MAB21L2 (mab-21 like 2)

Gene

• Entrez ID: 10586
• Gene name: Mab-21 like 2
• Gene symbol: MAB21L2
• Synonyms (NCBI Gene): 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	IEA
GO:0001654	Process	Eye development	IMP	24906020, 25719200
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IDA	25719200
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	25719200
GO:0005737	Component	Cytoplasm	IEA
GO:0007399	Process	Nervous system development	TAS	10556287
GO:0008283	Process	Cell population proliferation	IEA
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

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome	colobomatous microphthalmia-rhizomelic dysplasia syndrome	rs587777513, rs587777512, rs587777511	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Microphthalmia	syndromic microphthalmia	N/A	N/A	GenCC

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