MAB21L2 - mab-21 like 2 Gene

Homo sapiens

Also known as MCOPS14; MCSKS14

Gene ID: 10586 | Gene type: protein coding

About MAB21L2

Cytogenetic location: 4q31.3 Genomic coordinates (GRCh38): 4:150,582,151-150,584,693 (from NCBI)

This gene has 1 transcript (splice variant), 121 orthologues, 9 paralogues and is associated with 5 phenotypes.

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 nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]

MAB21L2 Products(1)

mRNA	Protein	Name
NM_006439.5	NP_006430.1	protein mab-21-like 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in eye development	IMP IMP: Inferred from mutant phenotype	24906020	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	25719200	GOA
located in nucleus	IDA IDA: Inferred from direct assay	25719200	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAB21L2 Protein Structure

Mab-21

0
100
200
300
359 a.a.

Protein Preferred Names

Protein Names

protein mab-21-like 2

MAB21L2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MAB21L2	Q9Y586	CCDC102B	Homo sapiens	Q68D86	Validated Y2H	25416956
Intra	MAB21L2	Q9Y586	CCDC102B	Homo sapiens	Q68D86	Y2H Array	25416956
Intra	MAB21L2	Q9Y586	KRT34	Homo sapiens	O76011	Y2H Prey Pooling	32296183
Intra	MAB21L2	Q9Y586	KRT34	Homo sapiens	O76011	Y2H Array	32296183
Intra	MAB21L2	Q9Y586	AP1S2	Homo sapiens	P56377	Y2H Array	32296183
Intra	MAB21L2	Q9Y586	AP1S2	Homo sapiens	P56377	Y2H Prey Pooling	32296183
Intra	MAB21L2	Q9Y586	TFIP11	Homo sapiens	Q9UBB9	Y2H Array	32296183
Intra	MAB21L2	Q9Y586	TFIP11	Homo sapiens	Q9UBB9	Y2H Prey Pooling	32296183
Intra	MAB21L2	Q9Y586	ABI1	Homo sapiens	Q8IZP0-5	Y2H Prey Pooling	32296183
Intra	MAB21L2	Q9Y586	ABI1	Homo sapiens	Q8IZP0-5	Y2H Array	32296183
Intra	MAB21L2	Q9Y586	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	MAB21L2	Q9Y586	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	MAB21L2	Q9Y586	PNMA1	Homo sapiens	Q8ND90	Validated Y2H	25416956
Intra	MAB21L2	Q9Y586	PNMA1	Homo sapiens	Q8ND90	Y2H Prey Pooling	25416956
Intra	MAB21L2	Q9Y586	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Array	32296183
Intra	MAB21L2	Q9Y586	GOLGA2	Homo sapiens	Q08379	Y2H Array	25416956
Intra	MAB21L2	Q9Y586	CEP70	Homo sapiens	Q8NHQ1	Y2H Prey Pooling	32296183
Intra	MAB21L2	Q9Y586	CEP70	Homo sapiens	Q8NHQ1	Y2H Array	32296183
Intra	MAB21L2	Q9Y586	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	32296183
Intra	MAB21L2	Q9Y586	KRT31	Homo sapiens	Q15323	Y2H Array	32296183
Intra	MAB21L2	Q9Y586	ARID5A	Homo sapiens	Q03989	Y2H Prey Pooling	32296183
Intra	MAB21L2	Q9Y586	ARID5A	Homo sapiens	Q03989	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MAB21L2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77074	MAB21L2 Protein, Human (His)	Q9Y586/NP_006430 (M1-L359)	≥95%

Related Diseases

Diseases

Alias

Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome

Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome	MCSKS
Mcops14	Microphthalmia And/Or Coloboma With Or Without Rhizomelic Skeletal Dysplasia
Microphthalmia, Syndromic 14	Syndromic Microphthalmia 14
Microphthalmia-Coloboma-Rhizomelic Skeletal Dysplasia	Microphthalmia, Syndromic, 14
Microphthalmia And/Or Coloboma, With Or Without Rhizomelic Skeletal Dysplasia	Microphthalmia, Syndromic, Type 14

Autosomal Dominant Wolfram Syndrome

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Baraitser-Winter Syndrome

Fryns-Aftimos Syndrome	Brws
Cerebro-Frontofacial Syndrome, Type 3	Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability	Trigonocephaly Ptosis Coloboma
Trigonocephaly Ptosis Intellectual Disability	Cerebrofrontofacial Syndrome Type 3

Syndromic Microphthalmia

Microphthalmia, Syndromic

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Aniridia 1

Aniridia	Congenital Aniridia
AN1	An
Cataract With Late-Onset Corneal Dystrophy	Aplasia Of Iris
Absent Iris	Irideremia
Aniridia Ii, Formerly	An2, Formerly
An2	Aniridia Type Ii
Aniridia, Type 1	An-1
Absence Of Iris	Agenesis Of Iris
Congenital Absence Of Iris	Hereditary Aniridia
Sporadic Aniridia

Glaucoma 3, Primary Congenital, A

Buphthalmos	Glaucoma, Congenital
Congenital Glaucoma	Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
GLC3A	Glc3
Buphthalmia	Primary Congenital Glaucoma
Glaucoma, Primary Open Angle, Juvenile-Onset	Simple Buphthalmos
Buphthalmus	Glaucoma, Primary Open Angle, Adult-Onset
Primary Congenital Glaucoma 3a	Primary Infantile Glaucoma Type 3a
Glaucoma 3a, Primary Congenital	Glaucoma, Congenital, Primary, Type 3a
Hydrophthalmos	Cystic Eyeball

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly	Anterior Segment Mesenchymal Dysgenesis
Corneal Opacification And Other Ocular Anomalies	Sclerocornea With Other Ocular Anomalies
Asmd	Asod
Anterior Segment Ocular Dysgenesis	Foxe3-Related Ocular Disorder
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Dysgenesis, Anterior Segment
Irido-Corneal Dysgenesis	Axenfeld-Rieger Syndrome, Type 3

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07939	MAB21L2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MAB21L2	VGNC	VGNC:68122
Canis familiaris	MAB21L2	VGNC	VGNC:42911
Rattus norvegicus	MAB21L2	RGD	RGD:1595520
Mus musculus	MAB21L2	MGD	MGI:1346022
Bos taurus	MAB21L2	VGNC	VGNC:31128
Macaca mulatta	MAB21L2	VGNC	VGNC:100243
Others	MAB21L2	NCBI

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