SLC11A2 (solute carrier family 11 member 2)

2014-02-01  

Identity

HGNC
SLC11A2
LOCATION
12q13.12
LOCUSID
4891
ALIAS
AHMIO1,DCT1,DMT1,NRAMP2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4891
MIM: 600523
HGNC: 10908
Ensembl: ENSG00000110911

Variants:

dbSNP: 4891
ClinVar: 4891
TCGA: ENSG00000110911
COSMIC: SLC11A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110911ENST00000262052P49281
ENSG00000110911ENST00000394904P49281
ENSG00000110911ENST00000541174P49281
ENSG00000110911ENST00000545993P49281
ENSG00000110911ENST00000546488F8VR36
ENSG00000110911ENST00000546636P49281
ENSG00000110911ENST00000546636A0A0X8GKR4
ENSG00000110911ENST00000546743F8W1P7
ENSG00000110911ENST00000547198P49281
ENSG00000110911ENST00000547198A0A0X8GKR4
ENSG00000110911ENST00000547510F8W1D8
ENSG00000110911ENST00000547579F8W1F2
ENSG00000110911ENST00000547688P49281
ENSG00000110911ENST00000547732F8W154
ENSG00000110911ENST00000548193F8VWB0
ENSG00000110911ENST00000549625F8VRL7
ENSG00000110911ENST00000550714F8W1C0
ENSG00000110911ENST00000551215H0YIV3
ENSG00000110911ENST00000642227A0A2R8YDL2
ENSG00000110911ENST00000643884A0A2R8YD71
ENSG00000110911ENST00000644495P49281
ENSG00000110911ENST00000644495A0A0X8GKR4
ENSG00000110911ENST00000646264A0A2R8Y5Q7
ENSG00000110911ENST00000646740A0A2R8Y4F9
ENSG00000110911ENST00000646988A0A2R8Y5L1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
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
Metal ion SLC transportersREACTOMER-HSA-425410
Iron uptake and transportREACTOMER-HSA-917937
FerroptosisKEGGko04216
FerroptosisKEGGhsa04216

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
122090112002Previously uncharacterized isoforms of divalent metal transporter (DMT)-1: implications for regulation and cellular function.83
227367592012Substrate profile and metal-ion selectivity of human divalent metal-ion transporter-1.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
211996522011Intestinal DMT1 cotransporter is down-regulated by hepcidin via proteasome internalization and degradation.53
154590092005Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload.49
171096292007Functional properties of multiple isoforms of human divalent metal-ion transporter 1 (DMT1).48
201643052010Retromer-mediated direct sorting is required for proper endosomal recycling of the mammalian iron transporter DMT1.48
127341072003DMT1, a physiologically relevant apical Cu1+ transporter of intestinal cells.44
172938702007Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1.44

Citation

Dessen P

SLC11A2 (solute carrier family 11 member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53798/slc11a2-(solute-carrier-family-11-member-2)