SLC10A7

Summary

SLC10A7 (solute carrier family 10 member 7, HGNC:23088) is a protein-coding gene on chromosome 4q31.22, encoding Sodium/bile acid cotransporter 7 (Q0GE19). Involved in teeth and skeletal development.

Predicted to enable symporter activity. Involved in bone development; heparin proteoglycan biosynthetic process; and intracellular calcium ion homeostasis. Located in Golgi apparatus; endoplasmic reticulum; and plasma membrane.

Source: NCBI Gene 84068 — RefSeq curated summary.

At a glance

• Gene–disease (curated): short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (Definitive, ClinGen)
• GWAS associations: 6
• Clinical variants (ClinVar): 91 total — 7 pathogenic
• Phenotypes (HPO): 38
• MANE Select transcript: NM_001029998

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23088
Approved symbol	SLC10A7
Name	solute carrier family 10 member 7
Location	4q31.22
Locus type	gene with protein product
Status	Approved
Aliases	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438
Ensembl gene	ENSG00000120519
Ensembl biotype	protein_coding
OMIM	611459
Entrez	84068

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000335472, ENST00000394059, ENST00000432059, ENST00000502607, ENST00000507030, ENST00000507560, ENST00000511315, ENST00000511374, ENST00000513583, ENST00000685433, ENST00000693222, ENST00000877733, ENST00000877734, ENST00000877735

RefSeq mRNA: 6 — MANE Select: NM_001029998 NM_001029998, NM_001300842, NM_001317816, NM_001317817, NM_001317818, NM_032128

CCDS: CCDS34073, CCDS3768, CCDS75198, CCDS82962, CCDS82963, CCDS82964

Canonical transcript exons

ENST00000335472 — 12 exons

Exon	Start	End
ENSE00002022534	146253981	146256520
ENSE00002045154	146521618	146521940
ENSE00003502413	146258692	146258837
ENSE00003543573	146325961	146325996
ENSE00003557127	146305926	146306009
ENSE00003559731	146283192	146283265
ENSE00003568708	146292929	146292980
ENSE00003605387	146509913	146510049
ENSE00003619145	146442783	146442821
ENSE00003632565	146293930	146294095
ENSE00003651790	146517038	146517120
ENSE00003688249	146503849	146503924

Expression profiles

Bgee: expression breadth ubiquitous, 219 present calls, max score 89.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.9643 / max 335.5785, expressed in 1796 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
54259	14.7782	1786
54257	1.6805	835
54258	0.2926	121
54256	0.2130	93

Top tissues by expression

242 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	89.39	gold quality
secondary oocyte	CL:0000655	88.92	gold quality
esophagus squamous epithelium	UBERON:0006920	85.78	gold quality
bone marrow cell	CL:0002092	85.39	gold quality
calcaneal tendon	UBERON:0003701	83.54	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.25	gold quality
adrenal tissue	UBERON:0018303	83.11	gold quality
colonic epithelium	UBERON:0000397	82.64	gold quality
germinal epithelium of ovary	UBERON:0001304	82.37	gold quality
pancreatic ductal cell	CL:0002079	82.10	silver quality
tibia	UBERON:0000979	81.65	gold quality
rectum	UBERON:0001052	81.12	gold quality
islet of Langerhans	UBERON:0000006	80.57	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.39	gold quality
corpus epididymis	UBERON:0004359	80.08	gold quality
lower esophagus mucosa	UBERON:0035834	79.61	gold quality
monocyte	CL:0000576	79.41	gold quality
leukocyte	CL:0000738	79.24	gold quality
oviduct epithelium	UBERON:0004804	79.13	gold quality
pancreas	UBERON:0001264	78.55	gold quality
mucosa of paranasal sinus	UBERON:0005030	78.19	gold quality
smooth muscle tissue	UBERON:0001135	78.05	gold quality
body of pancreas	UBERON:0001150	77.94	gold quality
caput epididymis	UBERON:0004358	77.74	gold quality
esophagus mucosa	UBERON:0002469	77.53	gold quality
bronchial epithelial cell	CL:0002328	77.49	gold quality
stromal cell of endometrium	CL:0002255	77.13	gold quality
gall bladder	UBERON:0002110	76.93	gold quality
oral cavity	UBERON:0000167	76.83	gold quality
oocyte	CL:0000023	76.79	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.29

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI2, SP1, TFAP2A

miRNA regulators (miRDB)

77 targeting SLC10A7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-379-3P	99.69	69.60	1524

Literature-anchored findings (GeneRIF, showing 8)

• cloning and characterization; mapped to chromosome 4q31.2 and contains 12 exons; widely expressed in human tissues (PMID:15932064)
• Molecular characterization and expression analysis of a novel member of the SLC10 family, SLC10A7, previously known as C4orf13, is reported (PMID:17628207)
• Mutation in SLC10A7 gene is associated with anxiety defective bone mineralization. (PMID:29878199)
• SLC10A7 is involved in glycosaminoglycan synthesis and specifically in skeletal development. SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta. (PMID:30082715)
• The orphan solute carrier SLC10A7 is a novel negative regulator of intracellular calcium signaling. (PMID:32350310)
• Circular RNA circHECTD1 facilitates glioma progression by regulating the miR-296-3p/SLC10A7 axis. (PMID:33561315)
• SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation. (PMID:34999954)
• Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine. (PMID:38037133)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc10a7	ENSDARG00000104508
mus_musculus	Slc10a7	ENSMUSG00000031684
rattus_norvegicus	Slc10a7	ENSRNOG00000011991

Protein

Protein identifiers

Sodium/bile acid cotransporter 7 — Q0GE19 (reviewed: Q0GE19)

Alternative names: Na(+)/bile acid cotransporter 7, Solute carrier family 10 member 7

All UniProt accessions (2): A0A8I5QJB5, Q0GE19

UniProt curated annotations — full annotation on UniProt →

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. Also involved in the regulation of cellular calcium homeostasis. Does not show transport activity towards bile acids or steroid sulfates (including taurocholate, cholate, chenodeoxycholate, estrone-3-sulfate, dehydroepiandrosterone sulfate (DHEAS) and pregnenolone sulfate).

Subcellular location. Cell membrane. Endoplasmic reticulum membrane. Golgi apparatus membrane.

Tissue specificity. Widely expressed. Expressed at high levels in liver and at lower levels in prostate, placenta, kidney, heart, lung, thymus and spleen. Strongly expressed in testis and also detected in brain, ovary, colon and small intestine. Weakly expressed in testis and not detected in brain, ovary, colon or small intestine. Isoform 1: Expressed in liver, testis and placenta. Isoform 4: Expressed in liver, testis and placenta.

Disease relevance. Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) [MIM:618363] An autosomal recessive disorder characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, hearing impairment, and mildly impaired intellectual development. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.

Isoforms (7)

UniProt ID	Names	Canonical?
Q0GE19-2	2, A	yes
Q0GE19-1	1, C
Q0GE19-3	3
Q0GE19-4	4, B
Q0GE19-5	5
Q0GE19-6	6
Q0GE19-7	7

RefSeq proteins (6): NP_001025169, NP_001287771, NP_001304745, NP_001304746, NP_001304747, NP_115504 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016833	Put_Na-Bile_cotransptr	Family
IPR038770	Na+/solute_symporter_sf	Homologous_superfamily

Pfam: PF13593

UniProt features (38 total): topological domain 11, transmembrane region 10, splice variant 10, sequence variant 5, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q0GE19-F1	85.21	0.42

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 302 (showing top): GOBP_SKELETAL_SYSTEM_DEVELOPMENT, TGACCTY_ERR1_Q2, FOXO4_01, FOXO1_01, CACCAGC_MIR138, GTACAGG_MIR486, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, FOXD3_01, GOBP_MONOATOMIC_CATION_TRANSPORT, GTGCCTT_MIR506, GOBP_BONE_DEVELOPMENT, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, HFH8_01, FOXJ2_01, HFH4_01

GO Biological Process (6): sodium ion transport (GO:0006814), intracellular calcium ion homeostasis (GO:0006874), heparin proteoglycan biosynthetic process (GO:0030210), bone development (GO:0060348), monoatomic ion transport (GO:0006811), transmembrane transport (GO:0055085)

GO Molecular Function (2): symporter activity (GO:0015293), protein binding (GO:0005515)

GO Cellular Component (6): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
metal ion transport	1
intracellular monoatomic cation homeostasis	1
calcium ion homeostasis	1
heparin proteoglycan metabolic process	1
protein O-linked glycosylation via xylose	1
skeletal system development	1
animal organ development	1
cellular process	1
secondary active transmembrane transporter activity	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1010 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC10A7	SLC10A1	Q14973	916
SLC10A7	SLC10A5	Q5PT55	794
SLC10A7	SLC10A3	P09131	753
SLC10A7	SLC10A6	Q3KNW5	738
SLC10A7	SLC10A4	Q96EP9	690
SLC10A7	SLC10A2	Q12908	597
SLC10A7	TMEM165	Q9HC07	559
SLC10A7	SLC35F5	Q8WV83	479
SLC10A7	CANT1	Q8WVQ1	420
SLC10A7	ABCC2	Q92887	411
SLC10A7	XYLT1	Q86Y38	406
SLC10A7	KHDRBS2	Q5VWX1	406
SLC10A7	TMEM236	Q5W0B7	406
SLC10A7	BPNT2	Q9NX62	402
SLC10A7	GPC5	P78333	397

IntAct

30 interactions, top by confidence:

A	B	Type	Score
SLC10A7	DPY19L4	psi-mi:“MI:0915”(physical association)	0.710
EIF2B2	SLC27A2	psi-mi:“MI:0914”(association)	0.640
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
MME	TMEM223	psi-mi:“MI:0914”(association)	0.530
TOR1AIP2	TMEM223	psi-mi:“MI:0914”(association)	0.530
CD79A	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC10A7	APOB	psi-mi:“MI:0914”(association)	0.530
ISLR	BCKDK	psi-mi:“MI:0914”(association)	0.530
PCDHA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
ISLR	DDX11L8	psi-mi:“MI:0914”(association)	0.350
IQCF1	TBC1D4	psi-mi:“MI:0914”(association)	0.350
PCDHGA9	TMEM223	psi-mi:“MI:0914”(association)	0.350
CRELD1	TMEM223	psi-mi:“MI:0914”(association)	0.350
RAMP2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350
ATP2A1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
C5AR1	TCAF2	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
GCGR	GPR89A	psi-mi:“MI:0914”(association)	0.350
ATP13A3	GPR89A	psi-mi:“MI:0914”(association)	0.350
IL2RA	LTN1	psi-mi:“MI:0914”(association)	0.350
TOR1AIP2	XPO1	psi-mi:“MI:0914”(association)	0.350
SLC10A7	NUP155	psi-mi:“MI:0914”(association)	0.350

BioGRID (42): SLC10A7 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), ATP6V0D1 (Affinity Capture-MS), SLC10A7 (Affinity Capture-MS), SLC10A7 (Affinity Capture-MS), SLC10A7 (Affinity Capture-MS), SLC10A7 (Affinity Capture-MS), SLC10A7 (Affinity Capture-MS), SLC10A7 (Affinity Capture-MS), SLC10A7 (Affinity Capture-MS), KIAA0368 (Affinity Capture-MS), APOB (Affinity Capture-MS), SLC10A7 (Affinity Capture-RNA), SLC10A7 (Affinity Capture-MS), SLC10A7 (Affinity Capture-MS)

ESM2 similar proteins: A2AKQ0, A2VE55, A5GFZ5, B8B7Q4, F4JN00, O14494, O42602, O60762, O70152, O75352, O88956, P0CK96, P60588, Q0GE19, Q15B89, Q1JQ93, Q28HF8, Q2M3R5, Q3ZCD7, Q4L208, Q4R8V4, Q52KD1, Q5PT50, Q5PT53, Q5RDC9, Q5XF09, Q5ZJ75, Q5ZJH8, Q64232, Q6DBP3, Q6DHK8, Q6NMB6, Q6ZL17, Q762D5, Q76EJ3, Q7T0V6, Q8C811, Q8GUJ1, Q8IVW8, Q8R4D1

Diamond homologs: B8AJ09, F4IZC4, Q0GE19, Q28HF8, Q52KD1, Q6ESG1, Q7T0V6, Q5PT50, Q5PT53, Q5ZJH8, Q6DHK8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

91 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	0
Uncertain significance	40
Likely benign	27
Benign	5

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
1456568	NM_001029998.6(SLC10A7):c.184G>T (p.Glu62Ter)	Pathogenic
4292902	NM_001029998.6(SLC10A7):c.285del (p.Leu95fs)	Pathogenic
623252	NM_001029998.6(SLC10A7):c.722-16A>G	Pathogenic
623253	NM_001029998.6(SLC10A7):c.335G>A (p.Gly112Asp)	Pathogenic
623254	NM_001029998.6(SLC10A7):c.553C>T (p.Gln185Ter)	Pathogenic
623255	NM_001029998.6(SLC10A7):c.221T>C (p.Leu74Pro)	Pathogenic
623256	NM_001029998.6(SLC10A7):c.388G>A (p.Gly130Arg)	Pathogenic

SpliceAI

3600 predictions. Top by Δscore:

Variant	Effect	Δscore
4:146258687:CTCA:C	donor_loss	1.0000
4:146258688:TCAC:T	donor_loss	1.0000
4:146258689:CAC:C	donor_loss	1.0000
4:146258690:A:T	donor_loss	1.0000
4:146258691:CCTT:C	donor_gain	1.0000
4:146292981:C:CC	acceptor_gain	1.0000
4:146293928:A:AC	donor_gain	1.0000
4:146293929:C:CC	donor_gain	1.0000
4:146305920:CCTTA:C	donor_loss	1.0000
4:146305921:CTTAC:C	donor_loss	1.0000
4:146305922:TTA:T	donor_loss	1.0000
4:146305923:TA:T	donor_loss	1.0000
4:146305924:A:C	donor_loss	1.0000
4:146305925:C:CT	donor_loss	1.0000
4:146306005:CCAAG:C	acceptor_gain	1.0000
4:146306006:CAAG:C	acceptor_gain	1.0000
4:146306006:CAAGC:C	acceptor_gain	1.0000
4:146306007:AAG:A	acceptor_gain	1.0000
4:146306008:AG:A	acceptor_gain	1.0000
4:146306010:C:CC	acceptor_gain	1.0000
4:146306010:C:G	acceptor_loss	1.0000
4:146325959:A:AC	donor_gain	1.0000
4:146325960:C:CC	donor_gain	1.0000
4:146442781:A:AC	donor_gain	1.0000
4:146442782:C:CC	donor_gain	1.0000
4:146503925:C:CC	acceptor_gain	1.0000
4:146517004:C:CA	donor_gain	1.0000
4:146256484:T:TA	donor_gain	0.9900
4:146256517:CTCC:C	acceptor_gain	0.9900
4:146258834:ATTC:A	acceptor_gain	0.9900

AlphaMissense

2207 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:146283192:C:G	G283R	0.999
4:146283192:C:T	G283R	0.999
4:146283205:T:A	K278N	0.999
4:146283205:T:G	K278N	0.999
4:146283206:T:A	K278I	0.999
4:146283217:A:C	C274W	0.999
4:146305930:C:T	G184E	0.999
4:146442789:A:C	S143R	0.999
4:146442789:A:T	S143R	0.999
4:146442791:T:G	S143R	0.999
4:146442799:G:T	A140D	0.999
4:146442804:A:C	N138K	0.999
4:146442804:A:T	N138K	0.999
4:146442811:A:T	I136K	0.999
4:146509914:C:G	G107R	0.999
4:146517057:C:T	G55E	0.999
4:146517068:G:C	F51L	0.999
4:146517068:G:T	F51L	0.999
4:146517070:A:G	F51L	0.999
4:146517072:A:T	I50K	0.999
4:146258771:A:G	L305P	0.998
4:146258771:A:T	L305H	0.998
4:146258777:G:C	P303R	0.998
4:146258825:A:G	L287P	0.998
4:146258837:C:T	G283E	0.998
4:146283200:A:T	L280H	0.998
4:146283203:G:A	S279F	0.998
4:146283207:T:C	K278E	0.998
4:146293994:A:C	C219W	0.998
4:146293995:C:T	C219Y	0.998

dbSNP variants (sampled 300 via entrez): RS1000014417 (4:146443686 T>C), RS1000022006 (4:146513648 T>C), RS1000023446 (4:146345385 T>C), RS1000033531 (4:146254237 C>T), RS1000034741 (4:146514048 C>A,T), RS1000036165 (4:146498736 C>T), RS10000426 (4:146519112 T>A,G), RS1000055750 (4:146467213 C>G), RS10000604 (4:146394189 T>C), RS1000067790 (4:146266837 T>C), RS1000069426 (4:146459742 T>C), RS10000717 (4:146474200 C>A,T), RS1000099731 (4:146266499 A>C,G), RS1000101096 (4:146291594 A>G), RS1000105571 (4:146412723 A>C)

Disease associations

OMIM: gene MIM:611459 | disease phenotypes: MIM:618363

GenCC curated gene-disease

Disease	Classification	Inheritance
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	Definitive	AR

Mondo (1): short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MONDO:0032703)

Orphanet (0):

HPO phenotypes

38 total (30 of 38 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000175	Cleft palate
HP:0000201	Pierre-Robin sequence
HP:0000218	High palate
HP:0000303	Mandibular prognathia
HP:0000308	Microretrognathia
HP:0000311	Round face
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000670	Carious teeth
HP:0000705	Amelogenesis imperfecta
HP:0001263	Global developmental delay
HP:0001382	Joint hypermobility
HP:0001513	Obesity
HP:0001763	Pes planus
HP:0001956	Truncal obesity
HP:0002650	Scoliosis
HP:0002673	Coxa valga
HP:0002751	Kyphoscoliosis
HP:0002857	Genu valgum
HP:0003026	Short long bone
HP:0003071	Flattened epiphysis
HP:0003273	Hip contracture
HP:0003301	Irregular vertebral endplates
HP:0003307	Hyperlordosis
HP:0003417	Coronal cleft vertebrae
HP:0003498	Disproportionate short stature
HP:0004233	Advanced ossification of carpal bones
HP:0004322	Short stature

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001969_25	Heart rate	4.000000e-06
GCST007576_58	Chronotype	1.000000e-10
GCST010725_4	Malaria	4.000000e-10
GCST010725_84	Malaria	7.000000e-11
GCST010725_89	Malaria	7.000000e-11
GCST010988_84	Adult body size	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008328	chronotype measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — SLC10 family of sodium-bile acid co-transporters

CTD chemical–gene interactions

38 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases methylation	5
Cyclosporine	increases expression, affects cotreatment	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
beta-lapachone	increases expression	1
tobacco tar	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
nefazodone	affects cotreatment, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
jinfukang	decreases expression, affects cotreatment	1
Bortezomib	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases expression	1
Calcitriol	increases expression, affects cotreatment	1
Chenodeoxycholic Acid	affects cotreatment, decreases expression, increases expression	1
Cisplatin	decreases expression, affects cotreatment	1
Deoxycholic Acid	affects cotreatment, decreases expression, increases expression	1
Doxorubicin	decreases expression	1
Glycochenodeoxycholic Acid	affects cotreatment, decreases expression, increases expression	1
Glycocholic Acid	affects cotreatment, decreases expression, increases expression	1
Glycodeoxycholic Acid	decreases expression, increases expression, affects cotreatment	1
Dihydrotestosterone	increases expression	1

Cellosaurus cell lines

6 cell lines: 6 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4HH	HCT116-SLC10A7-KO-c21	Cancer cell line	Male
CVCL_D4HI	HCT116-SLC10A7-KO-c4	Cancer cell line	Male
CVCL_TL43	HAP1 SLC10A7 (-) 1	Cancer cell line	Male
CVCL_XS85	HAP1 SLC10A7 (-) 2	Cancer cell line	Male
CVCL_XS86	HAP1 SLC10A7 (-) 3	Cancer cell line	Male
CVCL_XS87	HAP1 SLC10A7 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.