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
38178039	2024	Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.	0
38178039	2024	Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.	0
35736209	2022	A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family.	3
35736209	2022	A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family.	3
32202185	2020	A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.	6
32202185	2020	A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.	6
27814360	2016	Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.	13
27814360	2016	Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.	13
21386927	2011	Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.	18
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.	3
21386927	2011	Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.	18
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.	3
18596884	2008	A missense mutation in LIM2 causes autosomal recessive congenital cataract.	27
18596884	2008	A missense mutation in LIM2 causes autosomal recessive congenital cataract.	27
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/gene-explorer/tumors-explorer/