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

Gene ID: 3982, updated on 23-Nov-2021

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
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
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Genomic context

See LIM2 in Genome Data Viewer
Location:
19q13.41
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (51379909..51387974, complement)
105.20201022 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 claudin domain containing 2 Neighboring gene natural killer cell granule protein 7 Neighboring gene LIM2 and SIGLEC10 antisense RNA 1 Neighboring gene chromosome 19 open reading frame 84 Neighboring gene nucleolar protein interacting with the FHA domain of MKI67 pseudogene 6

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

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 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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.

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
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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