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

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10586
Gene name Gene Name - the full gene name approved by the HGNC.	Mab-21 like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MAB21L2
Synonyms (NCBI Gene) Gene synonyms aliases	MCOPS14, MCSKS14
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q31.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(33)

miRTarBase ID	miRNA	Experiments
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

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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

MIM	HGNC	e!Ensembl
604357	6758	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

Interactions

View interactions

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
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	rs587776843	17568789
Syndromic microphthalmia	Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457 View all (19 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Microphthalmia	syndromic microphthalmia			GenCC

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining
Jet Lag Syndrome	Associate	35660939
Myelodysplastic Syndromes	Associate	32045384
Osteoporosis	Associate	23028809
Osteoporotic Fractures	Associate	23028809

MAB21L2 (mab-21 like 2)