SLC10A7 (solute carrier family 10 member 7)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 84068
Gene name Solute carrier family 10 member 7
Gene symbol SLC10A7
Synonyms (NCBI Gene)
C4orf13P7SSASKS
Chromosome 4
Chromosome location 4q31.22
SNPs SNP information provided by dbSNP.
4
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.
495
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611459 23088 ENSG00000120519
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis Pathogenic rs773117913, rs1560973571, rs1560782372, rs1560980659, rs1560973467 RCV000761377
RCV000761378
RCV000761379
RCV000761380
RCV000761381
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SLC10A7-related disorder Benign; Likely benign rs116538438, rs139872057, rs76346232, rs201948152, rs147461877, rs138035413 RCV003913537
RCV003916293
RCV003923485
RCV003946332
RCV003961215
RCV003910473
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease 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