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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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