MAB21L2 (mab-21 like 2)

2003-12-01  

Identity

HGNC
MAB21L2
LOCATION
4q31.3
LOCUSID
10586
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
249060202014Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.35
257192002015Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.13
261165592015A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.6
275580712016The Male Abnormal Gene Family 21 (Mab21) Members Regulate Eye Development.1

Citation

Dessen P

MAB21L2 (mab-21 like 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

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