ZNF512B

Summary

ZNF512B (zinc finger protein 512B, HGNC:29212) is a protein-coding gene on chromosome 20q13.33, encoding Zinc finger protein 512B (Q96KM6). Involved in transcriptional regulation by repressing gene expression.

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of miRNA transcription. Located in nucleoplasm.

Source: NCBI Gene 57473 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 168 total
• MANE Select transcript: NM_020713

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29212
Approved symbol	ZNF512B
Name	zinc finger protein 512B
Location	20q13.33
Locus type	gene with protein product
Status	Approved
Aliases	GM632, MGC149845, MGC149846
Ensembl gene	ENSG00000196700
Ensembl biotype	protein_coding
OMIM	617886
Entrez	57473

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000369888, ENST00000877675, ENST00000877676, ENST00000912625, ENST00000961304, ENST00000961305

RefSeq mRNA: 1 — MANE Select: NM_020713 NM_020713

CCDS: CCDS13548

Canonical transcript exons

ENST00000369888 — 17 exons

Exon	Start	End
ENSE00000663620	63961309	63961407
ENSE00000663621	63961942	63962004
ENSE00000663623	63962587	63962781
ENSE00000663624	63963095	63963265
ENSE00000663625	63963342	63963440
ENSE00000663626	63963618	63963710
ENSE00000663627	63963789	63963913
ENSE00000663628	63964071	63964217
ENSE00000663629	63964490	63964716
ENSE00000663630	63966141	63966781
ENSE00000856665	63956704	63960139
ENSE00000856666	63962273	63962374
ENSE00000856667	63964320	63964391
ENSE00000856668	63966876	63967004
ENSE00001109299	63967381	63967523
ENSE00001209039	63967830	63967952
ENSE00001451181	63969814	63969930

Expression profiles

Bgee: expression breadth ubiquitous, 277 present calls, max score 89.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.7123 / max 80.9214, expressed in 1726 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
188438	11.1823	1723
188439	0.3164	136
188437	0.2137	90

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	89.67	gold quality
secondary oocyte	CL:0000655	88.40	gold quality
cerebellar vermis	UBERON:0004720	87.10	gold quality
upper leg skin	UBERON:0004262	86.77	gold quality
pituitary gland	UBERON:0000007	86.51	gold quality
right lobe of thyroid gland	UBERON:0001119	86.24	gold quality
esophagus squamous epithelium	UBERON:0006920	86.06	gold quality
gingival epithelium	UBERON:0001949	85.93	gold quality
gingiva	UBERON:0001828	85.77	gold quality
adenohypophysis	UBERON:0002196	85.74	gold quality
left lobe of thyroid gland	UBERON:0001120	85.57	gold quality
epithelium of esophagus	UBERON:0001976	85.51	gold quality
skin of hip	UBERON:0001554	85.44	gold quality
cortical plate	UBERON:0005343	85.33	gold quality
thyroid gland	UBERON:0002046	85.02	gold quality
squamous epithelium	UBERON:0006914	84.92	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.88	gold quality
penis	UBERON:0000989	84.84	gold quality
right lobe of liver	UBERON:0001114	84.76	gold quality
tibia	UBERON:0000979	84.75	gold quality
lower esophagus mucosa	UBERON:0035834	84.30	gold quality
thymus	UBERON:0002370	84.02	gold quality
esophagus mucosa	UBERON:0002469	84.02	gold quality
mammalian vulva	UBERON:0000997	83.93	gold quality
cerebellar hemisphere	UBERON:0002245	83.83	gold quality
nipple	UBERON:0002030	83.79	gold quality
cerebellar cortex	UBERON:0002129	83.78	gold quality
cerebellum	UBERON:0002037	83.76	gold quality
metanephros cortex	UBERON:0010533	83.76	gold quality
pigmented layer of retina	UBERON:0001782	83.62	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.83

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
ZNF512B

Upstream regulators (CollecTRI, top): ZNF512B

miRNA regulators (miRDB)

212 targeting ZNF512B, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819

Literature-anchored findings (GeneRIF, showing 9)

• Evidence that GAM/ZFp/ZNF512B may potentially maintain homeostasis by affecting the levels of regulators such as E2F1 and Ras, by modulating miR-17-92 miRNAs, by interacting with Drosha, and by interfering with TGFbeta signaling. (PMID:20639536)
• A functional SNP (rs2275294) in ZNF512B was found to be significantly associated with amyotrophic lateral sclerosis in Japanese. (PMID:21665992)
• The objective of our study was to examine whether the new single-nucleotide polymorphism in the ZNF512B gene might influence the phenotype of amyotrophic lateral sclerosis (PMID:23168171)
• In conclusion, our case-control study suggests that the CC genotype and C allele at rs2275294 are associated with increased risk of ALS in Han Chinese, particularly females. (PMID:26313240)
• The SNP rs2275294 in ZNF512B is not considered to be associated with ALS susceptibility in the Chinese population. Our (PMID:26668144)
• Genetic Analysis of the ZNF512B, SLC41A1, and ALDH2 Polymorphisms in Parkinson’s Disease in the Iranian Population. (PMID:27612022)
• Single nucleotide polymorphism (SNP) rs2275294 associated with susceptibility to sporadic ALS (sALS) in the ZNF512B gene on chromosome 20q13.33. (PMID:28740063)
• Five case-control studies involving 2559 patients with sporadic amyotrophic lateral sclerosis (ALS) and 5740 controls were analyzed. Based on random-effects meta-analysis, the ZNF512B polymorphism rs2275294 was associated with increased risk of ALS disease in an allele model. The available evidence suggests that the ZNF512B polymorphism rs2275294 is associated with ALS risk. (PMID:29713939)
• Association of Single Nucleotide Polymorphism at rs2275294 in the ZNF512B Gene with Prognosis in Amyotrophic Lateral Sclerosis. (PMID:33387304)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf512b	ENSDARG00000071055
mus_musculus	Zfp512b	ENSMUSG00000000823
rattus_norvegicus	Zfp512b	ENSRNOG00000015558
drosophila_melanogaster	Vajk3	FBGN0028544
drosophila_melanogaster	Vajk2	FBGN0032538
drosophila_melanogaster	nahoda	FBGN0034797
drosophila_melanogaster	Vajk4	FBGN0050101
caenorhabditis_elegans		WBGENE00007479

Paralogs (2): GGN (ENSG00000179168), ZNF512 (ENSG00000243943)

Protein

Protein identifiers

Zinc finger protein 512B — Q96KM6 (reviewed: Q96KM6)

All UniProt accessions (1): Q96KM6

UniProt curated annotations — full annotation on UniProt →

Function. Involved in transcriptional regulation by repressing gene expression. Associates with the nucleosome remodeling and histone deacetylase (NuRD) complex, which promotes transcriptional repression by histone deacetylation and nucleosome remodeling. Sequence-specific DNA-binding protein that recognizes repetitive and non-consecutive TTC sequences in pericentric repeat and initiate heterochromatin formation through interaction with SUV39H1/2 methyltransferases which catalyze histone H3K9 methylation.

Subunit / interactions. Interacts (via its NuRD interaction motif) with RBBP4 of the nucleosome remodeling and deacetylase (NuRD) complex; the interaction is direct and may play a role in repressing gene expression.

Subcellular location. Nucleus. Chromosome.

Domain organisation. Has an atypical organization of its zinc-fingers, with long linkers separating them, providing flexibility for recognizing non-consecutive 3-nucleotide triplets targeted by each zinc finger.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

RefSeq proteins (1): NP_065764* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR048408	ZNF512_C2HC	Domain
IPR052274	Krueppel_C2H2_Zn-finger	Family

Pfam: PF00096, PF21276

UniProt features (36 total): zinc finger region 7, compositionally biased region 7, region of interest 5, mutagenesis site 4, sequence variant 3, helix 3, modified residue 2, turn 2, chain 1, short sequence motif 1, strand 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8TX8	X-RAY DIFFRACTION	2.2
2GQJ	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96KM6-F1	58.09	0.05

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 (2): 409, 686

Mutagenesis-validated functional residues (4):

Position	Phenotype
422	abolishes interaction with the nurd complex.
423	abolishes interaction with the nurd complex and impairs repression of gene expression.
424	impairs interaction with the nurd complex.
427	abolishes interaction with the nurd complex.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9013424	RHOV GTPase cycle

MSigDB gene sets: 176 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, TGCACTT_MIR519C_MIR519B_MIR519A, PATIL_LIVER_CANCER, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_UP, ACTTTAT_MIR1425P, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, SENESE_HDAC3_TARGETS_DN, LIU_SOX4_TARGETS_DN

GO Biological Process (3): constitutive heterochromatin formation (GO:0140719), negative regulation of miRNA transcription (GO:1902894), negative regulation of transcription by RNA polymerase II (GO:0000122)

GO Molecular Function (6): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleoplasm (GO:0005654), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of DNA-templated transcription	2
heterochromatin formation	1
miRNA transcription	1
regulation of miRNA transcription	1
negative regulation of miRNA metabolic process	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
transcription cis-regulatory region binding	1
negative regulation of transcription by RNA polymerase II	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
nucleic acid binding	1
transition metal ion binding	1
binding	1
cation binding	1
nuclear lumen	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1166 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF512B	LBHD1	Q9BQE6	569
ZNF512B	ZMYND8	Q9ULU4	529
ZNF512B	CRAMP1	Q96RY5	510
ZNF512B	ZGPAT	Q8N5A5	491
ZNF512B	THAP7	Q9BT49	478
ZNF512B	PHF20L1	A8MW92	465
ZNF512B	CROCC2	H7BZ55	459
ZNF512B	SALL4	Q9UJQ4	456
ZNF512B	FGGY	Q96C11	451
ZNF512B	ZFAND3	Q9H8U3	447
ZNF512B	DONSON	Q9NYP3	439
ZNF512B	SFI1	A8K8P3	438
ZNF512B	BBX	Q8WY36	437
ZNF512B	TAF2	Q6P1X5	429
ZNF512B	POLR2H	P52434	422

IntAct

162 interactions, top by confidence:

A	B	Type	Score
FHL3	ZNF512B	psi-mi:“MI:0915”(physical association)	0.870
ZNF512B	FHL3	psi-mi:“MI:0915”(physical association)	0.870
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
RBBP7	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
ZNF512B	TRAF1	psi-mi:“MI:0915”(physical association)	0.780
TRAF1	ZNF512B	psi-mi:“MI:0915”(physical association)	0.780
MBD3	CDK2AP1	psi-mi:“MI:0914”(association)	0.730
SIAH1	ZNF512B	psi-mi:“MI:0915”(physical association)	0.560
ZNF512B	SIAH1	psi-mi:“MI:0915”(physical association)	0.560
C11orf68	ZNF512B	psi-mi:“MI:0915”(physical association)	0.560
BANP	ZNF512B	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	ZNF512B	psi-mi:“MI:0915”(physical association)	0.560
RABEP1	ZNF512B	psi-mi:“MI:0915”(physical association)	0.560
AJUBA	ZNF512B	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	ZNF512B	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	ZNF512B	psi-mi:“MI:0915”(physical association)	0.560
ZNF143	ZNF512B	psi-mi:“MI:0915”(physical association)	0.560
ZNF512B	MDFI	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (238): ZNF512B (Two-hybrid), ZNF512B (Two-hybrid), ZNF512B (Two-hybrid), ZNF512B (Affinity Capture-MS), ZNF512B (Affinity Capture-MS), ZNF512B (Affinity Capture-MS), ZNF512B (Affinity Capture-MS), ZNF512B (Proximity Label-MS), ZNF512B (Proximity Label-MS), ZNF512B (Affinity Capture-MS), ZNF512B (Affinity Capture-MS), ZNF512B (Affinity Capture-MS), ZNF512B (Affinity Capture-MS), ZNF512B (Affinity Capture-MS), ZNF512B (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8HTT5, A0JPQ7, A4FV61, A4IFK0, O75151, O88974, P35689, P49140, P55265, P55266, P97432, Q02040, Q0VEE6, Q14202, Q14596, Q15047, Q15554, Q501R9, Q53GL0, Q5EAN7, Q5F3F2, Q5HYC2, Q5R6F3, Q5RC94, Q5RF77, Q5SYB0, Q642B6, Q69Z66, Q69Z99, Q6P3Z3, Q76CY8, Q810L3, Q86XL3, Q8C4S8, Q8ND82, Q8NE31, Q8WY91, Q91VL8, Q95JV5, Q96EP1

Diamond homologs: A4FV61, Q5R6F3, Q69Z99, Q95JV5, Q96KM6, Q96ME7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 132 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
Regulation of TP53 Activity through Acetylation	6	28.0×	1e-05
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	7	27.2×	4e-06
RNA Polymerase I Transcription Initiation	6	13.7×	3e-04
NuRD complex assembly	9	12.9×	1e-05
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression	8	12.4×	3e-05
Interaction of NuRD complexes with transcription factors	9	11.7×	1e-05
Regulation of PTEN gene transcription	6	10.9×	9e-04
Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)	9	10.8×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
regulation of stem cell differentiation	6	37.1×	2e-06
chromatin remodeling	17	10.0×	9e-10
Wnt signaling pathway	8	6.4×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	126
Likely benign	17
Benign	12

Top pathogenic / likely-pathogenic (0)

SpliceAI

2589 predictions. Top by Δscore:

Variant	Effect	Δscore
20:63960135:CAGTT:C	acceptor_gain	1.0000
20:63960137:GTT:G	acceptor_gain	1.0000
20:63960137:GTTC:G	acceptor_loss	1.0000
20:63960138:TT:T	acceptor_gain	1.0000
20:63960138:TTCTG:T	acceptor_loss	1.0000
20:63960140:C:CA	acceptor_loss	1.0000
20:63960140:C:CC	acceptor_gain	1.0000
20:63960141:T:A	acceptor_loss	1.0000
20:63962264:T:TA	donor_gain	1.0000
20:63962267:GCTCA:G	donor_loss	1.0000
20:63962268:CTCA:C	donor_loss	1.0000
20:63962269:TCACG:T	donor_loss	1.0000
20:63962270:CA:C	donor_loss	1.0000
20:63962271:A:AC	donor_gain	1.0000
20:63962271:ACGTC:A	donor_loss	1.0000
20:63962272:C:CC	donor_gain	1.0000
20:63962272:CGT:C	donor_gain	1.0000
20:63962272:CGTCG:C	donor_gain	1.0000
20:63962274:T:TA	donor_gain	1.0000
20:63962581:GCTCA:G	donor_loss	1.0000
20:63962582:CTCA:C	donor_loss	1.0000
20:63962583:TCA:T	donor_loss	1.0000
20:63962584:CA:C	donor_loss	1.0000
20:63962585:AC:A	donor_gain	1.0000
20:63962586:CC:C	donor_gain	1.0000
20:63962612:T:TA	donor_gain	1.0000
20:63962782:C:CC	acceptor_gain	1.0000
20:63962790:C:CT	acceptor_gain	1.0000
20:63963090:CTCA:C	donor_loss	1.0000
20:63963091:TCACG:T	donor_loss	1.0000

AlphaMissense

5802 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:63961357:G:C	F793L	1.000
20:63961357:G:T	F793L	1.000
20:63961359:A:G	F793L	1.000
20:63961380:A:G	C786R	1.000
20:63962669:A:G	L694P	1.000
20:63963223:G:C	H614D	1.000
20:63963248:G:C	F605L	1.000
20:63963248:G:T	F605L	1.000
20:63963250:A:G	F605L	1.000
20:63963353:A:G	C596R	1.000
20:63963644:G:C	H558D	1.000
20:63963647:A:C	Y557D	1.000
20:63963647:A:G	Y557H	1.000
20:63963652:A:G	L555P	1.000
20:63963655:C:T	G554D	1.000
20:63963670:A:G	F549S	1.000
20:63963681:G:C	C545W	1.000
20:63963683:A:G	C545R	1.000
20:63963691:C:G	C542S	1.000
20:63963692:A:G	C542R	1.000
20:63963692:A:T	C542S	1.000
20:63963797:A:G	C533R	1.000
20:63963817:A:G	L526P	1.000
20:63963851:A:G	C515R	1.000
20:63963858:G:C	C512W	1.000
20:63963860:A:G	C512R	1.000
20:63966904:A:G	L122P	1.000
20:63966907:C:T	G121E	1.000
20:63966921:G:C	F116L	1.000
20:63966921:G:T	F116L	1.000

dbSNP variants (sampled 300 via entrez): RS1000000342 (20:63966526 A>T), RS1000896185 (20:63960031 G>A,C,T), RS1001177270 (20:63970252 G>A), RS1001227639 (20:63963355 C>T), RS1001325900 (20:63971502 C>T), RS1001348754 (20:63959826 G>A), RS1001872167 (20:63958507 C>G,T), RS1002108497 (20:63968011 A>G), RS1002214087 (20:63969346 C>T), RS1002395917 (20:63959599 T>G), RS1002450226 (20:63959325 G>A), RS1002733115 (20:63958531 A>C,G), RS1003015262 (20:63969962 CG>C,CGG), RS1003067503 (20:63969694 G>C,T), RS1003138854 (20:63957501 G>A)

Disease associations

OMIM: gene MIM:617886 | 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
GCST001942_22	Prostate cancer	4.000000e-16
GCST008362_71	Birth weight	2.000000e-09
GCST008363_133	Offspring birth weight	2.000000e-06
GCST90002395_611	Mean platelet volume	6.000000e-09
GCST90011900_13	Serum alkaline phosphatase levels	5.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression, increases methylation	4
sodium arsenite	increases expression, decreases expression, increases abundance	3
Acetaminophen	decreases expression	3
Arsenic	affects methylation, decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Cyclosporine	decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
methylmercuric chloride	decreases expression	1
butyraldehyde	decreases expression	1
nickel chloride	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nivalenol	increases expression	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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