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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Colobomatous microphthalmia-rhizomelic dysplasia syndrome	Pathogenic; Likely pathogenic	rs2126402910, rs587777511, rs587777512, rs587777513, rs540652583, rs1771601609	RCV001730006 RCV000128563 RCV000128564 RCV000128565 RCV003988770 RCV000490802 RCV001270674	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMATOUS MICROPHTHALMIA, RHIZOMELIC DYSPLASIA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL OCULAR COLOBOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAB21L2-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anophthalmos	Syndromic microphthalmia	BEFREE	26116559, 30073347		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colobomatous microphthalmia-rhizomelic dysplasia syndrome	Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital ectopic pupil	Congenital anomaly of eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	25719200, 26116559, 31037784		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30375740		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME	MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME	ORPHANET_DG	24906020		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME	MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME	GENOMICS_ENGLAND_DG	24906020, 25719200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME	MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME	UNIPROT_DG	24906020, 25719200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME	MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME	MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	BEFREE	26116559, 31037784		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	32045384	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	25719200, 30375740		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	23028809		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	23028809	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	17568789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	25719200, 30375740		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only