ACSBG1

Summary

ACSBG1 (acyl-CoA synthetase bubblegum family member 1, HGNC:29567) is a protein-coding gene on chromosome 15q25.1, encoding Long-chain-fatty-acid–CoA ligase ACSBG1 (Q96GR2). Catalyzes the conversion of fatty acids such as long-chain and very long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation.

The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis.

Source: NCBI Gene 23205 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 24
• Clinical variants (ClinVar): 193 total — 8 pathogenic
• MANE Select transcript: NM_015162

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29567
Approved symbol	ACSBG1
Name	acyl-CoA synthetase bubblegum family member 1
Location	15q25.1
Locus type	gene with protein product
Status	Approved
Aliases	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG
Ensembl gene	ENSG00000103740
Ensembl biotype	protein_coding
OMIM	614362
Entrez	23205

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 7 protein_coding, 3 nonsense_mediated_decay, 3 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000258873, ENST00000557935, ENST00000558130, ENST00000558301, ENST00000558728, ENST00000558793, ENST00000558828, ENST00000559114, ENST00000559241, ENST00000559707, ENST00000559713, ENST00000560124, ENST00000560183, ENST00000560817, ENST00000889987, ENST00000889988

RefSeq mRNA: 2 — MANE Select: NM_015162 NM_001199377, NM_015162

CCDS: CCDS10298

Canonical transcript exons

ENST00000258873 — 14 exons

Exon	Start	End
ENSE00001308840	78167468	78171529
ENSE00002554442	78234371	78234565
ENSE00003460859	78174385	78174524
ENSE00003463783	78173593	78173839
ENSE00003489352	78193932	78194020
ENSE00003507947	78182705	78182785
ENSE00003523055	78179550	78179780
ENSE00003542134	78178614	78178831
ENSE00003567779	78193506	78193626
ENSE00003585389	78180755	78180936
ENSE00003589740	78208002	78208102
ENSE00003608697	78182466	78182615
ENSE00003612669	78181969	78182145
ENSE00003677061	78194506	78194726

Expression profiles

Bgee: expression breadth ubiquitous, 207 present calls, max score 98.07.

FANTOM5 (CAGE): breadth broad, TPM avg 4.7768 / max 297.1182, expressed in 241 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
151102	3.7004	152
151105	0.9336	144
151103	0.1362	70
151101	0.0067	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper leg skin	UBERON:0004262	98.07	gold quality
inferior olivary complex	UBERON:0002127	97.63	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.38	gold quality
spinal cord	UBERON:0002240	95.78	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	95.49	gold quality
endothelial cell	CL:0000115	94.53	gold quality
medial globus pallidus	UBERON:0002477	94.30	gold quality
putamen	UBERON:0001874	94.27	gold quality
caudate nucleus	UBERON:0001873	94.24	gold quality
upper arm skin	UBERON:0004263	93.97	gold quality
globus pallidus	UBERON:0001875	93.48	gold quality
substantia nigra	UBERON:0002038	92.88	gold quality
nucleus accumbens	UBERON:0001882	92.75	gold quality
lateral globus pallidus	UBERON:0002476	92.27	gold quality
midbrain	UBERON:0001891	91.88	gold quality
cranial nerve II	UBERON:0000941	91.43	gold quality
amygdala	UBERON:0001876	91.41	gold quality
right frontal lobe	UBERON:0002810	91.02	gold quality
mammalian vulva	UBERON:0000997	89.87	gold quality
temporal lobe	UBERON:0001871	89.84	gold quality
hypothalamus	UBERON:0001898	89.29	gold quality
entorhinal cortex	UBERON:0002728	89.25	gold quality
Brodmann (1909) area 9	UBERON:0013540	88.51	gold quality
prefrontal cortex	UBERON:0000451	88.38	gold quality
skin of abdomen	UBERON:0001416	88.35	gold quality
Ammon’s horn	UBERON:0001954	88.32	gold quality
CA1 field of hippocampus	UBERON:0003881	88.21	silver quality
telencephalon	UBERON:0001893	88.09	gold quality
cingulate cortex	UBERON:0003027	87.70	gold quality
anterior cingulate cortex	UBERON:0009835	87.55	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	9506.64
E-MTAB-9543	yes	25.67
E-HCAD-25	yes	23.98
E-ANND-3	no	4.56

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1, NFYA, SP1, SP3

miRNA regulators (miRDB)

34 targeting ACSBG1, 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-6748-5P	100.00	65.81	1057
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-26A-1-3P	99.64	66.81	788
HSA-MIR-26A-2-3P	99.64	66.82	786
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-3926	98.95	69.26	1438
HSA-MIR-6074	98.89	69.64	2187
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-4490	98.51	68.47	943
HSA-MIR-619-3P	98.38	65.58	693
HSA-MIR-224-5P	98.33	70.12	1256
HSA-MIR-3661	97.83	67.30	705
HSA-MIR-134-5P	97.11	66.52	976
HSA-MIR-3118	97.11	66.58	984
HSA-MIR-3116	97.07	65.78	1324
HSA-MIR-3622A-3P	97.06	66.43	1000
HSA-MIR-631	97.05	66.93	602
HSA-MIR-3622B-3P	96.82	66.36	988
HSA-MIR-4695-3P	96.71	67.21	836

Literature-anchored findings (GeneRIF, showing 2)

• expression tends to be correlated with the severity of X-linked adrenoleukodystrophy (PMID:15800013)
• Sex-Specific Differences in the Transcriptome of the Human Dorsolateral Prefrontal Cortex in Schizophrenia. (PMID:36414910)

Cross-species orthologs

27 orthologs

Organism	Symbol	Gene ID
danio_rerio	acsbg1	ENSDARG00000062077
mus_musculus	Acsbg1	ENSMUSG00000032281
rattus_norvegicus	Acsbg1	ENSRNOG00000011381
drosophila_melanogaster	bgm	FBGN0027348
drosophila_melanogaster	pdgy	FBGN0027601
drosophila_melanogaster	CG8834	FBGN0033733
drosophila_melanogaster	CG17999	FBGN0034552
drosophila_melanogaster	CG9993	FBGN0034553
drosophila_melanogaster	Fatp3	FBGN0034999
drosophila_melanogaster	CG4563	FBGN0035006
drosophila_melanogaster	CG5568	FBGN0035641
drosophila_melanogaster	CG18586	FBGN0035642
drosophila_melanogaster	CG4830	FBGN0037996
drosophila_melanogaster	Acsx1L	FBGN0038730
drosophila_melanogaster	Acsx1R	FBGN0038731
drosophila_melanogaster	Acsx2	FBGN0038732
drosophila_melanogaster	Acsx3	FBGN0038733
drosophila_melanogaster	Acsx4	FBGN0038734
drosophila_melanogaster	Fatp2	FBGN0265187
drosophila_melanogaster	Fatp1	FBGN0267828
drosophila_melanogaster	hll	FBGN0286723
caenorhabditis_elegans		WBGENE00007082
caenorhabditis_elegans		WBGENE00008669
caenorhabditis_elegans		WBGENE00009218
caenorhabditis_elegans		WBGENE00011173
caenorhabditis_elegans		WBGENE00019920
caenorhabditis_elegans		WBGENE00022849

Paralogs (12): ACSL4 (ENSG00000068366), SLC27A5 (ENSG00000083807), SLC27A6 (ENSG00000113396), ACSL3 (ENSG00000123983), SLC27A1 (ENSG00000130304), ACSBG2 (ENSG00000130377), SLC27A2 (ENSG00000140284), SLC27A3 (ENSG00000143554), ACSL1 (ENSG00000151726), ACSL6 (ENSG00000164398), SLC27A4 (ENSG00000167114), ACSL5 (ENSG00000197142)

Protein

Protein identifiers

Long-chain-fatty-acid–CoA ligase ACSBG1 — Q96GR2 (reviewed: Q96GR2)

Alternative names: Acyl-CoA synthetase bubblegum family member 1, Lipidosin

All UniProt accessions (8): Q96GR2, F5H4U6, H0YM34, H0YMC3, H0YMF5, H0YMH2, H0YMZ0, H0YNX0

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the conversion of fatty acids such as long-chain and very long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids.

Subcellular location. Cytoplasm. Cytoplasmic vesicle. Microsome. Endoplasmic reticulum. Cell membrane.

Tissue specificity. Expressed primarily in brain. Expressed at lower level in testis and adrenal gland. Present in all regions of brain except pituitary.

Similarity. Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily.

RefSeq proteins (2): NP_001186306, NP_055977* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000873	AMP-dep_synth/lig_dom	Domain
IPR020845	AMP-binding_CS	Conserved_site
IPR042099	ANL_N_sf	Homologous_superfamily

Pfam: PF00501, PF23562

Catalyzed reactions (Rhea), 3 shown:

• a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate (RHEA:15421)
• hexadecanoate + ATP + CoA = hexadecanoyl-CoA + AMP + diphosphate (RHEA:30751)
• (E)-hexadec-2-enoate + ATP + CoA = (2E)-hexadecenoyl-CoA + AMP + diphosphate (RHEA:36139)

UniProt features (14 total): binding site 5, modified residue 3, sequence variant 3, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96GR2-F1	84.99	0.62

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (5): 282–290; 472–477; 550; 565; 701

Post-translational modifications (3): 658, 53, 56

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-75876	Synthesis of very long-chain fatty acyl-CoAs
R-HSA-1430728	Metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-75105	Fatty acyl-CoA biosynthesis
R-HSA-8978868	Fatty acid metabolism

MSigDB gene sets: 314 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, VERHAAK_AML_WITH_NPM1_MUTATED_DN, REACTOME_SYNTHESIS_OF_VERY_LONG_CHAIN_FATTY_ACYL_COAS, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_MYELOID_CELL_DEVELOPMENT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_RESPONSE_TO_CORTICOSTEROID, GOBP_ERYTHROCYTE_HOMEOSTASIS, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS

GO Biological Process (8): very long-chain fatty acid metabolic process (GO:0000038), long-chain fatty acid metabolic process (GO:0001676), long-chain fatty-acyl-CoA biosynthetic process (GO:0035338), myelination (GO:0042552), long-chain fatty acid biosynthetic process (GO:0042759), response to glucocorticoid (GO:0051384), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)

GO Molecular Function (5): long-chain fatty acid-CoA ligase activity (GO:0004467), ATP binding (GO:0005524), very long-chain fatty acid-CoA ligase activity (GO:0031957), nucleotide binding (GO:0000166), ligase activity (GO:0016874)

GO Cellular Component (6): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasmic vesicle (GO:0031410), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Fatty acyl-CoA biosynthesis	1
Metabolism	1
Fatty acid metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	3
fatty acid metabolic process	2
long-chain fatty acid metabolic process	2
fatty acid-CoA ligase activity	2
long-chain fatty-acyl-CoA metabolic process	1
fatty-acyl-CoA biosynthetic process	1
axon ensheathment	1
fatty acid biosynthetic process	1
response to corticosteroid	1
primary metabolic process	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
intracellular vesicle	1

Protein interactions and networks

STRING

1682 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACSBG1	ABCD1	P33897	881
ACSBG1	SLC27A2	O14975	872
ACSBG1	ABCD2	Q9UBJ2	850
ACSBG1	ABCD4	O14678	813
ACSBG1	ABCD3	P28288	800
ACSBG1	COASY	Q13057	667
ACSBG1	PLXNB3	Q9ULL4	667
ACSBG1	BCAP31	P51572	648
ACSBG1	AASDH	Q4L235	610
ACSBG1	ECI2	O75521	511
ACSBG1	ESR1	P03372	506
ACSBG1	L1CAM	P32004	480
ACSBG1	ACAA1	P09110	453
ACSBG1	STMN4	Q9H169	436
ACSBG1	NTF3	P20783	423

IntAct

9 interactions, top by confidence:

A	B	Type	Score
ACSBG1	NOL11	psi-mi:“MI:0915”(physical association)	0.400
ACSBG1	USP20	psi-mi:“MI:0915”(physical association)	0.400
ACSBG1	USP33	psi-mi:“MI:0915”(physical association)	0.400
GSK3B	ACSBG1	psi-mi:“MI:0915”(physical association)	0.370
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
ANKRD50	PPP1R12A	psi-mi:“MI:0914”(association)	0.350

BioGRID (6): ACSBG1 (Affinity Capture-MS), ACSBG1 (Affinity Capture-MS), NOL11 (Affinity Capture-MS), ACSBG1 (Cross-Linking-MS (XL-MS)), ACSBG1 (Two-hybrid), APP (Reconstituted Complex)

ESM2 similar proteins: A1L1K7, A7DZP8, B2KWI3, F4HUK6, I3PB36, M4IRL4, M4IS88, M4IS92, M4ISH1, M4ISH2, O22898, O35547, O60488, O80658, O95573, P30624, P35571, P39002, P39518, P47912, Q0P4F7, Q2KHW5, Q2XU92, Q4R4P9, Q4WR83, Q5FVE4, Q5R668, Q5ZKR7, Q63151, Q7ZYC4, Q8VCW8, Q8W471, Q924N5, Q96GR2, Q99PU5, Q9C7W4, Q9C8D4, Q9C9G2, Q9CAP8, Q9CZW4

Diamond homologs: A0A0H3C605, A0A345BJN3, A0A3G1DJF8, A0QUA1, A0R3D6, A0R618, A5ITW2, A6U2Q7, A7X3P0, A8FGK6, B2HIL4, B2HIN2, C5BK10, F8J3D9, M4IQQ5, M4ISH2, P0A4X9, P23971, P38135, P39518, P63525, P63526, P95141, P9WEQ8, P9WQ40, P9WQ41, P9WQ42, P9WQ43, Q08AH3, Q4R4P9, Q5HNB2, Q68CK6, Q6E7K9, Q73ZP7, Q7TXK5, Q7TXM1, Q8CS21, Q8W471, Q924N5, Q92AY8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	0
Uncertain significance	120
Likely benign	16
Benign	14

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	Pathogenic
15030	NC_000011.10:g.5249974C>T	Pathogenic
15031	NC_000011.10:g.5250055A>G	Pathogenic
15033	NC_000011.10:g.5250053G>A	Pathogenic
15034	NC_000011.10:g.5250052G>C	Pathogenic
15035	NC_000011.10:g.5249971G>A	Pathogenic
15038	HBG1, 4-BP DEL, -222 TO -225, PROMOTER	Pathogenic
15040	NC_000011.10:g.5250015G>A	Pathogenic

SpliceAI

3076 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5248488:C:CC	acceptor_gain	1.0000
11:5249363:CTCA:C	donor_loss	1.0000
11:5249364:TCA:T	donor_loss	1.0000
11:5249365:CACC:C	donor_loss	1.0000
11:5249366:A:AC	donor_gain	1.0000
11:5249366:AC:A	donor_gain	1.0000
11:5249367:C:CT	donor_gain	1.0000
11:5249367:CC:C	donor_gain	1.0000
11:5249367:CCTTG:C	donor_gain	1.0000
15:78173588:CCTA:C	donor_loss	1.0000
15:78173589:CTACC:C	donor_loss	1.0000
15:78173591:A:AC	donor_gain	1.0000
15:78173592:C:CA	donor_loss	1.0000
15:78173592:C:CC	donor_gain	1.0000
15:78173592:CCCAA:C	donor_gain	1.0000
15:78173598:TCTC:T	donor_gain	1.0000
15:78173599:CTCC:C	donor_gain	1.0000
15:78173641:T:TA	donor_gain	1.0000
15:78178610:TCACC:T	donor_loss	1.0000
15:78178611:CACCT:C	donor_loss	1.0000
15:78178612:A:AC	donor_gain	1.0000
15:78178613:C:CC	donor_gain	1.0000
15:78178827:CTGAG:C	acceptor_gain	1.0000
15:78178829:GAG:G	acceptor_gain	1.0000
15:78178830:AG:A	acceptor_gain	1.0000
15:78178832:C:CC	acceptor_gain	1.0000
15:78178837:G:T	acceptor_gain	1.0000
15:78179544:CCTCA:C	donor_loss	1.0000
15:78179545:CTCAC:C	donor_loss	1.0000
15:78179546:TCACC:T	donor_loss	1.0000

AlphaMissense

4761 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:78182068:G:C	S324R	0.999
15:78182068:G:T	S324R	0.999
15:78182070:T:G	S324R	0.999
15:78179603:A:C	S477R	0.995
15:78179603:A:T	S477R	0.995
15:78179605:T:G	S477R	0.995
15:78182053:G:C	S329R	0.995
15:78182053:G:T	S329R	0.995
15:78182055:T:G	S329R	0.995
15:78193976:G:C	N166K	0.994
15:78193976:G:T	N166K	0.994
15:78182072:A:T	V323D	0.993
15:78182025:A:G	W339R	0.992
15:78182025:A:T	W339R	0.992
15:78181990:A:C	F350L	0.991
15:78181990:A:T	F350L	0.991
15:78181992:A:G	F350L	0.991
15:78182475:A:C	S295R	0.991
15:78182475:A:T	S295R	0.991
15:78182477:T:G	S295R	0.991
15:78193966:A:G	W170R	0.991
15:78193966:A:T	W170R	0.991
15:78181988:G:T	A351D	0.990
15:78194597:G:T	A121D	0.989
15:78179712:C:T	G441E	0.987
15:78180873:A:G	W379R	0.987
15:78180873:A:T	W379R	0.987
15:78182063:A:G	L326P	0.986
15:78182069:C:A	S324I	0.986
15:78178679:A:G	L546P	0.985

dbSNP variants (sampled 300 via entrez): RS1000019271 (15:78226002 T>C), RS1000074240 (15:78213937 T>C), RS1000112502 (15:78231274 C>G), RS1000143014 (15:78233412 C>G,T), RS1000155725 (15:78176835 G>A), RS1000220583 (15:78184399 T>A), RS1000242142 (15:78203416 A>G), RS1000369403 (15:78219300 T>C,G), RS1000503706 (15:78235661 C>T), RS1000557964 (15:78197939 G>A,C,T), RS1000593145 (15:78191997 G>C), RS1000604009 (15:78216552 A>G), RS1000668905 (15:78215080 C>T), RS1000744749 (15:78222980 CT>C), RS1000770244 (15:78184142 T>G)

Disease associations

OMIM: gene MIM:614362 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	Strong	Autosomal dominant
delta-beta-thalassemia	Supportive	Autosomal recessive
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	Supportive	Autosomal recessive

Mondo (4): hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (MONDO:0018749), hereditary persistence of fetal hemoglobin (MONDO:0020989), delta-beta-thalassemia (MONDO:0016489), hereditary persistence of fetal hemoglobin-sickle cell disease syndrome (MONDO:0016672)

Orphanet (2): Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (Orphanet:46532), Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome (Orphanet:251380)

HPO phenotypes

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

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST000532_1	Beta thalassemia/hemoglobin E disease	3.000000e-15
GCST000754_2	Personality dimensions	7.000000e-06
GCST001779_5	Hematology traits	5.000000e-11
GCST001782_4	Mean corpuscular hemoglobin concentration	1.000000e-13
GCST003122_3	Hemoglobin levels	4.000000e-86
GCST003122_7	Hemoglobin levels	1.000000e-25
GCST003476_6	Eyebrow thickness	1.000000e-06
GCST004604_72	Hematocrit	2.000000e-13
GCST004605_6	Mean corpuscular hemoglobin concentration	6.000000e-18
GCST004621_78	Red cell distribution width	3.000000e-57
GCST007005_5	Logical memory (immediate recall) in normal cognition	3.000000e-06
GCST007006_9	Logical memory (delayed recall) in normal cognition	1.000000e-07
GCST007637_9	Diffusing capacity of carbon monoxide	3.000000e-10
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55
GCST90002383_234	Hematocrit	6.000000e-23
GCST90002384_347	Hemoglobin	4.000000e-23
GCST90002385_59	High light scatter reticulocyte count	6.000000e-36
GCST90002386_599	High light scatter reticulocyte percentage of red cells	8.000000e-28
GCST90002391_151	Mean corpuscular hemoglobin concentration	2.000000e-11
GCST90002396_640	Mean reticulocyte volume	9.000000e-44
GCST90002405_341	Reticulocyte count	5.000000e-27
GCST90002406_390	Reticulocyte fraction of red cells	2.000000e-22

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004365	personality trait
EFO:0004348	hematocrit
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004509	hemoglobin measurement
EFO:0005845	hemoglobin A2 measurement
EFO:0004576	fetal hemoglobin measurement
EFO:0009188	Red cell distribution width
EFO:0004874	memory performance
EFO:0009369	diffusing capacity of the lung for carbon monoxide
EFO:0007986	reticulocyte count
EFO:0010701	mean reticulocyte volume

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C562716	Delta-Beta Thalassemia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
sodium arsenite	affects expression	1
aflatoxin B2	decreases methylation	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
licochalcone B	increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Acetaminophen	increases expression	1
Benzene	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Carbamazepine	affects expression	1
Lead	decreases expression	1
Nickel	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	increases expression	1
Isotretinoin	decreases expression	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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