LIM2 (lens intrinsic membrane protein 2)

2014-11-01 Affiliation

Identity

HGNC

LIM2

LOCATION

19q13.41

LOCUSID

3982

ALIAS

CTRCT19,MP17,MP19

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3982
MIM: 154045
HGNC: 6610
Ensembl: ENSG00000105370

Variants:

dbSNP: 3982
ClinVar: 3982
TCGA: ENSG00000105370
COSMIC: LIM2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000105370	ENST00000221973	P55344
ENSG00000105370	ENST00000596399	P55344

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
11917274	2002	A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.	52
18596884	2008	A missense mutation in LIM2 causes autosomal recessive congenital cataract.	21
21386927	2011	Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.	11
27814360	2016	Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.	4
22103961	2011	Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.	2
15968979	2004	Identification of a lens-specific cis-acting element within the basal promoter of the human lens intrinsic membrane protein MP19 gene (LIM2).	0

Citation

Dessen P

LIM2 (lens intrinsic membrane protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65268/lim2