Format

Send to:

Choose Destination

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

Gene ID: 143162, updated on 11-Sep-2019

Summary

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
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

Genomic context

See FRMPD2 in Genome Data Viewer
Location:
10q11.22
Exon count:
31
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (48156559..48274696, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (49364602..49482941, 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 ribosomal protein S6 pseudogene 14 Neighboring gene mitogen-activated protein kinase 8 Neighboring gene Rho GTPase activating protein 22

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001018071.4NP_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
    Related
    ENSP00000363317.3, ENST00000374201.8
    Conserved Domains (5) summary
    smart00228
    Location:9471034
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    smart00295
    Location:346550
    B41; Band 4.1 homologues
    smart00750
    Location:15197
    KIND; kinase non-catalytic C-lobe domain
    cd00992
    Location:773857
    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:546647
    FERM_C_PTPH13; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor 13 (PTPH13)
  2. NM_001042512.2NP_001035977.2  FERM and PDZ domain-containing protein 2 isoform 4

    See identical proteins and their annotated locations for NP_001035977.2

    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, AY491519, BC073954, DC425871
    UniProtKB/Swiss-Prot
    Q68DX3
    Conserved Domains (1) summary
    smart00228
    Location:89178
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
  3. NM_001318191.1NP_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/Swiss-Prot
    Q68DX3
    Related
    ENSP00000307079.3, ENST00000305531.3
    Conserved Domains (7) summary
    smart00228
    Location:9221009
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    smart00295
    Location:322525
    B41; Band 4.1 homologues
    cd00992
    Location:748832
    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:521622
    FERM_C_PTPH13; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor 13 (PTPH13)
    pfam00373
    Location:414525
    FERM_M; FERM central domain
    pfam09379
    Location:322384
    FERM_N; FERM N-terminal domain
    cl21453
    Location:13173
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    48156559..48274696 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015744.1XP_016871233.1  FERM and PDZ domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q68DX3
    Conserved Domains (1) summary
    smart00228
    Location:30119
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
  2. XM_011539327.2XP_011537629.1  FERM and PDZ domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011537629.1

    Conserved Domains (5) summary
    smart00295
    Location:346550
    B41; Band 4.1 homologues
    smart00750
    Location:15197
    KIND; kinase non-catalytic C-lobe domain
    cd13187
    Location:546647
    FERM_C_PTPH13; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor 13 (PTPH13)
    pfam00373
    Location:438550
    FERM_M; FERM central domain
    pfam09379
    Location:346408
    FERM_N; FERM N-terminal domain

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.
Support Center