MIP (major intrinsic protein of lens fiber)

Gene

• Entrez ID: 4284
• Gene name: Major intrinsic protein of lens fiber
• Gene symbol: MIP
• Synonyms: AQP0, CTRCT15, LIM1, MIP26, MP26
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Transcription factors

Transcription factor	Regulation	Reference
PITX3	Activation	21698120

Gene ontology (GO)

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:0005783	Component	Endoplasmic reticulum	IDA	24120416
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	24120416
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0005921	Component	Gap junction	IEA
GO:0006833	Process	Water transport	IBA	21873635
GO:0006833	Process	Water transport	ISS
GO:0006833	Process	Water transport	TAS
GO:0007601	Process	Visual perception	IEA
GO:0015250	Function	Water channel activity	IBA	21873635
GO:0015250	Function	Water channel activity	IDA	24120416
GO:0015250	Function	Water channel activity	ISS
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0045785	Process	Positive regulation of cell adhesion	IDA	24120416
GO:0050896	Process	Response to stimulus	IEA
GO:0051289	Process	Protein homotetramerization	IDA	24120416
GO:0055085	Process	Transmembrane transport	IEA
GO:1990349	Process	Gap junction-mediated intercellular transport	IDA	24120416

Other IDs

• MIM: 154050
• HGNC: 7103
• e!Ensembl: ENSG00000135517

Protein

• UniProt ID: 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

• Sequence:

  MWELRSASFWRAIFAEFFATLFYVFFGLGSSLRWAPGPLHVLQVAMAFGLALATLVQSVG
  HISGAHVNPAVTFAFLVGSQMSLLRAFCYMAAQLLGAVAGAAVLYSVTPPAVRGNLALNT
  LHPAVSVGQATTVEIFLTLQFVLCIFATYDERRNGQLGSVALAVGFSLALGHLFGMYYTG
  AGMNPARSFAPAILTGNFTNHWVYWVGPIIGGGLGSLLYDFLLFPRLKSISERLSVLKGA
  KPDVSNGQPEVTGEPVELNTQAL

• Sequence length: 263

Pathways

Reactome:

Passive transport by Aquaporins

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract, Cortical, lamellar, or zonular nonsenile cataract, Embryonal nuclear cataract (disorder), Cataract, congenital, cerulean type 1, Nuclear cataract, Pseudoaphakia, Nuclear non-senile cataract, Cataract, Central Saccular, With Sutural Opacities, CATARACT, MARNER TYPE, CATARACT 15, MULTIPLE TYPES, Early-onset lamellar cataract, Cerulean cataract, Early-onset sutural cataract, Early-onset nuclear cataract, Total early-onset cataract, Early-onset posterior polar cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692	10802646, 21850180, 24384146, 21245956, 21647270, 21647270, 24384146, 21245956, 24405844, 20361015, 16564824, 17893667, 25946197, 17960133, 24120416, 20361015, 21245956, 10802646, 11001937, 23116563

Unknown
Disease name	Disease term	dbSNP ID	References
Capsular cataract	Posterior subcapsular cataract		25803033
Congenital cataract	Congenital cataract, Congenital lamellar cataract, Congenital total cataract		26694549, 17893667
Cortical cataract	Cortical cataract	rs757859957, rs748560372, rs886045505, rs886045507, rs2547319