COX7A2L

Summary

COX7A2L (cytochrome c oxidase subunit 7A2 like, HGNC:2289) is a protein-coding gene on chromosome 2p21, encoding Cytochrome c oxidase subunit 7A2-like, mitochondrial (O14548). Assembly factor that mediates the formation of some mitochondrial respiratory supercomplexes (respirasomes), thereby promoting oxidative phosphorylation and energy metabolism. It is a selective cancer dependency (DepMap: 12.5% of cell lines).

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene.

Source: NCBI Gene 9167 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 23 total
• Cancer dependency (DepMap): dependent in 12.5% of screened cell lines
• MANE Select transcript: NM_004718

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2289
Approved symbol	COX7A2L
Name	cytochrome c oxidase subunit 7A2 like
Location	2p21
Locus type	gene with protein product
Status	Approved
Aliases	EB1, COX7RP, COX7AR, SIG81, SCAF1, SCAFI
Ensembl gene	ENSG00000115944
Ensembl biotype	protein_coding
OMIM	605771
Entrez	9167

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000234301, ENST00000378669, ENST00000423797, ENST00000463055, ENST00000464443, ENST00000468711, ENST00000482463, ENST00000607768, ENST00000886112, ENST00000935178, ENST00000935179, ENST00000935180

RefSeq mRNA: 4 — MANE Select: NM_004718 NM_001319036, NM_001319038, NM_001319040, NM_004718

CCDS: CCDS1808

Canonical transcript exons

ENST00000234301 — 3 exons

Exon	Start	End
ENSE00001478320	42361090	42361217
ENSE00003558072	42353212	42353343
ENSE00003892772	42349338	42351359

Expression profiles

Bgee: expression breadth ubiquitous, 301 present calls, max score 98.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 76.7211 / max 487.5155, expressed in 1820 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
28015	59.2103	1819
28014	17.5108	1806

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	98.83	gold quality
right adrenal gland cortex	UBERON:0035827	98.78	gold quality
right adrenal gland	UBERON:0001233	98.64	gold quality
calcaneal tendon	UBERON:0003701	98.61	gold quality
left adrenal gland	UBERON:0001234	98.50	gold quality
left adrenal gland cortex	UBERON:0035825	98.44	gold quality
adrenal cortex	UBERON:0001235	98.38	gold quality
adrenal tissue	UBERON:0018303	98.32	gold quality
adrenal gland	UBERON:0002369	98.21	gold quality
cortical plate	UBERON:0005343	98.04	gold quality
islet of Langerhans	UBERON:0000006	97.85	gold quality
middle temporal gyrus	UBERON:0002771	97.85	gold quality
amniotic fluid	UBERON:0000173	97.78	gold quality
secondary oocyte	CL:0000655	97.69	gold quality
type B pancreatic cell	CL:0000169	97.65	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.61	gold quality
nucleus accumbens	UBERON:0001882	97.46	gold quality
endometrium epithelium	UBERON:0004811	97.46	gold quality
ovary	UBERON:0000992	97.45	gold quality
left ovary	UBERON:0002119	97.42	gold quality
ganglionic eminence	UBERON:0004023	97.38	gold quality
nephron tubule	UBERON:0001231	97.33	gold quality
prefrontal cortex	UBERON:0000451	97.27	gold quality
bone marrow	UBERON:0002371	97.09	gold quality
germinal epithelium of ovary	UBERON:0001304	97.07	gold quality
pituitary gland	UBERON:0000007	97.04	gold quality
adult organism	UBERON:0007023	97.04	gold quality
middle frontal gyrus	UBERON:0002702	96.99	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.95	gold quality
adenohypophysis	UBERON:0002196	96.93	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	8.49
E-MTAB-7316	yes	8.31
E-CURD-122	yes	4.62
E-HCAD-5	no	14.54
E-GEOD-83139	no	3.71
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC, TP53

miRNA regulators (miRDB)

43 targeting COX7A2L, 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-548AW	99.99	72.57	3559
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-466	99.67	70.85	2863

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 12.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 7a (PMID:20307258)
• COX7A2L is a mitochondrial complex III binding protein that stabilizes the III2+iv supercomplex without affecting respirasome formation. (PMID:27545886)
• COX7AR is a stress-inducible mitochondrial COX subunit that facilitates human breast cancer malignancy (PMID:27550821)
• COX7A2L establishes a regulatory checkpoint for the biogenesis of Complex III and specific supercomplexes. (PMID:30428348)
• COX7A2L genetic variants determine cardiorespiratory fitness in mice and human. (PMID:36253618)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cox7a2l	ENSDARG00000054907
mus_musculus	Cox7a2l	ENSMUSG00000024248
rattus_norvegicus	Cox7a2l	ENSRNOG00000004526
drosophila_melanogaster	COX7AL	FBGN0037579
drosophila_melanogaster	COX7AL2	FBGN0085201

Paralogs (2): COX7A2 (ENSG00000112695), COX7A1 (ENSG00000161281)

Protein

Protein identifiers

Cytochrome c oxidase subunit 7A2-like, mitochondrial — O14548 (reviewed: O14548)

Alternative names: Cytochrome c oxidase subunit 7A-related protein, Cytochrome c oxidase subunit VIIa-related protein, EB1, Supercomplex assembly factor 1

All UniProt accessions (5): O14548, E5RFH8, E5RJZ1, H0YBD2, Q6FGA0

UniProt curated annotations — full annotation on UniProt →

Function. Assembly factor that mediates the formation of some mitochondrial respiratory supercomplexes (respirasomes), thereby promoting oxidative phosphorylation and energy metabolism. Acts as a molecular adapter that associates with both mitochondrial respiratory complexes III (CIII) and IV (CIV), promoting their association. Mediates the formation of various mitochondrial respiratory supercomplexes, such as MCIII(2)IV(2), composed of two CIII and two CIV, and the CS-respirasome (MCI(1)III(2)IV(2)), composed of one CI, two CIII and two CIV. Not involved in the formation of the canonical respirasome (MCI(1)III(2)IV(1)), composed of one CI, two CIII and one CIV. The formation of different respirasomes is important for cell adaptation to oxygen conditions and prevent metabolic exhaustion: supercomplexes mediated by COX7A2L/SCAF1 are required to maintain oxidative phosphorylation upon low oxygen conditions and promote metabolic rewiring toward glycolysis.

Subunit / interactions. Interacts with the mitochondrial respiratory complexes III (CIII) and IV (CIV), promoting their association.

Subcellular location. Mitochondrion inner membrane.

Induction. By estrogen. Expression is induced by ATF4 downstream of the EIF2AK3/PERK-mediated unfolded protein response, thereby increasing formation of respiratory chain supercomplexes.

Polymorphism. Genetic variations affect COX7A2L expression in human population. The rs10183278 variant leads to increased COX7A2L expression in the muscle and is associated with lower body fat and improved cardiorespiratory fitness. Myotubes harboring this insertion display more mitochondrial respiratory supercomplexes and increased respiration. The genetic variant rs10183278 is characterized by an insertion in the 3’ untranslated region of COX7A2L transcripts, which specifically promotes mRNA stability and expression.

Similarity. Belongs to the cytochrome c oxidase VIIa family.

RefSeq proteins (4): NP_001305965, NP_001305967, NP_001305969, NP_004709* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003177	Cytc_oxidase_su7a_met	Family
IPR017267	Cyt_c_oxidase_su7a-rel_mt	Family
IPR036539	Cyt_c_oxidase_su7a_sf	Homologous_superfamily
IPR039297	COX7a	Family

Pfam: PF02238

UniProt features (6 total): transit peptide 1, chain 1, transmembrane region 1, modified residue 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14548-F1	79.89	0.46

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): 69

Mutagenesis-validated functional residues (1):

Position	Phenotype
74–75	abolished ability to promote association between both mitochondrial respiratory complexes iii (ciii) and iv (civ).

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-5628897	TP53 Regulates Metabolic Genes
R-HSA-611105	Respiratory electron transport
R-HSA-9707564	Cytoprotection by HMOX1
R-HSA-9864848	Complex IV assembly

MSigDB gene sets: 259 (showing top): MORF_MBD4, TGCGCANK_UNKNOWN, MORF_RAB5A, LFA1_Q6, MORF_UBE2I, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, MORF_RAD21, MORF_PSMC2, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, MORF_SKP1A, MORF_RAF1, GOBP_OXIDATIVE_PHOSPHORYLATION, GOBP_ELECTRON_TRANSPORT_CHAIN, TCCCCAC_MIR491

GO Biological Process (3): mitochondrial electron transport, cytochrome c to oxygen (GO:0006123), mitochondrial respirasome assembly (GO:0097250), proton transmembrane transport (GO:1902600)

GO Molecular Function (2): cytochrome-c oxidase activity (GO:0004129), protein-macromolecule adaptor activity (GO:0030674)

GO Cellular Component (6): nucleolus (GO:0005730), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial membrane (GO:0031966), respiratory chain complex IV (GO:0045277), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Transcriptional Regulation by TP53	1
Aerobic respiration and respiratory electron transport	1
Cellular response to chemical stress	1
Respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
aerobic electron transport chain	1
mitochondrial ATP synthesis coupled electron transport	1
mitochondrion organization	1
mitochondrial respiratory chain complex assembly	1
monoatomic cation transmembrane transport	1
electron transfer activity	1
proton transmembrane transporter activity	1
oxidoreduction-driven active transmembrane transporter activity	1
oxidoreductase activity, acting on a heme group of donors	1
active monoatomic ion transmembrane transporter activity	1
protein binding	1
molecular adaptor activity	1
nuclear lumen	1
intracellular membraneless organelle	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1
cytochrome complex	1
respiratory chain complex	1
transmembrane transporter complex	1
oxidoreductase complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

998 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COX7A2L	EBAG9	O00559	948
COX7A2L	GRIN2D	O15399	839
COX7A2L	COX6A1	P12074	727
COX7A2L	LRPPRC	P42704	715
COX7A2L	HIGD2A	Q9BW72	681
COX7A2L	HIGD1A	Q9Y241	661
COX7A2L	COXFA4	O00483	591
COX7A2L	COX7B	P24311	558
COX7A2L	COX6A2	Q02221	512
COX7A2L	COX5B	P10606	507
COX7A2L	SCAF1	Q9H7N4	506
COX7A2L	COX5A	P20674	480
COX7A2L	COX6B1	P14854	477
COX7A2L	COX6C	P09669	453
COX7A2L	UQCRFS1	P47985	452

IntAct

52 interactions, top by confidence:

A	B	Type	Score
UQCRQ	COX7A2L	psi-mi:“MI:0914”(association)	0.640
UQCRB	COX7A2L	psi-mi:“MI:0914”(association)	0.640
ADCY9	NEMP1	psi-mi:“MI:0914”(association)	0.640
UQCRH	COX7A2L	psi-mi:“MI:0914”(association)	0.640
NDUFS5	NDUFS8	psi-mi:“MI:0914”(association)	0.530
TIMMDC1	NDUFS8	psi-mi:“MI:0914”(association)	0.530
UQCRH	DCTN6	psi-mi:“MI:0914”(association)	0.530
COX5A	COX7A2L	psi-mi:“MI:0914”(association)	0.530
COX5B	COX7A2L	psi-mi:“MI:0914”(association)	0.530
MAGEA11	COX7A2L	psi-mi:“MI:0915”(physical association)	0.370
NDUFS4	NDUFS8	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
K8.1	EXOC5	psi-mi:“MI:0914”(association)	0.350
NMES1	NDUFS8	psi-mi:“MI:0914”(association)	0.350
COX6B1	COX7A2L	psi-mi:“MI:0914”(association)	0.350
NDUFA4	NUDT19	psi-mi:“MI:0914”(association)	0.350
NDUFA4	NDUFS8	psi-mi:“MI:0914”(association)	0.350
NMES1	COX7A2L	psi-mi:“MI:0914”(association)	0.350
NDUFA4	COX7A2L	psi-mi:“MI:0914”(association)	0.350
ITM2B	ILVBL	psi-mi:“MI:0914”(association)	0.350
UQCRH	SSC5D	psi-mi:“MI:0914”(association)	0.350
UQCRFS1	VWA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (102): COX7A2L (Two-hybrid), COX7A2L (Affinity Capture-MS), COX7A2L (Affinity Capture-MS), COX7A2L (Affinity Capture-MS), COX7A2L (Affinity Capture-MS), COX7A2L (Affinity Capture-MS), COX7A2L (Affinity Capture-MS), COX7A2L (Affinity Capture-MS), COX7A2L (Affinity Capture-MS), COX7A2L (Affinity Capture-MS), COX7A2L (Affinity Capture-MS), COX7A2L (Affinity Capture-MS), COX7A2L (Affinity Capture-RNA), COX7A2L (Affinity Capture-MS), ACOT9 (Co-fractionation)

ESM2 similar proteins: A1XQS2, D3Z9R8, E2R4X3, E9PQ53, O14548, O60397, O82067, P14790, P34660, P46269, P46270, P56378, P56379, Q02827, Q1RMH3, Q29259, Q2KI08, Q3SZ13, Q3T061, Q3ZBI7, Q4V8S3, Q56JY4, Q5R987, Q5RDZ8, Q5XFV8, Q5ZML6, Q61387, Q63ZZ0, Q69YU5, Q78IK2, Q7SXI1, Q8BH51, Q8BTC1, Q8C1Q6, Q8N0X7, Q96B49, Q96I36, Q96IX5, Q96KF7, Q99KD6

Diamond homologs: O14548, O60397, P07470, P13184, P14406, P24310, P35171, P48771, P56392, Q08CE7, Q3T061, Q53CF6, Q61387, Q7SXI1, Q8SPJ9, Q99KD6, Q9N234, Q9TR29, Q9VHS2, Q9TR28, Q9TR30, Q9TRZ8, P80333

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MAP3K5	“up-regulates activity”	COX7A2L	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 49 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Complex III assembly	7	93.2×	3e-11
Respiratory electron transport	17	49.0×	7e-24
Complex IV assembly	7	48.5×	3e-09
Cytoprotection by HMOX1	7	39.1×	9e-09
TP53 Regulates Metabolic Genes	7	27.5×	9e-08
Complex I biogenesis	5	25.1×	2e-05
Mitochondrial protein degradation	5	17.3×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial electron transport, cytochrome c to oxygen	8	145.9×	2e-14
cellular respiration	12	123.5×	7e-21
aerobic respiration	6	35.4×	7e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2217 predictions. Top by Δscore:

Variant	Effect	Δscore
19:49642238:GCGGG:G	donor_gain	1.0000
19:49642240:GGG:G	donor_gain	1.0000
19:49642241:GGG:G	donor_gain	1.0000
19:49645352:A:AG	acceptor_gain	1.0000
19:49645352:AGC:A	acceptor_gain	1.0000
19:49645353:G:GA	acceptor_gain	1.0000
19:49645353:GC:G	acceptor_gain	1.0000
19:49645353:GCG:G	acceptor_gain	1.0000
19:49645353:GCGA:G	acceptor_gain	1.0000
19:49646055:A:G	acceptor_gain	1.0000
19:49646203:G:GG	donor_gain	1.0000
19:49646205:GA:G	donor_gain	1.0000
19:49646207:G:GG	donor_gain	1.0000
19:49646627:G:GG	donor_gain	1.0000
19:49646714:GAAGT:G	acceptor_gain	1.0000
19:49646829:GG:G	donor_gain	1.0000
19:49646830:GG:G	donor_gain	1.0000
19:49653701:GGCCT:G	donor_gain	1.0000
19:49653702:GCCTG:G	donor_gain	1.0000
19:49654337:T:A	acceptor_gain	1.0000
19:49654344:TGCA:T	acceptor_loss	1.0000
19:49654345:GCA:G	acceptor_loss	1.0000
19:49654347:A:AG	acceptor_gain	1.0000
19:49654347:A:G	acceptor_loss	1.0000
19:49654347:AGT:A	acceptor_gain	1.0000
19:49654348:G:GT	acceptor_gain	1.0000
19:49654348:GT:G	acceptor_gain	1.0000
19:49654348:GTG:G	acceptor_gain	1.0000
19:49654428:CCAGG:C	donor_loss	1.0000
19:49654429:CAG:C	donor_loss	1.0000

AlphaMissense

724 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:42351263:A:G	C101R	0.994
2:42351278:C:G	G96R	0.991
2:42351278:C:T	G96R	0.991
2:42351275:C:G	G97R	0.987
2:42351275:C:T	G97R	0.987
2:42351277:C:T	G96E	0.987
2:42351274:C:T	G97E	0.985
2:42351286:A:C	L93R	0.983
2:42351286:A:G	L93P	0.983
2:42351259:A:G	L102P	0.981
2:42351261:G:C	C101W	0.979
2:42351286:A:T	L93Q	0.979
2:42351275:C:A	G97W	0.978
2:42351305:A:C	Y87D	0.978
2:42351330:T:A	K78N	0.978
2:42351330:T:G	K78N	0.978
2:42351301:C:G	R88P	0.975
2:42351266:A:C	Y100D	0.974
2:42351250:A:G	L105P	0.973
2:42351242:C:G	A108P	0.972
2:42351259:A:C	L102R	0.972
2:42353215:G:C	F67L	0.972
2:42353215:G:T	F67L	0.972
2:42353217:A:G	F67L	0.972
2:42351289:G:T	A92E	0.971
2:42353224:T:A	Q64H	0.971
2:42353224:T:G	Q64H	0.971
2:42351253:G:T	A104D	0.969
2:42351262:C:T	C101Y	0.968
2:42351316:T:A	D83V	0.965

dbSNP variants (sampled 300 via entrez): RS1000016509 (2:42348261 A>G), RS1000147526 (2:42343292 C>T), RS1000197278 (2:42348352 G>C), RS1000246684 (2:42338380 CTAG>C), RS1000292515 (2:42359796 A>C), RS1000354103 (2:42342913 T>G), RS1000400478 (2:42369774 T>C), RS1000445882 (2:42369639 C>A), RS1000485452 (2:42344407 T>C), RS1000549651 (2:42346739 G>A), RS1000601193 (2:42344621 G>A), RS1000671157 (2:42341601 T>TG), RS1000702258 (2:42341421 G>A), RS1000905566 (2:42364881 C>A), RS1000960245 (2:42358425 G>C)

Disease associations

OMIM: gene MIM:605771 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003390_8	Thrombosis	2.000000e-07
GCST008159_51	Waist-to-hip ratio adjusted for BMI	3.000000e-06
GCST010242_261	HDL cholesterol levels	1.000000e-09
GCST90000025_810	Appendicular lean mass	5.000000e-22
GCST90020028_27	Hip circumference adjusted for BMI	2.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0003907	deep vein thrombosis
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004980	appendicular lean mass
EFO:0008039	BMI-adjusted hip circumference

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
Acetaminophen	affects cotreatment, decreases expression, increases expression	2
Genistein	decreases expression, increases reaction, increases expression	2
dicrotophos	decreases expression	1
daidzein	increases expression	1
bisphenol A	increases expression	1
O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate	affects expression, affects response to substance	1
arsenite	increases reaction, affects binding	1
sodium arsenite	increases expression	1
ochratoxin A	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CD 437	decreases expression	1
chloropicrin	affects expression	1
perfluorohexanesulfonic acid	increases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
ICG 001	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Doxorubicin	increases expression	1
Drugs, Chinese Herbal	increases expression	1
Estradiol	increases expression	1
Ivermectin	increases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Smoke	decreases expression	1
Testosterone	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Thiram	increases expression	1
Zinc	decreases expression	1
Cyclosporine	increases expression	1
Asbestos, Crocidolite	increases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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