ABCA13 (ATP binding cassette subfamily A member 13)

2016-01-01  

Identity

HGNC
ABCA13
LOCATION
7p12.3
LOCUSID
154664
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 154664
MIM: 607807
HGNC: 14638
Ensembl: ENSG00000179869

Variants:

dbSNP: 154664
ClinVar: 154664
TCGA: ENSG00000179869
COSMIC: ABCA13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179869ENST00000411975H0Y4D2
ENSG00000179869ENST00000417403Q86UQ4
ENSG00000179869ENST00000435451H7BZI9
ENSG00000179869ENST00000435803A0A0A0MT16
ENSG00000179869ENST00000453246H7C0U5
ENSG00000179869ENST00000544596F5H7B7

Expression (GTEx)

0
1
2
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

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

References

Pubmed IDYearTitleCitations
332990692020ATP-binding cassette transporter 13 mRNA expression level in schizophrenia patients.1
332990692020ATP-binding cassette transporter 13 mRNA expression level in schizophrenia patients.1
277121362017Association between the variability of the ABCA13 gene and the risk of major depressive disorder and schizophrenia in the Han Chinese population.6
277121362017Association between the variability of the ABCA13 gene and the risk of major depressive disorder and schizophrenia in the Han Chinese population.6
258989272016Rare missense variants within a single gene form yin yang haplotypes.3
258989272016Rare missense variants within a single gene form yin yang haplotypes.3
258896872015CIAPIN1 and ABCA13 are markers of poor survival in metastatic ovarian serous carcinoma.23
258896872015CIAPIN1 and ABCA13 are markers of poor survival in metastatic ovarian serous carcinoma.23
232500052013No evidence for an involvement of copy number variation in ABCA13 in schizophrenia, bipolar disorder, or major depressive disorder.3
232666392013Evidence for an alternative genomic structure, mRNA and protein sequence of human ABCA13.4
239102382013A genetic association study between common variants in the ABCA13 gene and schizophrenia in a Han Chinese population.1
232500052013No evidence for an involvement of copy number variation in ABCA13 in schizophrenia, bipolar disorder, or major depressive disorder.3
232666392013Evidence for an alternative genomic structure, mRNA and protein sequence of human ABCA13.4
239102382013A genetic association study between common variants in the ABCA13 gene and schizophrenia in a Han Chinese population.1
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

ABCA13 (ATP binding cassette subfamily A member 13)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55613