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
366950472023Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.2
366950472023Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.2
325811882021The Effect of Common Variants in SLC44A2 on the Contribution to the Risk of Deep Cein Thrombosis after Orthopedic Surgery.2
335561752021Impaired adhesion of neutrophils expressing Slc44a2/HNA-3b to VWF protects against NETosis under venous shear rates.15
336725802021Functional Expression of Choline Transporters in Human Neural Stem Cells and Its Link to Cell Proliferation, Cell Viability, and Neurite Outgrowth.3
337891602021Choline transporter-like proteins 1 and 2 are newly identified plasma membrane and mitochondrial ethanolamine transporters.15
325811882021The Effect of Common Variants in SLC44A2 on the Contribution to the Risk of Deep Cein Thrombosis after Orthopedic Surgery.2
335561752021Impaired adhesion of neutrophils expressing Slc44a2/HNA-3b to VWF protects against NETosis under venous shear rates.15
336725802021Functional Expression of Choline Transporters in Human Neural Stem Cells and Its Link to Cell Proliferation, Cell Viability, and Neurite Outgrowth.3
337891602021Choline transporter-like proteins 1 and 2 are newly identified plasma membrane and mitochondrial ethanolamine transporters.15
323149612020Activated α(IIb)β(3) on platelets mediates flow-dependent NETosis via SLC44A2.48
323149612020Activated α(IIb)β(3) on platelets mediates flow-dependent NETosis via SLC44A2.48
306341672019Association between SLC44A2 rs2288904 polymorphism and risk of recurrent venous thromboembolism among Thai patients.5
306341672019Association between SLC44A2 rs2288904 polymorphism and risk of recurrent venous thromboembolism among Thai patients.5
264378112016Full-length nucleotide sequences of 30 common SLC44A2 alleles encoding human neutrophil antigen-3.3

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-(solute-carrier-family-44-member-2)