FAR2

Summary

FAR2 (fatty acyl-CoA reductase 2, HGNC:25531) is a protein-coding gene on chromosome 12p11.22, encoding Fatty acyl-CoA reductase 2 (Q96K12). Catalyzes the reduction of saturated but not unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (FAls).

This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22.

Source: NCBI Gene 55711 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 77 total
• MANE Select transcript: NM_001271783

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25531
Approved symbol	FAR2
Name	fatty acyl-CoA reductase 2
Location	12p11.22
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10462, SDR10E2
Ensembl gene	ENSG00000064763
Ensembl biotype	protein_coding
OMIM	616156
Entrez	55711

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 15 protein_coding, 8 retained_intron, 5 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined

ENST00000182377, ENST00000536681, ENST00000547116, ENST00000547411, ENST00000547759, ENST00000549080, ENST00000550541, ENST00000551193, ENST00000551451, ENST00000552137, ENST00000685369, ENST00000686305, ENST00000686316, ENST00000686419, ENST00000686444, ENST00000686974, ENST00000689380, ENST00000689798, ENST00000690002, ENST00000690162, ENST00000691273, ENST00000691325, ENST00000691861, ENST00000692223, ENST00000693163, ENST00000910346, ENST00000910347, ENST00000910348, ENST00000910349, ENST00000936178, ENST00000946760, ENST00000946761

RefSeq mRNA: 3 — MANE Select: NM_001271783 NM_001271783, NM_001271784, NM_018099

CCDS: CCDS61084, CCDS8717

Canonical transcript exons

ENST00000536681 — 12 exons

Exon	Start	End
ENSE00000734088	29311028	29311146
ENSE00000734091	29311883	29311950
ENSE00000734094	29316841	29317012
ENSE00001188621	29332600	29332727
ENSE00001188625	29321795	29321924
ENSE00001188636	29309186	29309230
ENSE00002401258	29149278	29149407
ENSE00003530016	29270412	29270638
ENSE00003590790	29297021	29297200
ENSE00003628511	29307658	29307835
ENSE00003646822	29293300	29293475
ENSE00003707569	29333632	29335616

Expression profiles

Bgee: expression breadth ubiquitous, 228 present calls, max score 96.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.9425 / max 212.4907, expressed in 1416 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
124887	3.0285	914
124886	2.8600	965
124884	2.3582	1060
124891	0.7262	77
124885	0.3073	166
124888	0.2502	144
124894	0.1240	30
124883	0.1110	31
124893	0.0751	26
124895	0.0602	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper leg skin	UBERON:0004262	96.11	gold quality
mucosa of transverse colon	UBERON:0004991	92.84	gold quality
bone marrow cell	CL:0002092	91.94	gold quality
colonic mucosa	UBERON:0000317	91.76	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.57	gold quality
rectum	UBERON:0001052	91.21	gold quality
bone marrow	UBERON:0002371	90.65	gold quality
mammalian vulva	UBERON:0000997	89.98	gold quality
cortical plate	UBERON:0005343	88.99	gold quality
calcaneal tendon	UBERON:0003701	88.74	gold quality
prefrontal cortex	UBERON:0000451	88.51	gold quality
trabecular bone tissue	UBERON:0002483	88.06	gold quality
colonic epithelium	UBERON:0000397	87.76	gold quality
endothelial cell	CL:0000115	87.67	gold quality
monocyte	CL:0000576	87.56	gold quality
mononuclear cell	CL:0000842	87.46	gold quality
ileal mucosa	UBERON:0000331	87.43	gold quality
transverse colon	UBERON:0001157	87.41	gold quality
leukocyte	CL:0000738	87.24	gold quality
stromal cell of endometrium	CL:0002255	87.24	gold quality
blood	UBERON:0000178	86.58	gold quality
upper arm skin	UBERON:0004263	85.95	gold quality
secondary oocyte	CL:0000655	85.65	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	85.59	gold quality
large intestine	UBERON:0000059	85.49	gold quality
colon	UBERON:0001155	85.34	gold quality
placenta	UBERON:0001987	85.00	gold quality
anterior cingulate cortex	UBERON:0009835	84.96	gold quality
cingulate cortex	UBERON:0003027	84.92	gold quality
Brodmann (1909) area 9	UBERON:0013540	84.88	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9801	yes	6.95
E-ANND-3	yes	4.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

102 targeting FAR2, 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-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3658	99.96	73.87	4379
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-1305	99.91	71.43	3443
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-182-5P	99.87	74.03	2589
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-579-3P	99.86	71.66	3628
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220

Literature-anchored findings (GeneRIF, showing 3)

• fatty alcohol synthesis in mammals is accomplished by two fatty acyl-CoA reductase isozymes that are expressed at high levels in tissues known to synthesize wax monoesters and ether lipids (PMID:15220348)
• wax monoester synthesis in mammals involves a two step biosynthetic pathway catalyzed by fatty acyl-CoA reductase and wax synthase enzymes (PMID:15220349)
• Results indicate fatty acyl CoA reductase 2 FAR2’s role in the development of mesangial matrix expansion and chronic kidney disease. (PMID:29652635)

Cross-species orthologs

20 orthologs

Organism	Symbol	Gene ID
mus_musculus	Far2	ENSMUSG00000030303
rattus_norvegicus	Far2	ENSRNOG00000001851
drosophila_melanogaster	FarO	FBGN0023550
drosophila_melanogaster	CG4020	FBGN0029821
drosophila_melanogaster	Sgp	FBGN0032055
drosophila_melanogaster	CG1441	FBGN0033464
drosophila_melanogaster	CG8306	FBGN0034142
drosophila_melanogaster	CG8303	FBGN0034143
drosophila_melanogaster	CG5065	FBGN0034145
drosophila_melanogaster	CG10096	FBGN0038032
drosophila_melanogaster	CG10097	FBGN0038033
drosophila_melanogaster	CG17562	FBGN0038449
drosophila_melanogaster	CG17560	FBGN0038450
drosophila_melanogaster	CG14893	FBGN0038451
drosophila_melanogaster	CG4770	FBGN0038751
drosophila_melanogaster	CG12268	FBGN0039131
drosophila_melanogaster	wat	FBGN0039620
drosophila_melanogaster	CG30427	FBGN0043792
drosophila_melanogaster	CG34342	FBGN0085371
caenorhabditis_elegans		WBGENE00022200

Paralogs (1): FAR1 (ENSG00000197601)

Protein

Protein identifiers

Fatty acyl-CoA reductase 2 — Q96K12 (reviewed: Q96K12)

Alternative names: Male sterility domain-containing protein 1

All UniProt accessions (11): Q96K12, A0A024RAW7, A0A8I5KQJ4, A0A8I5KS86, A0A8I5KUM2, A0A8I5KVC4, A0A8I5KXF4, F8VPF2, F8VX60, H0YHP1, H0YIE0

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the reduction of saturated but not unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (FAls). A lower activity can be observed with shorter fatty acyl-CoA substrates. Can produce very long-chain and ultra long-chain FAls, regardless of whether they have a straight or branched chain. Involved in the production of ether lipids/plasmalogens and wax monoesters whose synthesis requires FAls as substrates.

Subcellular location. Peroxisome membrane.

Similarity. Belongs to the fatty acyl-CoA reductase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96K12-1	1	yes
Q96K12-2	2

RefSeq proteins (3): NP_001258712, NP_001258713, NP_060569 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013120	FAR_NAD-bd	Domain
IPR026055	FAR	Family
IPR033640	FAR_C	Domain
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily

Pfam: PF03015, PF07993

Catalyzed reactions (Rhea), 12 shown:

• hexadecanoyl-CoA + 2 NADPH + 2 H(+) = hexadecan-1-ol + 2 NADP(+) + CoA (RHEA:36315)
• octadecanoyl-CoA + 2 NADPH + 2 H(+) = octadecan-1-ol + 2 NADP(+) + CoA (RHEA:36319)
• a long-chain fatty acyl-CoA + 2 NADPH + 2 H(+) = a long-chain primary fatty alcohol + 2 NADP(+) + CoA (RHEA:52716)
• eicosanoyl-CoA + 2 NADPH + 2 H(+) = eicosan-1-ol + 2 NADP(+) + CoA (RHEA:81727)
• docosanoyl-CoA + 2 NADPH + 2 H(+) = docosan-1-ol + 2 NADP(+) + CoA (RHEA:81731)
• tetracosanoyl-CoA + 2 NADPH + 2 H(+) = tetracosan-1-ol + 2 NADP(+) + CoA (RHEA:81735)
• hexacosanoyl-CoA + 2 NADPH + 2 H(+) = hexacosan-1-ol + 2 NADP(+) + CoA (RHEA:81739)
• octacosanoyl-CoA + 2 NADPH + 2 H(+) = octacosan-1-ol + 2 NADP(+) + CoA (RHEA:81743)
• triacontanoyl-CoA + 2 NADPH + 2 H(+) = triacontan-1-ol + 2 NADP(+) + CoA (RHEA:81747)
• a very long-chain fatty acyl-CoA + 2 NADPH + 2 H(+) = a very long-chain primary fatty alcohol + 2 NADP(+) + CoA (RHEA:81751)
• an ultra-long-chain fatty acyl-CoA + 2 NADPH + 2 H(+) = an ultra long-chain primary fatty alcohol + 2 NADP(+) + CoA (RHEA:81755)
• 18-methylnonadecanoyl-CoA + 2 NADPH + 2 H(+) = 18-methylnonadecan-1-ol + 2 NADP(+) + CoA (RHEA:81767)

UniProt features (7 total): topological domain 2, sequence conflict 2, chain 1, transmembrane region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96K12-F1	94.15	0.86

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9640463	Wax biosynthesis

MSigDB gene sets: 149 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, MODULE_255, ATACCTC_MIR202, GOZGIT_ESR1_TARGETS_DN, MODULE_317, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, NKX61_01, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, chr12p11, GOBP_FATTY_ACYL_COA_METABOLIC_PROCESS, ONKEN_UVEAL_MELANOMA_UP, GOBP_AMIDE_METABOLIC_PROCESS, RIGGI_EWING_SARCOMA_PROGENITOR_DN, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS

GO Biological Process (4): wax biosynthetic process (GO:0010025), long-chain fatty-acyl-CoA metabolic process (GO:0035336), lipid metabolic process (GO:0006629), fatty acid derivative metabolic process (GO:1901568)

GO Molecular Function (4): oxidoreductase activity (GO:0016491), alcohol-forming very long-chain fatty acyl-CoA reductase activity (GO:0080019), alcohol-forming long-chain fatty acyl-CoA reductase activity (GO:0102965), oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)

GO Cellular Component (3): peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Wax and plasmalogen biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	2
wax metabolic process	1
fatty acid derivative biosynthetic process	1
fatty-acyl-CoA metabolic process	1
primary metabolic process	1
lipid metabolic process	1
catalytic activity	1
oxidoreductase activity, acting on the aldehyde or oxo group of donors	1
microbody	1
peroxisome	1
microbody membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1080 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAR2	AGPS	O00116	710
FAR2	GNPAT	O15228	691
FAR2	HACL1	Q9UJ83	486
FAR2	ECI2	O75521	480
FAR2	PEX7	O00628	479
FAR2	AWAT1	Q58HT5	471
FAR2	SOAT1	P35610	467
FAR2	AWAT2	Q6E213	458
FAR2	ELOVL4	Q9GZR5	431
FAR2	PLD5	Q8N7P1	418
FAR2	ACTR3	P32391	394
FAR2	NPSR1	Q6W5P4	390
FAR2	ELOVL3	Q9HB03	381
FAR2	DHRS1	Q96LJ7	379
FAR2	DGAT2L6	Q6ZPD8	377

IntAct

69 interactions, top by confidence:

A	B	Type	Score
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
	UBXN8	psi-mi:“MI:0914”(association)	0.530
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
PCDHGB1	FAM171A2	psi-mi:“MI:0914”(association)	0.530
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.530
PEX19	MYO1D	psi-mi:“MI:0914”(association)	0.530
GPC1	SNAP23	psi-mi:“MI:0915”(physical association)	0.400
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400
CHRNA3	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.350
SLC39A12	POM121C	psi-mi:“MI:0914”(association)	0.350
PCDHGB1	FAM171A2	psi-mi:“MI:0914”(association)	0.350
ATP2B2	GPR89A	psi-mi:“MI:0914”(association)	0.350
GRPR	GPR89A	psi-mi:“MI:0914”(association)	0.350
VNN2	ATP2A1	psi-mi:“MI:0914”(association)	0.350
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
	AGPS	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
KCNA2	TMEM129	psi-mi:“MI:0914”(association)	0.350
ATP2B2	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (74): FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U5GGX2, A0A7H0DNE2, A1ZAI3, A1ZAI5, D7PI19, F1QLP1, F4JJR8, G4Z2L3, G7JEE5, O16881, O17907, O57245, O74913, O74959, O94361, P21097, P26670, P37059, P41888, P50521, P56523, Q06490, Q07085, Q08651, Q0KHU5, Q0P5J1, Q10130, Q18610, Q20701, Q20800, Q43793, Q4VT38, Q4VT39, Q66H50, Q67477, Q75BY0, Q7JQ32, Q7TNT2, Q8IG39, Q8MP06

Diamond homologs: A0A1U8QWA2, A0A2I1CSH4, A1ZAI3, A1ZAI5, B0G0Z9, B8NTZ9, D4AU31, E9F8M3, P07702, P37693, Q0P5J1, Q54TW0, Q5R834, Q5ZM72, Q66H50, Q7TNT2, Q7ZXF5, Q86AE3, Q8MS59, Q8WVX9, Q922J9, Q960W6, Q96K12, A0A481WNP4, A0A7T8F1L4, Q54T36, Q558Y6, Q58461, A8EZA9, A8F1A5, A8GN21, A8GRN9, A8GWP0, D4GU72, M1W848, O06485, O25511, O35048, O35469, O46516

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 80 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
Metal ion SLC transporters	7	75.1×	6e-10
R-HSA-425366	6	19.4×	3e-05
SLC-mediated transmembrane transport	9	9.5×	2e-05
Transport of small molecules	15	6.7×	2e-07

GO biological processes:

GO term	Partners	Fold	FDR
intracellular monoatomic cation homeostasis	5	83.8×	4e-07
zinc ion transmembrane transport	7	73.4×	2e-09
intracellular zinc ion homeostasis	6	43.1×	6e-07
monoatomic ion transmembrane transport	6	18.6×	8e-05
calcium ion transport	6	16.2×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2830 predictions. Top by Δscore:

Variant	Effect	Δscore
12:29270408:TCA:T	acceptor_loss	1.0000
12:29270410:A:C	acceptor_loss	1.0000
12:29270411:GGA:G	acceptor_gain	1.0000
12:29270411:GGAA:G	acceptor_gain	1.0000
12:29270411:GGAAC:G	acceptor_gain	1.0000
12:29270630:GACA:G	donor_gain	1.0000
12:29270634:GTAAG:G	donor_gain	1.0000
12:29270636:AAGGT:A	donor_loss	1.0000
12:29270638:GGTAT:G	donor_loss	1.0000
12:29270639:G:C	donor_loss	1.0000
12:29270640:T:G	donor_loss	1.0000
12:29293295:TTCA:T	acceptor_loss	1.0000
12:29293296:TCA:T	acceptor_loss	1.0000
12:29293297:CA:C	acceptor_loss	1.0000
12:29293298:A:AC	acceptor_loss	1.0000
12:29293298:A:AG	acceptor_gain	1.0000
12:29293299:G:GC	acceptor_gain	1.0000
12:29293299:GCT:G	acceptor_gain	1.0000
12:29293299:GCTA:G	acceptor_gain	1.0000
12:29293299:GCTAT:G	acceptor_gain	1.0000
12:29297020:GAC:G	acceptor_gain	1.0000
12:29297020:GACAT:G	acceptor_gain	1.0000
12:29297199:GA:G	donor_gain	1.0000
12:29297201:G:GG	donor_gain	1.0000
12:29307653:TTTA:T	acceptor_loss	1.0000
12:29307654:TTA:T	acceptor_loss	1.0000
12:29307655:TAGGT:T	acceptor_loss	1.0000
12:29307656:A:T	acceptor_loss	1.0000
12:29307836:G:GG	donor_gain	1.0000
12:29311877:TTCCA:T	acceptor_loss	1.0000

AlphaMissense

3432 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:29309189:T:A	W243R	0.993
12:29309189:T:C	W243R	0.993
12:29270544:G:C	R32P	0.979
12:29307795:G:C	R228T	0.979
12:29311037:G:T	G260W	0.978
12:29309191:G:C	W243C	0.977
12:29309191:G:T	W243C	0.977
12:29270538:T:C	L30P	0.976
12:29311094:G:C	D279H	0.975
12:29307796:G:C	R228S	0.973
12:29307796:G:T	R228S	0.973
12:29309187:G:A	G242D	0.973
12:29297110:C:T	S152F	0.972
12:29311038:G:A	G260E	0.972
12:29321847:T:C	F394L	0.972
12:29321849:C:A	F394L	0.972
12:29321849:C:G	F394L	0.972
12:29307795:G:T	R228M	0.971
12:29307801:C:T	S230F	0.970
12:29311124:G:A	G289R	0.970
12:29311124:G:C	G289R	0.970
12:29332668:A:C	K442N	0.970
12:29332668:A:T	K442N	0.970
12:29270498:G:T	G17W	0.967
12:29270614:G:C	R55S	0.967
12:29270614:G:T	R55S	0.967
12:29311037:G:A	G260R	0.967
12:29311037:G:C	G260R	0.967
12:29333681:T:A	W479R	0.966
12:29333681:T:C	W479R	0.966

dbSNP variants (sampled 300 via entrez): RS1000021935 (12:29260281 G>A,T), RS1000031571 (12:29193436 T>C), RS1000069550 (12:29276508 G>T), RS1000122874 (12:29284618 A>G), RS1000126389 (12:29230080 G>A), RS1000173172 (12:29289550 T>G), RS1000269674 (12:29232319 C>A), RS1000277201 (12:29171717 C>T), RS1000299084 (12:29271062 C>T), RS1000301698 (12:29190231 G>T), RS1000331622 (12:29277489 A>G), RS1000341367 (12:29150168 C>T), RS1000355795 (12:29324857 C>A), RS1000357030 (12:29323086 T>A,C), RS1000370398 (12:29157130 A>G,T)

Disease associations

OMIM: gene MIM:616156 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST001335_21	Mean platelet volume	6.000000e-16
GCST004599_184	Mean platelet volume	5.000000e-94
GCST004603_97	Platelet count	4.000000e-34
GCST004616_92	Platelet distribution width	1.000000e-21
GCST005116_43	Male-pattern baldness	6.000000e-14
GCST005171_7	QT interval	2.000000e-06
GCST005273_7	Polycystic ovary syndrome	8.000000e-08
GCST006661_121	Male-pattern baldness	5.000000e-16
GCST006661_326	Male-pattern baldness	2.000000e-08
GCST006979_896	Heel bone mineral density	2.000000e-15
GCST009391_445	Metabolite levels	2.000000e-06
GCST009665_18	Breast cancer	2.000000e-07
GCST010002_213	Refractive error	3.000000e-14
GCST010244_173	Triglyceride levels	2.000000e-08
GCST011176_13	Stroke	4.000000e-07
GCST90002395_119	Mean platelet volume	4.000000e-09
GCST90002395_120	Mean platelet volume	1.000000e-165
GCST90002401_235	Platelet distribution width	2.000000e-40
GCST90002402_368	Platelet count	8.000000e-86

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0007984	platelet component distribution width
EFO:0004682	QT interval
EFO:0009270	heel bone mineral density
EFO:0010386	phosphatidylcholine 38:4 measurement
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs7301408	FAR2		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases expression, affects cotreatment	5
(+)-JQ1 compound	decreases expression	4
Tretinoin	decreases expression, increases expression	3
potassium chromate(VI)	affects cotreatment, decreases expression, increases expression	2
entinostat	decreases expression, affects cotreatment	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Cisplatin	decreases expression	2
Particulate Matter	increases abundance, increases expression	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases expression	1
testosterone undecanoate	affects cotreatment, increases expression	1
arsenite	decreases expression	1
methylparaben	decreases expression	1
cobaltous chloride	decreases expression	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
belinostat	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
bisphenol S	increases expression	1
NSC 689534	affects binding, decreases expression	1
Rosiglitazone	increases expression	1
Air Pollutants	increases abundance, increases expression	1

Clinical trials (associated diseases)

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