MAB21L2 mab-21 like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAB21L2provided by HGNC
Official Full Name: mab-21 like 2provided by HGNC
Primary source: HGNC:HGNC:6758
See related: Ensembl:ENSG00000181541 MIM:604357; AllianceGenome:HGNC:6758
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MCOPS14; MCSKS14
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]
Orthologs: mouse all
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Genomic context

Location:: 4q31.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (150582151..150584693)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (153905998..153908540)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (151503303..151505845)

Chromosome 4 - NC_000004.12 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.
mab21 gene family members, mab21l1 and mab21l2, play important roles in regulating eye development. [review]
Title: The Male Abnormal Gene Family 21 (Mab21) Members Regulate Eye Development.
The two unrelated individuals with a novel oculo-skeletal syndrome with intellectual disability described are heterozygous carriers of the same de novo missense mutation c.151C > T (p.Arg51Cys) in MAB21L2.
Title: A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.
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.
This report provides compelling human genomic and genetic evidence that mutations in MAB21L2 cause major eye malformations.
Title: Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Colobomatous microphthalmia-rhizomelic dysplasia syndrome MedGen: C4014540 OMIM: 615877 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in camera-type eye development	IEA Inferred from Electronic Annotation more info
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in embryonic body morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info

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

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.