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FRMD5 FERM domain containing 5 [ Homo sapiens (human) ]

Gene ID: 84978, updated on 2-Nov-2024

Summary

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Official Symbol
FRMD5provided by HGNC
Official Full Name
FERM domain containing 5provided by HGNC
Primary source
HGNC:HGNC:28214
See related
Ensembl:ENSG00000171877 MIM:616309; AllianceGenome:HGNC:28214
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
NEDEMA
Summary
Enables integrin binding activity and protein kinase binding activity. Involved in negative regulation of cell motility; positive regulation of cell adhesion; and regulation of cell migration. Located in adherens junction. Implicated in neurodevelopmental disorder with eye movement abnormalities and ataxia. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in brain (RPKM 6.9), heart (RPKM 4.6) and 4 other tissues See more
Orthologs
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Genomic context

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See FRMD5 in Genome Data Viewer
Location:
15q15.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43870764..44199473, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41678124..42006910, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (44162962..44487469, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9330 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:44104820-44106019 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:44116704-44117335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6390 Neighboring gene microfibril associated protein 1 Neighboring gene VISTA enhancer hs1881 Neighboring gene WD repeat domain 76 Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 4 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:44220113-44220764 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:44220765-44221414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9333 Neighboring gene NANOG hESC enhancer GRCh37_chr15:44265102-44265603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44281101-44281938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44281939-44282775 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:44313333-44313547 Neighboring gene ACTB pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 1582 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 55 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6393 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:44487353-44487854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:44487855-44488354 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:44489254-44489489 Neighboring gene MPRA-validated peak2318 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr15:44554114-44554319 Neighboring gene Sharpr-MPRA regulatory region 13790 Neighboring gene Sharpr-MPRA regulatory region 4392 Neighboring gene Sharpr-MPRA regulatory region 4287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9336 Neighboring gene golgi membrane protein 2 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 43 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:44695413-44695632 Neighboring gene uncharacterized LOC124903479

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures. Keller Sarmiento IJ, et al. Mov Disord, 2024 Jul. PMID 38576116
  2. Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid Carcinoma. Gaweł AM, et al. Int J Mol Sci, 2021 Jun 23. PMID 34201607, Free PMC Article
  3. Integrative variants, haplotypes and diplotypes of the CAPN3 and FRMD5 genes and several environmental exposures associate with serum lipid variables. Guo T, et al. Sci Rep, 2017 Mar 23. PMID 28332615, Free PMC Article
  4. De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. Lu S, et al. Am J Hum Genet, 2022 Oct 6. PMID 36206744, Free PMC Article
  5. C-terminal truncated HBx protein activates caveolin-1/LRP6/β-catenin/FRMD5 axis in promoting hepatocarcinogenesis. Mao X, et al. Cancer Lett, 2019 Mar 1. PMID 30583072

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
    Title: De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
  2. De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
    Title: De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
  3. Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid Carcinoma.
    Title: Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid Carcinoma.
  4. High FRMD5 expression is associated with hepatocarcinogenesis.
    Title: C-terminal truncated HBx protein activates caveolin-1/LRP6/β-catenin/FRMD5 axis in promoting hepatocarcinogenesis.
  5. We conclude that integrative variants, haplotypes and diplotypes of the CAPN3 rs4344713 and FRMD5 rs524908, as well as DBP and BMI are associated with serum lipid variables in the Jing and Han populations.
    Title: Integrative variants, haplotypes and diplotypes of the CAPN3 and FRMD5 genes and several environmental exposures associate with serum lipid variables.
  6. Data show that FERM domain-containing protein 5 (FRMD5) is regulated by both beta-catenin and transcription factor 7-Like 2 protein (TCF7L2) in colon cancer cells.
    Title: Identification of FERM domain-containing protein 5 as a novel target of β-catenin/TCF7L2 complex.
  7. FRMD5 regulates tumor cell motility via a dual pathway involving FRMD5 binding to integrin beta5 tail and to ROCK1
    Title: FERM domain-containing protein FRMD5 regulates cell motility via binding to integrin β5 subunit and ROCK1.
  8. FRMD5 may play a role in p120-catenin-based cell-cell contact and is involved in the regulation of tumor progression
    Title: FERM-containing protein FRMD5 is a p120-catenin interacting protein that regulates tumor progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with eye movement abnormalities and ataxia
MedGen: C5774241 OMIM: 620094 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ41022, MGC14161

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
  
enables integrin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in actomyosin structure organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of cell motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in adherens junction IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
FERM domain-containing protein 5

NCBI Reference Sequences (RefSeq)

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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_001286490.2 → NP_001273419.1  FERM domain-containing protein 5 isoform 3

    See identical proteins and their annotated locations for NP_001273419.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 2. It initiates translation at a downstream in-frame start codon. The encoded isoform (3) is shorter than isoform 2.
    Source sequence(s)
    AC023356, AK123018, BC020191, DA276649
    Consensus CDS
    CCDS73716.1
    UniProtKB/TrEMBL
    B3KVN9, H0YKW6
    Related
    ENSP00000452968.1, ENST00000484674.5
    Conserved Domains (3) summary
    pfam00373
    Location:15 → 121
    FERM_M; FERM central domain
    pfam08736
    Location:215 → 260
    FA; FERM adjacent (FA)
    cl17171
    Location:102 → 201
    PH-like; Pleckstrin homology-like domain

  2. NM_001286491.2 → NP_001273420.1  FERM domain-containing protein 5 isoform 4

    See identical proteins and their annotated locations for NP_001273420.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains multiple differences in the coding region and initiates translation at an alternate downstream start codon, compared to variant 2. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 2.
    Source sequence(s)
    AC023356, BC043486, HY049131
    Consensus CDS
    CCDS73715.1
    UniProtKB/TrEMBL
    A0A087WVP2
    Related
    ENSP00000479575.1, ENST00000618556.4
    Conserved Domains (2) summary
    pfam08736
    Location:75 → 109
    FA; FERM adjacent (FA)
    cl17171
    Location:7 → 61
    PH-like; Pleckstrin homology-like domain

  3. NM_001322949.2 → NP_001309878.1  FERM domain-containing protein 5 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC023356, AC073940
    UniProtKB/TrEMBL
    H0Y5N1
    Conserved Domains (5) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    cd13192
    Location:191 → 295
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam00373
    Location:104 → 210
    FERM_M; FERM central domain
    pfam08736
    Location:309 → 343
    FA; FERM adjacent (FA)
    pfam09379
    Location:21 → 84
    FERM_N; FERM N-terminal domain

  4. NM_001322950.2 → NP_001309879.1  FERM domain-containing protein 5 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC023356, AC073940
    UniProtKB/TrEMBL
    H0Y5N1
    Related
    ENSP00000399684.1, ENST00000449926.5
    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    cd13192
    Location:191 → 295
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam08736
    Location:309 → 354
    FA; FERM adjacent (FA)

  5. NM_001322951.2 → NP_001309880.1  FERM domain-containing protein 5 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC023356, AC073940
    UniProtKB/TrEMBL
    H0Y5N1

  6. NM_001411124.1 → NP_001398053.1  FERM domain-containing protein 5 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC023356, AC073940
    Consensus CDS
    CCDS91990.1
    UniProtKB/TrEMBL
    B5MC67
    Related
    ENSP00000384142.1, ENST00000402883.5

  7. NM_032892.5 → NP_116281.2  FERM domain-containing protein 5 isoform 2

    See identical proteins and their annotated locations for NP_116281.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (2).
    Source sequence(s)
    AC023356, BC053647, DA276649, HY049131
    Consensus CDS
    CCDS10107.2
    UniProtKB/Swiss-Prot
    Q7Z6J6, Q8NBG4
    UniProtKB/TrEMBL
    H0Y5N1
    Related
    ENSP00000403067.1, ENST00000417257.6
    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    cd13192
    Location:191 → 295
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam08736
    Location:309 → 354
    FA; FERM adjacent (FA)

RNA

  1. NR_104455.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate internal exon and uses an alternate splice site at an internal exon, compared to variant 2. This variant is represented as non-coding because the predicted ORF does not meet RefSeq quality criteria.
    Source sequence(s)
    AC023356, BC007796, BC043486, HY049131

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    43870764..44199473 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433194.1 → XP_047289150.1  FERM domain-containing protein 5 isoform X1

  2. XM_047433193.1 → XP_047289149.1  FERM domain-containing protein 5 isoform X1

  3. XM_047433195.1 → XP_047289151.1  FERM domain-containing protein 5 isoform X2

    UniProtKB/TrEMBL
    A8K1U8

RNA

  1. XR_931927.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    41678124..42006910 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379030.1 → XP_054235005.1  FERM domain-containing protein 5 isoform X1

  2. XM_054379029.1 → XP_054235004.1  FERM domain-containing protein 5 isoform X1

  3. XM_054379031.1 → XP_054235006.1  FERM domain-containing protein 5 isoform X2

    UniProtKB/TrEMBL
    A8K1U8

RNA

  1. XR_008489026.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z6J6.1 GenPept UniProtKB/Swiss-Prot:Q7Z6J6

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