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

Gene ID: 122786, updated on 6-Sep-2022

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; AllianceGenome:HGNC:19839
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
Summary
Predicted to be involved in actomyosin structure organization. Predicted to act upstream of or within apical constriction; cellular protein localization; and regulation of actin filament-based process. Predicted to be located in apical junction complex. Predicted to be active in cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in esophagus (RPKM 25.5), endometrium (RPKM 24.1) and 23 other tissues See more
Orthologs
NEW
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Genomic context

See FRMD6 in Genome Data Viewer
Location:
14q22.1
Exon count:
27
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (51396431..51730727)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (45695976..45937636)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (51955846..52197445)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900595 Neighboring gene uncharacterized LOC105370495 Neighboring gene long intergenic non-protein coding RNA 640 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 MED14-independent group 3 enhancer GRCh37_chr14:52000910-52002109 Neighboring gene U6 spliceosomal RNA 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

EBI GWAS Catalog

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

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 
involved_in apical constriction IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of actin filament-based process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in apical junction complex IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
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)

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
    Q8WUH7, 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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    51396431..51730727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430922.1XP_047286878.1  FERM domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUH7
  2. XM_047430931.1XP_047286887.1  FERM domain-containing protein 6 isoform X2

  3. XM_047430926.1XP_047286882.1  FERM domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUH7
  4. XM_047430921.1XP_047286877.1  FERM domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUH7
  5. XM_047430932.1XP_047286888.1  FERM domain-containing protein 6 isoform X2

  6. XM_047430933.1XP_047286889.1  FERM domain-containing protein 6 isoform X2

  7. XM_047430920.1XP_047286876.1  FERM domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUH7
  8. XM_047430929.1XP_047286885.1  FERM domain-containing protein 6 isoform X2

  9. XM_011536424.2XP_011534726.1  FERM domain-containing protein 6 isoform X1

    See identical proteins and their annotated locations for XP_011534726.1

    UniProtKB/Swiss-Prot
    Q8WUH7, 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)
  10. XM_047430928.1XP_047286884.1  FERM domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUH7
  11. XM_024449473.2XP_024305241.1  FERM domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUH7
    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)
  12. XM_047430927.1XP_047286883.1  FERM domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUH7
  13. XM_047430934.1XP_047286890.1  FERM domain-containing protein 6 isoform X2

  14. XM_047430923.1XP_047286879.1  FERM domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUH7
  15. XM_047430935.1XP_047286891.1  FERM domain-containing protein 6 isoform X2

  16. XM_024449475.2XP_024305243.1  FERM domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUH7
    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)
  17. XM_047430930.1XP_047286886.1  FERM domain-containing protein 6 isoform X2

  18. XM_024449474.2XP_024305242.1  FERM domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUH7
    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)
  19. XM_024449476.2XP_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)
  20. XM_047430925.1XP_047286881.1  FERM domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUH7
  21. XM_006720029.2XP_006720092.1  FERM domain-containing protein 6 isoform X1

    See identical proteins and their annotated locations for XP_006720092.1

    UniProtKB/Swiss-Prot
    Q8WUH7, 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)
  22. XM_006720030.2XP_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)
  23. XM_047430936.1XP_047286892.1  FERM domain-containing protein 6 isoform X3

  24. XM_047430937.1XP_047286893.1  FERM domain-containing protein 6 isoform X4

  25. XM_047430938.1XP_047286894.1  FERM domain-containing protein 6 isoform X4

  26. XM_017020967.2XP_016876456.1  FERM domain-containing protein 6 isoform X3

  27. XM_017020968.3XP_016876457.1  FERM domain-containing protein 6 isoform X4

  28. XM_047430939.1XP_047286895.1  FERM domain-containing protein 6 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    45695976..45937636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)