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

Gene ID: 83786, updated on 13-Mar-2020

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
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
Expression
Ubiquitous expression in spleen (RPKM 9.9), skin (RPKM 9.0) and 25 other tissues See more
Orthologs

Genomic context

See FRMD8 in Genome Data Viewer
Location:
11q13.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65386637..65413525)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65154041..65180996)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene tigger transposable element derived 3 Neighboring gene solute carrier family 25 member 45 Neighboring gene Sharpr-MPRA regulatory region 983 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3233 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3235 Neighboring gene uncharacterized LOC107984338

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32216, FLJ90369, MGC31785

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001300832.3NP_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/Swiss-Prot
    Q9BZ67
    Related
    ENSP00000348270.5, ENST00000355991.9
    Conserved Domains (1) summary
    pfam00373
    Location:81216
    FERM_M; FERM central domain
  2. NM_001300833.3NP_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/Swiss-Prot
    Q9BZ67
    Related
    ENSP00000392111.2, ENST00000416776.6
    Conserved Domains (2) summary
    smart00295
    Location:32238
    B41; Band 4.1 homologues
    pfam00373
    Location:103238
    FERM_M; FERM central domain
  3. NM_031904.5NP_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
    Q9BZ67
    UniProtKB/TrEMBL
    A8K6L3
    Related
    ENSP00000319726.4, ENST00000317568.10
    Conserved Domains (2) summary
    smart00295
    Location:32272
    B41; Band 4.1 homologues
    pfam00373
    Location:137272
    FERM_M; FERM central domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    65386637..65413525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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