MAB21L1 (mab-21 like 1)

2016-10-01  

Identity

HGNC
MAB21L1
LOCATION
13q13.3
LOCUSID
4081
ALIAS
CAGR1,COFG,Nbla00126

Other Information

Locus ID:

NCBI: 4081
MIM: 601280
HGNC: 6757
Ensembl: ENSG00000180660

Variants:

dbSNP: 4081
ClinVar: 4081
TCGA: ENSG00000180660
COSMIC: MAB21L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180660ENST00000379919Q13394
ENSG00000180660ENST00000379919F1T0A2

Expression (GTEx)

0
10
20
30
40
50
60
70
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
364465832023Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects.1
368925332023Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.2
364465832023Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects.1
368925332023Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.2
364135682022Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.2
364135682022Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.2
339736832021Identification of missense MAB21L1 variants in microphthalmia and aniridia.10
339736832021Identification of missense MAB21L1 variants in microphthalmia and aniridia.10
304872452019MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).16
304872452019MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).16
271030782017Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.10
291564282017Involvement of the Mab21l1 gene in calvarial osteogenesis.6
271030782017Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.10
291564282017Involvement of the Mab21l1 gene in calvarial osteogenesis.6
272718012016Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1.24

Citation

Dessen P

MAB21L1 (mab-21 like 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56023