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LIM2 lens intrinsic membrane protein 2, 19kDa [ Homo sapiens (human) ]

Gene ID: 3982, updated on 4-Jul-2015
Official Symbol
LIM2provided by HGNC
Official Full Name
lens intrinsic membrane protein 2, 19kDaprovided by HGNC
Primary source
HGNC:HGNC:6610
See related
Ensembl:ENSG00000105370; HPRD:01097; MIM:154045; Vega:OTTHUMG00000182896
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]
Orthologs
See LIM2 in Epigenomics, MapViewer
Location:
19q13.4
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (51379909..51387956, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51883163..51891210, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372445 Neighboring gene claudin domain containing 2 Neighboring gene natural killer cell granule protein 7 Neighboring gene chromosome 19 open reading frame 84 Neighboring gene uncharacterized LOC105372446 Neighboring gene nucleolar protein interacting with the FHA domain of MKI67 pseudogene 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
structural constituent of eye lens IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell-cell junction assembly NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell junction NAS
Non-traceable Author Statement
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
vesicle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
lens fiber membrane intrinsic protein
Names
MP18
MP20

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
    5001..13048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001161748.1NP_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)
    AF340020, BU734982, CD675859
    Consensus CDS
    CCDS59415.1
    UniProtKB/Swiss-Prot
    P55344
    Related
    ENSP00000472090, OTTHUMP00000270455, ENST00000596399, OTTHUMT00000464247
    Conserved Domains (1) summary
    cl21598
    Location:1157
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction
  2. NM_030657.3NP_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)
    AF340019, BU734982, CD675859
    Consensus CDS
    CCDS12831.1
    UniProtKB/Swiss-Prot
    P55344
    Related
    ENSP00000221973, OTTHUMP00000270454, ENST00000221973, OTTHUMT00000464246
    Conserved Domains (1) summary
    cl21598
    Location:1199
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    51379909..51387956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    51885115..51893162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)