SLC10A7 (solute carrier family 10 member 7)

2014-11-01  

Identity

HGNC
SLC10A7
LOCATION
4q31.22
LOCUSID
84068
ALIAS
C4orf13,P7,SSASKS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84068
MIM: 611459
HGNC: 23088
Ensembl: ENSG00000120519

Variants:

dbSNP: 84068
ClinVar: 84068
TCGA: ENSG00000120519
COSMIC: SLC10A7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120519ENST00000335472Q0GE19
ENSG00000120519ENST00000394059Q0GE19
ENSG00000120519ENST00000432059Q0GE19
ENSG00000120519ENST00000502607Q0GE19
ENSG00000120519ENST00000507030Q0GE19
ENSG00000120519ENST00000511374Q0GE19

Expression (GTEx)

0
1
2
3
4
5
6
7
8
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
N/A

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
176282072007Molecular and phylogenetic characterization of a novel putative membrane transporter (SLC10A7), conserved in vertebrates and bacteria.11
298781992018Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.8
300827152018SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.3
159320642005Molecular cloning and characterization of a novel human C4orf13 gene, tentatively a member of the sodium bile acid cotransporter family.1

Citation

Dessen P

SLC10A7 (solute carrier family 10 member 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73275/slc10a7