MIP (major intrinsic protein of lens fiber)

2014-11-01 Affiliation

Identity

HGNC

MIP

LOCATION

12q13.3

LOCUSID

4284

ALIAS

AQP0,CTRCT15,LIM1,MIP26,MP26

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: 4284
MIM: 154050
HGNC: 7103
Ensembl: ENSG00000135517

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000135517	ENST00000652304	P30301

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

Pathways

Pathway	Source	External ID
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Aquaporin-mediated transport	REACTOME	R-HSA-445717
Passive transport by Aquaporins	REACTOME	R-HSA-432047

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38032258	2024	The role of phosphorylation in calmodulin-mediated gating of human AQP0.	1
38153133	2024	A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family.	1
38451099	2024	Protective roles of peroxiporins AQP0 and AQP11 in human astrocyte and neuronal cell lines in response to oxidative and inflammatory stressors.	1
38032258	2024	The role of phosphorylation in calmodulin-mediated gating of human AQP0.	1
38153133	2024	A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family.	1
38451099	2024	Protective roles of peroxiporins AQP0 and AQP11 in human astrocyte and neuronal cell lines in response to oxidative and inflammatory stressors.	1
36734406	2023	First implication of MIP in bilateral microphthalmia with persistent fetal vasculature.	0
36734406	2023	First implication of MIP in bilateral microphthalmia with persistent fetal vasculature.	0
36360224	2022	Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene.	0
36360224	2022	Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene.	0
33957977	2021	AQP0 is a novel surface marker for deciphering abnormal erythropoiesis.	3
33957977	2021	AQP0 is a novel surface marker for deciphering abnormal erythropoiesis.	3
28836894	2018	A novel mutation of MIP in a Chinese family with congenital nuclear cataract identified by whole-exome sequencing.	4
29695758	2018	Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.	6
29947569	2018	A novel MIP mutation in a Chinese family with congenital cataract.	3

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