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    FRMD8 FERM domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 83786, updated on 3-Apr-2024

    Summary

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    Official Symbol
    FRMD8provided by HGNC
    Official Full Name
    FERM domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:25462
    See related
    Ensembl:ENSG00000126391 MIM:618337; AllianceGenome:HGNC:25462
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    iTAP; FKSG44
    Summary
    Involved in positive regulation of tumor necrosis factor production. Located in several cellular components, including centriolar satellite; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in spleen (RPKM 9.9), skin (RPKM 9.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q13.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65368026..65426526)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65361332..65419838)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65154108..65180996)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65104413-65104913 Neighboring gene double PHD fingers 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3521 Neighboring gene Sharpr-MPRA regulatory region 3865 Neighboring gene tigger transposable element derived 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65144096-65144596 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:65149420-65150619 Neighboring gene solute carrier family 25 member 45 Neighboring gene Sharpr-MPRA regulatory region 10780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65153824-65154412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65156452-65157086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65160023-65160609 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65167805-65168690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65171719-65172218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4958 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65187227-65187812 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:65188260-65189459 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr11:65189569-65190154 and GRCh37_chr11:65190155-65190740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4968 Neighboring gene Sharpr-MPRA regulatory region 4367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4969 Neighboring gene nuclear paraspeckle assembly transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65210919-65211744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65211745-65212569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4973 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65222520-65222823 Neighboring gene microRNA 612 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:65226769-65227414 Neighboring gene FAU pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Volatile Evolution of Long Non-Coding RNA Repertoire in Retinal Pigment Epithelium: Insights from Comparison of Bovine and Human RNA Expression Profiles. Postnikova OA, et al. Genes (Basel), 2019 Mar 8. PMID 30857256, Free PMC Article
    2. FRMD8 promotes inflammatory and growth factor signalling by stabilising the iRhom/ADAM17 sheddase complex. Künzel U, et al. Elife, 2018 Jun 13. PMID 29897336, Free PMC Article
    3. iTAP, a novel iRhom interactor, controls TNF secretion by policing the stability of iRhom/TACE. Oikonomidi I, et al. Elife, 2018 Jun 13. PMID 29897333, Free PMC Article
    4. Expanding the substantial interactome of NEMO using protein microarrays. Fenner BJ, et al. PLoS One, 2010 Jan 20. PMID 20098747, Free PMC Article
    5. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FRMD8 targets both CDK4 activation and RB degradation to suppress colon cancer growth.
      Title: FRMD8 targets both CDK4 activation and RB degradation to suppress colon cancer growth.
    2. iTAP (FRMD8) is a novel iRhom2 interactor that controls TNF-alpha secretion by policing the stability of iRhom2/ADAM17 complex.
      Title: iTAP, a novel iRhom interactor, controls TNF secretion by policing the stability of iRhom/TACE.
    3. FRMD8 promotes inflammatory and growth factor signaling by stabilizing the iRhom2/ADAM17 sheddase complex.
      Title: FRMD8 promotes inflammatory and growth factor signalling by stabilising the iRhom/ADAM17 sheddase complex.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32216, FLJ90369, MGC31785

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    FERM domain-containing protein 8
    Names
    band4.1 inhibitor LRP interactor
    bili
    iRhom Tail-Associated Protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001300832.3 → NP_001287761.1  FERM domain-containing protein 8 isoform 2

      See identical proteins and their annotated locations for NP_001287761.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AP000944
      Consensus CDS
      CCDS76432.1
      UniProtKB/TrEMBL
      A8K6L3
      Related
      ENSP00000348270.5, ENST00000355991.9
      Conserved Domains (1) summary
      pfam00373
      Location:81 → 216
      FERM_M; FERM central domain

    2. NM_001300833.3 → NP_001287762.1  FERM domain-containing protein 8 isoform 3

      See identical proteins and their annotated locations for NP_001287762.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AP000944
      Consensus CDS
      CCDS73320.1
      UniProtKB/TrEMBL
      A8K6L3
      Related
      ENSP00000392111.2, ENST00000416776.6
      Conserved Domains (2) summary
      smart00295
      Location:32 → 238
      B41; Band 4.1 homologues
      pfam00373
      Location:103 → 238
      FERM_M; FERM central domain

    3. NM_031904.5 → NP_114110.1  FERM domain-containing protein 8 isoform 1

      See identical proteins and their annotated locations for NP_114110.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AP000944
      Consensus CDS
      CCDS8102.1
      UniProtKB/Swiss-Prot
      B4E2P1, Q86V56, Q8NCB5, Q9BZ67
      UniProtKB/TrEMBL
      A8K6L3
      Related
      ENSP00000319726.4, ENST00000317568.10
      Conserved Domains (1) summary
      pfam00373
      Location:137 → 272
      FERM_M; FERM central domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      65368026..65426526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427684.1 → XP_047283640.1  FERM domain-containing protein 8 isoform X2

    2. XM_047427683.1 → XP_047283639.1  FERM domain-containing protein 8 isoform X1

    RNA

    1. XR_007062512.1 RNA Sequence

    2. XR_007062511.1 RNA Sequence

    3. XR_007062510.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65361332..65419838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370147.1 → XP_054226122.1  FERM domain-containing protein 8 isoform X2

    2. XM_054370146.1 → XP_054226121.1  FERM domain-containing protein 8 isoform X1

    RNA

    1. XR_008488469.1 RNA Sequence

    2. XR_008488468.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BZ67.1 GenPept UniProtKB/Swiss-Prot:Q9BZ67

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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