MAB21L2 (mab-21 like 2)

2003-12-01  

Identity

HGNC
LOCATION
4q31.3
LOCUSID
ALIAS
MCOPS14,MCSKS14

Other Information

Locus ID:

NCBI: 10586
MIM: 604357
HGNC: 6758
Ensembl: ENSG00000181541

Variants:

dbSNP: 10586
ClinVar: 10586
TCGA: ENSG00000181541
COSMIC: MAB21L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181541ENST00000317605Q9Y586

Expression (GTEx)

0
50
100
150
200
250
300
350

References

Pubmed IDYearTitleCitations
275580712016The Male Abnormal Gene Family 21 (Mab21) Members Regulate Eye Development.5
275580712016The Male Abnormal Gene Family 21 (Mab21) Members Regulate Eye Development.5
257192002015Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.25
261165592015A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.14
257192002015Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.25
261165592015A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.14
249060202014Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.49
249060202014Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.49

Citation

Dessen P

MAB21L2 (mab-21 like 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41225/mab21l2