SLC10A7: Solute Carrier Family 10 Member 7
A gene encoding a putative sodium/bile acid cotransporter involved in glycosaminoglycan synthesis and skeletal development.
Gene Information Card
| Symbol | SLC10A7 |
|---|---|
| Full Name | Solute Carrier Family 10 Member 7 |
| Gene Type | Protein-coding |
| Chromosomal Location | 4q31.22 |
| NCBI Gene ID | 84068 ncbi.nlm.nih.gov/gene/84068 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q0VGG9 |
| OMIM ID | 618463 |
| HGNC ID | 22987 |
| Aliases | P7C3, FLJ22471, MGC138290 |
Description
SLC10A7 encodes a member of the solute carrier family 10 (SLC10) of sodium/bile acid cotransporters. The protein is localized to the Golgi apparatus and is essential for normal glycosaminoglycan (GAG) sulfation and skeletal development. Loss-of-function mutations cause a recessive form of skeletal dysplasia with short stature, brachydactyly, and joint dislocations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Skeletal dysplasia with short stature, brachydactyly, and joint dislocations (OMIM 618463) | Biallelic loss-of-function mutations impair GAG sulfation in the Golgi, disrupting cartilage and bone development. | Multiple unrelated families; functional studies in patient fibroblasts show reduced GAG sulfation. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 8.2 | Medium |
| Bone | 5.1 | Low |
| Liver | 3.4 | Low |
| Kidney | 2.9 | Low |
| Brain | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 6.5 | Medium expression |
| HEK 293 (embryonic kidney) | 4.2 | Low expression |
| HeLa (cervical carcinoma) | 3.1 | Low expression |
| K562 (leukemia) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.622C>T (p.Arg208*) | Nonsense | <0.01% | Premature stop; loss of function |
| c.1045G>A (p.Gly349Arg) | Missense | <0.01% | Impaired GAG sulfation |
| c.1285C>T (p.Arg429Trp) | Missense | <0.01% | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish protein function, leading to defective GAG sulfation and skeletal dysplasia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • bile acid:sodium symporter activity (GO:0008508) | • integral component of membrane (GO:0016021) |
| • Golgi apparatus (GO:0005794) | • carbohydrate biosynthetic process (GO:0016051) |
| • bone development (GO:0060348) |
Pathways
• Glycosaminoglycan biosynthesis – heparan sulfate / chondroitin sulfate
• SLC10 family transporter pathway
Protein Summary
SLC10A7 is a 434-amino acid multi-pass transmembrane protein localized to the Golgi apparatus. It functions as a putative sodium-dependent transporter required for proper sulfation of glycosaminoglycans (GAGs). Deficiency leads to undersulfated GAGs, disrupting extracellular matrix composition in cartilage and bone, resulting in a recessive skeletal dysplasia phenotype.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC10A7 Knockout HEK293 Cell Line | EDJ-KQ9965 | Human | 84068 | Details Get a Quote |
| SLC10A7 Knockout A-549 Cell Line | EDJ-KQ36889 | Human | 84068 | Details Get a Quote |
| SLC10A7 Knockout HCT 116 Cell Line | EDJ-KQ36890 | Human | 84068 | Details Get a Quote |
| SLC10A7 Knockout HeLa Cell Line | EDJ-KQ36891 | Human | 84068 | Details Get a Quote |
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