Gene Gene information from NCBI Gene database.
Entrez ID 83786
Gene name FERM domain containing 8
Gene symbol FRMD8
Synonyms (NCBI Gene)
FKSG44iTAP
Chromosome 11
Chromosome location 11q13.1
miRNA miRNA information provided by mirtarbase database.
467
miRTarBase ID miRNA Experiments Reference
MIRT023130 hsa-miR-124-3p Microarray 18668037
MIRT037767 hsa-miR-874-3p CLASH 23622248
MIRT647814 hsa-miR-4787-3p HITS-CLIP 23824327
MIRT647813 hsa-miR-483-3p HITS-CLIP 23824327
MIRT647812 hsa-miR-1273g-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 29897333, 29897336, 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 29897333
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618337 25462 ENSG00000126391
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZ67
Protein name FERM domain-containing protein 8 (Band4.1 inhibitor LRP interactor) (Bili) (iRhom tail-associated protein) (iTAP)
Protein 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 cel
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00373 FERM_M 135 272 FERM central domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with high expression in heart and spleen. {ECO:0000269|PubMed:19572019}.
Sequence
MDGTEGSAGQPGPAERSHRSSVSSVGARAADVLVYLADDTVVPLAVENLPSLSAHELHRA
VREVLQLPDIALDVFALWLVSPLLEVQLKPKHQPYKLGRQWPELLLRFTSAPDDDVAMDE
PFLQFRRNVFFPKRRELQIHDEEVLRLLYEEAKGNVLAARYPCDVEDCEALGALVCRVQL
GPYQPGRPAACDLREKLDSFLPAHLCKRGQSLFAALRGRGARAGPGEQGLLNAYRQVQEV
SSDGGCEAALGTHYRAYLLKCHELPFYGCAFF
HGEVDKPAQGFLHRGGRKPVSVAISLEG
VHVIDSREKHVLLGLRFQELSWDHTSPEEEEPILWLEFDGDSEGTPVNKLLKIYSKQAEL
MSSLIEYCIELSQAAEPAGPQDSATGSPSDPSSSLAPVQRPKLRRQGSVVSSRIQHLSTI
DYVEDGKGIRRVKPKRTTSFFSRQLSLGQGSYTVVQPGDSLEQG
Sequence length 464
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  TNF signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 37872557 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 29967001 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Endometrioid Endometrioid carcinoma Pubtator 29967001 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 30760869 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Sick Sinus Syndrome Sick sinus syndrome Pubtator 36171622 Stimulate
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 36171622 Associate
★☆☆☆☆
Found in Text Mining only