MLANA

Summary

MLANA (melan-A, HGNC:7124) is a protein-coding gene on chromosome 9p24.1, encoding Melanoma antigen recognized by T-cells 1 (Q16655). Involved in melanosome biogenesis by ensuring the stability of GPR143.

Located in endoplasmic reticulum membrane; melanosome; and trans-Golgi network.

Source: NCBI Gene 2315 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 5 total — 1 pathogenic
• MANE Select transcript: NM_005511

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7124
Approved symbol	MLANA
Name	melan-A
Location	9p24.1
Locus type	gene with protein product
Status	Approved
Aliases	MART1, MART-1
Ensembl gene	ENSG00000120215
Ensembl biotype	protein_coding
OMIM	605513
Entrez	2315

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000381471, ENST00000381476, ENST00000381477, ENST00000482341, ENST00000490518

RefSeq mRNA: 1 — MANE Select: NM_005511 NM_005511

CCDS: CCDS6466

Canonical transcript exons

ENST00000381477 — 5 exons

Exon	Start	End
ENSE00000927858	5906885	5906998
ENSE00001488710	5908640	5910606
ENSE00001488741	5892450	5892551
ENSE00001488744	5890889	5890936
ENSE00003557085	5897557	5897653

Expression profiles

Bgee: expression breadth ubiquitous, 176 present calls, max score 94.67.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 53.4935 / max 10285.0940, expressed in 98 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95966	53.2088	96
95969	0.1212	38
95967	0.1038	33
95968	0.0539	30
95970	0.0058	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper leg skin	UBERON:0004262	94.67	gold quality
pigmented layer of retina	UBERON:0001782	86.30	gold quality
skin of abdomen	UBERON:0001416	83.61	gold quality
skin of leg	UBERON:0001511	83.24	gold quality
zone of skin	UBERON:0000014	83.21	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.47	gold quality
upper arm skin	UBERON:0004263	81.48	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.52	gold quality
mammalian vulva	UBERON:0000997	79.19	gold quality
skin of hip	UBERON:0001554	77.93	gold quality
penis	UBERON:0000989	75.20	gold quality
monocyte	CL:0000576	72.97	gold quality
mononuclear cell	CL:0000842	72.52	gold quality
leukocyte	CL:0000738	72.25	gold quality
adrenal tissue	UBERON:0018303	71.92	gold quality
calcaneal tendon	UBERON:0003701	69.44	gold quality
islet of Langerhans	UBERON:0000006	69.05	gold quality
granulocyte	CL:0000094	67.01	gold quality
nipple	UBERON:0002030	66.34	gold quality
rectum	UBERON:0001052	65.98	gold quality
gastrocnemius	UBERON:0001388	64.82	gold quality
muscle of leg	UBERON:0001383	64.74	gold quality
hindlimb stylopod muscle	UBERON:0004252	64.00	gold quality
gall bladder	UBERON:0002110	63.94	gold quality
right adrenal gland cortex	UBERON:0035827	63.21	gold quality
stromal cell of endometrium	CL:0002255	62.85	gold quality
minor salivary gland	UBERON:0001830	62.75	gold quality
right adrenal gland	UBERON:0001233	62.17	gold quality
mouth mucosa	UBERON:0003729	61.99	gold quality
left adrenal gland	UBERON:0001234	61.67	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-7407	yes	5020.48
E-MTAB-8142	yes	3461.45
E-GEOD-135922	yes	2346.01
E-ANND-5	yes	682.12
E-ENAD-20	no	2051.47
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): LITAF, MITF

miRNA regulators (miRDB)

61 targeting MLANA, 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-4795-3P	100.00	74.62	4024
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-2682-5P	99.73	67.38	1055

Literature-anchored findings (GeneRIF, showing 40)

• unexpected high frequency of T cells specific for the self-antigen Melan-A/MART-1 in CD8 single-positive thymocytes from human histocompatibility leukocyte antigen-A2 healthy individuals (PMID:11854361)
• Melanosomes from an Achilles tendon clear-cell sarcoma showed expression of the Melan-A gene. (PMID:12072203)
• The high frequency of Melan-A multimer(+) T cells can be explained by the existence of largely cross-reactive subsets of naive CD8(+) T cells displaying multiple specificities. (PMID:12119345)
• dominant function of TCRAV2 segment in forming the TCR repertoire specific for the human self Ag Melan-A/MART-1 (PMID:12444131)
• Data show that MITF appears to regulate the expression of the SILV and MLANA genes. (PMID:12819038)
• Antigen-specific T lymphocyte reactivity to MelanA/MART-1 and tyrosinase peptides was not observed ex vivo in our vitiligo patients, and only one patient demonstrated responses to MelanA/MART-1 (PMID:12925214)
• adrenocortical neoplasms showed strong and diffuse granular cytoplasmic staining for Melan A. No nuclear reaction was observed. (PMID:14663359)
• the expression of Melan-A/MART-1 in patient-derived cell cultures may help to identify a group of melanoma patients with prolonged survival (PMID:15305155)
• Melan-A is very useful in distinguishing between desmoplastic melanoma and sclerotic nevi. (PMID:15618925)
• Data suggest that MART-1 is indispensable for Pmel17 function and thus plays an important role in regulating mammalian pigmentation. (PMID:15695812)
• Two new Melan-A-derived CD4+ T cell epitopes have been identified that map to the 1-20 and 91-110 regions of the protein and are restricted by HLA-DR11 and HLA-DR52 molecules. (PMID:16814609)
• Blocking MAPK signaling augments antigen levels, thereby enhancing Melan-A/MART-1-specific cytotoxic T-cell responses to antigen-negative cells following MEK inhibition treatment. (PMID:17050671)
• Two novel Melan-A/MART-1-derived sequences recognized by CD4 T cells from melanoma patients provide the basis for monitoring of naturally occurring and vaccine-induced Melan-A/MART-1-specific CD4 T cell responses. (PMID:17082590)
• HMB-45 and Melan-A combined were positive in 100% of the renal angiomyolipomas. (PMID:17227112)
• Data show that the MAT-1 26-35 and 27-35 peptides adopt strikingly different conformations when bound to HLA-A2. (PMID:17719062)
• t cell recaptor antigens and the major histocompatibilyt complex are complexed with this protein. (PMID:17768347)
• the combinational characterization of calretinin (either by polyclonal or monoclonal antibody), inhibin alpha, and Melan-A expression is of great significance in the differential diagnosis of adrenocortical tumors. (PMID:18091323)
• these data significantly enlarge the fraction of melanoma patients susceptible to benefit from a Melan-A/MART1 vaccine approach. (PMID:18097665)
• Measurement of Melan-A, gp100, MAGE-3, MIA and tyrosinase represents a prognostic factor and a method for early detection of metastasis and treatment response of melanoma patients. (PMID:18181974)
• Although melan-A-specific T cells were detectable, they are unlikely to be involved in the etiopathogenesis of vitiligo. (PMID:18337837)
• Increased staining with Melan-A, in an actinic keratosis, or solar lentigo should raise the possibility of a contiguous melanoma in situ. (PMID:18494818)
• results show a complex pattern of changes in the expression of Melan-A in melanomas depending on the location of melanoma cells within individual skin layers (PMID:18626310)
• the generation of larger numbers of ELAGIGILTV ((MART-1 26-35, A27L)-specific CD8+ T cells correlates negatively with the acquisition of a CD45RA+CCR7- phenotype and cytotoxic capacity. (PMID:19050104)
• T-cell receptor beta chain sequences of Melan-A-specific clonotypes obtained from melanoma patients were highly heterogeneous, but displayed a preferential usage of few TRBV and TRBJ segments. (PMID:19317896)
• Case Report: Melan-a-positive “pseudomelanocytic nests”: a pitfall in the histopathologic and immunohistochemical diagnosis of pigmented lesions on sun-damaged skin. (PMID:19384076)
• OA1 interacts with MART-1 at early stages of melanogenesis to control melanosome identity and composition. (PMID:19717472)
• Melanocyte MART-1 may correlate to the autoimmune mechanism in children with vitiligo. (PMID:19861278)
• determined the crystal structure of a phosphopeptide derived from melanoma antigen recognized by T cells-1 (pMART-1), selectively expressed by melanomas, in complex with HLA-DR1 (PMID:20417641)
• Molecular upstaging of MART-1 using rt-pcr was correlated with prognosis in melanoma patients (PMID:21135695)
• Translocation of the BCL2 gene on the chromosome band 18q21.3 and MYC translocation to 14q32/IGH or less commonly to 2p11/IGK in an identical cell is termed BCL2 and MYC dual-hit lymphoma/leukemia (PMID:21362015)
• Both semiscale and fullscale quantitative analyses of Ki67/MART1 stains are valuable diagnostic tools to distinguish melanomas and nevi with a large degree of certainty. (PMID:21610457)
• The differential expression of Mart-1 was investigated in four human uveal melanoma cells. (PMID:21667026)
• we established several CD4 T-cell clones that recognized a peptide that is embedded within Melan-A/MART-121-50, in a HLA-DPB1*0501 restricted manner (PMID:21760531)
• MART-1- and gp100-expressing and -non-expressing melanoma cells are equally proliferative in tumors and clonogenic in vitro. (PMID:21993558)
• Aberrant expression of Melan-A and MART-1 in AFX and undifferentiated pleomorphic sarcoma of the skin represents an important diagnostic pitfall with potential for misdiagnosis as melanoma. (PMID:22050092)
• The modified melan-A long peptides (not their wild-type counterparts) give rise to highly sustained cross-presentation capacity by monocyte-derived dendritic cells and could be used as tumor vaccines for treatment of melanoma patients. (PMID:22291187)
• The presence of circulating T cells responding to Melan-A or NY-ESO-1 had strong independent prognostic impact on survival in advanced melanoma. (PMID:22529253)
• Report diagnostic role of immunohistochemical staining for Melan-A in evaluating primary melanoma and, specifically, in situ melanoma cases. (PMID:22688397)
• naturally occurring MART-1 melanoma antigen can be taken-up from dying melanoma cells into DC or MAK and both cell types can induce specific CD8(+) T cell cross-presentation thereafter. (PMID:22768350)
• melan A (A103) is not expressed in mesotheliomas (PMID:22820661)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mlana	ENSMUSG00000024806
rattus_norvegicus	Mlana	ENSRNOG00000036608

Protein

Protein identifiers

Melanoma antigen recognized by T-cells 1 — Q16655 (reviewed: Q16655)

Alternative names: Antigen LB39-AA, Antigen SK29-AA, Protein Melan-A

All UniProt accessions (2): A0A384MR46, Q16655

UniProt curated annotations — full annotation on UniProt →

Function. Involved in melanosome biogenesis by ensuring the stability of GPR143. Plays a vital role in the expression, stability, trafficking, and processing of melanocyte protein PMEL, which is critical to the formation of stage II melanosomes.

Subunit / interactions. Interacts with PMEL. Interacts with GPR143.

Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus. trans-Golgi network membrane. Melanosome.

Tissue specificity. Expression is restricted to melanoma and melanocyte cell lines and retina.

Post-translational modifications. Acylated.

RefSeq proteins (1): NP_005502* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029242	MLANA	Family

Pfam: PF14991

UniProt features (6 total): chain 1, transmembrane region 1, topological domain 1, region of interest 1, modified residue 1, strand 1

Structure

Experimental structures (PDB)

26 structures.

PDB	Method	Resolution (Å)
2GTW	X-RAY DIFFRACTION	1.55
4WJ5	X-RAY DIFFRACTION	1.65
3QFD	X-RAY DIFFRACTION	1.68
2GTZ	X-RAY DIFFRACTION	1.7
2GT9	X-RAY DIFFRACTION	1.75
2GUO	X-RAY DIFFRACTION	1.9
3L6F	X-RAY DIFFRACTION	2.1
3MRP	X-RAY DIFFRACTION	2.1
6TMO	X-RAY DIFFRACTION	2.1
3MRQ	X-RAY DIFFRACTION	2.2
9O5S	X-RAY DIFFRACTION	2.27
7TR4	X-RAY DIFFRACTION	2.3
6D78	X-RAY DIFFRACTION	2.35
3MRO	X-RAY DIFFRACTION	2.35
4JFF	X-RAY DIFFRACTION	2.43
5E9D	X-RAY DIFFRACTION	2.51
4L3E	X-RAY DIFFRACTION	2.56
3QEQ	X-RAY DIFFRACTION	2.59
3QDM	X-RAY DIFFRACTION	2.8
4EUP	X-RAY DIFFRACTION	2.88
6DKP	X-RAY DIFFRACTION	2.97
3HG1	X-RAY DIFFRACTION	3
4QOK	X-RAY DIFFRACTION	3
5NHT	X-RAY DIFFRACTION	3.2
7Q9B	X-RAY DIFFRACTION	3.24
5NQK	X-RAY DIFFRACTION	3.25

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16655-F1	63.31	0.12

Antibody-complex structures (SAbDab): 1 — 7TR4

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): 108

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9824585	Regulation of MITF-M-dependent genes involved in pigmentation
R-HSA-1266738	Developmental Biology
R-HSA-9730414	MITF-M-regulated melanocyte development
R-HSA-9856651	MITF-M-dependent gene expression

MSigDB gene sets: 89 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, CAR_TNFRSF25, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, MODULE_64, HERNANDEZ_ABERRANT_MITOSIS_BY_DOCETACEL_2NM_UP, GOCC_TRANS_GOLGI_NETWORK, BLALOCK_ALZHEIMERS_DISEASE_UP, MODULE_157, CAR_MLANA, MODULE_568, MODULE_491, MODULE_104, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_PIGMENT_GRANULE, GOCC_ORGANELLE_SUBCOMPARTMENT

GO Biological Process (0):

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

GO Cellular Component (8): endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), plasma membrane (GO:0005886), melanosome membrane (GO:0033162), melanosome (GO:0042470), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
MITF-M-dependent gene expression	1
Developmental Biology	1
MITF-M-regulated melanocyte development	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
Golgi apparatus subcompartment	1
membrane	1
cell periphery	1
melanosome	1
chitosome	1
pigment granule membrane	1
pigment granule	1
cellular anatomical structure	1

Protein interactions and networks

STRING

826 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MLANA	PMEL	P40967	959
MLANA	TYR	P14679	926
MLANA	GPR143	P51810	898
MLANA	HHAT	Q5VTY9	768
MLANA	TYRP1	P17643	725
MLANA	SOX10	P56693	720
MLANA	MITF	O75030	716
MLANA	DCT	P40126	660
MLANA	TRPM1	Q7Z4N2	606
MLANA	SLC45A2	Q9UMX9	601
MLANA	PAX3	P23760	592
MLANA	RAB27A	P51159	573
MLANA	SLC24A5	Q71RS6	544
MLANA	MCAM	P43121	527
MLANA	OCA2	Q04671	524

IntAct

10 interactions, top by confidence:

A	B	Type	Score
ITCH	MLANA	psi-mi:“MI:0407”(direct interaction)	0.590
NEDD4	MLANA	psi-mi:“MI:0407”(direct interaction)	0.590
MLANA	NEDD4	psi-mi:“MI:0914”(association)	0.590
EPN2	MLANA	psi-mi:“MI:0915”(physical association)	0.560
MLANA	GPR143	psi-mi:“MI:0915”(physical association)	0.460
GPR143	MLANA	psi-mi:“MI:0403”(colocalization)	0.460
YAP1	MLANA	psi-mi:“MI:0407”(direct interaction)	0.440
MLANA	EPN2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): MLANA (Two-hybrid), MLANA (Protein-peptide), MLANA (Protein-peptide), MLANA (Protein-peptide), MLANA (Proximity Label-MS), NEDD4 (Affinity Capture-Western), ITCH (Affinity Capture-Western), NEDD4 (Reconstituted Complex), ITCH (Reconstituted Complex)

ESM2 similar proteins: A0A1B0GRQ0, A0A1B0GSZ0, A0A1B0GVT2, A0A590UK83, A0PK05, A2VDU1, A2VE22, A4QNL6, A5D7B5, A5D992, O43609, O75324, P0DKX4, P29414, P61807, P61808, Q0VFM5, Q15053, Q16655, Q17Q87, Q1L0X2, Q2KIK3, Q2TBG9, Q3MHM8, Q498C7, Q4V921, Q58CU5, Q5RBD8, Q5RF07, Q5RGQ8, Q64448, Q6UWT2, Q80ZU4, Q8BGN6, Q8BUM6, Q8C3K5, Q8C817, Q8K1D8, Q8N6S5, Q91VT8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MITF	“up-regulates quantity by expression”	MLANA	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	3
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1527478	GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)	Pathogenic

SpliceAI

637 predictions. Top by Δscore:

Variant	Effect	Δscore
9:5892550:GA:G	donor_gain	1.0000
9:5892552:G:GG	donor_gain	1.0000
9:5906878:A:AG	acceptor_gain	1.0000
9:5906883:A:AG	acceptor_gain	1.0000
9:5906883:AG:A	acceptor_gain	1.0000
9:5906884:G:GA	acceptor_gain	1.0000
9:5906884:GG:G	acceptor_gain	1.0000
9:5906996:GTG:G	donor_gain	1.0000
9:5906999:G:GG	donor_gain	1.0000
9:5907000:T:A	donor_loss	1.0000
9:5890932:GGAAG:G	donor_gain	0.9900
9:5890933:GAAGG:G	donor_gain	0.9900
9:5890934:A:T	donor_gain	0.9900
9:5890934:AAGG:A	donor_loss	0.9900
9:5890936:GGTAA:G	donor_loss	0.9900
9:5890937:GTAAG:G	donor_loss	0.9900
9:5890938:T:A	donor_loss	0.9900
9:5892547:GAAGA:G	donor_gain	0.9900
9:5892551:AG:A	donor_loss	0.9900
9:5892553:T:TC	donor_loss	0.9900
9:5892554:AA:A	donor_loss	0.9900
9:5906876:A:AG	acceptor_gain	0.9900
9:5906877:C:G	acceptor_gain	0.9900
9:5906884:GGA:G	acceptor_gain	0.9900
9:5906884:GGAT:G	acceptor_gain	0.9900
9:5906884:GGATA:G	acceptor_gain	0.9900
9:5907004:T:G	donor_gain	0.9900
9:5890933:GAAG:G	donor_gain	0.9800
9:5892449:GGT:G	acceptor_gain	0.9800
9:5892555:AG:A	donor_loss	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000054310 (9:5899100 A>G), RS1000070152 (9:5899702 A>G), RS1000116506 (9:5893641 G>C), RS1000121993 (9:5908139 T>G), RS1000162093 (9:5892027 T>C,G), RS1000422927 (9:5909681 T>G), RS1000449400 (9:5897298 G>A), RS1000466113 (9:5893129 C>T), RS1000496978 (9:5893296 G>A), RS1000502879 (9:5895085 C>T), RS1000610266 (9:5889394 G>A,C), RS1000664287 (9:5898305 C>A,T), RS1000737197 (9:5897024 T>C), RS1000774282 (9:5909415 T>C), RS1000969942 (9:5900175 A>G)

Disease associations

OMIM: gene MIM:605513 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001341_1	Multiple sclerosis	3.000000e-08
GCST007013_3	Hippocampal volume in mild cognitive impairment	3.000000e-07
GCST008916_119	Asthma	1.000000e-15
GCST008916_20	Asthma	5.000000e-36
GCST008916_26	Asthma	3.000000e-64
GCST009798_74	Asthma	2.000000e-15

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005035	hippocampal volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression	2
FR900359	affects phosphorylation	1
bisphenol A	decreases methylation	1
fipronil	affects cotreatment, decreases expression	1
clothianidin	increases expression	1
belinostat	decreases expression	1
Vemurafenib	increases expression	1
Benzo(a)pyrene	increases methylation	1
DEET	affects cotreatment, decreases expression	1
Etoposide	affects response to substance	1
Latex	decreases expression	1
Tamoxifen	decreases expression	1
Isotretinoin	decreases expression	1
Aflatoxin B1	increases methylation	1
Sodium Selenite	decreases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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