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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SLC10A7
solute carrier family 10 member 7
Chromosome 4 Β· 4q31.22
NCBI Gene: 84068Ensembl: ENSG00000120519.17HGNC: HGNC:23088UniProt: Q0GE19
27PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intracellular calcium ion homeostasisGolgi apparatusheparin proteoglycan biosynthetic processbone developmentshort stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosisskeletal dysplasiascoliosisShort stature
✦AI Summary

SLC10A7 is a Golgi-localized orphan transporter essential for skeletal and dental development 1. Unlike other SLC10 family members, SLC10A7 does not transport bile acids or steroid sulfates 2. Its primary function involves regulating intracellular calcium homeostasis as a negative regulator of store-operated calcium entry 3. SLC10A7 maintains tight ER and Golgi calcium regulation, which is critical for proper O-GalNAc glycosylation and glycosaminoglycan synthesis 4. Loss of SLC10A7 function impairs post-Golgi protein transport and causes defective N-glycosylation with accumulation of hybrid-type N-glycans 1. These glycosylation defects compromise extracellular matrix formation and mineralization, essential for bone development 5. SLC10A7 mutations cause a rare autosomal recessive congenital disorder of glycosylation (SLC10A7-CDG) characterized by skeletal dysplasia with multiple joint dislocations, short stature, amelogenesis imperfecta, and decreased bone mineral density 56. Mouse models recapitulate human pathology with shortened long bones, growth plate disorganization, and enamel anomalies 5. The mechanisms involve altered abundance of glycosylation enzymes (COSMC, C1GALT1) and abnormal Golgi localization of calcium-binding proteins 4. Manganese supplementation can partially rescue glycosylation defects, suggesting therapeutic potential 4.

Sources cited
1
SLC10A7 is a key Golgi transmembrane protein maintaining tight regulation of ER and Golgi calcium homeostasis essential for O-GalNAc glycosylation; identifies major glycosylation defects in patient cells
PMID: 39779512
2
SLC10A7 is essential for bone mineralization, regulates post-Golgi protein transport and glycosylation; mutations cause skeletal dysplasia with amelogenesis imperfecta and osteoporosis
PMID: 29878199
3
SLC10A7 mutations cause skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects; decreased heparan sulfate in patient fibroblasts and mouse model
PMID: 30082715
4
SLC10A7 is a negative regulator of intracellular calcium signaling acting via STIM1, Orai1, and SERCA2; protein expression negatively correlates with store-operated calcium entry
PMID: 32350310
5
SLC10A7 is a 10-transmembrane domain transporter with broad tissue expression; lacks transport activity for bile acids and steroid sulfates despite SLC10 family membership
PMID: 17628207
6
Homozygous SLC10A7 mutations cause short stature, amelogenesis imperfecta, and progressive skeletal dysplasia with scoliosis requiring surgical intervention
PMID: 38037133
7
SLC10A7 mutations are responsible for a congenital disorder of glycosylation; plays role in calcium regulation and heparan-sulfate and N-glycosylation
PMID: 34999954
8
SLC10A7 is an orphan member of SLC10 family with undetermined substrate specificity, potentially involved in solute transport
PMID: 23506869
Disease Associationsβ“˜21
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosisOpen Targets
0.77Strong
skeletal dysplasiaOpen Targets
0.38Weak
scoliosisOpen Targets
0.37Weak
Short statureOpen Targets
0.37Weak
Corneal opacityOpen Targets
0.31Weak
Cerebral degenerationOpen Targets
0.29Weak
smoking initiationOpen Targets
0.28Weak
infectious diseaseOpen Targets
0.28Weak
obesityOpen Targets
0.27Weak
restless legs syndromeOpen Targets
0.26Weak
cervical carcinomaOpen Targets
0.25Weak
Respiratory insufficiencyOpen Targets
0.24Weak
cardiovascular diseaseOpen Targets
0.24Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
connective tissue diseaseOpen Targets
0.19Weak
kidney diseaseOpen Targets
0.18Weak
cleidocranial dysplasia 1Open Targets
0.06Suggestive
craniometadiaphyseal dysplasia, wormian bone typeOpen Targets
0.06Suggestive
otopalatodigital syndrome type 1Open Targets
0.05Suggestive
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosisUniProt
Pathogenic Variants7
NM_001029998.6(SLC10A7):c.285del (p.Leu95fs)Pathogenic
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
β˜…β˜†β˜†β˜†2024β†’ Residue 95
NM_001029998.6(SLC10A7):c.184G>T (p.Glu62Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 62
NM_001029998.6(SLC10A7):c.221T>C (p.Leu74Pro)Pathogenic
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis|not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 74
NM_001029998.6(SLC10A7):c.722-16A>GPathogenic
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
β˜†β˜†β˜†β˜†2019
NM_001029998.6(SLC10A7):c.388G>A (p.Gly130Arg)Pathogenic
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
β˜†β˜†β˜†β˜†2019β†’ Residue 130
NM_001029998.6(SLC10A7):c.553C>T (p.Gln185Ter)Pathogenic
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
β˜†β˜†β˜†β˜†2019β†’ Residue 185
NM_001029998.6(SLC10A7):c.335G>A (p.Gly112Asp)Pathogenic
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
β˜†β˜†β˜†β˜†2019β†’ Residue 112
View on ClinVar β†—
Related Genes
SLC10A1Protein interaction92%SLC10A6Protein interaction74%SLC10A5Protein interaction69%SLC10A3Protein interaction60%RMDN3Shared pathway33%OGNShared pathway25%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
96%
Lung
77%
Ovary
73%
Heart
50%
Brain
34%
Gene Interaction Network
Click a node to explore
SLC10A7SLC10A1SLC10A6SLC10A5SLC10A3RMDN3OGN
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q0GE19
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.67 [0.47–0.97]
RankingsWhere SLC10A7 stands among ~20K protein-coding genes
  • #12,669of 20,598
    Most Researched27
  • #3,258of 5,498
    Most Pathogenic Variants7
  • #9,158of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedSLC10A7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
SLC10A7 regulates O-GalNAc glycosylation and Ca
PMID: 39779512
Cell Mol Life Sci Β· 2025
1.00
2
The solute carrier family 10 (SLC10): beyond bile acid transport.
PMID: 23506869
Mol Aspects Med Β· 2013
0.90
3
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
PMID: 38037133
Orphanet J Rare Dis Β· 2023
0.80
4
The orphan solute carrier SLC10A7 is a novel negative regulator of intracellular calcium signaling.
PMID: 32350310
Sci Rep Β· 2020
0.70
5
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
PMID: 30082715
Nat Commun Β· 2018
0.60