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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental cataract	Pathogenic	rs864309696, rs864309693, rs1114167315	RCV000203358 RCV000203320 RCV000490771	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MIP-related disorder	Pathogenic; Likely pathogenic	rs2547312839, rs398122378	RCV003414229 RCV003407418	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Persistent hyperplastic primary vitreous	Pathogenic	rs864309693	RCV002512064	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cataract	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CATARACT 15 MULTIPLE TYPE S	—	CTD, ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 15, MULTIPLE TYPE S	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CONGENITAL, CERULEAN TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL TOTAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET LAMELLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NUCLEAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET POSTERIOR POLAR CATARACT	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET SUTURAL CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POSTERIOR SUBCAPSULAR CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOTAL EARLY-ONSET CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MIP (major intrinsic protein of lens fiber)