SP6

Summary

SP6 (Sp6 transcription factor, HGNC:14530) is a protein-coding gene on chromosome 17q21.32, encoding Transcription factor Sp6 (Q3SY56). Promotes cell proliferation.

SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).

Source: NCBI Gene 80320 — RefSeq curated summary.

At a glance

• Gene–disease (curated): amelogenesis imperfecta, IIa 1K (Strong, GenCC)
• GWAS associations: 111
• Clinical variants (ClinVar): 118 total — 2 pathogenic
• Phenotypes (HPO): 3
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001258248

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14530
Approved symbol	SP6
Name	Sp6 transcription factor
Location	17q21.32
Locus type	gene with protein product
Status	Approved
Aliases	KLF14, Epfn
Ensembl gene	ENSG00000189120
Ensembl biotype	protein_coding
OMIM	608613
Entrez	80320

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000342234, ENST00000536300, ENST00000937756

RefSeq mRNA: 2 — MANE Select: NM_001258248 NM_001258248, NM_199262

CCDS: CCDS11520

Canonical transcript exons

ENST00000536300 — 2 exons

Exon	Start	End
ENSE00002288471	47850919	47851163
ENSE00002734451	47844908	47848486

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 84.39.

FANTOM5 (CAGE): breadth broad, TPM avg 3.2291 / max 213.9347, expressed in 643 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166614	1.8377	466
166613	0.7121	394
166615	0.6794	81

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	84.39	gold quality
upper arm skin	UBERON:0004263	83.45	gold quality
placenta	UBERON:0001987	83.01	gold quality
skin of abdomen	UBERON:0001416	79.67	gold quality
skin of leg	UBERON:0001511	79.60	gold quality
amniotic fluid	UBERON:0000173	79.33	silver quality
gingival epithelium	UBERON:0001949	78.27	silver quality
zone of skin	UBERON:0000014	78.19	gold quality
seminal vesicle	UBERON:0000998	77.43	gold quality
esophagus squamous epithelium	UBERON:0006920	76.67	silver quality
secondary oocyte	CL:0000655	75.49	silver quality
gingiva	UBERON:0001828	75.05	silver quality
mammalian vulva	UBERON:0000997	74.07	silver quality
epithelial cell of pancreas	CL:0000083	74.06	gold quality
pancreatic ductal cell	CL:0002079	74.01	silver quality
cartilage tissue	UBERON:0002418	73.55	silver quality
ileal mucosa	UBERON:0000331	72.43	gold quality
esophagus mucosa	UBERON:0002469	71.50	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	69.42	gold quality
mucosa of transverse colon	UBERON:0004991	69.19	gold quality
upper leg skin	UBERON:0004262	68.47	gold quality
nasal cavity epithelium	UBERON:0005384	68.26	gold quality
upper lobe of left lung	UBERON:0008952	67.61	gold quality
right lung	UBERON:0002167	66.75	gold quality
penis	UBERON:0000989	66.49	gold quality
sperm	CL:0000019	66.04	gold quality
tibia	UBERON:0000979	66.03	gold quality
kidney epithelium	UBERON:0004819	65.76	gold quality
upper lobe of lung	UBERON:0008948	65.66	gold quality
endothelial cell	CL:0000115	65.57	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.71

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

7 targets.

Target	Regulation
AMTN
ERVK-11
ROCK1
SP6
SPHK1
TGFB1	Repression
TGFBR2	Repression

Upstream regulators (CollecTRI, top): SP6

miRNA regulators (miRDB)

80 targeting SP6, 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-5193	100.00	67.26	1744
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-6081	99.48	66.07	1446

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 4)

• epiprofin (Epfn, also known as Sp6) plays crucial distinct roles in these transition stages as a cell cycle regulator and a transcription factor. (PMID:25344255)
• A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta. (PMID:32167558)
• A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta (PMID:33652941)
• Novel prostate cancer susceptibility gene SP6 predisposes patients to aggressive disease. (PMID:34012061)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sp6	ENSDARG00000099880
mus_musculus	Sp6	ENSMUSG00000038560
rattus_norvegicus	Sp6	ENSRNOG00000023551
drosophila_melanogaster	luna	FBGN0040765

Paralogs (22): KLF6 (ENSG00000067082), KLF8 (ENSG00000102349), KLF5 (ENSG00000102554), KLF1 (ENSG00000105610), KLF3 (ENSG00000109787), KLF7 (ENSG00000118263), KLF12 (ENSG00000118922), KLF9 (ENSG00000119138), KLF2 (ENSG00000127528), KLF16 (ENSG00000129911), KLF4 (ENSG00000136826), KLF10 (ENSG00000155090), KLF15 (ENSG00000163884), SP8 (ENSG00000164651), KLF13 (ENSG00000169926), SP7 (ENSG00000170374), KLF17 (ENSG00000171872), KLF11 (ENSG00000172059), SP5 (ENSG00000204335), SP9 (ENSG00000217236), KLF14 (ENSG00000266265), KLF18 (ENSG00000283039)

Protein

Protein identifiers

Transcription factor Sp6 — Q3SY56 (reviewed: Q3SY56)

Alternative names: Krueppel-like factor 14

All UniProt accessions (1): Q3SY56

UniProt curated annotations — full annotation on UniProt →

Function. Promotes cell proliferation. Plays a role in tooth germ growth. Plays a role in the control of enamel mineralization. Binds the AMBN promoter.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous.

Disease relevance. Amelogenesis imperfecta 1K (AI1K) [MIM:620104] A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1K is an autosomal dominant form characterized by hypoplastic enamel in all teeth. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.

Similarity. Belongs to the Sp1 C2H2-type zinc-finger protein family.

RefSeq proteins (2): NP_001245177, NP_954871 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096

UniProt features (13 total): zinc finger region 3, sequence variant 3, region of interest 3, compositionally biased region 2, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3SY56-F1	52.79	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 234 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, PAX4_01, SP3_Q3, GOBP_SPHINGOLIPID_MEDIATED_SIGNALING_PATHWAY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, AREB6_01, HNF1_Q6, LHX3_01, NFKB_Q6, NKX61_01, EVI1_05, PAX8_B, NFKB_C

GO Biological Process (4): epithelial to mesenchymal transition (GO:0001837), regulation of transcription by RNA polymerase II (GO:0006357), odontogenesis (GO:0042476), regulation of odontogenesis (GO:0042481)

GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
cellular anatomical structure	2
mesenchymal cell differentiation	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
animal organ morphogenesis	1
odontogenesis	1
regulation of animal organ morphogenesis	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
chromosome	1
intracellular membrane-bounded organelle	1
cytoplasm	1

Protein interactions and networks

STRING

980 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SP6	LIPN	Q5VXI9	879
SP6	ACRV1	P26436	773
SP6	PCSK5	Q92824	719
SP6	LRP5	O75197	666
SP6	ELOVL2	Q9NXB9	624
SP6	ELOVL5	Q9NYP7	585
SP6	TRIM59	Q8IWR1	582
SP6	FHL2	Q14192	576
SP6	CA1	P00915	542
SP6	SIN3A	Q96ST3	526
SP6	CDKAL1	Q5VV42	507
SP6	ARAP1	Q96P48	507
SP6	MTNR1B	P49286	506
SP6	C5orf67	F2Z3F1	506
SP6	ZBED3	Q96IU2	479
SP6	ZFAND6	Q6FIF0	479

IntAct

67 interactions, top by confidence:

A	B	Type	Score
SP6	MALSU1	psi-mi:“MI:0915”(physical association)	0.560
CALR	SP6	psi-mi:“MI:0915”(physical association)	0.560
DLST	SP6	psi-mi:“MI:0915”(physical association)	0.560
SP6	PRKACA	psi-mi:“MI:0915”(physical association)	0.560
PSEN2	SP6	psi-mi:“MI:0915”(physical association)	0.560
SP6	TGFBR2	psi-mi:“MI:0915”(physical association)	0.560
SP6		psi-mi:“MI:0915”(physical association)	0.560
SP6	NEK7	psi-mi:“MI:0915”(physical association)	0.560
SOD1	SP6	psi-mi:“MI:0915”(physical association)	0.560
HTT	SP6	psi-mi:“MI:0915”(physical association)	0.560
SP6		psi-mi:“MI:0407”(direct interaction)	0.540
	SP6	psi-mi:“MI:0407”(direct interaction)	0.540

BioGRID (33): SORL1 (Affinity Capture-MS), CCZ1 (Affinity Capture-MS), MYO18A (Affinity Capture-MS), TRAF7 (Affinity Capture-MS), C18orf8 (Affinity Capture-MS), MON1A (Affinity Capture-MS), GNB2 (Affinity Capture-MS), DNAAF3 (Affinity Capture-MS), C18orf8 (Affinity Capture-MS), MON1A (Affinity Capture-MS), DNAAF3 (Affinity Capture-MS), SORL1 (Affinity Capture-MS), GNB2 (Affinity Capture-MS), CCZ1 (Affinity Capture-MS), TRAF7 (Affinity Capture-MS)

ESM2 similar proteins: A1YGK1, A2T7E6, A4D1S0, A9YTQ3, B1WBS3, I7HJS4, O43593, O43918, O60304, O75593, O95201, P0C6A0, P0C7X2, P97609, Q2MHN3, Q3B7M4, Q3SY56, Q3U133, Q58DK7, Q5JPB2, Q5SXI5, Q5T619, Q61645, Q6KAU7, Q6NUN9, Q6ZMS7, Q76NI1, Q7Z6P3, Q8BZ34, Q8BZW2, Q8CGW9, Q8IWN7, Q8IXT2, Q8IZ20, Q8NBB4, Q8NDX1, Q8NHY3, Q91X45, Q96PX9, Q99558

Diamond homologs: A5ABV9, O08876, O14901, O70494, O89090, O89091, P08047, P0CG40, P41696, Q01714, Q02446, Q02447, Q0VA40, Q13351, Q22678, Q3SY56, Q5XGT8, Q62445, Q64HY3, Q64HY5, Q6BEB4, Q6NW96, Q6P0J3, Q8BMJ8, Q8IXZ3, Q8K1S5, Q8TDD2, Q8VI67, Q90WR8, Q9ESX2, Q9JHX2, Q9TZ64, A1C6L9, A1DH89, A2QCJ9, B0XSK6, B8NGC8, G4N3L5, K9GKQ6, O14335

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SP6	“down-regulates quantity by repression”	TGFBR2	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 23 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
response to xenobiotic stimulus	6	19.7×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	113
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1712318	NM_001258248.2(SP6):c.817_818delinsAA (p.Ala273Lys)	Pathogenic
997829	NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met)	Pathogenic

SpliceAI

391 predictions. Top by Δscore:

Variant	Effect	Δscore
17:47848483:GGACC:G	acceptor_loss	0.9600
17:47848485:ACCT:A	acceptor_loss	0.9600
17:47848486:CCT:C	acceptor_loss	0.9600
17:47848488:T:G	acceptor_loss	0.9600
17:47855650:TTACC:T	donor_loss	0.9600
17:47855651:TACCA:T	donor_loss	0.9600
17:47855652:A:AC	donor_gain	0.9600
17:47855653:C:CC	donor_gain	0.9600
17:47855653:CCAGT:C	donor_gain	0.9500
17:47855791:ACGG:A	donor_gain	0.9500
17:47855792:CGGC:C	donor_gain	0.9500
17:47855787:C:A	donor_gain	0.9400
17:47848487:C:CC	acceptor_gain	0.9000
17:47852271:C:A	donor_gain	0.8600
7:130733352:C:CT	acceptor_gain	0.8200
17:47847408:T:TA	donor_gain	0.8100
17:47852172:A:C	donor_gain	0.8000
17:47850914:CCTA:C	donor_loss	0.7700
17:47850915:CTA:C	donor_loss	0.7700
17:47850917:A:C	donor_loss	0.7700
17:47850918:CC:C	donor_loss	0.7700
17:47852270:T:TA	donor_gain	0.7700
17:47850673:C:CA	donor_gain	0.7600
17:47850919:C:G	donor_loss	0.7500
17:47850536:T:TA	donor_gain	0.7400
17:47849269:TGC:T	donor_gain	0.7300
17:47851108:G:GT	acceptor_gain	0.7300
7:130733349:A:T	acceptor_gain	0.7300
17:47848497:C:CT	acceptor_gain	0.7200
17:47849331:T:TA	donor_gain	0.7200

AlphaMissense

2430 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:47847434:G:C	H332Q	1.000
17:47847434:G:T	H332Q	1.000
17:47847436:G:C	H332D	1.000
17:47847436:G:T	H332N	1.000
17:47847457:G:T	R325S	1.000
17:47847461:G:C	F323L	1.000
17:47847461:G:T	F323L	1.000
17:47847462:A:G	F323S	1.000
17:47847463:A:G	F323L	1.000
17:47847473:G:C	C319W	1.000
17:47847475:A:G	C319R	1.000
17:47847482:A:C	C316W	1.000
17:47847484:A:G	C316R	1.000
17:47847488:G:C	F314L	1.000
17:47847488:G:T	F314L	1.000
17:47847490:A:G	F314L	1.000
17:47847506:G:C	H308Q	1.000
17:47847506:G:T	H308Q	1.000
17:47847508:G:C	H308D	1.000
17:47847516:A:G	L305P	1.000
17:47847518:G:C	H304Q	1.000
17:47847518:G:T	H304Q	1.000
17:47847520:G:C	H304D	1.000
17:47847520:G:T	H304N	1.000
17:47847528:A:G	L301P	1.000
17:47847545:G:C	F295L	1.000
17:47847545:G:T	F295L	1.000
17:47847546:A:G	F295S	1.000
17:47847547:A:G	F295L	1.000
17:47847558:C:T	C291Y	1.000

dbSNP variants (sampled 300 via entrez): RS1000011756 (17:47858847 T>C), RS1000096055 (17:47849052 T>G), RS1000111966 (17:47865730 A>G), RS1000139026 (17:47854644 G>A), RS1000249493 (17:47847591 C>T), RS1000418069 (17:47845258 G>A,C), RS1000674999 (17:47845064 A>G), RS1000692758 (17:47849912 T>C), RS1000705964 (17:47850677 G>T), RS1000767703 (17:47847969 C>A,T), RS1000767793 (17:47845746 C>G), RS1000940304 (17:47871392 G>C), RS1001046059 (17:47878011 C>A,T), RS1001106987 (17:47872103 GAA>G), RS1001153647 (17:47847037 A>C)

Disease associations

OMIM: gene MIM:608613 | disease phenotypes: MIM:620104, MIM:104500

GenCC curated gene-disease

Disease	Classification	Inheritance
amelogenesis imperfecta, IIa 1K	Strong	Autosomal dominant

Mondo (2): amelogenesis imperfecta, IIa 1K (MONDO:0031084), amelogenesis imperfecta (MONDO:0019507)

Orphanet (1): Amelogenesis imperfecta (Orphanet:88661)

HPO phenotypes

3 total (3 of 3 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000705	Amelogenesis imperfecta
HP:0006297	Enamel hypoplasia

GWAS associations

111 associations (top):

Study	Trait	p-value
GCST000712_2	Type 2 diabetes	2.000000e-10
GCST000755_39	HDL cholesterol	1.000000e-15
GCST001915_38	Alzheimer’s disease (cognitive decline)	8.000000e-08
GCST002223_9	HDL cholesterol	5.000000e-17
GCST002331_8	Basal cell carcinoma	9.000000e-11
GCST002553_9	Pancreatic cancer	3.000000e-12
GCST002782_215	Waist-to-hip ratio adjusted for body mass index	4.000000e-06
GCST002782_216	Waist-to-hip ratio adjusted for body mass index	9.000000e-06
GCST002842_6	Basal cell carcinoma	4.000000e-20
GCST002899_23	HDL cholesterol	8.000000e-10
GCST003081_8	Glucocorticoid-induced osteonecrosis (age 10 years and older)	4.000000e-06
GCST003726_19	Basal cell carcinoma	5.000000e-06
GCST004066_7	Hip circumference	1.000000e-09
GCST004067_219	Hip circumference adjusted for BMI	1.000000e-13
GCST004067_28	Hip circumference adjusted for BMI	2.000000e-06
GCST004232_24	HDL cholesterol levels	1.000000e-17
GCST005047_32	Type 2 diabetes	2.000000e-06
GCST005146_34	Birth weight	3.000000e-09
GCST005414_5	Type 2 diabetes	8.000000e-06
GCST005951_17	Body mass index	3.000000e-09
GCST005956_36	Waist-to-hip ratio adjusted for BMI	3.000000e-08
GCST005958_14	Waist-to-hip ratio adjusted for BMI (age >50)	1.000000e-07
GCST005959_25	Waist-to-hip ratio adjusted for BMI x sex interaction	3.000000e-06
GCST005962_34	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	6.000000e-07
GCST006075_22	Hair color	4.000000e-90
GCST006624_118	Systolic blood pressure	4.000000e-19
GCST006867_62	Type 2 diabetes	7.000000e-14
GCST006988_155	Blond vs. brown/black hair color	7.000000e-57
GCST006989_53	Brown vs. black hair color	2.000000e-28
GCST007267_325	Systolic blood pressure	3.000000e-09

EFO canonical traits (22, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference
EFO:0004344	birth weight
EFO:0004340	body mass index
EFO:0008343	sex interaction measurement
EFO:0008007	age at assessment
EFO:0006335	systolic blood pressure
EFO:0003924	hair color
EFO:0009929	Beta blocking agent use measurement
EFO:0009930	Calcium channel blocker use measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0009932	HMG CoA reductase inhibitor use measurement
EFO:0004530	triglyceride measurement
EFO:0004329	alcohol drinking
EFO:0000195	metabolic syndrome
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004615	apolipoprotein B measurement
EFO:0005000	leptin measurement
EFO:0007800	body fat percentage
EFO:0007793	BMI-adjusted leptin measurement
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D000567	Amelogenesis Imperfecta	C07.650.800.295.250; C07.793.700.295.250; C16.131.850.800.295.250

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	6
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Aflatoxin B1	decreases methylation	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
terbufos	increases methylation	1
trichostatin A	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases 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	increases expression, affects cotreatment	1
licochalcone B	increases expression	1
Atrazine	increases expression	1
Cisplatin	increases expression	1
Doxorubicin	decreases expression	1
Fonofos	increases methylation	1
Estradiol	decreases expression, affects cotreatment	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Nickel	decreases expression	1
Parathion	increases methylation	1
Smoke	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Triclosan	decreases expression	1
Urethane	increases expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01746121	Not specified	TERMINATED	Amelogenesis Imperfecta
NCT02994862	Not specified	UNKNOWN	E. Max Laminate Veneers With and Without Using Galla Chinnesis as Natural Cross Linking and Remineralizing Agent
NCT03810859	Not specified	UNKNOWN	Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants
NCT04704089	Not specified	RECRUITING	Colorimetric, Ultra-structural and Elemental Comparison of Dental Enamel Defects
NCT04897724	Not specified	UNKNOWN	Clinical Performance of Composites in Patients With Amelogenesis Imperfecta
NCT04927962	Not specified	COMPLETED	Psycho-social Impact of Amelogenesis and Dentinogenesis Imperfecta
NCT05343247	Not specified	COMPLETED	Dental Age Estimation by Different Methods in Patients With Amelogenesis Imperfecta
NCT07250906	Not specified	RECRUITING	Oral Health Related Quality of Life of Children With Amelogenesis Imperfecta