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

    Gene ID: 122786, updated on 5-Sep-2021

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See FRMD6 in Genome Data Viewer
    Location:
    14q22.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (51489100..51730727)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (51955846..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

    Associated conditions

    Description Tests
    A genome-wide association study of the Protein C anticoagulant pathway.
    GeneReviews: Not available
    A genome-wide gene-environment interaction analysis for tobacco smoke and lung cancer susceptibility.
    GeneReviews: Not available
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    GeneReviews: Not available
    Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
    GeneReviews: Not available
    Voxelwise genome-wide association study (vGWAS).
    GeneReviews: Not available

    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
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    NEW Try the new Transcript table

    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 (3) 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
      cd17198
      Location:15112
      FERM_F1_FRMD6; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 6 (FRMD6)
    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
      ENSP00000343899.6, ENST00000344768.10
      Conserved Domains (3) summary
      cd13185
      Location:227335
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      cd14473
      Location:128226
      FERM_B-lobe; FERM domain B-lobe
      cd17198
      Location:15120
      FERM_F1_FRMD6; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 6 (FRMD6)
    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 (3) 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
      cd17198
      Location:15112
      FERM_F1_FRMD6; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 6 (FRMD6)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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 (3) summary
      cd13185
      Location:227335
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      cd14473
      Location:128226
      FERM_B-lobe; FERM domain B-lobe
      cd17198
      Location:15120
      FERM_F1_FRMD6; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 6 (FRMD6)
    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 (3) summary
      cd13185
      Location:227335
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      cd14473
      Location:128226
      FERM_B-lobe; FERM domain B-lobe
      cd17198
      Location:15120
      FERM_F1_FRMD6; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 6 (FRMD6)
    3. XM_024449473.1XP_024305241.1  FERM domain-containing protein 6 isoform X1

      Conserved Domains (3) summary
      cd13185
      Location:227335
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      cd14473
      Location:128226
      FERM_B-lobe; FERM domain B-lobe
      cd17198
      Location:15120
      FERM_F1_FRMD6; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 6 (FRMD6)
    4. XM_024449472.1XP_024305240.1  FERM domain-containing protein 6 isoform X1

      Conserved Domains (3) summary
      cd13185
      Location:227335
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      cd14473
      Location:128226
      FERM_B-lobe; FERM domain B-lobe
      cd17198
      Location:15120
      FERM_F1_FRMD6; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 6 (FRMD6)
    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 (3) summary
      cd13185
      Location:227335
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      cd14473
      Location:128226
      FERM_B-lobe; FERM domain B-lobe
      cd17198
      Location:15120
      FERM_F1_FRMD6; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 6 (FRMD6)
    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 (3) 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
      cd17198
      Location:15112
      FERM_F1_FRMD6; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 6 (FRMD6)
    9. XM_024449476.1XP_024305244.1  FERM domain-containing protein 6 isoform X2

      Conserved Domains (3) 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
      cd17198
      Location:15112
      FERM_F1_FRMD6; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 6 (FRMD6)
    10. XM_024449474.1XP_024305242.1  FERM domain-containing protein 6 isoform X1

      Conserved Domains (3) summary
      cd13185
      Location:227335
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      cd14473
      Location:128226
      FERM_B-lobe; FERM domain B-lobe
      cd17198
      Location:15120
      FERM_F1_FRMD6; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 6 (FRMD6)
    11. XM_024449475.1XP_024305243.1  FERM domain-containing protein 6 isoform X1

      Conserved Domains (3) summary
      cd13185
      Location:227335
      FERM_C_FRMD1_FRMD6; FERM domain C-lobe of FERM domain containing 1 and 6 proteins
      cd14473
      Location:128226
      FERM_B-lobe; FERM domain B-lobe
      cd17198
      Location:15120
      FERM_F1_FRMD6; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 6 (FRMD6)
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