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

Summary

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, Dec 2024]
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

Location:: 11q13.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (65368026..65413525)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (65361332..65419838)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (65154108..65180996)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LINC01002 functions as a ceRNA to regulate FRMD8 by sponging miR-4324 for the development of COVID-19.
Title: LINC01002 functions as a ceRNA to regulate FRMD8 by sponging miR-4324 for the development of COVID-19.
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.
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.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1425 (e-PCR)
- UniSTS:149621

G33113 (e-PCR)
- UniSTS:33400

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)

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

65368026..65413525

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A8K6L3
XM_047427683.1 → XP_047283639.1 FERM domain-containing protein 8 isoform X1

UniProtKB/TrEMBL

A8K6L3

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

65361332..65419838

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A8K6L3
XM_054370146.1 → XP_054226121.1 FERM domain-containing protein 8 isoform X1

UniProtKB/TrEMBL

A8K6L3