8 Gene

Suggested Antigen Peptide Sequences for FRMD8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52403, highly similar to Homo sapiens FKSG44 gene (FKSG44), mRNA (B4E2P1_HUMAN)
  • FERM domain-containing protein 8 (FRMD8_HUMAN)
genes like me logo Genes that share domains with FRMD8: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FRMD8 Gene

Function for FRMD8 Gene

Molecular function for FRMD8 Gene

UniProtKB/Swiss-Prot Function:
Promotes the cell surface stability of iRhom1/RHBDF1 and iRhom2/RHBDF2 and prevents their degradation via the endolysosomal pathway. By acting on iRhoms, involved in ADAM17-mediated shedding of TNF, amphiregulin/AREG, HBEGF and TGFA from the cell surface (PubMed:29897333, PubMed:29897336). Negatively regulates Wnt signaling, possibly by antagonizing the recruitment of AXIN1 to LRP6 (PubMed:19572019).

Phenotypes From GWAS Catalog for FRMD8 Gene

Gene Ontology (GO) - Molecular Function for FRMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FRMD8: view
genes like me logo Genes that share phenotypes with FRMD8: view

Animal Models for FRMD8 Gene

MGI Knock Outs for FRMD8:
  • Frmd8 Frmd8<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRMD8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FRMD8 Gene

Localization for FRMD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRMD8 Gene

Cytoplasm, cytosol. Cell membrane.

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 FRMD8 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 3
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FRMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,IDA 29897333
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA,IDA 29897333
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FRMD8: view

Pathways & Interactions for FRMD8 Gene

PathCards logo

SuperPathways for FRMD8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FRMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1904469 positive regulation of tumor necrosis factor secretion IMP 29897336
genes like me logo Genes that share ontologies with FRMD8: view

No data available for Pathways by source and SIGNOR curated interactions for FRMD8 Gene

Drugs & Compounds for FRMD8 Gene

No Compound Related Data Available

Transcripts for FRMD8 Gene

mRNA/cDNA for FRMD8 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRMD8

Alternative Splicing Database (ASD) splice patterns (SP) for FRMD8 Gene

No ASD Table

Relevant External Links for FRMD8 Gene

GeneLoc Exon Structure for
FRMD8

Expression for FRMD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FRMD8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FRMD8 Gene

This gene is overexpressed in Serum (31.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FRMD8 Gene



Protein tissue co-expression partners for FRMD8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FRMD8

SOURCE GeneReport for Unigene cluster for FRMD8 Gene:

Hs.578433

mRNA Expression by UniProt/SwissProt for FRMD8 Gene:

Q9BZ67-FRMD8_HUMAN
Tissue specificity: Widely expressed, with high expression in heart and spleen.

Evidence on tissue expression from TISSUES for FRMD8 Gene

  • Liver(4.5)
  • Intestine(4.4)
  • Nervous system(3.3)
  • Muscle(2.4)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with FRMD8: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRMD8 Gene

Orthologs for FRMD8 Gene

This gene was present in the common ancestor of animals.

Orthologs for FRMD8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FRMD8 30
  • 99.35 (n)
Cow
(Bos Taurus)
Mammalia FRMD8 30 31
  • 88.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FRMD8 30 31
  • 87.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Frmd8 30 17 31
  • 84.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Frmd8 30
  • 84.48 (n)
Oppossum
(Monodelphis domestica)
Mammalia FRMD8 31
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FRMD8 31
  • 67 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FRMD8 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia frmd8 30
  • 60.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53754 30
Zebrafish
(Danio rerio)
Actinopterygii frmd8 30 31
  • 59.46 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002678 30
  • 49.96 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Bili 30 31
  • 49.25 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea frm-10 31
  • 16 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToOne
Species where no ortholog for FRMD8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chicken (Gallus gallus)
  • 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 FRMD8 Gene

ENSEMBL:
Gene Tree for FRMD8 (if available)
TreeFam:
Gene Tree for FRMD8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FRMD8: view image

Paralogs for FRMD8 Gene

Paralogs for FRMD8 Gene

(1) SIMAP similar genes for FRMD8 Gene using alignment to 6 proteins:

  • FRMD8_HUMAN
  • B4E2P1_HUMAN
  • E9PRA3_HUMAN
  • E9PRP1_HUMAN
  • E9PS62_HUMAN
  • Q8N4M4_HUMAN

Pseudogenes.org Pseudogenes for FRMD8 Gene

genes like me logo Genes that share paralogs with FRMD8: view

Variants for FRMD8 Gene

Additional dbSNP identifiers (rs#s) for FRMD8 Gene

Structural Variations from Database of Genomic Variants (DGV) for FRMD8 Gene

Variant ID Type Subtype PubMed ID
esv2422285 CNV deletion 17116639
nsv1122634 CNV deletion 24896259
nsv1145541 CNV deletion 24896259
nsv526181 CNV gain 19592680
nsv951016 CNV deletion 24416366

Variation tolerance for FRMD8 Gene

Residual Variation Intolerance Score: 66.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.81; 47.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRMD8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRMD8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FRMD8 Gene

Disorders for FRMD8 Gene

No disorders were found for FRMD8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRMD8 Gene

Publications for FRMD8 Gene

  1. FRMD8 promotes inflammatory and growth factor signalling by stabilising the iRhom/ADAM17 sheddase complex. (PMID: 29897336) Künzel U … Freeman M (eLife 2018) 2 3 4
  2. iTAP, a novel iRhom interactor, controls TNF secretion by policing the stability of iRhom/TACE. (PMID: 29897333) Oikonomidi I … Adrain C (eLife 2018) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for FRMD8 Gene