mab21l2 mab-21-like 2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: mab21l2provided by ZNC
Official Full Name: mab-21-like 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-011101-3
See related: Ensembl:ENSDARG00000015266 AllianceGenome:ZFIN:ZDB-GENE-011101-3
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: id:ibd3414
Summary: Acts upstream of or within camera-type eye development; embryonic cranial skeleton morphogenesis; and enteric nervous system development. Located in cytoplasm and nucleus. Is expressed in several structures, including anterior neural keel; immature eye; nervous system; neural tube; and pharyngeal arch. Used to study coloboma. 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, Oct 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	1	NC_007112.7 (24076286..24078099)
105	previous assembly	GRCz10 (GCF_000002035.5)	1	NC_007112.6 (23385457..23387270)

Chromosome 1 - NC_007112.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development.
Title: Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development.
Developmental delay during eye morphogenesis underlies optic cup and neurogenesis defects in mab21l2(u517) zebrafish mutants.
Title: Developmental delay during eye morphogenesis underlies optic cup and neurogenesis defects in mab21l2(u517) zebrafish mutants.
These findings support the identification of MAB21L2 as a novel factor involved in human coloboma and highlight the power of genome editing manipulation in model organisms for analysis of the effects of whole exome variation in humans.
Title: Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
Despite the absence of conserved non-coding elements, a 4.9-kb mab21l2 promoter is sufficient to recapitulate expression in tissues unique to mab21l1 or mab21l2.
Title: mab21l2 transgenics reveal novel expression patterns of mab21l1 and mab21l2, and conserved promoter regulation without sequence conservation.
mab21l2 is an early downstream effector of rx3 and is critical for survival of eye progenitors.
Title: Zebrafish rx3 and mab21l2 are required during eye morphogenesis.
mab21 genes play a role in differentiation of the early differentiating olfactory bulbs, eye primordia, midbrain and subsequently the branchial pouches and neural tube
Title: Expression of zebrafish mab21 genes marks the differentiating eye, midbrain and neural tube.

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General gene information

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Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within closure of optic fissure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cornea development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic camera-type eye development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic eye morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within enteric nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lens morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within optic cup morphogenesis involved in camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein mab-21-like 2

Names: unm_au10

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.