SLC44A4 (solute carrier family 44 member 4)

2014-11-01  

Identity

HGNC
SLC44A4
LOCATION
6p21.33
LOCUSID
80736
ALIAS
C6orf29,CTL4,DFNA72,NG22,TPPT,hTPPT1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80736
MIM: 606107
HGNC: 13941
Ensembl: ENSG00000204385

Variants:

dbSNP: 80736
ClinVar: 80736
TCGA: ENSG00000204385
COSMIC: SLC44A4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204385ENST00000229729Q53GD3
ENSG00000204385ENST00000229729A0A140VJH4
ENSG00000204385ENST00000375562Q53GD3
ENSG00000204385ENST00000414427H0Y5I3
ENSG00000204385ENST00000544672Q53GD3
ENSG00000204385ENST00000544672A0A1U9X8K7
ENSG00000204385ENST00000644409Q53GD3
ENSG00000204385ENST00000644409A0A1U9X8K7

Expression (GTEx)

0
50
100
150
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
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

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
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
205263392010Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.46
243794112014Molecular identification and functional characterization of the human colonic thiamine pyrophosphate transporter.15
236511242013Choline transporter-like protein 4 (CTL4) links to non-neuronal acetylcholine synthesis.14
204667342010Refining the association of MHC with multiple sclerosis in African Americans.13
269016542016Mechanism(S) Involved in the Colon-Specific Expression of the Thiamine Pyrophosphate (Tpp) Transporter.5
257157032015Regulation of basal promoter activity of the human thiamine pyrophosphate transporter SLC44A4 in human intestinal epithelial cells.4
267412882016Identification of critical variants within SLC44A4, an ulcerative colitis susceptibility gene identified in a GWAS in north Indians.2
268281222016The human colonic thiamine pyrophosphate transporter (hTPPT) is a glycoprotein and N-linked glycosylation is important for its function.1
227891252012TGFβ(1) and sCTLA-4 levels are increased in eltrombopag-exposed patients with ITP.0

Citation

Dessen P

SLC44A4 (solute carrier family 44 member 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73445/slc44a4