Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4284
Gene name	Major intrinsic protein of lens fiber
Gene symbol	MIP
Synonyms (NCBI Gene)	AQP0CTRCT15LIM1MIP26MP26
Chromosome	12
Chromosome location	12q13.3
Summary	Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is specul

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917867	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs121917869	T>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs398122378	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs864309693	G>A	Pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant, missense variant, coding sequence variant
rs864309696	->GAATGTTCCCAGTG	Pathogenic	Frameshift variant, coding sequence variant
rs1044812718	T>A,G	Likely-pathogenic	Splice acceptor variant
rs1057519616	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1114167315	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555179713	G>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (22)

miRTarBase ID	miRNA	Experiments
MIRT1149387	hsa-miR-129-5p	CLIP-seq
MIRT1149388	hsa-miR-1324	CLIP-seq
MIRT1149389	hsa-miR-2115	CLIP-seq
MIRT1149390	hsa-miR-23a	CLIP-seq
MIRT1149391	hsa-miR-23b	CLIP-seq
MIRT1149392	hsa-miR-23c	CLIP-seq
MIRT1149393	hsa-miR-3977	CLIP-seq
MIRT1149394	hsa-miR-4691-3p	CLIP-seq
MIRT1149395	hsa-miR-516a-3p	CLIP-seq
MIRT2042495	hsa-miR-1323	CLIP-seq
MIRT1149388	hsa-miR-1324	CLIP-seq
MIRT1149394	hsa-miR-4691-3p	CLIP-seq
MIRT2042496	hsa-miR-548o	CLIP-seq
MIRT2042495	hsa-miR-1323	CLIP-seq
MIRT1149388	hsa-miR-1324	CLIP-seq
MIRT2272123	hsa-miR-4255	CLIP-seq
MIRT2272124	hsa-miR-4330	CLIP-seq
MIRT1149394	hsa-miR-4691-3p	CLIP-seq
MIRT2042496	hsa-miR-548o	CLIP-seq
MIRT2272125	hsa-miR-645	CLIP-seq
MIRT2571156	hsa-miR-1225-3p	CLIP-seq
MIRT2571157	hsa-miR-1233	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
PITX3	Activation	21698120

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0005212	Function	Structural constituent of eye lens	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005516	Function	Calmodulin binding	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11001937, 24120416
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006833	Process	Water transport	IBA
GO:0006833	Process	Water transport	IDA	11001937
GO:0006833	Process	Water transport	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0015250	Function	Water channel activity	IBA
GO:0015250	Function	Water channel activity	IDA	24120416
GO:0015250	Function	Water channel activity	IEA
GO:0015267	Function	Channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0034109	Process	Homotypic cell-cell adhesion	IDA	24120416
GO:0036438	Process	Maintenance of lens transparency	IMP	11001937
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0098631	Function	Cell adhesion mediator activity	IDA	24120416
GO:1990349	Process	Gap junction-mediated intercellular transport	IMP	11001937

MIM	HGNC	e!Ensembl
154050	7103	ENSG00000135517

P30301

Protein name

Lens fiber major intrinsic protein (Aquaporin-0) (MIP26) (MP26)

Protein function

Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient (PubMed:11001937, PubMed:24120416). Specifically expressed in lens fiber cells

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00230	MIP	3 → 219	Major intrinsic protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the cortex and nucleus of the retina lens (at protein level) (PubMed:30790544). Major component of lens fiber gap junctions (PubMed:24120416). {ECO:0000269|PubMed:24120416, ECO:0000269|PubMed:30790544}.

Sequence

MWELRSASFWRAIFAEFFATLFYVFFGLGSSLRWAPGPLHVLQVAMAFGLALATLVQSVG
HISGAHVNPAVTFAFLVGSQMSLLRAFCYMAAQLLGAVAGAAVLYSVTPPAVRGNLALNT
LHPAVSVGQATTVEIFLTLQFVLCIFATYDERRNGQLGSVALAVGFSLALGHLFGMYYTG
AGMNPARSFAPAILTGNFTNHWVYWVGPIIGGGLGSLLYDFLLFPRLKSISERLSVLKGA
KPDVSNGQPEVTGEPVELNTQAL

Sequence length

263

Interactions

View interactions

	Reactome
			Passive transport by Aquaporins

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cataract 15 multiple types	Pathogenic; Likely pathogenic	rs1220143491, rs2547312891, rs2547312066, rs864309693, rs121917867, rs121917869, rs2547313222, rs1057519616, rs1555179713, rs398122378, rs1868687508, rs2547312090	RCV001381265 RCV002280025 RCV002470473 RCV001390816 RCV003581087 RCV000015428 RCV000015429 RCV003984962 RCV000420543 RCV000557792 RCV000043661 RCV001214688 RCV005094326
Developmental cataract	Pathogenic	rs864309696, rs864309693, rs1114167315	RCV000203358 RCV000203320 RCV000490771
MIP-related disorder	Pathogenic; Likely pathogenic	rs2547312839, rs398122378	RCV003414229 RCV003407418
Persistent hyperplastic primary vitreous	Pathogenic	rs864309693	RCV002512064

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cataract	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs886049688, rs540359096, rs3840772, rs111463603, rs886049691, rs35639464	RCV000276769 RCV000318808 RCV000287115 RCV000261388 RCV000372428 RCV000319614 RCV000262104 RCV000354500
Microcornea	Uncertain significance	rs1868688386	RCV001034618
Microphthalmia	Uncertain significance	rs1868688386	RCV001034618
Nystagmus	Uncertain significance	rs1868688386	RCV001034618

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	24722754
Carcinoma Renal Cell	Stimulate	35245343
Carcinoma Renal Cell	Associate	36254092
Cataract	Associate	19137077, 20361015, 21245956, 21647270, 21850180, 21921980, 22662182, 24405844, 25033405, 25803033, 25946197, 28059152, 28839118, 29695758, 29914532 View all (5 more)
Cataract Age Related Nuclear	Associate	21921980
Cataract Autosomal Dominant	Associate	19137077, 20361015, 21139677, 24405844, 25033405
Cataract Autosomal Dominant Nuclear	Associate	21245956, 21647270
Cataract congenital dominant non nuclear	Associate	11090476
Cataract Nuclear Progressive	Associate	21245956
Cataract Progressive Polymorphic Cortical	Associate	28059152
Cataract zonular	Associate	11090476
Cerulean cataract	Associate	21850180
Cytomegalovirus Infections	Stimulate	37203095
Death	Associate	27799064
Depressive Disorder	Associate	20174623
Diabetes Mellitus Type 2	Stimulate	20019678
Genetic Diseases Inborn	Associate	28418495
Isolated Noncompaction of the Ventricular Myocardium	Associate	27799064
Legionnaires' Disease	Associate	18094136, 7883904
Lens Diseases	Associate	36360224
Leukemia Lymphoma Adult T Cell	Associate	29794791
Lupus Erythematosus Systemic	Associate	36741410
Lymphedema	Associate	21245956
Lymphoma T Cell Cutaneous	Associate	29794791
Muscle Hypotonia	Associate	27799064
Neoplastic Syndromes Hereditary	Associate	25946197
Ovarian Neoplasms	Associate	29472315
Sjogren's Syndrome	Associate	31086200
Stomach Neoplasms	Associate	29678898

MIP (major intrinsic protein of lens fiber)