AMMECR1

Summary

AMMECR1 (AMMECR nuclear protein 1, HGNC:467) is a protein-coding gene on chromosome Xq23, encoding Nuclear protein AMMECR1 (Q9Y4X0).

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 9949 — RefSeq curated summary.

At a glance

• Gene–disease (curated): midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 135 total — 8 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 62
• Druggable target: yes
• MANE Select transcript: NM_015365

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:467
Approved symbol	AMMECR1
Name	AMMECR nuclear protein 1
Location	Xq23
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000101935
Ensembl biotype	protein_coding
OMIM	300195
Entrez	9949

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000262844, ENST00000372057, ENST00000372059, ENST00000473662, ENST00000496695, ENST00000680410, ENST00000686065, ENST00000697559

RefSeq mRNA: 3 — MANE Select: NM_015365 NM_001025580, NM_001171689, NM_015365

CCDS: CCDS14551, CCDS35368, CCDS55476

Canonical transcript exons

ENST00000262844 — 6 exons

Exon	Start	End
ENSE00000847163	110216518	110216632
ENSE00000847164	110202446	110202536
ENSE00000847165	110200954	110201050
ENSE00001456822	110194186	110198634
ENSE00001918550	110317599	110318085
ENSE00003619634	110264489	110264599

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 95.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.7722 / max 237.1816, expressed in 1770 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200147	11.3036	1765
200146	0.3278	142
200151	0.0827	48
200150	0.0581	29

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
esophagus squamous epithelium	UBERON:0006920	95.89	gold quality
buccal mucosa cell	CL:0002336	94.89	gold quality
trabecular bone tissue	UBERON:0002483	93.96	gold quality
gingival epithelium	UBERON:0001949	93.87	gold quality
squamous epithelium	UBERON:0006914	93.72	gold quality
gingiva	UBERON:0001828	93.16	gold quality
penis	UBERON:0000989	93.10	gold quality
epithelium of esophagus	UBERON:0001976	92.65	gold quality
germinal epithelium of ovary	UBERON:0001304	92.21	gold quality
amniotic fluid	UBERON:0000173	91.69	gold quality
mammalian vulva	UBERON:0000997	89.66	gold quality
oviduct epithelium	UBERON:0004804	89.46	gold quality
nipple	UBERON:0002030	89.33	gold quality
tongue squamous epithelium	UBERON:0006919	89.23	gold quality
upper leg skin	UBERON:0004262	88.69	gold quality
oral cavity	UBERON:0000167	88.58	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.64	gold quality
mucosa of paranasal sinus	UBERON:0005030	87.62	gold quality
cervix epithelium	UBERON:0004801	87.18	gold quality
placenta	UBERON:0001987	86.66	gold quality
pharyngeal mucosa	UBERON:0000355	86.63	gold quality
cervix squamous epithelium	UBERON:0006922	86.27	gold quality
skin of hip	UBERON:0001554	85.95	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.71	gold quality
bone marrow	UBERON:0002371	85.65	gold quality
adrenal tissue	UBERON:0018303	85.30	gold quality
parietal pleura	UBERON:0002400	84.95	gold quality
pancreatic ductal cell	CL:0002079	84.54	silver quality
pigmented layer of retina	UBERON:0001782	84.22	gold quality
choroid plexus epithelium	UBERON:0003911	83.65	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.78
E-MTAB-6142	no	75.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

348 targeting AMMECR1, 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-1252-5P	100.00	69.80	2774
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548AW	99.99	72.57	3559

Literature-anchored findings (GeneRIF, showing 5)

• PH0010 from Pyrococcus horikoshii is highly homologous to human AMMECR 1C-terminal region (PMID:15558565)
• We conclude that AMMECR1 is a critical gene in the pathogenesis of Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME), causing midface hypoplasia and elliptocytosis and contributing to early speech and language delay, infantile hypotonia and hearing loss (PMID:27811305)
• Study provides further evidence that mutated AMMECR1 gene is responsible for this clinically recognizable X-linked condition, Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex) with variable expressivity. (PMID:28089922)
• results suggest that AMMECR1 is potentially involved in cell cycle control and linked to a new syndrome with growth, bone, heart, and kidney alterations with or without elliptocytosis. (PMID:29193635)
• AMMECR1 plays a critical role in cell proliferation, cell-cycle progression, and apoptosis of human lung cancer cells, and may serve as a potential therapeutic target for non-small-cell lung cancer. (PMID:31519561)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ammecr1	ENSDARG00000012892
mus_musculus	Ammecr1	ENSMUSG00000042225
rattus_norvegicus	Ammecr1	ENSRNOG00000022166
drosophila_melanogaster	CG5902	FBGN0039136
caenorhabditis_elegans		WBGENE00011303

Paralogs (1): AMMECR1L (ENSG00000144233)

Protein

Protein identifiers

Nuclear protein AMMECR1 — Q9Y4X0 (reviewed: Q9Y4X0)

Alternative names: AMME syndrome candidate gene 1 protein

All UniProt accessions (4): Q9Y4X0, A0A0S2Z4V0, A0A0S2Z4X0, A0A8I5KSJ4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Disease relevance. Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) [MIM:300990] An X-linked recessive disorder with onset in early childhood, characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Variable clinical features include anemia, and mild early motor or speech delay. The disease is caused by variants affecting the gene represented in this entry. AMME complex (ATS-MR) [MIM:300194] An X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, intellectual disability, midface hypoplasia and elliptocytosis. The gene represented in this entry may be involved in disease pathogenesis.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9Y4X0-1	1	yes
Q9Y4X0-2	2
Q9Y4X0-3	3
Q9Y4X0-4	4

RefSeq proteins (3): NP_001020751, NP_001165160, NP_056180* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002733	AMMECR1_domain	Domain
IPR023473	AMMECR1	Family
IPR027485	AMMECR1_N	Homologous_superfamily
IPR036071	AMMECR1_dom_sf	Homologous_superfamily

Pfam: PF01871

UniProt features (11 total): splice variant 3, region of interest 2, compositionally biased region 2, chain 1, domain 1, sequence variant 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y4X0-F1	75.18	0.58

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 16

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 457 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GNF2_PRDX2, MORF_MSH3, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TTCCGTT_MIR191, GCANCTGNY_MYOD_Q6, MORF_BRCA1, MEF2_02, CACCAGC_MIR138, MORF_RAD51L3, ATGTTAA_MIR302C, AACWWCAANK_UNKNOWN, NKX61_01, GTGCCTT_MIR506, GGGCATT_MIR365

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	2
binding	1
nuclear lumen	1
cellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

804 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AMMECR1	ACSL4	O60488	929
AMMECR1	KCNE5	Q9UJ90	870
AMMECR1	COL4A5	P29400	849
AMMECR1	NXT2	Q9NPJ8	768
AMMECR1	GUCY2F	P51841	765
AMMECR1	TMEM164	Q5U3C3	625
AMMECR1	RTL9	Q8NET4	600
AMMECR1	OR10H5	Q8NGA6	447
AMMECR1	FAM9A	Q8IZU1	391
AMMECR1	ZBED4	O75132	389
AMMECR1	ACSL1	P33121	389
AMMECR1	PABIR2	Q7Z309	384
AMMECR1	SLC27A2	O14975	383
AMMECR1	PDZD11	Q5EBL8	376
AMMECR1	TMTC4	Q5T4D3	375

IntAct

50 interactions, top by confidence:

A	B	Type	Score
AMMECR1	CALCOCO2	psi-mi:“MI:0915”(physical association)	0.670
RBPMS	AMMECR1	psi-mi:“MI:0915”(physical association)	0.670
CALCOCO2	AMMECR1	psi-mi:“MI:0915”(physical association)	0.670
Axin1	LRP6	psi-mi:“MI:0914”(association)	0.600
AMMECR1	LRP6	psi-mi:“MI:0915”(physical association)	0.580
LRP6	AMMECR1	psi-mi:“MI:0915”(physical association)	0.580
AMMECR1	ADAMTSL4	psi-mi:“MI:0915”(physical association)	0.560
ADAMTSL4	AMMECR1	psi-mi:“MI:0915”(physical association)	0.560
AMMECR1	TRIM27	psi-mi:“MI:0915”(physical association)	0.560
AMMECR1	EFEMP2	psi-mi:“MI:0915”(physical association)	0.560
AMMECR1		psi-mi:“MI:0915”(physical association)	0.560
AMMECR1	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (45): CALCOCO2 (Two-hybrid), RBPMS (Two-hybrid), ADAMTSL4 (Two-hybrid), TSEN54 (Affinity Capture-MS), CLP1 (Affinity Capture-MS), PPIL4 (Affinity Capture-MS), GFER (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), HNRNPF (Affinity Capture-MS), PPIL4 (Affinity Capture-MS), GFER (Affinity Capture-MS), CLP1 (Affinity Capture-MS), TSEN54 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), MEOX2 (Two-hybrid)

ESM2 similar proteins: A6H7H1, O46606, P10276, P11274, P11416, P22605, P22681, P22682, P53349, P55266, Q03353, Q03354, Q03355, Q0VGY8, Q3UR85, Q496Y0, Q50H33, Q52L14, Q5FBR4, Q5RAS7, Q5RDA9, Q5RDQ3, Q66JB6, Q69ZT9, Q6A0A9, Q6DCA0, Q6NRE7, Q6NS60, Q6P3S6, Q6PAJ1, Q6PDJ6, Q6ZWB6, Q7ZTI3, Q8C3F2, Q8HXH0, Q8JZZ6, Q8K4S7, Q8NEL9, Q8TEK3, Q8TF61

Diamond homologs: A1RT97, A1RY70, A3DP40, A4WGW1, A6UTA8, A8MBB6, B6YW91, C3MJ10, C3MYC8, C3MZQ7, C3N830, C3NF81, C4KIY8, C5A6U0, O26945, O28310, O57770, O67431, Q0W787, Q12WB4, Q46BJ4, Q4JAL7, Q58220, Q5JFK7, Q5RAS7, Q5RDQ3, Q6DCA0, Q74M72, Q8JZZ6, Q8PZK8, Q8R8N9, Q8TK33, Q8TY18, Q8TZL1, Q8ZYJ4, Q976G0, Q978N1, Q980T4, Q9HLJ2, Q9HMH2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	9
Uncertain significance	61
Likely benign	9
Benign	5

Top pathogenic / likely-pathogenic (17)

Variant ID	HGVS	Classification
1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	Pathogenic
375304	NM_015365.3(AMMECR1):c.530G>A (p.Gly177Asp)	Pathogenic
446219	NC_000023.11:g.110250890_110665082del	Pathogenic
4532147	NM_015365.3(AMMECR1):c.756del (p.Ala253fs)	Pathogenic
4689804	NM_015365.3(AMMECR1):c.220del (p.Gln74fs)	Pathogenic
599546	NM_015365.3(AMMECR1):c.454del (p.Arg152fs)	Pathogenic
817076	NM_015365.3(AMMECR1):c.454dup (p.Arg152fs)	Pathogenic
998005	NM_015365.3(AMMECR1):c.805C>T (p.Gln269Ter)	Pathogenic
1254296	NM_015365.3(AMMECR1):c.794G>A (p.Trp265Ter)	Likely pathogenic
2582539	NM_015365.3(AMMECR1):c.887+2T>A	Likely pathogenic
3066002	NM_015365.3(AMMECR1):c.888-610_*1821del	Likely pathogenic
3767995	NM_015365.3(AMMECR1):c.790+1G>A	Likely pathogenic
3910029	NM_015365.3(AMMECR1):c.491G>A (p.Trp164Ter)	Likely pathogenic
446130	NM_015365.3(AMMECR1):c.429T>A (p.Tyr143Ter)	Likely pathogenic
4795934	NM_015365.3(AMMECR1):c.649G>A (p.Val217Met)	Likely pathogenic
592175	t(X;9)(q23;q12)dn	Likely pathogenic
817146	NM_015365.3(AMMECR1):c.433_448del (p.Tyr145fs)	Likely pathogenic

SpliceAI

1728 predictions. Top by Δscore:

Variant	Effect	Δscore
X:110200949:TGTA:T	donor_loss	1.0000
X:110200950:GTA:G	donor_loss	1.0000
X:110200951:TACC:T	donor_loss	1.0000
X:110200953:CC:C	donor_loss	1.0000
X:110201046:CCATC:C	acceptor_gain	1.0000
X:110201047:CATCC:C	acceptor_gain	1.0000
X:110201048:ATCC:A	acceptor_loss	1.0000
X:110201049:TCCTG:T	acceptor_loss	1.0000
X:110201050:CCTGT:C	acceptor_loss	1.0000
X:110201051:CT:C	acceptor_loss	1.0000
X:110201052:T:A	acceptor_loss	1.0000
X:110216633:C:CC	acceptor_gain	1.0000
X:110309426:CTA:C	donor_gain	1.0000
X:110317597:A:AC	donor_gain	1.0000
X:110317598:C:CC	donor_gain	1.0000
X:110419132:GTGG:G	donor_gain	1.0000
X:110419133:TGGG:T	donor_loss	1.0000
X:110419134:GG:G	donor_gain	1.0000
X:110419135:GG:G	donor_gain	1.0000
X:110419136:G:GA	donor_loss	1.0000
X:110198633:ACC:A	acceptor_loss	0.9900
X:110198634:CCT:C	acceptor_loss	0.9900
X:110198635:C:CC	acceptor_gain	0.9900
X:110200769:CA:C	donor_gain	0.9900
X:110200785:C:CT	donor_gain	0.9900
X:110200786:T:TT	donor_gain	0.9900
X:110200948:CTGTA:C	donor_loss	0.9900
X:110200973:T:A	donor_gain	0.9900
X:110201047:CATC:C	acceptor_gain	0.9900
X:110201049:TC:T	acceptor_gain	0.9900

AlphaMissense

2117 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:110198597:A:C	Y309D	1.000
X:110198625:A:C	S299R	1.000
X:110198625:A:T	S299R	1.000
X:110198626:C:A	S299I	1.000
X:110198626:C:T	S299N	1.000
X:110198627:T:G	S299R	1.000
X:110198632:T:C	Y297C	1.000
X:110198632:T:G	Y297S	1.000
X:110198633:A:C	Y297D	1.000
X:110198633:A:G	Y297H	1.000
X:110198633:A:T	Y297N	1.000
X:110198634:C:A	R296S	1.000
X:110198634:C:G	R296S	1.000
X:110200954:C:A	R296M	1.000
X:110200960:A:G	L294P	1.000
X:110200960:A:T	L294Q	1.000
X:110200966:A:C	I292R	1.000
X:110200966:A:T	I292K	1.000
X:110200974:C:A	R289S	1.000
X:110200974:C:G	R289S	1.000
X:110200975:C:A	R289M	1.000
X:110200975:C:G	R289T	1.000
X:110200976:T:C	R289G	1.000
X:110200990:A:T	I284N	1.000
X:110201000:T:C	K281E	1.000
X:110201003:A:C	Y280D	1.000
X:110201005:C:A	G279V	1.000
X:110201005:C:T	G279E	1.000
X:110201006:C:G	G279R	1.000
X:110201006:C:T	G279R	1.000

dbSNP variants (sampled 300 via entrez): RS1000003600 (X:110352381 T>G), RS1000014040 (X:110282224 G>C), RS1000022298 (X:110224512 G>T), RS1000053110 (X:110362214 C>G,T), RS1000089617 (X:110349978 C>T), RS1000096822 (X:110221342 C>T), RS1000103740 (X:110361767 A>T), RS1000103882 (X:110423688 T>G), RS1000137405 (X:110293839 G>A), RS1000169722 (X:110421267 G>A), RS1000176119 (X:110272077 G>A), RS1000180526 (X:110260219 C>T), RS1000198968 (X:110211921 A>T), RS1000211517 (X:110293038 G>T), RS1000253426 (X:110234285 C>T)

Disease associations

OMIM: gene MIM:300195 | disease phenotypes: MIM:300990, MIM:617616

GenCC curated gene-disease

Disease	Classification	Inheritance
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	Strong	X-linked
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	Supportive	X-linked

Mondo (5): midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MONDO:0010516), Turner syndrome (MONDO:0019499), Skraban-Deardorff syndrome (MONDO:0054636), nephrocalcinosis (MONDO:0001567), Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome (MONDO:0010263)

Orphanet (3): Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome (Orphanet:688581), Turner syndrome (Orphanet:881), Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome (Orphanet:513456)

HPO phenotypes

62 total (30 of 62 shown, HPO-id order):

HPO	Term
HP:0000083	Renal insufficiency
HP:0000093	Proteinuria
HP:0000110	Renal dysplasia
HP:0000121	Nephrocalcinosis
HP:0000160	Narrow mouth
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000219	Thin upper lip vermilion
HP:0000233	Thin vermilion border
HP:0000272	Malar flattening
HP:0000337	Broad forehead
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000396	Overfolded helix
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000410	Mixed hearing impairment
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000518	Cataract
HP:0000545	Myopia
HP:0000565	Esotropia
HP:0000664	Synophrys
HP:0000678	Dental crowding
HP:0000684	Delayed eruption of teeth
HP:0000750	Delayed speech and language development
HP:0000944	Abnormal metaphysis morphology
HP:0001182	Tapered finger

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D009397	Nephrocalcinosis	C12.050.351.968.419.590; C12.200.777.419.590; C12.950.419.590; C18.452.174.130.560
D014424	Turner Syndrome	C12.050.351.875.253.309.872; C12.050.351.875.253.795.750; C12.200.706.316.309.872; C12.200.706.316.795.750; C12.800.316.309.872; C12.800.316.795.750; C14.240.400.980; C14.280.400.980; C16.131.240.400.970; C16.131.260.830.835.750; C16.131.939.316.309.872; C16.131.939.316.795.750; C16.320.180.830.835.750; C19.391.119.309.872; C19.391.119.795.750
C564570	Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724732 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases methylation, affects expression	4
arsenite	affects expression, affects binding, decreases reaction	2
Tobacco Smoke Pollution	decreases methylation, increases expression	2
Cyclosporine	decreases expression, increases expression	2
GSK-J4	increases expression	1
triphenyl phosphate	affects expression	1
salinomycin	decreases expression	1
testosterone undecanoate	affects cotreatment, decreases expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
torcetrapib	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Catechin	affects cotreatment, increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Coumestrol	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Formaldehyde	decreases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697638	Binding	Inhibition of AMMECR1 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00134745	PHASE4	COMPLETED	Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome
NCT00256126	PHASE4	COMPLETED	Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN®
NCT00266656	PHASE4	COMPLETED	Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01245374	PHASE4	COMPLETED	Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents
NCT01419249	PHASE4	COMPLETED	First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study
NCT01518062	PHASE4	COMPLETED	Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome
NCT01734486	PHASE4	COMPLETED	Growth Response in Girls With Turner Syndrome
NCT03015909	PHASE4	COMPLETED	Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj.
NCT06544473	PHASE4	RECRUITING	Determining Dose Equivalence Between Oral and Transdermal Estrogen Treatment in Women With Turner Syndrome
NCT06570460	PHASE4	RECRUITING	Long Term Effects of Oral Versus Transdermal Estrogen Replacement Therapy in Turner Syndrome
NCT06834594	PHASE4	RECRUITING	Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome
NCT00029159	PHASE3	COMPLETED	The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00191113	PHASE3	COMPLETED	Somatropin Treatment to Final Height in Turner Syndrome
NCT00234533	PHASE3	COMPLETED	Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq
NCT00406926	PHASE3	COMPLETED	The Effect of Growth Hormone in Very Young Girls With Turner Syndrome
NCT01518036	PHASE3	COMPLETED	Use of Somatropin in Turner Syndrome
NCT01563926	PHASE3	COMPLETED	Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency
NCT01710696	PHASE3	COMPLETED	Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome
NCT05723835	PHASE3	ACTIVE_NOT_RECRUITING	A Research Study Looking at How Safe Somapacitan is and How Well it Works in Children Who Need Help to Grow - REAL 9
NCT07221851	PHASE3	RECRUITING	Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders
NCT07614152	PHASE3	NOT_YET_RECRUITING	The Efficacy and Safety of Inpegsomatropin Injection in Children With Turner Syndrome(TS) and Short Stature
NCT00249951	PHASE3	COMPLETED	Alkaline Citrate Treatment to Lower the Risk of Nephrocalcinosis in Preterm Infants
NCT01756547	PHASE3	UNKNOWN	Study to Assess the Efficacy and Safety of Oral Potassium Citrate on the Prevention of Nephrocalcinosis in Extreme Premature
NCT00001221	PHASE2	COMPLETED	Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome
NCT00001253	PHASE2	COMPLETED	The Effects of Estrogen on Cognition in Girls With Turner Syndrome
NCT03189160	PHASE2	UNKNOWN	A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome
NCT05690386	PHASE2	ACTIVE_NOT_RECRUITING	A Trial to Investigate Different Doses of Lonapegsomatropin Compared to Somatropin in Individuals With Turner Syndrome
NCT05838885	PHASE2	COMPLETED	A Trial of YPEG-rhGH in Children With Short Stature
NCT05849389	PHASE2	RECRUITING	Vosoritide for Short Stature in Turner Syndrome
NCT07041814	PHASE2	NOT_YET_RECRUITING	A Study Comparing Different Treatment Approaches for the Initiation of Puberty in Girls With Turner Syndrome Using a TRIFECTA-DARED Approach for Rare Diseases
NCT04495608	PHASE2	COMPLETED	Multicenter, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Fluconazole in Hypercalcicuric Patients With Increased 1.25(OH) 2D Levels
NCT00097526	Not specified	COMPLETED	Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD)
NCT00097552	Not specified	COMPLETED	A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone
NCT00121875	Not specified	TERMINATED	Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature
NCT00419107	Not specified	TERMINATED	Beta Cell Function in Women With Turner Syndrome
NCT00420654	Not specified	COMPLETED	Growth Hormone Treatment of Women With Turner Syndrome
NCT00443144	Not specified	COMPLETED	D3-GHR Polymorphism and Turner Syndrome
NCT00471731	Not specified	COMPLETED	Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure