MIP (major intrinsic protein of lens fiber)

2014-11-01  

Identity

HGNC
MIP
LOCATION
12q13.3
LOCUSID
4284
ALIAS
AQP0,CTRCT15,LIM1,MIP26,MP26
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4284
MIM: 154050
HGNC: 7103
Ensembl: ENSG00000135517

Variants:

dbSNP: 4284
ClinVar: 4284
TCGA: ENSG00000135517
COSMIC: MIP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135517ENST00000652304P30301

Expression (GTEx)

0
1
2
3
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

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Aquaporin-mediated transportREACTOMER-HSA-445717
Passive transport by AquaporinsREACTOMER-HSA-432047

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
eye
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
152746402004Post-translational modifications of aquaporin 0 (AQP0) in the normal human lens: spatial and temporal occurrence.61
198574662009Intact AQP0 performs cell-to-cell adhesion.49
178936672007A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family.42
165648242006Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.32
185013472008Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract.31
179601332007A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family.28
203610152010A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.21
191370772009Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.20
212459562011A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.20

Citation

Dessen P

MIP (major intrinsic protein of lens fiber)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68994/mip