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FRMD4A FERM domain containing 4A [ Homo sapiens (human) ]

Gene ID: 55691, updated on 17-Jun-2019

Summary

Official Symbol
FRMD4Aprovided by HGNC
Official Full Name
FERM domain containing 4Aprovided by HGNC
Primary source
HGNC:HGNC:25491
See related
Ensembl:ENSG00000151474 MIM:616305
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FRMD4; CCAFCA; bA295P9.4
Summary
This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in fat (RPKM 10.5), skin (RPKM 7.3) and 25 other tissues See more
Orthologs

Genomic context

See FRMD4A in Genome Data Viewer
Location:
10p13
Exon count:
38
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (13638300..14330924, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (13685706..14372866, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376422 Neighboring gene ribosomal protein L6 pseudogene 24 Neighboring gene pre-mRNA processing factor 18 Neighboring gene uncharacterized LOC105376426 Neighboring gene RNA, 5S ribosomal pseudogene 301 Neighboring gene nuclear transport factor 2 pseudogene 5 Neighboring gene uncharacterized LOC105376425 Neighboring gene uncharacterized LOC101928453 Neighboring gene microRNA 4293 Neighboring gene microRNA 1265

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
MedGen: C4225193 OMIM: 616819 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
NHGRI GWA Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10210, KIAA1294

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding, bridging IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
establishment of epithelial cell polarity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adherens junction IEA
Inferred from Electronic Annotation
more info
 
bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
FERM domain-containing protein 4A
Names
FERM domain containing 4

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.

Genomic

  1. NG_047164.1 RefSeqGene

    Range
    4984..692162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318336.2NP_001305265.1  FERM domain-containing protein 4A isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two 5' exons but instead contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a.
    Source sequence(s)
    AC044781, AK001072, AK289693, AL157392, BC151244, BU073361
    UniProtKB/Swiss-Prot
    Q9P2Q2
    UniProtKB/TrEMBL
    Q9NW91
    Conserved Domains (5) summary
    smart00295
    Location:37237
    B41; Band 4.1 homologues
    cd13191
    Location:233343
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:123237
    FERM_M; FERM central domain
    pfam09379
    Location:40101
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:400507
    DUF3338; Domain of unknown function (DUF3338)
  2. NM_001318337.2NP_001305266.1  FERM domain-containing protein 4A isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two 5' exons but instead contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is longer than isoform a.
    Source sequence(s)
    AK094045, AK289693, AL157392, BU073361
    UniProtKB/Swiss-Prot
    Q9P2Q2
    Conserved Domains (5) summary
    smart00295
    Location:54254
    B41; Band 4.1 homologues
    cd13191
    Location:250360
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:140254
    FERM_M; FERM central domain
    pfam09379
    Location:57118
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:417524
    DUF3338; Domain of unknown function (DUF3338)
  3. NM_001318338.2NP_001305267.1  FERM domain-containing protein 4A isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several 5' exons but instead contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AK289693, AL157392, BP278325, BU073361
    UniProtKB/Swiss-Prot
    Q9P2Q2
    Conserved Domains (2) summary
    pfam11819
    Location:75182
    DUF3338; Domain of unknown function (DUF3338)
    cl17171
    Location:118
    PH-like; Pleckstrin homology-like domain
  4. NM_018027.5NP_060497.3  FERM domain-containing protein 4A isoform a

    See identical proteins and their annotated locations for NP_060497.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AC069025, AK289693, AL157392, BC151244, BU073361
    Consensus CDS
    CCDS7101.1
    UniProtKB/Swiss-Prot
    Q9P2Q2
    Related
    ENSP00000350032.2, ENST00000357447.7
    Conserved Domains (5) summary
    smart00295
    Location:21221
    B41; Band 4.1 homologues
    cd13191
    Location:217327
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:107221
    FERM_M; FERM central domain
    pfam09379
    Location:2485
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:384491
    DUF3338; Domain of unknown function (DUF3338)

RNA

  1. NR_134578.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) shares the first two exons with variant 1 but lacks the remaining exons, and instead contains alternate 3' exon structure. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AL157896, BC018891, BC151244

RefSeqs of Annotated Genomes: Homo sapiens 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_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    13638300..14330924 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016394.2XP_016871883.1  FERM domain-containing protein 4A isoform X16

  2. XM_011519543.3XP_011517845.1  FERM domain-containing protein 4A isoform X13

    Conserved Domains (5) summary
    smart00295
    Location:21221
    B41; Band 4.1 homologues
    cd13191
    Location:217327
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:107221
    FERM_M; FERM central domain
    pfam09379
    Location:2485
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:381503
    DUF3338; Domain of unknown function (DUF3338)
  3. XM_017016395.2XP_016871884.1  FERM domain-containing protein 4A isoform X17

  4. XM_024448071.1XP_024303839.1  FERM domain-containing protein 4A isoform X15

    Conserved Domains (3) summary
    smart00295
    Location:17217
    B41; Band 4.1 homologues
    cd13191
    Location:213323
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam11819
    Location:377498
    DUF3338; Domain of unknown function (DUF3338)
  5. XM_024448068.1XP_024303836.1  FERM domain-containing protein 4A isoform X12

    Conserved Domains (3) summary
    smart00295
    Location:17232
    B41; Band 4.1 homologues
    cd13191
    Location:228338
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam11819
    Location:392513
    DUF3338; Domain of unknown function (DUF3338)
  6. XM_024448067.1XP_024303835.1  FERM domain-containing protein 4A isoform X9

    Conserved Domains (3) summary
    smart00295
    Location:28243
    B41; Band 4.1 homologues
    cd13191
    Location:239349
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam11819
    Location:403524
    DUF3338; Domain of unknown function (DUF3338)
  7. XM_005252490.3XP_005252547.1  FERM domain-containing protein 4A isoform X11

    Conserved Domains (5) summary
    smart00295
    Location:37237
    B41; Band 4.1 homologues
    cd13191
    Location:233343
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:123237
    FERM_M; FERM central domain
    pfam09379
    Location:40101
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:397519
    DUF3338; Domain of unknown function (DUF3338)
  8. XM_011519539.2XP_011517841.1  FERM domain-containing protein 4A isoform X5

    Conserved Domains (5) summary
    smart00295
    Location:37252
    B41; Band 4.1 homologues
    cd13191
    Location:248358
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:123252
    FERM_M; FERM central domain
    pfam09379
    Location:40101
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:412534
    DUF3338; Domain of unknown function (DUF3338)
  9. XM_006717458.4XP_006717521.1  FERM domain-containing protein 4A isoform X2

    Conserved Domains (5) summary
    smart00295
    Location:54269
    B41; Band 4.1 homologues
    cd13191
    Location:265375
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:140269
    FERM_M; FERM central domain
    pfam09379
    Location:57118
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:429551
    DUF3338; Domain of unknown function (DUF3338)
  10. XM_011519541.2XP_011517843.1  FERM domain-containing protein 4A isoform X7

    Conserved Domains (5) summary
    smart00295
    Location:54269
    B41; Band 4.1 homologues
    cd13191
    Location:265375
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:140269
    FERM_M; FERM central domain
    pfam09379
    Location:57118
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:429551
    DUF3338; Domain of unknown function (DUF3338)
  11. XM_017016393.2XP_016871882.1  FERM domain-containing protein 4A isoform X8

  12. XM_011519540.2XP_011517842.1  FERM domain-containing protein 4A isoform X6

    Conserved Domains (5) summary
    smart00295
    Location:54269
    B41; Band 4.1 homologues
    cd13191
    Location:265375
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:140269
    FERM_M; FERM central domain
    pfam09379
    Location:57118
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:429551
    DUF3338; Domain of unknown function (DUF3338)
  13. XM_006717457.3XP_006717520.1  FERM domain-containing protein 4A isoform X1

    Conserved Domains (5) summary
    smart00295
    Location:54269
    B41; Band 4.1 homologues
    cd13191
    Location:265375
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:140269
    FERM_M; FERM central domain
    pfam09379
    Location:57118
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:429551
    DUF3338; Domain of unknown function (DUF3338)
  14. XM_006717460.3XP_006717523.1  FERM domain-containing protein 4A isoform X4

    Conserved Domains (5) summary
    smart00295
    Location:54254
    B41; Band 4.1 homologues
    cd13191
    Location:250360
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:140254
    FERM_M; FERM central domain
    pfam09379
    Location:57118
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:414536
    DUF3338; Domain of unknown function (DUF3338)
  15. XM_006717459.3XP_006717522.1  FERM domain-containing protein 4A isoform X3

    Conserved Domains (5) summary
    smart00295
    Location:54269
    B41; Band 4.1 homologues
    cd13191
    Location:265375
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:140269
    FERM_M; FERM central domain
    pfam09379
    Location:57118
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:432539
    DUF3338; Domain of unknown function (DUF3338)
  16. XM_005252489.3XP_005252546.1  FERM domain-containing protein 4A isoform X10

    Conserved Domains (5) summary
    smart00295
    Location:54254
    B41; Band 4.1 homologues
    cd13191
    Location:250360
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:140254
    FERM_M; FERM central domain
    pfam09379
    Location:57118
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:417524
    DUF3338; Domain of unknown function (DUF3338)
  17. XM_024448069.1XP_024303837.1  FERM domain-containing protein 4A isoform X14

    Conserved Domains (3) summary
    smart00295
    Location:6221
    B41; Band 4.1 homologues
    cd13191
    Location:217327
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam11819
    Location:381502
    DUF3338; Domain of unknown function (DUF3338)
  18. XM_024448070.1XP_024303838.1  FERM domain-containing protein 4A isoform X14

    Conserved Domains (3) summary
    smart00295
    Location:6221
    B41; Band 4.1 homologues
    cd13191
    Location:217327
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam11819
    Location:381502
    DUF3338; Domain of unknown function (DUF3338)
  19. XM_024448073.1XP_024303841.1  FERM domain-containing protein 4A isoform X19

    Conserved Domains (2) summary
    pfam11819
    Location:223330
    DUF3338; Domain of unknown function (DUF3338)
    cl17171
    Location:46167
    PH-like; Pleckstrin homology-like domain
  20. XM_024448072.1XP_024303840.1  FERM domain-containing protein 4A isoform X18

    Conserved Domains (2) summary
    pfam11819
    Location:221342
    DUF3338; Domain of unknown function (DUF3338)
    cl17171
    Location:46167
    PH-like; Pleckstrin homology-like domain
  21. XM_017016396.2XP_016871885.1  FERM domain-containing protein 4A isoform X21

  22. XM_024448074.1XP_024303842.1  FERM domain-containing protein 4A isoform X20

    Conserved Domains (2) summary
    pfam11819
    Location:72193
    DUF3338; Domain of unknown function (DUF3338)
    cl17171
    Location:118
    PH-like; Pleckstrin homology-like domain
  23. XM_005252495.5XP_005252552.1  FERM domain-containing protein 4A isoform X23

    Conserved Domains (1) summary
    pfam11819
    Location:25142
    DUF3338; Domain of unknown function (DUF3338)
  24. XM_006717464.2XP_006717527.1  FERM domain-containing protein 4A isoform X22

    Conserved Domains (1) summary
    pfam11819
    Location:38162
    DUF3338; Domain of unknown function (DUF3338)
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