MCM3AP (minichromosome maintenance complex component 3 associated protein)

2006-10-01  

Identity

HGNC
MCM3AP
LOCATION
21q22.3
LOCUSID
8888
ALIAS
GANP,MAP80,PNRIID,SAC3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8888
MIM: 603294
HGNC: 6946
Ensembl: ENSG00000160294

Variants:

dbSNP: 8888
ClinVar: 8888
TCGA: ENSG00000160294
COSMIC: MCM3AP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160294ENST00000291688O60318
ENSG00000160294ENST00000397708O60318
ENSG00000160294ENST00000426537A0A0A0MSZ7

Expression (GTEx)

0
10
20
30
40
50
60
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376112682023Two Cases of Periodic Paralysis Associated With MCM3AP Variants.0
376112682023Two Cases of Periodic Paralysis Associated With MCM3AP Variants.0
322022982020Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.3
323191842020Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.3
328275602020The critical role of germinal center-associated nuclear protein in cell biology, immunohematology, and hematolymphoid oncogenesis.1
329400992020Long noncoding RNA MCM3AP antisense RNA 1 is downregulated in chronic obstructive pulmonary disease and regulates human bronchial smooth muscle cell proliferation.2
322022982020Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.3
323191842020Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.3
328275602020The critical role of germinal center-associated nuclear protein in cell biology, immunohematology, and hematolymphoid oncogenesis.1
329400992020Long noncoding RNA MCM3AP antisense RNA 1 is downregulated in chronic obstructive pulmonary disease and regulates human bronchial smooth muscle cell proliferation.2
307821882019A novel lncRNA MCM3AP-AS1 promotes the growth of hepatocellular carcinoma by targeting miR-194-5p/FOXA1 axis.214
308109672019Impact of germinal center-associated nuclear protein polymorphisms on breast cancer risk and prognosis in a Japanese population.1
312411962019Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.2
307821882019A novel lncRNA MCM3AP-AS1 promotes the growth of hepatocellular carcinoma by targeting miR-194-5p/FOXA1 axis.214
308109672019Impact of germinal center-associated nuclear protein polymorphisms on breast cancer risk and prognosis in a Japanese population.1

Citation

Dessen P

MCM3AP (minichromosome maintenance complex component 3 associated protein)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43358