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
272718012016Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1.5
271030782017Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.3
115264702001Association and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3.2
214655272011PTH regulates myleoid ELF-1-like factor (MEF)-induced MAB-21-like-1 (MAB21L1) expression through the JNK1 pathway.2
275580712016The Male Abnormal Gene Family 21 (Mab21) Members Regulate Eye Development.1
291564282017Involvement of the Mab21l1 gene in calvarial osteogenesis.1
304872452019MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive <i>c</i>erebellar, <i>o</i>cular, cranio<i>f</i>acial and <i>g</i>enital features (COFG syndrome).0

Citation

Dessen P

MAB21L1 (mab-21 like 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56023/mab21l1