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

Gene ID: 143162, updated on 2-Nov-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
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Genomic context

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See FRMPD2 in Genome Data Viewer
Location:
10q11.22
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (48156559..48274895, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (48998450..49123638, complement)
RS_2024_09 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 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
  
located_in postsynaptic density IEA
Inferred from Electronic Annotation
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_2024_08

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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