Mab21l2 mab-21-like 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mab21l2provided by MGI
Official Full Name: mab-21-like 2provided by MGI
Primary source: MGI:MGI:1346022
See related: Ensembl:ENSMUSG00000057777 AllianceGenome:MGI:1346022
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Acts upstream of or within camera-type eye development; embryonic body morphogenesis; and positive regulation of cell population proliferation. Located in nucleus. Is expressed in several structures, including branchial arch; central nervous system; embryo mesenchyme; limb; and sensory organ. Human ortholog(s) of this gene implicated in coloboma and syndromic microphthalmia 14. Orthologous to human MAB21L2 (mab-21 like 2). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human all
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Genomic context

Location:: 3 F1; 3 37.86 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (86453357..86455590, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (86546050..86548283, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Title: Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
In mouse embryos, Mab21l2 showed strong expression in the developing eye, pharyngeal arches, and limb bud.
Title: Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Mab21l2 plays a crucial role in both heart and liver development through septum transversum mesenchyme (STM) formation.
Title: Mab21l2 is essential for embryonic heart and liver development.
Results reveal that Mab21l2 plays crucial roles in retina and in ventral body wall formation.
Title: Requirement for Mab21l2 during development of murine retina and ventral body wall.
required in developing embryos for embryonic turning, formation of the notochord, neural tube, and other organ tissues
Title: Depletion of Mab21l1 and Mab21l2 messages in mouse embryo arrests axial turning, and impairs notochord and neural tube differentiation.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic body morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye development	ISO Inferred from Sequence Orthology more info
involved_in eye development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein mab-21-like 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.