MAB21L2 - mab-21 like 2 Gene

Also Known as MCOPS14; MCSKS14

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10586

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
involved in eye development IMP
IMP: Inferred from mutant phenotype
24906020 GOA
Cellular Component GO Annotation Evidence References 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

Mab-21: Mab-21 protein (62 - 346)

  • 0
  • 100
  • 200
  • 300
  • 359 a.a.
Protein Preferred Names Protein Names

protein mab-21-like 2

MAB21L2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07939 MAB21L2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20637 Mab21l2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27146 Mab21l2 Rat Pre-designed siRNA Set A Pre-designed Set / 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