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

    Gene ID: 84978, updated on 10-Dec-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, Dec 2024]
    Expression
    Biased expression in brain (RPKM 6.9), heart (RPKM 4.6) and 4 other tissues See more
    Orthologs
    mouse all
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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

    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. 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
    4. 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
    5. FERM-containing protein FRMD5 is a p120-catenin interacting protein that regulates tumor progression. Wang T, et al. FEBS Lett, 2012 Sep 21. PMID 22846708

    See all (26) 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, H0Y5N1
      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

      UniProtKB/TrEMBL
      H0Y5N1

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

      UniProtKB/TrEMBL
      H0Y5N1

    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

      UniProtKB/TrEMBL
      H0Y5N1

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

      UniProtKB/TrEMBL
      H0Y5N1

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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