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    FRMPD2 FERM and PDZ domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 143162, updated on 3-Apr-2024

    Summary

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    Official Symbol
    FRMPD2provided by HGNC
    Official Full Name
    FERM and PDZ domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:28572
    See related
    Ensembl:ENSG00000170324 MIM:613323; AllianceGenome:HGNC:28572
    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
    PDZK4; PDZD5C; PDZK5C
    Summary
    This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]
    Expression
    Biased expression in brain (RPKM 2.2), testis (RPKM 1.3) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q11.22
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (48156559..48274895, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (48998450..49123638, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (49364602..49482739, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene BMS1 pseudogene 7 Neighboring gene protein tyrosine phosphatase non-receptor type 20C, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:49394772-49395971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49397051-49398006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49441449-49441950 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:49450548-49450771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:49455107-49455608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49495838-49496338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2355 Neighboring gene ribosomal protein S6 pseudogene 14 Neighboring gene mitogen-activated protein kinase 8 Neighboring gene Sharpr-MPRA regulatory region 12210 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:49607374-49608116 Neighboring gene Rho GTPase activating protein 22

    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. RNAi screening identifies mediators of NOD2 signaling: implications for spatial specificity of MDP recognition. Lipinski S, et al. Proc Natl Acad Sci U S A, 2012 Dec 26. PMID 23213202, Free PMC Article
    2. Interaction between very-KIND Ras guanine exchange factor and microtubule-associated protein 2, and its role in dendrite growth--structure and function of the second kinase noncatalytic C-lobe domain. Huang J, et al. FEBS J, 2011 May. PMID 21385318
    3. PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells. Stenzel N, et al. J Cell Sci, 2009 Sep 15. PMID 19706687
    4. Quantifying domain-ligand affinities and specificities by high-throughput holdup assay. Vincentelli R, et al. Nat Methods, 2015 Aug. PMID 26053890, Free PMC Article
    5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. These results provide novel insights into the molecular function of FRMPD2 and into the targeting mechanism of peripheral membrane proteins in polarized epithelial cells.
      Title: PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    • MGC35285, MGC87776, MGC87777, MGC90186, MGC178184, MGC178187

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 1-phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bicellular tight junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in bicellular tight junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in apical part of cell IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in bicellular tight junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    FERM and PDZ domain-containing protein 2
    Names
    PDZ domain containing 5C
    PDZ domain-containing protein 4

    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_001018071.4 → NP_001018081.4  FERM and PDZ domain-containing protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC013284, AC074325
      Consensus CDS
      CCDS31195.1
      UniProtKB/Swiss-Prot
      B7WNW0, B7ZML5, Q2VY07, Q68DX3, Q6GMQ9, Q6ZN38, Q6ZWI2, Q8N5T9
      UniProtKB/TrEMBL
      A0A1B0GUQ4
      Related
      ENSP00000363317.3, ENST00000374201.8
      Conserved Domains (5) summary
      smart00228
      Location:947 → 1034
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      smart00295
      Location:346 → 550
      B41; Band 4.1 homologues
      smart00750
      Location:15 → 197
      KIND; kinase non-catalytic C-lobe domain
      cd00992
      Location:773 → 857
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd13187
      Location:546 → 647
      FERM_C_PTPH13; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor 13 (PTPH13)

    2. NM_001042512.3 → NP_001035977.3  FERM and PDZ domain-containing protein 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks several 5' exons but contains an alternate 5' exon, and it thus differs in the 5' UTR and 5' coding region, compared to variant 3. The encoded isoform (4) has a distinct and significantly shorter N-terminus, compared to isoform 3.
      Source sequence(s)
      AC013284
      UniProtKB/Swiss-Prot
      B2RPG2, Q5RJ30, Q6IN97
      UniProtKB/TrEMBL
      B7ZML6
      Related
      ENST00000491130.5
      Conserved Domains (1) summary
      smart00228
      Location:89 → 178
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

    3. NM_001318191.1 → NP_001305120.1  FERM and PDZ domain-containing protein 2 isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, and it also lacks an in-frame exon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 3. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform 3.
      Source sequence(s)
      AC013284, AK123038, CR749241, DC425871
      Consensus CDS
      CCDS81460.1
      UniProtKB/TrEMBL
      A0A1B0GUQ4
      Related
      ENSP00000307079.3, ENST00000305531.3
      Conserved Domains (7) summary
      smart00228
      Location:922 → 1009
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      smart00295
      Location:322 → 525
      B41; Band 4.1 homologues
      cd00992
      Location:748 → 832
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd13187
      Location:521 → 622
      FERM_C_PTPH13; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor 13 (PTPH13)
      pfam00373
      Location:414 → 525
      FERM_M; FERM central domain
      pfam09379
      Location:322 → 384
      FERM_N; FERM N-terminal domain
      cl21453
      Location:13 → 173
      PKc_like; Protein Kinases, catalytic domain

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      48156559..48274895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015744.2 → XP_016871233.1  FERM and PDZ domain-containing protein 2 isoform X5

      UniProtKB/TrEMBL
      B2R966
      Conserved Domains (1) summary
      smart00228
      Location:30 → 119
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

    2. XM_047424652.1 → XP_047280608.1  FERM and PDZ domain-containing protein 2 isoform X1

    3. XM_047424653.1 → XP_047280609.1  FERM and PDZ domain-containing protein 2 isoform X2

    4. XM_011539327.3 → XP_011537629.1  FERM and PDZ domain-containing protein 2 isoform X3

      See identical proteins and their annotated locations for XP_011537629.1

      Conserved Domains (5) summary
      smart00295
      Location:346 → 550
      B41; Band 4.1 homologues
      smart00750
      Location:15 → 197
      KIND; kinase non-catalytic C-lobe domain
      cd13187
      Location:546 → 647
      FERM_C_PTPH13; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor 13 (PTPH13)
      pfam00373
      Location:438 → 550
      FERM_M; FERM central domain
      pfam09379
      Location:346 → 408
      FERM_N; FERM N-terminal domain

    5. XM_047424654.1 → XP_047280610.1  FERM and PDZ domain-containing protein 2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      48998450..49123638 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364899.1 → XP_054220874.1  FERM and PDZ domain-containing protein 2 isoform X11

    2. XM_054364897.1 → XP_054220872.1  FERM and PDZ domain-containing protein 2 isoform X9

    3. XM_054364896.1 → XP_054220871.1  FERM and PDZ domain-containing protein 2 isoform X8

    4. XM_054364894.1 → XP_054220869.1  FERM and PDZ domain-containing protein 2 isoform X6

    5. XM_054364898.1 → XP_054220873.1  FERM and PDZ domain-containing protein 2 isoform X10

    6. XM_054364895.1 → XP_054220870.1  FERM and PDZ domain-containing protein 2 isoform X7

    7. XM_054364900.1 → XP_054220875.1  FERM and PDZ domain-containing protein 2 isoform X3

    8. XM_054364901.1 → XP_054220876.1  FERM and PDZ domain-containing protein 2 isoform X12

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001017929.2: Suppressed sequence

      Description
      NM_001017929.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

    2. NM_152428.4: Suppressed sequence

      Description
      NM_152428.4: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68DX3.3 GenPept UniProtKB/Swiss-Prot:Q68DX3

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