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    LIM2 lens intrinsic membrane protein 2 [ Homo sapiens (human) ]

    Gene ID: 3982, updated on 2-Nov-2024

    Summary

    Official Symbol
    LIM2provided by HGNC
    Official Full Name
    lens intrinsic membrane protein 2provided by HGNC
    Primary source
    HGNC:HGNC:6610
    See related
    Ensembl:ENSG00000105370 MIM:154045; AllianceGenome:HGNC:6610
    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
    MP17; MP19; CTRCT19
    Summary
    This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See LIM2 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (51379909..51387974, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54468540..54476605, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51883163..51891228, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51869249-51870208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51871167-51872126 Neighboring gene claudin domain containing 2 Neighboring gene uncharacterized LOC124904752 Neighboring gene natural killer cell granule protein 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:51879781-51880038 Neighboring gene LIM2 and SIGLEC10 antisense RNA 1 Neighboring gene chromosome 19 open reading frame 84 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:51897116-51897712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15015 Neighboring gene NIFK pseudogene 6

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables structural constituent of eye lens IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cell-cell junction assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell junction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    lens fiber membrane intrinsic protein
    Names
    MP18
    MP20
    lens intrinsic membrane protein 2, 19kDa

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012924.1 RefSeqGene

      Range
      4983..13048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001161748.2NP_001155220.1  lens fiber membrane intrinsic protein isoform 2

      See identical proteins and their annotated locations for NP_001155220.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate, in-frame donor splice site at the 5' coding exon compared to variant 1. This results in a shorter isoform (2) missing a 42 aa protein segment compared to isoform 1.
      Source sequence(s)
      AC008750, AF340020, BU734982, CD675859
      Consensus CDS
      CCDS59415.1
      UniProtKB/Swiss-Prot
      P55344, Q6B083, Q9BXD0, Q9HAR5
      Related
      ENSP00000472090.2, ENST00000596399.2
      Conserved Domains (1) summary
      cl21598
      Location:1157
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    2. NM_030657.4NP_085915.2  lens fiber membrane intrinsic protein isoform 1

      See identical proteins and their annotated locations for NP_085915.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC008750, AF340019, BU734982, CD675859
      Consensus CDS
      CCDS12831.1
      UniProtKB/Swiss-Prot
      P55344
      Related
      ENSP00000221973.2, ENST00000221973.7
      Conserved Domains (1) summary
      cl21598
      Location:1199
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      51379909..51387974 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      54468540..54476605 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)