SLC39A13 (solute carrier family 39 member 13)

2014-11-01  

Identity

HGNC
SLC39A13
LOCATION
11p11.2
LOCUSID
91252
ALIAS
EDSSPD3,LZT-Hs9,SCDEDS,ZIP13
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 91252
MIM: 608735
HGNC: 20859
Ensembl: ENSG00000165915

Variants:

dbSNP: 91252
ClinVar: 91252
TCGA: ENSG00000165915
COSMIC: SLC39A13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165915ENST00000354884Q96H72
ENSG00000165915ENST00000362021Q96H72
ENSG00000165915ENST00000524928E9PNE7
ENSG00000165915ENST00000526614K4DIA9
ENSG00000165915ENST00000527091K4DIB5
ENSG00000165915ENST00000531419E9PRH4
ENSG00000165915ENST00000531865E9PNN7
ENSG00000165915ENST00000531974E9PSA8
ENSG00000165915ENST00000533076G3V1B2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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
185136832008Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.53
219179162011Biochemical characterization of human ZIP13 protein: a homo-dimerized zinc transporter involved in the spondylocheiro dysplastic Ehlers-Danlos syndrome.46
232132332012Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.36
250060352014The metal transporter ZIP13 supplies iron into the secretory pathway in Drosophila melanogaster.24
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
250078002014Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins.18
217395772011Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13.0

Citation

Dessen P

SLC39A13 (solute carrier family 39 member 13)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73434/slc39a13