SLC44A2 (solute carrier family 44 member 2)

2014-08-01  

Identity

HGNC
SLC44A2
LOCATION
19p13.2
LOCUSID
57153
ALIAS
CTL2,PP1292
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57153
MIM: 606106
HGNC: 17292
Ensembl: ENSG00000129353

Variants:

dbSNP: 57153
ClinVar: 57153
TCGA: ENSG00000129353
COSMIC: SLC44A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129353ENST00000335757Q8IWA5
ENSG00000129353ENST00000407327Q8IWA5
ENSG00000129353ENST00000407327A0A088QCU6
ENSG00000129353ENST00000586078Q8IWA5
ENSG00000129353ENST00000586549K7ESP7
ENSG00000129353ENST00000588409K7ER17
ENSG00000129353ENST00000588688K7EPV6
ENSG00000129353ENST00000590382K7ESF5
ENSG00000129353ENST00000590857A0A140TA83
ENSG00000129353ENST00000591194K7EMN3
ENSG00000129353ENST00000592293K7EMR2

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

Pathways

PathwaySourceExternal ID
Choline metabolism in cancerKEGGhsa05231
Choline metabolism in cancerKEGGko05231
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PCREACTOMER-HSA-1483191
Neutrophil degranulationREACTOMER-HSA-6798695

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
257729352015Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.68
200375942010Characterization of the human neutrophil alloantigen-3a.37
269086012016Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.31
200407642010The neutrophil alloantigen HNA-3a (5b) is located on choline transporter-like protein 2 and appears to be encoded by an R>Q154 amino acid substitution.29
206652362010Isoforms, expression, glycosylation, and tissue distribution of CTL2/SLC44A2.18
204106072010Involvement of choline transporter-like proteins, CTL1 and CTL2, in glucocorticoid-induced acceleration of phosphatidylcholine synthesis via increased choline uptake.12
215641012011Genetic variation of the HNA-3a encoding gene.12
179261002007Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear.11
220400642012Frequencies of SLC44A2 alleles encoding human neutrophil antigen-3 variants in the African American population.8
233981462013Determination of human neutrophil antigen-1, -3, -4 and -5 allele frequencies in English Caucasoid blood donors using a multiplex fluorescent DNA-based assay.7

Citation

Dessen P

SLC44A2 (solute carrier family 44 member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54639/slc44a2