AHCYL2

Summary

AHCYL2 (adenosylhomocysteinase like 2, HGNC:22204) is a protein-coding gene on chromosome 7q32.1, encoding Adenosylhomocysteinase 3 (Q96HN2). May regulate the electrogenic sodium/bicarbonate cotransporter SLC4A4 activity and Mg(2+)-sensitivity.

The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 23382 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 94 total — 4 pathogenic
• MANE Select transcript: NM_015328

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22204
Approved symbol	AHCYL2
Name	adenosylhomocysteinase like 2
Location	7q32.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0828, long-IRBIT, IRBIT2, ADOHCYASE3
Ensembl gene	ENSG00000158467
Ensembl biotype	protein_coding
OMIM	616520
Entrez	23382

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000325006, ENST00000446544, ENST00000460109, ENST00000461161, ENST00000466924, ENST00000466993, ENST00000472554, ENST00000474594, ENST00000477028, ENST00000490911, ENST00000491079, ENST00000492628, ENST00000940557, ENST00000940558, ENST00000940559, ENST00000940560, ENST00000940561, ENST00000960231

RefSeq mRNA: 9 — MANE Select: NM_015328 NM_001130720, NM_001130722, NM_001130723, NM_001393386, NM_001393387, NM_001393388, NM_001393389, NM_001393390, NM_015328

CCDS: CCDS47706, CCDS47707, CCDS47708, CCDS5812

Canonical transcript exons

ENST00000325006 — 17 exons

Exon	Start	End
ENSE00001039048	129413594	129413688
ENSE00001039059	129422840	129422938
ENSE00001039061	129409476	129409546
ENSE00001039070	129405836	129405899
ENSE00001121588	129225030	129225439
ENSE00001628341	129400290	129400384
ENSE00001658936	129406378	129406466
ENSE00001718925	129405097	129405213
ENSE00001804977	129424874	129424942
ENSE00001895409	129427039	129430211
ENSE00003470458	129389634	129389734
ENSE00003493539	129389056	129389199
ENSE00003511469	129397222	129397324
ENSE00003540490	129403379	129403485
ENSE00003569768	129426443	129426563
ENSE00003618669	129425063	129425141
ENSE00003655191	129379638	129379749

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 98.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.8438 / max 367.7639, expressed in 1756 samples.

FANTOM5 promoters (21 alternative TSS)

Promoter ID	TPM avg	Samples expressed
81010	11.1826	1750
81019	0.3944	64
81014	0.2265	66
81020	0.1860	75
81018	0.1630	78
81017	0.1426	54
81015	0.1144	40
81031	0.0618	20
81024	0.0564	19
81013	0.0563	21

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
rectum	UBERON:0001052	98.83	gold quality
mucosa of transverse colon	UBERON:0004991	97.48	gold quality
choroid plexus epithelium	UBERON:0003911	97.38	gold quality
colonic mucosa	UBERON:0000317	96.49	gold quality
gall bladder	UBERON:0002110	95.83	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.83	gold quality
transverse colon	UBERON:0001157	94.07	gold quality
adrenal tissue	UBERON:0018303	93.45	gold quality
colonic epithelium	UBERON:0000397	92.76	gold quality
pancreatic ductal cell	CL:0002079	92.61	gold quality
pigmented layer of retina	UBERON:0001782	92.49	gold quality
left lobe of thyroid gland	UBERON:0001120	92.01	gold quality
right lobe of thyroid gland	UBERON:0001119	91.86	gold quality
thyroid gland	UBERON:0002046	91.66	gold quality
large intestine	UBERON:0000059	91.08	gold quality
caudate nucleus	UBERON:0001873	90.93	gold quality
colon	UBERON:0001155	90.84	gold quality
right frontal lobe	UBERON:0002810	90.12	gold quality
intestine	UBERON:0000160	90.06	gold quality
duodenum	UBERON:0002114	90.01	gold quality
nucleus accumbens	UBERON:0001882	89.91	gold quality
ileal mucosa	UBERON:0000331	89.83	gold quality
upper lobe of left lung	UBERON:0008952	89.64	gold quality
gastrocnemius	UBERON:0001388	89.63	gold quality
muscle of leg	UBERON:0001383	89.62	gold quality
upper lobe of lung	UBERON:0008948	89.61	gold quality
medial globus pallidus	UBERON:0002477	89.44	gold quality
putamen	UBERON:0001874	89.27	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.80	gold quality
lung	UBERON:0002048	88.46	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	72.95
E-CURD-119	yes	37.69
E-GEOD-125970	yes	25.35
E-ANND-3	yes	23.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

200 targeting AHCYL2, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-539-5P	99.93	70.30	2855

Literature-anchored findings (GeneRIF, showing 1)

• Downregulation of KIAA0828 is associated with colon and lung carcinomas (PMID:16865262)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ahcyl2b	ENSDARG00000039343
danio_rerio	ahcyl2a	ENSDARG00000051873
mus_musculus	Ahcyl2	ENSMUSG00000029772
rattus_norvegicus	Ahcyl2	ENSRNOG00000039300
drosophila_melanogaster	AhcyL2	FBGN0015011
drosophila_melanogaster	AhcyL1	FBGN0035371

Paralogs (2): AHCY (ENSG00000101444), AHCYL1 (ENSG00000168710)

Protein

Protein identifiers

Adenosylhomocysteinase 3 — Q96HN2 (reviewed: Q96HN2)

Alternative names: IP(3)Rs binding protein released with IP(3) 2, Long-IRBIT, S-adenosyl-L-homocysteine hydrolase 3, S-adenosylhomocysteine hydrolase-like protein 2

All UniProt accessions (4): Q96HN2, C9JZV7, C9K0S0, H0Y8B3

UniProt curated annotations — full annotation on UniProt →

Function. May regulate the electrogenic sodium/bicarbonate cotransporter SLC4A4 activity and Mg(2+)-sensitivity. On the contrary of its homolog AHCYL1, does not regulate ITPR1 sensitivity to inositol 1,4,5-trisphosphate.

Subunit / interactions. Homotetramer. Forms heteromultimers with AHCYL1 (via the C-terminal region). Interacts with ITPR1; with lower affinity than AHCYL1 and maybe via ITPR1. Interacts with SLC4A4. Interacts with ZCCHC4.

Subcellular location. Cytoplasm. Microsome.

Post-translational modifications. Phosphorylated during neuronal differentiation at the LISN domain.

Cofactor. Binds 1 NAD(+) per subunit.

Pathway. Amino-acid biosynthesis; L-homocysteine biosynthesis; L-homocysteine from S-adenosyl-L-homocysteine: step 1/1.

Similarity. Belongs to the adenosylhomocysteinase family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q96HN2-1	1	yes
Q96HN2-2	2
Q96HN2-3	3
Q96HN2-4	4

RefSeq proteins (9): NP_001124192, NP_001124194, NP_001124195, NP_001380315, NP_001380316, NP_001380317, NP_001380318, NP_001380319, NP_056143* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000043	Adenosylhomocysteinase-like	Family
IPR015878	Ado_hCys_hydrolase_NAD-bd	Domain
IPR020082	S-Ado-L-homoCys_hydrolase_CS	Conserved_site
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily
IPR042172	Adenosylhomocyst_ase-like_sf	Homologous_superfamily

Pfam: PF00670, PF05221

Catalyzed reactions (Rhea), 1 shown:

• S-adenosyl-L-homocysteine + H2O = L-homocysteine + adenosine (RHEA:21708)

UniProt features (71 total): helix 22, strand 13, binding site 12, modified residue 6, splice variant 5, compositionally biased region 5, turn 4, region of interest 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3GVP	X-RAY DIFFRACTION	2.25

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96HN2-F1	80.14	0.69

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 (12): 310; 335; 336–338; 365; 369; 370; 401–406; 422; 457; 478–479; 525; 236

Post-translational modifications (6): 2, 107, 149, 152, 155, 158

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-425381	Bicarbonate transporters
R-HSA-382551	Transport of small molecules
R-HSA-425393
R-HSA-425407	SLC-mediated transmembrane transport

MSigDB gene sets: 251 (showing top): TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, KEGG_CYSTEINE_AND_METHIONINE_METABOLISM, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, CACCAGC_MIR138, MODULE_205, GOBP_S_ADENOSYLMETHIONINE_METABOLIC_PROCESS, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, chr7q32, GOBP_ONE_CARBON_METABOLIC_PROCESS, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, TTGGAGA_MIR5155P_MIR519E, GOCC_NEURON_PROJECTION, CCCAGAG_MIR326, BREDEMEYER_RAG_SIGNALING_NOT_VIA_ATM_UP

GO Biological Process (2): one-carbon metabolic process (GO:0006730), L-methionine cycle (GO:0033353)

GO Molecular Function (2): hydrolase activity (GO:0016787), protein binding (GO:0005515)

GO Cellular Component (4): cytosol (GO:0005829), neuron projection (GO:0043005), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
SLC-mediated transport of inorganic anions	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
cellular anatomical structure	2
small molecule metabolic process	1
L-methionine metabolic process	1
modified amino acid metabolic process	1
purine ribonucleoside metabolic process	1
S-adenosylmethionine metabolic process	1
homocysteine metabolic process	1
catalytic activity	1
binding	1
plasma membrane bounded cell projection	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2251 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AHCYL2	BHMT	Q93088	590
AHCYL2	SLC4A4	Q9Y6R1	574
AHCYL2	BHMT2	Q9H2M3	559
AHCYL2	CTH	P32929	550
AHCYL2	MTR	Q99707	541
AHCYL2	SHMT1	P34896	527
AHCYL2	MAT1A	Q00266	523
AHCYL2	P0DN79	P0DN79	522
AHCYL2	H7C2H4	H7C2H4	521
AHCYL2	SHMT2	P34897	521
AHCYL2	GNMT	Q14749	511
AHCYL2	MAT2A	P31153	483
AHCYL2	MTHFR	P42898	483
AHCYL2	MTHFD2	P13995	438
AHCYL2	MARS1	P56192	429

IntAct

128 interactions, top by confidence:

A	B	Type	Score
HEXIM2	AHCYL1	psi-mi:“MI:0914”(association)	0.740
JOSD2	AHCYL1	psi-mi:“MI:0914”(association)	0.740
CAMKV	AP3B1	psi-mi:“MI:0914”(association)	0.640
TGIF2LY	PGP	psi-mi:“MI:0914”(association)	0.640
NUAK2	PPP1R12A	psi-mi:“MI:0914”(association)	0.640
HOXC9	AHCYL1	psi-mi:“MI:0914”(association)	0.640
DHX8	AHCYL1	psi-mi:“MI:0914”(association)	0.640
CEP72	AHCYL1	psi-mi:“MI:0914”(association)	0.640
ZNF414	AHCYL1	psi-mi:“MI:0914”(association)	0.640
tat	PPM1G	psi-mi:“MI:0914”(association)	0.560
ODAPH	TCAF2	psi-mi:“MI:0914”(association)	0.530
PIP4K2A	AP3B1	psi-mi:“MI:0914”(association)	0.530
FOXD4	PDHX	psi-mi:“MI:0914”(association)	0.530
SOST	KPNA4	psi-mi:“MI:0914”(association)	0.530
GREM2	ZZEF1	psi-mi:“MI:0914”(association)	0.530
RASL10B	AHCYL1	psi-mi:“MI:0914”(association)	0.530
C1orf174	AHCYL1	psi-mi:“MI:0914”(association)	0.530
FBXW11	AHCYL1	psi-mi:“MI:0914”(association)	0.530
ABCF2	AHCYL1	psi-mi:“MI:0914”(association)	0.530
VSX2	USP12	psi-mi:“MI:0914”(association)	0.530
MSL1	MSL3B	psi-mi:“MI:0914”(association)	0.530
ZNF263	AHCYL1	psi-mi:“MI:0914”(association)	0.530
FGF11	CHD1	psi-mi:“MI:0914”(association)	0.530
CSNK1E	ZSWIM8	psi-mi:“MI:0914”(association)	0.530

BioGRID (236): AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5AG16, A0A1S3XSG2, A0A1S4BDC4, A0MH68, A1ZB91, A2XV58, A2Y6Z7, A2ZAK8, A6QLP2, B3N538, B4GH42, B4HWV2, B4JE52, B4Q9T2, B5E0H4, D7PHZ4, H2A0M3, O24575, O42890, O80452, P12807, P23225, P46881, P84193, Q00681, Q07121, Q07123, Q07422, Q0JC10, Q12556, Q23695, Q382V9, Q4E409, Q4W9G3, Q53WK1, Q59118, Q68FL4, Q69RJ0, Q7XVN7, Q8GSM3

Diamond homologs: A0M5W6, A1V8Z2, A1WXM7, A2C620, A2S6W2, A3MQW7, A3NER1, A3P0L8, A3PFB5, A4G975, A5ENA7, A5FJK3, A5GI30, A6GW32, A6QLP2, A6T2Y9, A8G7D1, A9BD69, A9IGY5, A9KD88, B1Y647, B2AGG2, B2JIP4, B2S994, B2T6X2, B2U774, B3EDY3, B3QJT3, B3QMF5, B5DFN2, B6J3R0, B6J6H1, B9MD45, C0RFY3, O13639, O43865, O93477, P10760, P10819, P23526

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
AHCYL2	“down-regulates activity”	PAPOLA	binding
AHCYL2	“down-regulates activity”	PAPOLB	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 159 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.

GO biological processes:

GO term	Partners	Fold	FDR
regulation of intracellular pH	6	26.4×	9e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	69
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	Pathogenic
154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	Pathogenic
2685269	GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1	Pathogenic
60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	Pathogenic

SpliceAI

4526 predictions. Top by Δscore:

Variant	Effect	Δscore
7:129225436:GAAG:G	donor_gain	1.0000
7:129225436:GAAGG:G	donor_loss	1.0000
7:129225437:AAGGT:A	donor_loss	1.0000
7:129225438:AGG:A	donor_loss	1.0000
7:129379636:A:AG	acceptor_gain	1.0000
7:129379637:G:GG	acceptor_gain	1.0000
7:129379637:GCA:G	acceptor_gain	1.0000
7:129379639:A:AG	acceptor_gain	1.0000
7:129379640:G:GG	acceptor_gain	1.0000
7:129379747:CAGG:C	donor_loss	1.0000
7:129379748:AGGT:A	donor_loss	1.0000
7:129379750:G:A	donor_loss	1.0000
7:129379750:G:GG	donor_gain	1.0000
7:129379751:T:A	donor_loss	1.0000
7:129389054:A:AG	acceptor_gain	1.0000
7:129389054:AGCG:A	acceptor_gain	1.0000
7:129389055:G:GG	acceptor_gain	1.0000
7:129389055:GC:G	acceptor_gain	1.0000
7:129389055:GCGG:G	acceptor_gain	1.0000
7:129389055:GCGGC:G	acceptor_gain	1.0000
7:129389199:GGTAA:G	donor_loss	1.0000
7:129389201:T:G	donor_loss	1.0000
7:129397219:CAGGT:C	acceptor_loss	1.0000
7:129397220:A:AG	acceptor_gain	1.0000
7:129397220:AGGT:A	acceptor_gain	1.0000
7:129397220:AGGTG:A	acceptor_loss	1.0000
7:129397221:G:GG	acceptor_gain	1.0000
7:129397221:GGT:G	acceptor_gain	1.0000
7:129397221:GGTG:G	acceptor_gain	1.0000
7:129397322:GTG:G	donor_gain	1.0000

AlphaMissense

3986 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:129389190:G:C	A204P	1.000
7:129389685:T:C	L224S	1.000
7:129389706:G:A	G231D	1.000
7:129397249:G:T	G250W	1.000
7:129397264:T:A	W255R	1.000
7:129397264:T:C	W255R	1.000
7:129397278:C:A	N259K	1.000
7:129397278:C:G	N259K	1.000
7:129400307:T:A	W281R	1.000
7:129400307:T:C	W281R	1.000
7:129400342:T:G	C292W	1.000
7:129403385:G:C	D309H	1.000
7:129403385:G:T	D309Y	1.000
7:129403386:A:T	D309V	1.000
7:129403392:G:A	G311E	1.000
7:129403395:G:A	G312E	1.000
7:129403451:G:C	G331R	1.000
7:129403452:G:A	G331D	1.000
7:129403466:A:C	S336R	1.000
7:129403468:T:A	S336R	1.000
7:129403468:T:G	S336R	1.000
7:129403475:G:A	G339R	1.000
7:129403475:G:C	G339R	1.000
7:129403476:G:A	G339E	1.000
7:129403479:T:A	V340D	1.000
7:129405099:T:C	L343P	1.000
7:129405108:T:C	L346P	1.000
7:129405138:C:A	A356D	1.000
7:129405145:T:A	N358K	1.000
7:129405145:T:G	N358K	1.000

dbSNP variants (sampled 300 via entrez): RS1000012187 (7:129249672 G>A,T), RS1000020343 (7:129290468 T>C), RS1000041003 (7:129407247 G>A), RS1000045756 (7:129353442 C>T), RS1000055915 (7:129344920 C>T), RS1000059390 (7:129360248 C>G), RS1000095109 (7:129307061 A>C,G), RS1000104249 (7:129354666 A>G), RS1000110999 (7:129351754 C>T), RS1000114947 (7:129337410 A>T), RS1000119532 (7:129351730 G>A), RS1000135246 (7:129293095 G>A), RS1000146721 (7:129260909 C>G), RS1000168152 (7:129398340 T>A), RS1000180767 (7:129378379 A>T)

Disease associations

OMIM: gene MIM:616520 | 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
GCST001371_11	Inflammatory biomarkers	2.000000e-06
GCST003013_11	White matter hyperintensity burden	9.000000e-07
GCST003013_25	White matter hyperintensity burden	8.000000e-07
GCST90002383_437	Hematocrit	2.000000e-10
GCST90002384_162	Hemoglobin	4.000000e-12

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005665	white matter hyperintensity measurement
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation	3
bisphenol A	decreases expression, increases expression	2
Air Pollutants	affects expression, increases abundance, increases methylation	2
Benzo(a)pyrene	affects methylation, decreases expression	2
aristolochic acid I	decreases expression	1
bismuth tripotassium dicitrate	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	increases expression	1
decabromobiphenyl ether	decreases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
tetrabromobisphenol A	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
LDN 193189	increases expression, affects cotreatment	1
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	decreases reaction, affects binding	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	increases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Nitrogen Oxides	affects expression, increases abundance, increases methylation	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D9XF	Ubigene HeLa AHCYL2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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