DMAC1

Summary

DMAC1 (distal membrane arm assembly component 1, HGNC:30536) is a protein-coding gene on chromosome 9p24.1, encoding Distal membrane-arm assembly complex protein 1 (Q96GE9). Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial inner membrane.

Source: NCBI Gene 90871 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 31 total — 1 pathogenic
• GTEx eGene: eQTL in 21 tissues, sQTL in 45 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.84 (unconstrained)
• MANE Select transcript: NM_033428

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30536
Approved symbol	DMAC1
Name	distal membrane arm assembly component 1
Location	9p24.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC4730
Ensembl gene	ENSG00000137038
Ensembl biotype	protein_coding
OMIM	617261
Entrez	90871

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 2 protein_coding_CDS_not_defined

MANE Select: ENST00000358227

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 3: 1, TSL 5: 1

ENST00000358227, ENST00000469050, ENST00000484082, ENST00000880535, ENST00000929251, ENST00001096828, ENST00001096829, ENST00001096830, ENST00001096831, ENST00001138104

RefSeq mRNA: 3 — MANE Select: NM_033428 NM_001318058, NM_001318059, NM_033428

CCDS: CCDS34989

Canonical transcript exons

ENST00000358227 — 2 exons

Exon	Start	End
ENSE00000982130	7796500	7798637
ENSE00001164989	7799461	7799778

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 99.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 65.6826 / max 400.5872, expressed in 1820 samples.

Highest expression (Bgee): ventricle myocardium, cardiac muscle of right atrium, tibialis anterior, myocardium, ileal mucosa.

Genetic regulation across tissues (GTEx eQTL / sQTL)

DMAC1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 21 tissues and its splicing (sQTL) in 45 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 66 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Artery Tibial	sqtl	3.0e-55	+0.88	9:7799606:C:A
Testis	sqtl	8.6e-49	+1.03	9:7799653:G:T
Thyroid	sqtl	2.5e-45	+0.81	9:7799606:C:A
Heart Atrial Appendage	sqtl	1.6e-44	+0.99	9:7799653:G:T
Colon Transverse	sqtl	1.9e-35	+0.90	9:7799653:G:T
Adipose Subcutaneous	sqtl	2.3e-33	+0.69	9:7799606:C:A
Heart Left Ventricle	sqtl	2.9e-33	+0.88	9:7799606:C:A
Nerve Tibial	sqtl	3.5e-31	+0.72	9:7799653:G:T
Muscle Skeletal	sqtl	8.4e-31	+0.64	9:7799606:C:A
Breast Mammary Tissue	sqtl	1.7e-30	+0.81	9:7799606:C:A
Esophagus Muscularis	sqtl	3.0e-30	+0.75	9:7799653:G:T
Cells Cultured fibroblasts	sqtl	3.3e-30	+0.70	9:7799606:C:A
Adipose Visceral Omentum	sqtl	2.0e-29	+0.74	9:7799653:G:T
Pituitary	sqtl	4.0e-23	+0.91	9:7799606:C:A
Artery Aorta	sqtl	6.4e-23	+0.73	9:7799606:C:A
Skin Sun Exposed Lower leg	sqtl	7.7e-22	+0.57	9:7799606:C:A
Colon Sigmoid	sqtl	1.0e-21	+0.78	9:7799606:C:A
Esophagus Gastroesophageal Junction	sqtl	2.1e-21	+0.79	9:7799606:C:A
Brain Nucleus accumbens basal ganglia	sqtl	5.8e-19	+0.87	9:7799606:C:A
Esophagus Mucosa	eqtl	5.1e-18	-0.24	9:7799606:C:A

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
99870	65.6826	1820

Top tissues by expression

showing 100 of 255 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	99.07	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.83	gold quality
tibialis anterior	UBERON:0001385	98.73	gold quality
myocardium	UBERON:0002349	98.72	gold quality
ileal mucosa	UBERON:0000331	98.11	gold quality
heart right ventricle	UBERON:0002080	97.85	gold quality
quadriceps femoris	UBERON:0001377	97.77	gold quality
kidney epithelium	UBERON:0004819	97.72	gold quality
vastus lateralis	UBERON:0001379	97.55	gold quality
deltoid	UBERON:0001476	97.42	gold quality
apex of heart	UBERON:0002098	97.39	gold quality
biceps brachii	UBERON:0001507	97.08	gold quality
cardiac ventricle	UBERON:0002082	96.73	gold quality
heart left ventricle	UBERON:0002084	96.73	gold quality
skeletal muscle tissue	UBERON:0001134	96.65	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	96.54	gold quality
cardiac atrium	UBERON:0002081	96.47	gold quality
right atrium auricular region	UBERON:0006631	96.37	gold quality
pancreatic ductal cell	CL:0002079	96.31	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.31	gold quality
heart	UBERON:0000948	96.26	gold quality
stromal cell of endometrium	CL:0002255	96.25	gold quality
mucosa of transverse colon	UBERON:0004991	96.19	gold quality
muscle tissue	UBERON:0002385	96.11	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.09	gold quality
gastrocnemius	UBERON:0001388	96.04	gold quality
muscle of leg	UBERON:0001383	95.86	gold quality
thymus	UBERON:0002370	95.60	gold quality
body of tongue	UBERON:0011876	95.59	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.06	gold quality
colonic mucosa	UBERON:0000317	94.86	gold quality
upper arm skin	UBERON:0004263	94.86	gold quality
parotid gland	UBERON:0001831	94.60	gold quality
pons	UBERON:0000988	94.44	gold quality
adult mammalian kidney	UBERON:0000082	94.10	gold quality
tongue	UBERON:0001723	94.00	gold quality
vena cava	UBERON:0004087	93.95	gold quality
substantia nigra	UBERON:0002038	93.94	gold quality
pigmented layer of retina	UBERON:0001782	93.93	gold quality
nucleus accumbens	UBERON:0001882	93.90	gold quality
right adrenal gland	UBERON:0001233	93.87	gold quality
putamen	UBERON:0001874	93.81	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.81	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.76	gold quality
anterior cingulate cortex	UBERON:0009835	93.68	gold quality
midbrain	UBERON:0001891	93.67	gold quality
transverse colon	UBERON:0001157	93.64	gold quality
caudate nucleus	UBERON:0001873	93.53	gold quality
kidney	UBERON:0002113	93.53	gold quality
right adrenal gland cortex	UBERON:0035827	93.52	gold quality
colonic epithelium	UBERON:0000397	93.50	gold quality
hypothalamus	UBERON:0001898	93.47	gold quality
spinal cord	UBERON:0002240	93.46	gold quality
left adrenal gland	UBERON:0001234	93.41	gold quality
large intestine	UBERON:0000059	93.33	gold quality
colon	UBERON:0001155	93.29	gold quality
corpus epididymis	UBERON:0004359	93.27	gold quality
nasal cavity epithelium	UBERON:0005384	93.27	gold quality
left adrenal gland cortex	UBERON:0035825	93.23	gold quality
right coronary artery	UBERON:0001625	93.19	gold quality
left coronary artery	UBERON:0001626	93.18	gold quality
right frontal lobe	UBERON:0002810	93.15	gold quality
coronary artery	UBERON:0001621	93.12	gold quality
cortex of kidney	UBERON:0001225	93.09	gold quality
ventricular zone	UBERON:0003053	93.06	gold quality
adrenal cortex	UBERON:0001235	93.01	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.01	gold quality
metanephros	UBERON:0000081	92.99	gold quality
amygdala	UBERON:0001876	92.98	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.94	gold quality
substantia nigra pars compacta	UBERON:0001965	92.84	gold quality
adult organism	UBERON:0007023	92.81	gold quality
bronchial epithelial cell	CL:0002328	92.79	gold quality
saliva-secreting gland	UBERON:0001044	92.77	gold quality
superior surface of tongue	UBERON:0007371	92.75	gold quality
intestine	UBERON:0000160	92.72	gold quality
adenohypophysis	UBERON:0002196	92.68	gold quality
body of stomach	UBERON:0001161	92.67	gold quality
tendon of biceps brachii	UBERON:0008188	92.67	gold quality
bronchus	UBERON:0002185	92.65	gold quality
buccal mucosa cell	CL:0002336	92.63	silver quality
minor salivary gland	UBERON:0001830	92.63	gold quality
inferior vagus X ganglion	UBERON:0005363	92.61	gold quality
adrenal gland	UBERON:0002369	92.53	gold quality
prefrontal cortex	UBERON:0000451	92.47	gold quality
neocortex	UBERON:0001950	92.46	gold quality
forebrain	UBERON:0001890	92.43	gold quality
pituitary gland	UBERON:0000007	92.42	gold quality
mammalian vulva	UBERON:0000997	92.39	gold quality
frontal cortex	UBERON:0001870	92.37	gold quality
lower esophagus	UBERON:0013473	92.36	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.36	gold quality
left lobe of thyroid gland	UBERON:0001120	92.34	gold quality
lateral globus pallidus	UBERON:0002476	92.34	gold quality
adrenal tissue	UBERON:0018303	92.32	gold quality
Brodmann (1909) area 46	UBERON:0006483	92.28	gold quality
mouth mucosa	UBERON:0003729	92.26	gold quality
substantia nigra pars reticulata	UBERON:0001966	92.24	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.24	gold quality
cerebral cortex	UBERON:0000956	92.11	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	41.93
E-ANND-3	yes	8.83
E-MTAB-7303	no	530.82

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Frontal cortex	tissue	60.7
Caudate putamen	tissue	45.2
Skeletal muscle	tissue	40.4	medium
Postcentral gyrus	tissue	35.9
Tongue	tissue	27.8
Nucleus accumbens	tissue	27.1
Hippocampus	tissue	21.6	low
Locus coeruleus	tissue	20.9
Parathyroid gland	tissue	20.5
Heart muscle	tissue	19.7	medium
Thymus	tissue	19.2
Ovary	tissue	17.4	low
Cerebellum	tissue	15.6	low
Salivary gland	tissue	13.5	medium
Pituitary gland	tissue	13.2
Kidney	tissue	12.8	low
Corpus callosum	tissue	12.8
Olfactory bulb	tissue	12.1
Breast	tissue	11.6	low
Choroid plexus	tissue	11.4
Prostate	tissue	11.2	low
Epididymis	tissue	11.1	low
Thyroid gland	tissue	11.1	low
Seminal vesicle	tissue	11.0	medium
Adrenal gland	tissue	10.7	low
Cerebral cortex	tissue	10.5	low
Colon	tissue	10.5	low
Amygdala	tissue	10.5
Retrosplenial and cingulate cortex	tissue	10.5
Retrosplenial cortex	tissue	10.4
Insular cortex	tissue	10.4
Fallopian tube	tissue	10.3	low
Temporal cortex	tissue	10.1
Adipose tissue	tissue	9.9	not detected
Hippocampal formation	tissue	9.8
Entorhinal cortex	tissue	9.8
Ventral forebrain	tissue	9.7
Occipital cortex	tissue	9.6
Spleen	tissue	9.5	not detected
Lymph node	tissue	9.3	low
Prefrontal cortex	tissue	9.3
Rectum	tissue	9.3	low
Putamen	tissue	9.3
Duodenum	tissue	9.3	medium
Motor cortex	tissue	9.2
Liver	tissue	9.2	low
Periaqueductal gray	tissue	9.2
Basal ganglia	tissue	9.1	low
Somatosensory cortex	tissue	9.1
Septum	tissue	8.9
Stomach 1	tissue	8.8	low
Vagina	tissue	8.8	low
Cervix	tissue	8.7	low
Midbrain	tissue	8.7
Medulla oblongata	tissue	8.7
Hypothalamus	tissue	8.5
Substantia nigra	tissue	8.5
Retina	tissue	8.4
Tonsil	tissue	8.3	medium
Endometrium 1	tissue	8.2	low

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Precentral gyrus, ventral (35.9), Precentral gyrus, middle (33.7), Postcentral gyrus, middle (33.3), Precentral gyrus, dorsal (32.5), Frontal eye field (32.1).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting DMAC1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 89 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-3975	99.62	65.97	697

Functional genomics

gnomAD constraint: pLI 1.24e-05, LOEUF 1.84, missense Z -1.65 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000358227 — one region, missense o/e 1.38.

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dmac1	ENSMUSG00000028398
rattus_norvegicus	Dmac1	ENSRNOG00000023946

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
PTPRD-AS1	ncRNA	101929407
PTPRD	protein-coding	5789
PTPRD-DT	ncRNA	101929428

Protein

Protein identifiers

Distal membrane-arm assembly complex protein 1 — Q96GE9 (reviewed: Q96GE9)

Alternative names: Transmembrane protein 261

All UniProt accessions (1): Q96GE9

UniProt curated annotations — full annotation on UniProt →

Function. Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I.

Subunit / interactions. Interacts with incompletely assembled mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).

Subcellular location. Mitochondrion inner membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96GE9-1	1	yes
Q96GE9-2	2

RefSeq proteins (3): NP_001304987, NP_001304988, NP_219500* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028036	DMAC1-like_dom	Domain
IPR053117	DMAC_Protein	Family

Pfam: PF15055

UniProt features (7 total): transmembrane region 2, chain 1, region of interest 1, compositionally biased region 1, splice variant 1, sequence variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96GE9-F1	60.00	0.00

Human Protein Atlas

Protein class: Predicted membrane proteins

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH approved

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

4 pathways:

ID	Pathway	Evidence
R-HSA-6799198	Complex I biogenesis	curated
R-HSA-1428517	Aerobic respiration and respiratory electron transport	—
R-HSA-1430728	Metabolism	—
R-HSA-611105	Respiratory electron transport	—

MSigDB gene sets: 119 (showing top): STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, GOCC_MITOCHONDRIAL_ENVELOPE, OSMAN_BLADDER_CANCER_DN, GOCC_ORGANELLE_INNER_MEMBRANE, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_ORGANELLE_ENVELOPE, MARTENS_TRETINOIN_RESPONSE_DN, GOBP_NADH_DEHYDROGENASE_COMPLEX_ASSEMBLY, REACTOME_COMPLEX_I_BIOGENESIS, GOBP_MITOCHONDRION_ORGANIZATION

GO Biological Process (1): mitochondrial respiratory chain complex I assembly (GO:0032981)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743)

Reactome top-level categories

3 top-level categories:

Category	Pathways
Respiratory electron transport	1
Metabolism	1
Aerobic respiration and respiratory electron transport	1

GO top-level categories

6 GO namespaces:

Category	Terms
NADH dehydrogenase complex assembly	1
mitochondrial respiratory chain complex assembly	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 3 of 3 annotations. The rest are phylogenetic / computational / electronic (IEA).

3 experimentally-supported GO terms:

GO term	NS	Evidence
mitochondrial respiratory chain complex I assembly	BP	mutant phenotype
mitochondrial inner membrane	CC	direct assay
mitochondrion	CC	high-throughput

Protein interactions and networks

STRING

showing 15 of 688 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DMAC1	DMAC2	Q9NW81	584
DMAC1	ARMC7	Q9H6L4	484
DMAC1	KLHDC4	Q8TBB5	477
DMAC1	TMEM186	Q96B77	470
DMAC1	RIC1	Q4ADV7	441
DMAC1	COA1	Q9GZY4	420
DMAC1	PLGRKT	Q9HBL7	410
DMAC1	TIMMDC1	Q9NPL8	400
DMAC1	TMEM126B	Q8IUX1	399
DMAC1	NDUFAF8	A1L188	390
DMAC1	SPATA6L	Q8N4H0	389
DMAC1	FLAD1	Q8NFF5	388
DMAC1	PDSS2	Q86YH6	385
DMAC1	MALSU1	Q96EH3	384
DMAC1	COX16	Q9P0S2	383

Disease & clinical

Genetic variants

Variant evidence for DMAC1: 31 ClinVar records (1 pathogenic / likely pathogenic); 12 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	26
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
1711163	GRCh37/hg19 9p24.1-23(chr9:6825346-10816593)x1	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore DMAC1’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 20 predictions of 277):

Position(s)	Effect	Δscore	Sites
9:7799471	donor_gain	0.9300
9:7798638–7798639	acceptor_loss	0.9200	6
9:7799430	donor_gain	0.9200
9:7799577	donor_gain	0.9200
9:7799459–7799460	donor_loss	0.9000	6
9:7799429	donor_gain	0.8800
9:7799456	donor_loss	0.8800
9:7799588	donor_gain	0.8800
9:7798316	donor_gain	0.8700
9:7799568	donor_gain	0.8600

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

5 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	5.84e-07
Kidney Renal Papillary Cell Carcinoma (TCGA)	favorable	8.14e-07
Uterine Corpus Endometrial Carcinoma (TCGA)	favorable	0.000366
Pancreatic Adenocarcinoma (TCGA)	favorable	0.00073
Kidney Renal Clear Cell Carcinoma (validation)	favorable	0.000933

Disease associations

OMIM: gene MIM:617261 | disease phenotypes:

GWAS associations

12 associations:

Study	Trait	p-value
GCST012020_267	Serum metabolite levels	1e-10
GCST012021_92	Serum metabolite levels	1e-10
GCST007096_211	Pulse pressure	6e-9
GCST007099_145	Systolic blood pressure	7e-9
GCST011703_92	Smoking initiation	3e-8
GCST012145_19	Ferritin levels	1e-7
GCST012145_7	Ferritin levels	8e-7
GCST003479_5	Hair color	2e-6
GCST007159_7	Corneal astigmatism	5e-6
GCST003434_8	Obsessive-compulsive symptoms	6e-6
GCST009391_1980	Metabolite levels	8e-6
GCST011743_74	HDL cholesterol levels in HIV infection	8e-6

EFO canonical traits (from GWAS)

8 canonical traits:

EFO ID	Trait name
EFO:0007802	obsessive-compulsive symptom measurement
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:1002040	Corneal astigmatism
EFO:0010372	phosphatidylcholine 32:0 measurement
EFO:0005670	smoking initiation
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004459	ferritin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, decreases expression, increases expression	3
methylparaben	decreases expression	2
Valproic Acid	affects expression, increases expression	2
methylmercuric chloride	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
K 7174	decreases expression	1
jinfukang	increases expression	1
Venlafaxine Hydrochloride	increases expression	1
Resveratrol	affects cotreatment, decreases expression, increases expression	1
Sunitinib	decreases expression	1
Cadmium	increases abundance, increases expression	1
Carbamazepine	affects expression	1
Doxorubicin	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Phthalic Acids	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression, increases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Cyclosporine	decreases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.