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    FRMD4B FERM domain containing 4B [ Homo sapiens (human) ]

    Gene ID: 23150, updated on 3-Apr-2024

    Summary

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    Official Symbol
    FRMD4Bprovided by HGNC
    Official Full Name
    FERM domain containing 4Bprovided by HGNC
    Primary source
    HGNC:HGNC:24886
    See related
    Ensembl:ENSG00000114541 MIM:617467; AllianceGenome:HGNC:24886
    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
    GRSP1; 6030440G05Rik
    Summary
    This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]
    Expression
    Ubiquitous expression in spleen (RPKM 7.8), esophagus (RPKM 7.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3p14.1
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (69168782..69542586, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (69205753..69579785, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (69217933..69435239, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20053 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:69152971-69154170 Neighboring gene NANOG hESC enhancer GRCh37_chr3:69160043-69160544 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:69170601-69171800 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:69193854-69194511 Neighboring gene ADP ribosylation factor like GTPase 6 interacting protein 5 Neighboring gene ubiquitin like modifier activating enzyme 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:69280094-69280858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:69284177-69284678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:69284679-69285178 Neighboring gene leiomodin 3 Neighboring gene NANOG hESC enhancer GRCh37_chr3:69298106-69298630 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:69337315-69338305 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:69434706-69435316 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:69441946-69442574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:69470329-69470828 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:69469827-69470328 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:69511585-69512085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:69534465-69535137 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:69560923-69561519 Neighboring gene RNA binding motif protein 43 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:69655392-69655947 Neighboring gene H1-8 pseudogene 1 Neighboring gene NFE2L2 motif-containing MPRA enhancer 231 Neighboring gene MITF-A promoter region Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:69818568-69819767 Neighboring gene RNA, 7SL, cytoplasmic 418, pseudogene Neighboring gene MITF-H promoter region Neighboring gene melanocyte inducing transcription factor Neighboring gene MITF-M distal enhancer Neighboring gene MITF-M promoter region Neighboring gene survival associated mitochondrial melanoma specific oncogenic non-coding RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20057 Neighboring gene RNA binding region (RNP1, RRM) containing 3 pseudogene 1

    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
    • 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. Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure. Matkovich SJ, et al. Clin Transl Sci, 2010 Aug. PMID 20718813, Free PMC Article
    2. Common variants in HSPB7 and FRMD4B associated with advanced heart failure. Cappola TP, et al. Circ Cardiovasc Genet, 2010 Apr. PMID 20124441, Free PMC Article
    3. Signaling complexes of the FERM domain-containing protein GRSP1 bound to ARF exchange factor GRP1. Klarlund JK, et al. J Biol Chem, 2001 Oct 26. PMID 11445584
    4. Genome-wide association with bone mass and geometry in the Framingham Heart Study. Kiel DP, et al. BMC Med Genet, 2007 Sep 19. PMID 17903296, Free PMC Article
    5. The RNF146 and tankyrase pathway maintains the junctional Crumbs complex through regulation of angiomotin. Campbell CI, et al. J Cell Sci, 2016 Sep 15. PMID 27521426

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. association between the intronic rs6787362 FRMD4B SNP and ischemic cardiomyopathy in a European-derived population, but not FRMD4B variants as susceptibility factors in common heart failure
      Title: Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure.
    4. SNP is located in a 3' intronic region of the FRMD4B gene. FRMD4B as novel susceptibility loci for advanced heart failure.
      Title: Common variants in HSPB7 and FRMD4B associated with advanced heart failure.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association with bone mass and geometry in the Framingham Heart Study.
    EBI GWAS Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1013

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in establishment of epithelial cell polarity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in bicellular tight junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in ruffle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    FERM domain-containing protein 4B
    Names
    GRP1-binding protein GRSP1

    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.

    Genomic

    1. NG_034059.2 RefSeqGene

      Range
      161498..378804
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015123.3 → NP_055938.2  FERM domain-containing protein 4B

      Status: REVIEWED

      Source sequence(s)
      AC112221, AC135851
      Consensus CDS
      CCDS46863.1
      UniProtKB/Swiss-Prot
      Q8TAI3, Q9Y2L6
      UniProtKB/TrEMBL
      B4DHD5
      Related
      ENSP00000381549.3, ENST00000398540.8
      Conserved Domains (3) summary
      smart00295
      Location:75 → 260
      B41; Band 4.1 homologues
      cd13191
      Location:256 → 366
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      pfam11819
      Location:395 → 528
      DUF3338; Domain of unknown function (DUF3338)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      69168782..69542586 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005993.2 → XP_016861482.1  FERM domain-containing protein 4B isoform X5

      UniProtKB/TrEMBL
      B4DHD5
      Conserved Domains (5) summary
      smart00295
      Location:21 → 206
      B41; Band 4.1 homologues
      cd13191
      Location:202 → 312
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      pfam00373
      Location:92 → 206
      FERM_M; FERM central domain
      pfam09379
      Location:21 → 70
      FERM_N; FERM N-terminal domain
      pfam11819
      Location:347 → 475
      DUF3338; Domain of unknown function (DUF3338)

    2. XM_047447767.1 → XP_047303723.1  FERM domain-containing protein 4B isoform X3

    3. XM_047447771.1 → XP_047303727.1  FERM domain-containing protein 4B isoform X5

    4. XM_047447769.1 → XP_047303725.1  FERM domain-containing protein 4B isoform X5

    5. XM_017005991.2 → XP_016861480.1  FERM domain-containing protein 4B isoform X3

      UniProtKB/TrEMBL
      B4DHD5

    6. XM_017005989.2 → XP_016861478.1  FERM domain-containing protein 4B isoform X1

    7. XM_047447770.1 → XP_047303726.1  FERM domain-containing protein 4B isoform X5

    8. XM_005264722.2 → XP_005264779.1  FERM domain-containing protein 4B isoform X4

      UniProtKB/TrEMBL
      B4DHD5
      Conserved Domains (5) summary
      smart00295
      Location:30 → 215
      B41; Band 4.1 homologues
      cd13191
      Location:211 → 321
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      pfam00373
      Location:101 → 215
      FERM_M; FERM central domain
      pfam09379
      Location:30 → 79
      FERM_N; FERM N-terminal domain
      pfam11819
      Location:356 → 484
      DUF3338; Domain of unknown function (DUF3338)

    9. XM_017005990.2 → XP_016861479.1  FERM domain-containing protein 4B isoform X2

      UniProtKB/TrEMBL
      B4DHD5

    10. XM_047447768.1 → XP_047303724.1  FERM domain-containing protein 4B isoform X3

    11. XM_017005994.2 → XP_016861483.1  FERM domain-containing protein 4B isoform X5

      UniProtKB/TrEMBL
      B4DHD5
      Conserved Domains (5) summary
      smart00295
      Location:21 → 206
      B41; Band 4.1 homologues
      cd13191
      Location:202 → 312
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      pfam00373
      Location:92 → 206
      FERM_M; FERM central domain
      pfam09379
      Location:21 → 70
      FERM_N; FERM N-terminal domain
      pfam11819
      Location:347 → 475
      DUF3338; Domain of unknown function (DUF3338)

    12. XM_017005992.2 → XP_016861481.1  FERM domain-containing protein 4B isoform X3

      UniProtKB/TrEMBL
      B4DHD5

    13. XM_047447772.1 → XP_047303728.1  FERM domain-containing protein 4B isoform X6

    14. XM_017005995.2 → XP_016861484.1  FERM domain-containing protein 4B isoform X6

      UniProtKB/TrEMBL
      B4DHD5
      Conserved Domains (1) summary
      cd13191
      Location:11 → 121
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)

    15. XM_017005996.2 → XP_016861485.1  FERM domain-containing protein 4B isoform X7

      UniProtKB/TrEMBL
      E9PGA7

    16. XM_047447773.1 → XP_047303729.1  FERM domain-containing protein 4B isoform X8

    17. XM_017005997.2 → XP_016861486.1  FERM domain-containing protein 4B isoform X9

      UniProtKB/TrEMBL
      E9PGA7
      Related
      ENSP00000418682.1, ENST00000478263.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      69205753..69579785 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345805.1 → XP_054201780.1  FERM domain-containing protein 4B isoform X5

    2. XM_054345800.1 → XP_054201775.1  FERM domain-containing protein 4B isoform X3

    3. XM_054345808.1 → XP_054201783.1  FERM domain-containing protein 4B isoform X5

    4. XM_054345806.1 → XP_054201781.1  FERM domain-containing protein 4B isoform X5

    5. XM_054345803.1 → XP_054201778.1  FERM domain-containing protein 4B isoform X3

    6. XM_054345798.1 → XP_054201773.1  FERM domain-containing protein 4B isoform X1

    7. XM_054345807.1 → XP_054201782.1  FERM domain-containing protein 4B isoform X5

    8. XM_054345804.1 → XP_054201779.1  FERM domain-containing protein 4B isoform X4

    9. XM_054345799.1 → XP_054201774.1  FERM domain-containing protein 4B isoform X2

    10. XM_054345801.1 → XP_054201776.1  FERM domain-containing protein 4B isoform X3

    11. XM_054345809.1 → XP_054201784.1  FERM domain-containing protein 4B isoform X5

    12. XM_054345802.1 → XP_054201777.1  FERM domain-containing protein 4B isoform X3

    13. XM_054345811.1 → XP_054201786.1  FERM domain-containing protein 4B isoform X6

    14. XM_054345810.1 → XP_054201785.1  FERM domain-containing protein 4B isoform X6

    15. XM_054345812.1 → XP_054201787.1  FERM domain-containing protein 4B isoform X7

    16. XM_054345813.1 → XP_054201788.1  FERM domain-containing protein 4B isoform X8

    17. XM_054345814.1 → XP_054201789.1  FERM domain-containing protein 4B isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2L6.4 GenPept UniProtKB/Swiss-Prot:Q9Y2L6

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