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

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.
Title: Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.
A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family.
Title: A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family.
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.
Title: A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.
A novel missense mutation in LIM2 is responsible for autosomal recessive congenital cataracts.
Title: Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
we report the absence of mutations in all studied genes in four families with phenotypes associating cataract, mental retardation and microcephaly.
Title: Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.
The genetic mutation in GJA3, GJA8, and LIM2 may slightly contribute to the development of age-related cataracts.
Title: Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.
Since the LIM2 gene promoter does not contain a classic TATA box, the Hsu element may serve as the site for binding the RNA polymerase complex.
Title: Identification of a lens-specific cis-acting element within the basal promoter of the human lens intrinsic membrane protein MP19 gene (LIM2).
This study shows the involvement of LIM2 in human congenital cataract.
Title: A missense mutation in LIM2 causes autosomal recessive congenital cataract.
A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family
Title: A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cataract 19 multiple types MedGen: C3809004 OMIM: 615277 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:373986 (e-PCR)
- UniSTS:156932

NoName (e-PCR)
- UniSTS:486167

NoName (e-PCR)
- UniSTS:482181

NoName (e-PCR)
- UniSTS:480459

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

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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

NG_012924.1 RefSeqGene

Range

4983..13048

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001161748.2 → NP_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:1 → 157

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_030657.4 → NP_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:1 → 199

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family