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    PDLIM2 PDZ and LIM domain 2 [ Homo sapiens (human) ]

    Gene ID: 64236, updated on 9-Jul-2017
    Official Symbol
    PDLIM2provided by HGNC
    Official Full Name
    PDZ and LIM domain 2provided by HGNC
    Primary source
    HGNC:HGNC:13992
    See related
    Ensembl:ENSG00000120913 MIM:609722; Vega:OTTHUMG00000164270
    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
    SLIM; MYSTIQUE
    Summary
    This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
    Orthologs
    Location:
    8p21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (22578741..22598025)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22435805..22455538)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 3 catalytic subunit gamma Neighboring gene basic transcription factor 3, pseudogene 3 Neighboring gene sorbin and SH3 domain containing 3 Neighboring gene proline-rich proteoglycan 2-like Neighboring gene chromosome 8 open reading frame 58 Neighboring gene cell cycle and apoptosis regulator 2 Neighboring gene bridging integrator 3

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ34715

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    PDZ and LIM domain protein 2

    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_030435.1 RefSeqGene

      Range
      5001..20558
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021630.5NP_067643.3  PDZ and LIM domain protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in both UTRs and in the 5' and 3' coding regions, compared to variant 1. The resulting isoform (2) has distinct N- and C-termini and is longer than isoform 1.
      Source sequence(s)
      AK027800, AK092968, BM674373, DN997519
      Consensus CDS
      CCDS6032.2
      UniProtKB/Swiss-Prot
      Q96JY6
      Related
      ENSP00000312634.7, OTTHUMP00000162522, ENST00000308354.11, OTTHUMT00000254648
      Conserved Domains (3) summary
      cd09449
      Location:536588
      LIM_Mystique; The LIM domain of Mystique, a subfamily of ALP LIM domain proteins
      cd00992
      Location:259330
      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) ...
      pfam15936
      Location:462505
      DUF4749; Domain of unknown function (DUF4749)
    2. NM_176871.3NP_789847.1  PDZ and LIM domain protein 2 isoform 1

      See identical proteins and their annotated locations for NP_789847.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      AC037459, AY070438, AY217349
      Consensus CDS
      CCDS34860.1
      UniProtKB/Swiss-Prot
      Q96JY6
      Related
      ENSP00000265810.4, OTTHUMP00000205199, ENST00000265810.8, OTTHUMT00000334169
      Conserved Domains (3) summary
      cd09449
      Location:286342
      LIM_Mystique; The LIM domain of Mystique, a subfamily of ALP LIM domain proteins
      cd00992
      Location:980
      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) ...
      pfam15936
      Location:212255
      DUF4749; Domain of unknown function (DUF4749)
    3. NM_198042.3NP_932159.1  PDZ and LIM domain protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC037459, AY070438, BM674373
      Consensus CDS
      CCDS34861.1
      UniProtKB/Swiss-Prot
      Q96JY6
      Related
      ENSP00000386868.1, OTTHUMP00000205200, ENST00000409141.5, OTTHUMT00000334170
      Conserved Domains (2) summary
      cd00992
      Location:980
      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) ...
      pfam15936
      Location:212257
      DUF4749; Domain of unknown function (DUF4749)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      22578741..22598025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      22638615..22657872
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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