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FRMD6 FERM domain containing 6 [ Homo sapiens (human) ]

Gene ID: 122786, updated on 20-Dec-2019

Summary

Official Symbol
FRMD6provided by HGNC
Official Full Name
FERM domain containing 6provided by HGNC
Primary source
HGNC:HGNC:19839
See related
Ensembl:ENSG00000139926 MIM:614555
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
EX1; Willin; C14orf31; c14_5320
Expression
Broad expression in esophagus (RPKM 25.5), endometrium (RPKM 24.1) and 23 other tissues See more
Orthologs

Genomic context

See FRMD6 in Genome Data Viewer
Location:
14q22.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (51489100..51730727)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (51955819..52197445)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2310 Neighboring gene FRMD6 antisense RNA 2 Neighboring gene SET pseudogene 2 Neighboring gene RNA, U6 small nuclear 1291, pseudogene Neighboring gene Sharpr-MPRA regulatory region 6575 Neighboring gene FRMD6 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 385 Neighboring gene RNA, U6 small nuclear 301, pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 105 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 106 pseudogene

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of the Protein C anticoagulant pathway.
NHGRI GWA Catalog
A genome-wide gene-environment interaction analysis for tobacco smoke and lung cancer susceptibility.
NHGRI GWA Catalog
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
NHGRI GWA Catalog
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
NHGRI GWA Catalog
Voxelwise genome-wide association study (vGWAS).
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC17921

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actomyosin structure organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apical constriction IEA
Inferred from Electronic Annotation
more info
 
cellular protein localization IEA
Inferred from Electronic Annotation
more info
 
regulation of actin filament-based process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical junction complex IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
FERM domain-containing protein 6
Names
4.1 ezrin radixin moesin (FERM)-containing protein
expanded homolog

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_001042481.3NP_001035946.1  FERM domain-containing protein 6 isoform 1

    See identical proteins and their annotated locations for NP_001035946.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AL833158, AL833661, DA456598
    Consensus CDS
    CCDS9704.1
    UniProtKB/Swiss-Prot
    Q96NE9
    Related
    ENSP00000348550.4, ENST00000356218.8
    Conserved Domains (2) summary
    smart00295
    Location:20226
    B41; Band 4.1 homologues
    cd13185
    Location:219327
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
  2. NM_001267046.2NP_001253975.1  FERM domain-containing protein 6 isoform 2

    See identical proteins and their annotated locations for NP_001253975.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and represents the use of an alternate promoter and contains an extra segment in the 5' coding region, compared to variant 1. These differences result in a longer protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AK055545, AL833661, BX161430
    Consensus CDS
    CCDS58318.1
    UniProtKB/Swiss-Prot
    Q96NE9
    Related
    ENSP00000343899.5, ENST00000344768.9
    Conserved Domains (2) summary
    smart00295
    Location:20234
    B41; Band 4.1 homologues
    cd13185
    Location:227335
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
  3. NM_001267047.1NP_001253976.1  FERM domain-containing protein 6 isoform 3

    See identical proteins and their annotated locations for NP_001253976.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and represents the use of an alternate promoter and an in-frame downstream start codon, compared to variant 1. These differences result in a protein (isoform 3) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL833661, BC029870
    Consensus CDS
    CCDS58319.1
    UniProtKB/Swiss-Prot
    Q96NE9
    Related
    ENSP00000452529.1, ENST00000553556.2
  4. NM_152330.4NP_689543.1  FERM domain-containing protein 6 isoform 1

    See identical proteins and their annotated locations for NP_689543.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1, and encodes isoform 1. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AL833661, BX161430
    Consensus CDS
    CCDS9704.1
    UniProtKB/Swiss-Prot
    Q96NE9
    Related
    ENSP00000379068.2, ENST00000395718.6
    Conserved Domains (2) summary
    smart00295
    Location:20226
    B41; Band 4.1 homologues
    cd13185
    Location:219327
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    51489100..51730727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536424.1XP_011534726.1  FERM domain-containing protein 6 isoform X1

    See identical proteins and their annotated locations for XP_011534726.1

    UniProtKB/Swiss-Prot
    Q96NE9
    Conserved Domains (2) summary
    smart00295
    Location:20234
    B41; Band 4.1 homologues
    cd13185
    Location:227335
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
  2. XM_011536423.1XP_011534725.1  FERM domain-containing protein 6 isoform X1

    See identical proteins and their annotated locations for XP_011534725.1

    UniProtKB/Swiss-Prot
    Q96NE9
    Conserved Domains (2) summary
    smart00295
    Location:20234
    B41; Band 4.1 homologues
    cd13185
    Location:227335
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
  3. XM_024449473.1XP_024305241.1  FERM domain-containing protein 6 isoform X1

  4. XM_024449472.1XP_024305240.1  FERM domain-containing protein 6 isoform X1

  5. XM_017020968.2XP_016876457.1  FERM domain-containing protein 6 isoform X4

  6. XM_017020967.1XP_016876456.1  FERM domain-containing protein 6 isoform X3

  7. XM_006720029.1XP_006720092.1  FERM domain-containing protein 6 isoform X1

    See identical proteins and their annotated locations for XP_006720092.1

    UniProtKB/Swiss-Prot
    Q96NE9
    Conserved Domains (2) summary
    smart00295
    Location:20234
    B41; Band 4.1 homologues
    cd13185
    Location:227335
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
  8. XM_006720030.1XP_006720093.1  FERM domain-containing protein 6 isoform X2

    See identical proteins and their annotated locations for XP_006720093.1

    UniProtKB/Swiss-Prot
    Q96NE9
    Conserved Domains (2) summary
    smart00295
    Location:20226
    B41; Band 4.1 homologues
    cd13185
    Location:219327
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
  9. XM_024449476.1XP_024305244.1  FERM domain-containing protein 6 isoform X2

    Conserved Domains (2) summary
    smart00295
    Location:20226
    B41; Band 4.1 homologues
    cd13185
    Location:219327
    FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
  10. XM_024449474.1XP_024305242.1  FERM domain-containing protein 6 isoform X1

  11. XM_024449475.1XP_024305243.1  FERM domain-containing protein 6 isoform X1

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