MAB21L2 (mab-21 like 2)

Gene

• Entrez ID: 10586
• Gene name: Mab-21 like 2
• Gene symbol: MAB21L2
• Synonyms: MCOPS14, MCSKS14
• Chromosome: 4
• Chromosome location: 4q31.3
• Summary: This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily n

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1124752	hsa-miR-19a	CLIP-seq
MIRT1124753	hsa-miR-19b	CLIP-seq
MIRT1124754	hsa-miR-2113	CLIP-seq
MIRT1124755	hsa-miR-3614-5p	CLIP-seq
MIRT1124756	hsa-miR-4311	CLIP-seq
MIRT1124757	hsa-miR-4696	CLIP-seq
MIRT1124758	hsa-miR-4775	CLIP-seq
MIRT1124759	hsa-miR-5096	CLIP-seq
MIRT1124760	hsa-miR-539	CLIP-seq
MIRT1124761	hsa-miR-590-3p	CLIP-seq
MIRT1124752	hsa-miR-19a	CLIP-seq
MIRT1124753	hsa-miR-19b	CLIP-seq
MIRT1124754	hsa-miR-2113	CLIP-seq
MIRT1124757	hsa-miR-4696	CLIP-seq
MIRT2265686	hsa-miR-1305	CLIP-seq
MIRT2265687	hsa-miR-185	CLIP-seq
MIRT1124752	hsa-miR-19a	CLIP-seq
MIRT1124753	hsa-miR-19b	CLIP-seq
MIRT1124754	hsa-miR-2113	CLIP-seq
MIRT2265688	hsa-miR-3065-5p	CLIP-seq
MIRT2265689	hsa-miR-342-5p	CLIP-seq
MIRT2265690	hsa-miR-421	CLIP-seq
MIRT2265691	hsa-miR-4306	CLIP-seq
MIRT2265692	hsa-miR-452	CLIP-seq
MIRT2265693	hsa-miR-4525	CLIP-seq
MIRT2265694	hsa-miR-4644	CLIP-seq
MIRT2265695	hsa-miR-4651	CLIP-seq
MIRT2265696	hsa-miR-4664-5p	CLIP-seq
MIRT2265697	hsa-miR-4676-3p	CLIP-seq
MIRT1124757	hsa-miR-4696	CLIP-seq
MIRT2265698	hsa-miR-608	CLIP-seq
MIRT2453588	hsa-miR-548ad	CLIP-seq
MIRT2453589	hsa-miR-548p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001654	Process	Eye development	IMP	24906020, 25719200
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IDA	25719200
GO:0005737	Component	Cytoplasm	IDA	25719200
GO:0007399	Process	Nervous system development	TAS	10556287
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0010172	Process	Embryonic body morphogenesis	IEA
GO:0043010	Process	Camera-type eye development	IEA

Other IDs

• MIM: 604357
• HGNC: 6758
• e!Ensembl: ENSG00000181541

Protein

• UniProt ID: Q9Y586
• Protein name: Protein mab-21-like 2
• Protein function: Required for several aspects of embryonic development including normal development of the eye.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03281	Mab-21	62 → 344	Mab-21 protein	Family

• Sequence:

  MIAAQAKLVYQLNKYYTERCQARKAAIAKTIREVCKVVSDVLKEVEVQEPRFISSLSEID
  ARYEGLEVISPTEFEVVLYLNQMGVFNFVDDGSLPGCAVLKLSDGRKRSMSLWVEFITAS
  GYLSARKIRSRFQTLVAQAVDKCSYRDVVKMIADTSEVKLRIRERYVVQITPAFKCTGIW
  PRSAAQWPMPHIPWPGPNRVAEVKAEGFNLLSKECYSLTGKQSSAESDAWVLQFGEAENR
  LLMGGCRNKCLSVLKTLRDRHLELPGQPLNNYHMKTLLLYECEKHPRETDWDESCLGDRL
  NGILLQLISCLQCRRCPHYFLPNLDLFQGKPHSALESAAKQTWRLAREILTNPKSLDKL

• Sequence length: 359

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	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
Colobomatous microphthalmia-rhizomelic dysplasia syndrome	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	rs587777511, rs587777512, rs587777513
Congenital ocular coloboma	Congenital ocular coloboma (disorder)	rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	17568789
Syndromic microphthalmia	Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457, rs786205884, rs786205224, rs869025222, rs869025221, rs886037853, rs755000701, rs1243762658, rs1555350223, rs1555350156, rs1553637470, rs1566622571, rs1603289774, rs1603289772, rs1579099615, rs1594952111, rs1575553528, rs1575553547, rs1594952007, rs1701696937

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital anomaly of eye	Congenital ectopic pupil
Congenital epicanthus	Congenital Epicanthus
Microphthalmia/coloboma and skeletal dysplasia syndrome	MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME		24906020, 25719200
Strabismus	Strabismus