SLC10A7 (solute carrier family 10 member 7)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84068
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 10 member 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC10A7
Synonyms (NCBI Gene) Gene synonyms aliases
C4orf13, P7, SSASKS
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q31.22
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs1560782372 G>A Pathogenic Stop gained, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1560973467 C>T Pathogenic Stop gained, missense variant, genic upstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1560973571 C>T Pathogenic Genic upstream transcript variant, 5 prime UTR variant, missense variant, synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1560980659 A>G Pathogenic Intron variant, genic upstream transcript variant, missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(495)
miRTarBase ID miRNA Experiments Reference
MIRT017374 hsa-miR-335-5p Microarray 18185580
MIRT026050 hsa-miR-196a-5p Sequencing 20371350
MIRT032174 hsa-let-7d-5p Sequencing 20371350
MIRT044268 hsa-miR-106b-5p CLASH 23622248
MIRT042084 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005783 Component Endoplasmic reticulum IDA 17628207
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611459 23088 ENSG00000120519
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q0GE19
Protein name Sodium/bile acid cotransporter 7 (Na(+)/bile acid cotransporter 7) (Solute carrier family 10 member 7)
Protein function Involved in teeth and skeletal development. Has an essential role in the biosynthesis and trafficking of glycosaminoglycans and glycoproteins, to produce a proper functioning extracellular matrix. Required for extracellular matrix mineralization
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13593 SBF_like 10 → 324 SBF-like CPA transporter family (DUF4137) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:15932064, PubMed:17628207). Expressed at high levels in liver and at lower levels in prostate, placenta, kidney, heart, lung, thymus and spleen (PubMed:15932064, PubMed:17628207). Strongly expressed in testis a
Sequence
Sequence length 340
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Amelogenesis imperfecta Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis rs773117913, rs1560973571, rs1560782372, rs1560980659, rs1560973467 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Restless Legs Syndrome Restless legs syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amelogenesis Imperfecta Associate 32350310, 34999954
Bone Diseases Metabolic Associate 32350310
Congenital Disorders of Glycosylation Associate 34999954
Growth Disorders Associate 34999954
HEM dysplasia Associate 32350310, 34999954
Joint Dislocations Associate 34999954
Myopathy with Storage of Glycoproteins and Glycosaminoglycans Associate 34999954