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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 nameGene Name - the full gene name approved by the HGNC.
Solute carrier family 10 member 7
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLC10A7
SynonymsGene synonyms aliases
C4orf13, P7, SSASKS
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q31.22
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005783 Component Endoplasmic reticulum IDA 17628207
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005794 Component Golgi apparatus IDA 29878199
GO:0005797 Component Golgi medial cisterna IDA 22029531
Other IDsOther 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
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
Sequence
Sequence length 340
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Amelogenesis imperfecta Amelogenesis Imperfecta rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489, rs104894733, rs104894734, rs104894736, rs387906490, rs387906491, rs104894737, rs104894738, rs144411158, rs587776911, rs587776912, rs587776913, rs587776914, rs387907215, rs866941536, rs1560562738, rs1560562630, rs146645381, rs1560558455, rs587777515, rs587777516, rs587777530, rs139620139, rs587777531, rs587777535, rs587777536, rs587777537, rs606231462, rs1553275034, rs869320671, rs786201004, rs140015315, rs730882118, rs730880297, rs730880298, rs786204825, rs786204826, rs1555409827, rs1057517671, rs1057517672, rs556734208, rs146238585, rs202073531, rs1057519277, rs767907487, rs779823931, rs1060499539, rs1085307111, rs546603773, rs1553275070, rs1553275195, rs752102959, rs1554623490, rs1553888384, rs770804941, rs1553887511, rs557128345, rs1568724130, rs199527325, rs1603038146, rs773117913, rs1560973571, rs1560782372, rs1560980659, rs1560973467, rs772929908, rs762816338, rs1565222166, rs1595312054, rs1866200282, rs2086254952
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 26881866
Osteochondrodysplasia Osteochondrodysplasias rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061 29878199
Scoliosis Scoliosis, unspecified rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 29878199
Unknown
Disease name Disease term dbSNP ID References
Acquired kyphoscoliosis Acquired Kyphoscoliosis
Congenital kyphoscoliosis Congenital kyphoscoliosis
Dwarfism Dwarfism 29878199
High palate Byzanthine arch palate

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