MRAP

Summary

MRAP (melanocortin 2 receptor accessory protein, HGNC:1304) is a protein-coding gene on chromosome 21q22.11, encoding Melanocortin-2 receptor accessory protein (Q8TCY5). Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R).

This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 56246 — RefSeq curated summary.

At a glance

• Gene–disease (curated): glucocorticoid deficiency 2 (Definitive, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 58 total — 8 pathogenic
• Phenotypes (HPO): 56
• MANE Select transcript: NM_001379228

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1304
Approved symbol	MRAP
Name	melanocortin 2 receptor accessory protein
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	B27, FALP, MRAP1
Ensembl gene	ENSG00000170262
Ensembl biotype	protein_coding
OMIM	609196
Entrez	56246

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000303645, ENST00000339944, ENST00000399784, ENST00000497833, ENST00000961467

RefSeq mRNA: 4 — MANE Select: NM_001379228 NM_001285394, NM_001379228, NM_178817, NM_206898

CCDS: CCDS13612, CCDS13613

Canonical transcript exons

ENST00000303645 — 3 exons

Exon	Start	End
ENSE00001819828	32298855	32299077
ENSE00003497665	32306640	32306739
ENSE00003624361	32311684	32312290

Expression profiles

Bgee: expression breadth ubiquitous, 154 present calls, max score 97.83.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9577 / max 174.4470, expressed in 76 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
188802	0.5518	61
188804	0.3514	50
188803	0.0545	26

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland	UBERON:0001233	97.83	gold quality
adrenal tissue	UBERON:0018303	97.65	gold quality
right adrenal gland cortex	UBERON:0035827	97.50	gold quality
left adrenal gland	UBERON:0001234	97.34	gold quality
left adrenal gland cortex	UBERON:0035825	96.61	gold quality
adrenal cortex	UBERON:0001235	96.32	gold quality
adrenal gland	UBERON:0002369	95.72	gold quality
adipose tissue	UBERON:0001013	90.98	gold quality
adipose tissue of abdominal region	UBERON:0007808	90.21	gold quality
omental fat pad	UBERON:0010414	89.98	gold quality
peritoneum	UBERON:0002358	89.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.81	gold quality
subcutaneous adipose tissue	UBERON:0002190	88.95	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.96	gold quality
thoracic mammary gland	UBERON:0005200	76.99	gold quality
mammary gland	UBERON:0001911	76.66	gold quality
skin of hip	UBERON:0001554	75.39	gold quality
pericardium	UBERON:0002407	71.63	gold quality
mammary duct	UBERON:0001765	68.80	silver quality
left coronary artery	UBERON:0001626	68.00	gold quality
tibial nerve	UBERON:0001323	66.35	gold quality
coronary artery	UBERON:0001621	66.22	gold quality
upper leg skin	UBERON:0004262	64.29	silver quality
hindlimb stylopod muscle	UBERON:0004252	62.92	gold quality
right lobe of liver	UBERON:0001114	62.73	gold quality
right lung	UBERON:0002167	62.67	gold quality
sural nerve	UBERON:0015488	61.83	gold quality
lateral nuclear group of thalamus	UBERON:0002736	61.14	gold quality
mucosa of stomach	UBERON:0001199	60.56	gold quality
left ovary	UBERON:0002119	60.34	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.61

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): JUN, PPARG, SP1

miRNA regulators (miRDB)

19 targeting MRAP, 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-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-7158-5P	99.25	67.95	796
HSA-MIR-6878-3P	99.24	64.23	920
HSA-MIR-6744-3P	99.22	64.41	972
HSA-MIR-4757-5P	99.12	64.51	981
HSA-MIR-6792-5P	98.39	68.16	1330
HSA-MIR-1301-5P	98.09	66.62	495
HSA-MIR-6502-5P	98.09	66.73	495
HSA-MIR-6881-3P	98.04	68.24	1777
HSA-MIR-6821-3P	95.21	66.79	578

Literature-anchored findings (GeneRIF, showing 21)

• We identified mutations in a protein, now known as melanocortin 2 receptor accessory protein (MRAP). We show that MRAP interacts with MC2R and may have a role in the trafficking of MC2R from the endoplasmic reticulum to the cell surface. (PMID:15654338)
• MC2R-green fluorescent protein fusion transfected with either MRAPalpha or MRAPbeta was impaired both in cell membrane localization and signaling. (PMID:17456795)
• Familial glucocorticoid deficiency type 2, confirmed by a mutation of the MRAP gene. (PMID:17893271)
• MRAP is the first eukaryotic membrane protein identified with an antiparallel homodimeric structure. (PMID:18077336)
• The transmembrane domain of MRAP is the MC2R interaction domain and a conserved N-terminal tyrosine-rich domain of MRAP is required for trafficking MC2R to the cell surface. (PMID:18818285)
• MRAP not only facilitates MC2 receptor trafficking but also allows properly localized receptor to bind ACTH and consequently signal. (PMID:18981183)
• identify MRAP and MRAP2 as unique bidirectional regulators of the melanocortin receptor family (PMID:19329486)
• Data show that tall stature is associated with mutations in MC2R but not in MRAP. (PMID:19558534)
• No mutations in MC2R, MRAP or STAR were identified in any patient with Addison’s disease (PMID:19903795)
• study shows that novel missense mutations in MRAP are associated with a milder, late onset phenotype in two families with familial glucocorticoid deficiency (PMID:20427498)
• The MRAP promoter is activated by serum depletion according to promoter reporter assays in HEK 293 cells. (PMID:20494980)
• ACTH binding to MC2R stimulates PKA-dependent p44/p42(mapk) phosphorylation. (PMID:21195128)
• A novel MRAP mutation is identified in a neonate where disruption of intron 3 splice-site results in a prematurely terminated translation product causing complete lack of adrenocorticotrophic (ADTH) hormone receptor response. (PMID:21951701)
• The data suggest that MRAPalpha is involved in MC2R targeting to the plasma membrane, while MRAPbeta may enhance ACTH-MC2R coupling to cAMP production. (PMID:22366472)
• MRAP is positively regulated by ACTH and AngII in human adrenocortical tissues. (PMID:22419722)
• Data suggest that MRAP regulates expression of melanocortin receptors (MC1R-MC5R); MRAP is highly expressed in both zona fasciculata and undifferentiated zone of adrenal gland, sites of MC2R-mediated adrenal steroidogenesis. [REVIEW] (PMID:23418361)
• The results firmly establish that only the copy of MRAP oriented with the amino terminus on the extracellular side of the receptor is essential for Adrenocorticotropic Hormone signal transduction. (PMID:26424796)
• Data show that co-expression with MRAPalpha, but not MRAP2, enhances MC4R constitutive activity. MRAPalpha-enhanced MC4R constitutive activity is not dependent on MC4R complex glycosylation but may result from MRAPalpha-induced changes in MC4R conformational states. (PMID:26469516)
• MRAP expression in human cell line results in an ACTH responsive phenotype. (PMID:26576642)
• allele of the 5 insertion/deletion polymorphism in the Alpha-2-MRAP gene is related with an increase of oxidative stress in nephrolithiasis patients (PMID:28760704)
• Data (including data from studies in transgenic mice) suggest that MRAP plays critical role in (1) regulation of lipolysis in adipose tissue, (2) regulation of enzyme expression in adipose tissue, and (3) whole-body energy balance. (PMID:29217655)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mrap	ENSMUSG00000039956
rattus_norvegicus	Mrap	ENSRNOG00000021524

Protein

Protein identifiers

Melanocortin-2 receptor accessory protein — Q8TCY5 (reviewed: Q8TCY5)

Alternative names: B27, Fat cell-specific low molecular weight protein, Fat tissue-specific low MW protein

All UniProt accessions (1): Q8TCY5

UniProt curated annotations — full annotation on UniProt →

Function. Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells.

Subunit / interactions. Homodimer and heterodimer. Forms antiparallel homodimers and heterodimers with MRAP2. Interacts with MC1R, MC2R, MC3R, MC4R and MC5R.

Subcellular location. Cell membrane. Endoplasmic reticulum membrane.

Tissue specificity. Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in adipose tissues.

Disease relevance. Glucocorticoid deficiency 2 (GCCD2) [MIM:607398] A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the MRAP family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8TCY5-4	4	yes
Q8TCY5-1	1, Alpha, MRAP-alpha
Q8TCY5-2	2, Beta, MRAP-beta
Q8TCY5-3	3, Short

RefSeq proteins (4): NP_001272323, NP_001366157, NP_848932, NP_996781 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028111	MRAP	Family

Pfam: PF15183

UniProt features (11 total): splice variant 4, region of interest 2, chain 1, transmembrane region 1, helix 1, strand 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8GY7	ELECTRON MICROSCOPY	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TCY5-F1	58.50	0.11

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 212 (showing top): GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, MARTINEZ_RB1_TARGETS_UP, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOMF_G_PROTEIN_COUPLED_RECEPTOR_BINDING, GOMF_SIGNALING_RECEPTOR_BINDING, GOBP_LOCALIZATION_WITHIN_MEMBRANE, chr21q22, MARTINEZ_RB1_AND_TP53_TARGETS_UP, BURTON_ADIPOGENESIS_6, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOBP_ADENYLATE_CYCLASE_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_NEUROPEPTIDE_RECEPTOR_BINDING

GO Biological Process (5): protein localization to plasma membrane (GO:0072659), regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0106070), positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0106071), negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0106072), negative regulation of protein localization to plasma membrane (GO:1903077)

GO Molecular Function (8): signaling receptor regulator activity (GO:0030545), corticotropin hormone receptor binding (GO:0031780), type 3 melanocortin receptor binding (GO:0031781), type 4 melanocortin receptor binding (GO:0031782), type 5 melanocortin receptor binding (GO:0031783), identical protein binding (GO:0042802), type 1 melanocortin receptor binding (GO:0070996), protein binding (GO:0005515)

GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
melanocortin receptor binding	5
adenylate cyclase-activating G protein-coupled receptor signaling pathway	3
regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	2
protein localization to membrane	1
protein localization to cell periphery	1
regulation of G protein-coupled receptor signaling pathway	1
positive regulation of G protein-coupled receptor signaling pathway	1
negative regulation of G protein-coupled receptor signaling pathway	1
protein localization to plasma membrane	1
regulation of protein localization to plasma membrane	1
negative regulation of protein localization to cell periphery	1
negative regulation of protein localization to membrane	1
signaling receptor activity	1
molecular function regulator activity	1
protein binding	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded 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

328 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRAP	MC2R	Q01718	985
MRAP	POMC	P01189	893
MRAP	FGD3	Q5JSP0	808
MRAP	MC4R	P32245	726
MRAP	FGD1	P98174	609
MRAP	MC5R	P33032	589
MRAP	MC3R	P41968	572
MRAP	CRH	P06850	482
MRAP	MC1R	Q01726	451
MRAP	REN	P00797	444
MRAP	NPS	P0C0P6	435
MRAP	GNAS	Q5JWF2	428
MRAP	CRHR2	Q13324	401
MRAP	STAR	P49675	400
MRAP	CYP21A2	P04033	397

IntAct

24 interactions, top by confidence:

A	B	Type	Score
MRAP	MRAP	psi-mi:“MI:0915”(physical association)	0.570
MRAP2	MRAP	psi-mi:“MI:0915”(physical association)	0.570
MRAP	MC2R	psi-mi:“MI:0915”(physical association)	0.570
MRAP	CHAT	psi-mi:“MI:0915”(physical association)	0.560
MRAP	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
MRAP	MC3R	psi-mi:“MI:0915”(physical association)	0.400
MRAP	MC5R	psi-mi:“MI:0915”(physical association)	0.400
MC1R	MRAP	psi-mi:“MI:0915”(physical association)	0.400
MRAP	MC4R	psi-mi:“MI:0915”(physical association)	0.400
MRAP	RPL15	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (5): MRAP (Proximity Label-MS), MRAP (Two-hybrid), MRAP (Positive Genetic), MRAP (Affinity Capture-Western), MRAP (Affinity Capture-Western)

ESM2 similar proteins: A1A519, A6NFK2, A6NI87, D3Z1Q2, F1N8V3, F8W4H9, P0C7M3, P0DM64, P0DO92, P10544, Q0VFL4, Q2YDG1, Q3TYR5, Q495C1, Q4R989, Q503Y8, Q5SXH7, Q5TC04, Q5XEM9, Q640B5, Q66HF0, Q66LM5, Q68CR7, Q68UT4, Q6DGF6, Q6NUI1, Q6PCX9, Q6TXF5, Q76N89, Q7L4S7, Q7TP54, Q86UQ5, Q8C4X7, Q8C9R9, Q8CEZ0, Q8K0B3, Q8K3A6, Q8K4P8, Q8K4S1, Q8TCY5

Diamond homologs: D3Z1Q2, F8W4H9, P0DM64, Q68UT4, Q8TCY5, Q96G30, Q9D159

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
MRAP	“up-regulates activity”	MC2R	binding
MRAP	“down-regulates activity”	MC4R	binding
MRAP	“down-regulates activity”	MC1R	binding
MRAP	“down-regulates activity”	MC3R	binding
MRAP	“down-regulates activity”	MC5R	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	0
Uncertain significance	35
Likely benign	9
Benign	5

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
1836	NM_001379228.1(MRAP):c.106+1G>T	Pathogenic
1837	NM_001379228.1(MRAP):c.106+1G>C	Pathogenic
1838	NM_001379228.1(MRAP):c.106+1G>A	Pathogenic
1840	NM_001379228.1(MRAP):c.106+3_106+4insT	Pathogenic
1841	NM_001379228.1(MRAP):c.3G>A (p.Met1Ile)	Pathogenic
1843	NM_001379228.1(MRAP):c.17_23del (p.Asn6fs)	Pathogenic
444067	NM_001379228.1(MRAP):c.1A>G (p.Met1Val)	Pathogenic
444068	NM_001379228.1(MRAP):c.106+1del	Pathogenic

SpliceAI

836 predictions. Top by Δscore:

Variant	Effect	Δscore
21:32304016:GT:G	donor_gain	0.9900
21:32306634:CCGCA:C	acceptor_loss	0.9900
21:32306635:CGCAG:C	acceptor_loss	0.9900
21:32306636:GCA:G	acceptor_loss	0.9900
21:32306637:CAGAT:C	acceptor_loss	0.9900
21:32306638:A:AG	acceptor_gain	0.9900
21:32306638:A:C	acceptor_loss	0.9900
21:32306639:G:GG	acceptor_gain	0.9900
21:32306735:A:G	donor_gain	0.9900
21:32306736:TGAG:T	donor_loss	0.9800
21:32306737:GAGG:G	donor_loss	0.9800
21:32306738:AG:A	donor_loss	0.9800
21:32306739:GGT:G	donor_loss	0.9800
21:32306740:GTGG:G	donor_gain	0.9800
21:32306741:T:G	donor_loss	0.9800
21:32299078:G:GG	donor_gain	0.9700
21:32304018:GTC:G	donor_gain	0.9700
21:32306742:GG:G	donor_gain	0.9700
21:32306743:GG:G	donor_gain	0.9700
21:32304000:A:G	donor_gain	0.9600
21:32299074:AAACG:A	donor_loss	0.9400
21:32299075:AACG:A	donor_loss	0.9400
21:32299076:ACGTA:A	donor_loss	0.9400
21:32299077:CGTAA:C	donor_loss	0.9400
21:32299078:G:A	donor_loss	0.9400
21:32299079:T:TG	donor_loss	0.9400
21:32299080:AA:A	donor_loss	0.9400
21:32306639:GA:G	acceptor_gain	0.9400
21:32310078:G:T	donor_gain	0.9400
21:32299076:AC:A	donor_gain	0.9300

AlphaMissense

1121 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:32306666:A:C	S45R	0.991
21:32306668:C:A	S45R	0.991
21:32306668:C:G	S45R	0.991
21:32306660:T:A	W43R	0.967
21:32306660:T:C	W43R	0.967
21:32306678:T:C	F49L	0.947
21:32306680:C:A	F49L	0.947
21:32306680:C:G	F49L	0.947
21:32299027:A:T	D19V	0.931
21:32299076:A:C	K35N	0.927
21:32299076:A:T	K35N	0.927
21:32299026:G:C	D19H	0.912
21:32306655:C:A	A41E	0.901
21:32306673:C:A	A47D	0.898
21:32306670:T:C	L46P	0.884
21:32299015:A:T	E15V	0.879
21:32306676:C:A	A48D	0.878
21:32299027:A:C	D19A	0.875
21:32306691:T:G	L53R	0.875
21:32299017:T:C	Y16H	0.871
21:32306646:T:A	I38N	0.862
21:32299028:C:A	D19E	0.860
21:32299028:C:G	D19E	0.860
21:32306662:G:C	W43C	0.857
21:32306662:G:T	W43C	0.857
21:32306703:T:C	L57S	0.857
21:32299018:A:G	Y16C	0.851
21:32306691:T:A	L53H	0.851
21:32306693:T:C	F54L	0.844
21:32306695:C:A	F54L	0.844

dbSNP variants (sampled 300 via entrez): RS1000024618 (21:32307025 G>C), RS1000180123 (21:32312570 G>A), RS1000196999 (21:32296209 C>A), RS1000499054 (21:32307382 G>A,C), RS1000556129 (21:32300697 G>A,C), RS1000971863 (21:32304606 T>A,C), RS1001201948 (21:32306624 TCTC>T), RS1001304261 (21:32312193 T>C), RS1001645019 (21:32306977 C>T), RS1001814524 (21:32298007 G>A), RS1001822262 (21:32301314 T>C), RS1001865281 (21:32292642 A>G), RS1001897417 (21:32290417 G>A,T), RS1001948745 (21:32297642 T>C), RS1001996783 (21:32302272 T>C)

Disease associations

OMIM: gene MIM:609196 | disease phenotypes: MIM:607398, MIM:202200

GenCC curated gene-disease

Disease	Classification	Inheritance
glucocorticoid deficiency 2	Definitive	Autosomal recessive
familial glucocorticoid deficiency	Supportive	Autosomal recessive

Mondo (3): glucocorticoid deficiency 2 (MONDO:0011826), glucocorticoid deficiency 1 (MONDO:0024536), familial glucocorticoid deficiency (MONDO:0008733)

Orphanet (1): Familial glucocorticoid deficiency (Orphanet:361)

HPO phenotypes

56 total (30 of 56 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000027	Azoospermia
HP:0000028	Cryptorchidism
HP:0000098	Tall stature
HP:0000127	Renal salt wasting
HP:0000252	Microcephaly
HP:0000522	Alacrima
HP:0000826	Precocious puberty
HP:0000846	Adrenal insufficiency
HP:0000851	Congenital hypothyroidism
HP:0000953	Hyperpigmentation of the skin
HP:0001249	Intellectual disability
HP:0001285	Spastic tetraparesis
HP:0001325	Hypoglycemic coma
HP:0001336	Myoclonus
HP:0001508	Failure to thrive
HP:0001639	Hypertrophic cardiomyopathy
HP:0001824	Weight loss
HP:0001943	Hypoglycemia
HP:0001988	Recurrent hypoglycemia
HP:0002013	Vomiting
HP:0002014	Diarrhea
HP:0002019	Constipation
HP:0002039	Anorexia
HP:0002153	Hyperkalemia
HP:0002173	Hypoglycemic seizures
HP:0002187	Profound intellectual disability
HP:0002445	Tetraplegia
HP:0002571	Achalasia

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C565974	Familial Glucocorticoid Deficiency 1 (supp.)
C564577	Glucocorticoid Deficiency 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol S	increases methylation, increases expression	2
Dexamethasone	affects cotreatment, increases expression	2
Nickel	decreases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
bisphenol A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
CGP 52608	increases reaction, affects binding	1
K 7174	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Indomethacin	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1
1-Methyl-3-isobutylxanthine	increases expression, affects cotreatment	1
8-Bromo Cyclic Adenosine Monophosphate	decreases expression	1

Clinical trials (associated diseases)

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