SAP30L

Summary

SAP30L (SAP30 like, HGNC:25663) is a protein-coding gene on chromosome 5q33.2, encoding Histone deacetylase complex subunit SAP30L (Q9HAJ7). Functions as a transcription repressor, probably via its interaction with histone deacetylase complexes.

Enables several functions, including non-sequence-specific DNA binding activity, bending; phosphatidylinositol phosphate binding activity; and zinc ion binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in fibrillar center and nucleoplasm. Part of histone deacetylase complex.

Source: NCBI Gene 79685 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 25 total
• MANE Select transcript: NM_024632

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25663
Approved symbol	SAP30L
Name	SAP30 like
Location	5q33.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11526, NS4ATP2
Ensembl gene	ENSG00000164576
Ensembl biotype	protein_coding
OMIM	610398
Entrez	79685

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 5 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000297109, ENST00000426761, ENST00000440364, ENST00000517926, ENST00000519683, ENST00000520159, ENST00000520731, ENST00000523029, ENST00000523198, ENST00000937072, ENST00000960937

RefSeq mRNA: 3 — MANE Select: NM_024632 NM_001131062, NM_001131063, NM_024632

CCDS: CCDS4326, CCDS47321, CCDS47322

Canonical transcript exons

ENST00000297109 — 4 exons

Exon	Start	End
ENSE00001085624	154445997	154446805
ENSE00003531626	154453402	154453500
ENSE00003692798	154451091	154451213
ENSE00003698115	154455900	154461053

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 96.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.4172 / max 118.9985, expressed in 1794 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
59730	8.9203	1785
59729	1.4969	1138

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	96.32	gold quality
left testis	UBERON:0004533	96.04	gold quality
calcaneal tendon	UBERON:0003701	95.85	gold quality
right lung	UBERON:0002167	94.26	gold quality
testis	UBERON:0000473	94.18	gold quality
ventricular zone	UBERON:0003053	93.01	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.74	gold quality
mucosa of transverse colon	UBERON:0004991	92.32	gold quality
mucosa of stomach	UBERON:0001199	92.31	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.21	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.18	gold quality
granulocyte	CL:0000094	92.12	gold quality
lower esophagus mucosa	UBERON:0035834	91.57	gold quality
body of uterus	UBERON:0009853	91.44	gold quality
left ovary	UBERON:0002119	91.43	gold quality
right ovary	UBERON:0002118	91.37	gold quality
stromal cell of endometrium	CL:0002255	91.34	gold quality
spleen	UBERON:0002106	91.28	gold quality
small intestine	UBERON:0002108	91.23	gold quality
subcutaneous adipose tissue	UBERON:0002190	91.09	gold quality
endocervix	UBERON:0000458	90.92	gold quality
lower esophagus	UBERON:0013473	90.92	gold quality
lower esophagus muscularis layer	UBERON:0035833	90.92	gold quality
transverse colon	UBERON:0001157	90.90	gold quality
skin of hip	UBERON:0001554	90.78	gold quality
descending thoracic aorta	UBERON:0002345	90.78	gold quality
minor salivary gland	UBERON:0001830	90.66	gold quality
tibial artery	UBERON:0007610	90.64	gold quality
popliteal artery	UBERON:0002250	90.62	gold quality
ovary	UBERON:0000992	90.60	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

134 targeting SAP30L, 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-1193	100.00	65.93	529
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3613-3P	100.00	76.36	7965
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-150-5P	99.99	66.69	1976
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-7162-3P	99.89	68.16	1682

Literature-anchored findings (GeneRIF, showing 5)

• SAP30L, a nuclear protein, is upregulated by transforming growth factor-beta in intestinal epithelial cells (PMID:14680513)
• transcriptional repression mediated by SAP30L can be influenced by alternative mRNA splicing (PMID:18070604)
• findings demonstrate new functions for SAP30L and SAP30 by showing that they can associate directly with core histones as well as naked DNA (PMID:19015240)
• Upon oxidative stress SAP30L undergoes the formation of two specific disulfide bonds, a vicinal Cys29-Cys30 and Cys38-Cys74, with a concomitant release of the coordinated zinc ion. The oxidized protein was shown to remain folded in solution and to bind signaling phospholipids. (PMID:26609676)
• Results show that expression of SAP30L was negatively associated with that of SAP30L-AS1 in prostate cancer specimens. Its expression is directly repressed by SAP30L-AS1 in prostate neoplasm. Also, SAP30L overexpression attenuated the roles of SAP30L-AS1 in prostate cancer proliferation and apoptosis. (PMID:30599235)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sap30l	ENSDARG00000030213
		ENSDARG00000111916
mus_musculus	Sap30l	ENSMUSG00000020519
rattus_norvegicus	Sap30l	ENSRNOG00000002575
drosophila_melanogaster	Sap30	FBGN0030788

Paralogs (1): SAP30 (ENSG00000164105)

Protein

Protein identifiers

Histone deacetylase complex subunit SAP30L — Q9HAJ7 (reviewed: Q9HAJ7)

Alternative names: HCV non-structural protein 4A-transactivated protein 2, Sin3 corepressor complex subunit SAP30L, Sin3-associated protein p30-like

All UniProt accessions (1): Q9HAJ7

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a transcription repressor, probably via its interaction with histone deacetylase complexes. Involved in the functional recruitment of the class 1 Sin3-histone deacetylase complex (HDAC) to the nucleolus. Binds DNA, apparently without sequence-specificity, and bends bound double-stranded DNA. Binds phosphoinositol phosphates (phosphoinositol 3-phosphate, phosphoinositol 4-phosphate and phosphoinositol 5-phosphate) via the same basic sequence motif that mediates DNA binding and nuclear import. Functions as a transcription repressor; isoform 2 has lower transcription repressor activity than isoform 1 and isoform 3. Functions as a transcription repressor; its activity is marginally lower than that of isoform 1.

Subunit / interactions. Interacts with components of the histone deacetylase complex SIN3A, HDAC1 and HDAC2. Binds histones and nucleosomes. Interacts with FEZ1.

Subcellular location. Nucleus. Nucleolus Nucleus. Nucleolus.

Tissue specificity. Detected in brain and ovary, and at lower levels in heart, small intestine, lung, kidney, skeletal muscle, stomach and spleen (at protein level). Ubiquitous; expressed in all tissues tested with highest levels in testis.

Domain organisation. The zinc-finger domain mediates direct interaction with DNA and phosphoinositol phosphates (phosphoinositol 3-phosphate, phosphoinositol 4-phosphate and phosphoinositol 5-phosphate). In vitro oxydation causes reversible disulfide bond formation between Cys residues in the zinc-finger domain and reversible loss of zinc ion binding.

Induction. Up-regulated by TGFB1.

Similarity. Belongs to the SAP30 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9HAJ7-1	1	yes
Q9HAJ7-2	2
Q9HAJ7-3	3

RefSeq proteins (3): NP_001124534, NP_001124535, NP_078908* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024145	His_deAcase_SAP30/SAP30L	Family
IPR025717	SAP30_zn-finger	Domain
IPR025718	SAP30_Sin3-bd	Domain
IPR038291	SAP30_C_sf	Homologous_superfamily

Pfam: PF13866, PF13867

UniProt features (32 total): modified residue 5, cross-link 4, mutagenesis site 4, strand 4, region of interest 3, disulfide bond 2, splice variant 2, helix 2, chain 1, zinc finger region 1, sequence conflict 1, turn 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2N1U	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HAJ7-F1	76.51	0.32

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 (9): 99, 104, 49, 155, 166, 175, 1, 92, 93

Disulfide bonds (2): 29–30, 38–74

Mutagenesis-validated functional residues (4):

Position	Phenotype
88–90	strongly reduces affinity for dna and for phosphoinositides.
88–89	impairs nuclear localization.
109–113	reduces transcriptional repressor activity, reduces localization in nucleoli, but has no effect on association with hist
120–127	abolishes nucleolar localization.

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-3214815	HDACs deacetylate histones
R-HSA-427413	NoRC negatively regulates rRNA expression
R-HSA-9679191	Potential therapeutics for SARS
R-HSA-1643685	Disease
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-3247509	Chromatin modifying enzymes
R-HSA-4839726	Chromatin organization
R-HSA-5250941	Negative epigenetic regulation of rRNA expression
R-HSA-5663205	Infectious disease
R-HSA-74160	Gene expression (Transcription)
R-HSA-9679506	SARS-CoV Infections
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 179 (showing top): GCM_MAP4K4, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, WWTAAGGC_UNKNOWN, TAL1ALPHAE47_01, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, MODULE_206, GOBP_MAINTENANCE_OF_CELL_NUMBER, TGACATY_UNKNOWN, GOBP_REGULATION_OF_STEM_CELL_POPULATION_MAINTENANCE, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS, NKX22_01, AACTTT_UNKNOWN

GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), negative regulation of cell migration (GO:0030336), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), negative regulation of stem cell population maintenance (GO:1902455), positive regulation of stem cell population maintenance (GO:1902459)

GO Molecular Function (12): DNA binding (GO:0003677), transcription coregulator activity (GO:0003712), zinc ion binding (GO:0008270), phosphatidylinositol-5-phosphate binding (GO:0010314), nucleosome binding (GO:0031491), phosphatidylinositol-3-phosphate binding (GO:0032266), histone binding (GO:0042393), non-sequence-specific DNA binding, bending (GO:0044378), phosphatidylinositol-4-phosphate binding (GO:0070273), protein binding (GO:0005515), lipid binding (GO:0008289), metal ion binding (GO:0046872)

GO Cellular Component (6): histone deacetylase complex (GO:0000118), fibrillar center (GO:0001650), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), Sin3-type complex (GO:0070822)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Negative epigenetic regulation of rRNA expression	1
SARS-CoV Infections	1
Gene expression (Transcription)	1
Chromatin organization	1
Epigenetic regulation of gene expression	1
Disease	1
Viral Infection Pathways	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phosphatidylinositol phosphate binding	3
stem cell population maintenance	2
regulation of stem cell population maintenance	2
anion binding	2
binding	2
cellular anatomical structure	2
nuclear lumen	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
negative regulation of developmental process	1
negative regulation of multicellular organismal process	1
positive regulation of developmental process	1
positive regulation of multicellular organismal process	1
nucleic acid binding	1
transcription regulator activity	1
transition metal ion binding	1
chromatin binding	1
protein-containing complex binding	1
protein binding	1
DNA binding, bending	1
cation binding	1
nucleoplasm	1
nuclear protein-containing complex	1
catalytic complex	1
nucleolus	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
histone deacetylase complex	1
nuclear chromosome	1
chromatin	1

Protein interactions and networks

STRING

806 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SAP30L	SIN3A	Q96ST3	920
SAP30L	BRMS1L	Q5PSV4	838
SAP30L	SAP18	O00422	719
SAP30L	ING2	Q9H160	698
SAP30L	SUDS3	Q9H7L9	698
SAP30L	HDAC1	Q13547	692
SAP30L	ING3	Q9NXR8	685
SAP30L	RBBP7	Q16576	677
SAP30L	SINHCAF	Q9NP50	655
SAP30L	BRMS1	Q9HCU9	641
SAP30L	RBBP4	P31149	619
SAP30L	ING1	Q9UK53	616
SAP30L	SAP25	Q8TEE9	612
SAP30L	ARID4A	P29374	564
SAP30L	SIN3B	O75182	548

IntAct

60 interactions, top by confidence:

A	B	Type	Score
HDAC2	KDM1A	psi-mi:“MI:0914”(association)	0.890
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
RBBP7	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
HDAC1	TNRC18	psi-mi:“MI:0914”(association)	0.790
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
HDAC1	ZNF609	psi-mi:“MI:0914”(association)	0.730
RBBP7	HAT1	psi-mi:“MI:0914”(association)	0.730
FOXK2	DVL2	psi-mi:“MI:0914”(association)	0.640
SINHCAF	TNRC18	psi-mi:“MI:0914”(association)	0.640
ZNF704	SAP30	psi-mi:“MI:0914”(association)	0.640
SIN3A	SAP30	psi-mi:“MI:0914”(association)	0.640
SAP30L	HMBOX1	psi-mi:“MI:0915”(physical association)	0.560
HMBOX1	SAP30L	psi-mi:“MI:0915”(physical association)	0.560
DVL3	SAP30L	psi-mi:“MI:0915”(physical association)	0.560
FHL2	CNOT1	psi-mi:“MI:0914”(association)	0.530
RBBP4	TNRC18	psi-mi:“MI:0914”(association)	0.530
RBBP7	SMARCA5	psi-mi:“MI:0914”(association)	0.530
RBBP7	EPOP	psi-mi:“MI:0914”(association)	0.530
SAP30	TNRC18	psi-mi:“MI:0914”(association)	0.530

BioGRID (58): SAP30L (Two-hybrid), SAP30L (Affinity Capture-MS), SAP30L (Affinity Capture-MS), SAP30L (Affinity Capture-MS), SAP30L (Affinity Capture-MS), SAP30L (Affinity Capture-MS), SAP30L (Affinity Capture-MS), SAP30L (Affinity Capture-MS), SAP30L (Affinity Capture-MS), SAP30L (Affinity Capture-MS), SAP30L (Affinity Capture-MS), SAP30L (Affinity Capture-MS), SAP30L (Affinity Capture-MS), SAP30L (Affinity Capture-MS), SAP30L (Affinity Capture-MS)

ESM2 similar proteins: A4FVD8, A5D7H2, O14795, O43237, O55047, O70585, O75446, O88574, P58405, P84060, Q02241, Q0VA03, Q13033, Q14161, Q28H91, Q2TAD4, Q4KUS2, Q4R5P6, Q5EA89, Q5HYJ3, Q5R7U7, Q5RE09, Q5SQF8, Q5ZJ65, Q62768, Q6NYV5, Q6PBM7, Q6PDL0, Q80XP8, Q80YA9, Q811S7, Q86UE8, Q8BIK4, Q8C0V0, Q8CBY8, Q8TAV0, Q8WXI2, Q90ZY6, Q922G2, Q96EZ8

Diamond homologs: A4FVD8, O75446, O88574, Q17Q39, Q28H91, Q29IK8, Q2TAD4, Q5SQF8, Q6NYV5, Q7PXY4, Q9HAJ7, Q9VXB3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 42 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	5	76.1×	4e-07
Regulation of PTEN gene transcription	5	29.7×	2e-05
HDACs deacetylate histones	7	28.1×	4e-07
Potential therapeutics for SARS	7	26.6×	4e-07
Negative Regulation of CDH1 Gene Transcription	6	24.0×	7e-06
NuRD complex assembly	5	23.5×	5e-05
Interaction of NuRD complexes with transcription factors	5	21.1×	7e-05
NoRC negatively regulates rRNA expression	6	20.9×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of stem cell population maintenance	10	186.8×	4e-19
positive regulation of stem cell population maintenance	10	83.9×	3e-15
negative regulation of transforming growth factor beta receptor signaling pathway	10	42.4×	2e-12
negative regulation of cell migration	11	29.9×	4e-12
chromatin remodeling	5	8.9×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

836 predictions. Top by Δscore:

Variant	Effect	Δscore
5:154446802:GAGC:G	donor_gain	1.0000
5:154446804:GC:G	donor_gain	1.0000
5:154446806:G:GG	donor_gain	1.0000
5:154453397:CCTA:C	acceptor_loss	1.0000
5:154453399:TAGGT:T	acceptor_loss	1.0000
5:154453400:A:AG	acceptor_gain	1.0000
5:154453400:AGGTT:A	acceptor_gain	1.0000
5:154453401:G:GG	acceptor_gain	1.0000
5:154453401:GGTT:G	acceptor_gain	1.0000
5:154453401:GGTTG:G	acceptor_gain	1.0000
5:154453498:GAA:G	donor_gain	1.0000
5:154453501:G:GG	donor_gain	1.0000
5:154456049:G:GT	donor_gain	1.0000
5:154446801:AGAGC:A	donor_gain	0.9900
5:154446802:GAGCG:G	donor_gain	0.9900
5:154446803:AGC:A	donor_gain	0.9900
5:154446803:AGCGT:A	donor_loss	0.9900
5:154446804:GCG:G	donor_gain	0.9900
5:154446804:GCGT:G	donor_loss	0.9900
5:154446805:CG:C	donor_loss	0.9900
5:154446806:G:A	donor_loss	0.9900
5:154446807:T:A	donor_loss	0.9900
5:154446808:GAGT:G	donor_loss	0.9900
5:154450934:A:AG	acceptor_gain	0.9900
5:154450935:A:G	acceptor_gain	0.9900
5:154450993:A:AG	acceptor_gain	0.9900
5:154453498:G:GT	donor_gain	0.9900
5:154453498:GAAG:G	donor_loss	0.9900
5:154453499:AA:A	donor_gain	0.9900
5:154453500:AG:A	donor_loss	0.9900

AlphaMissense

1223 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:154446689:T:C	C29R	1.000
5:154446690:G:A	C29Y	1.000
5:154446691:C:G	C29W	1.000
5:154446692:T:C	C30R	1.000
5:154446693:G:A	C30Y	1.000
5:154446694:C:G	C30W	1.000
5:154446696:T:A	L31H	1.000
5:154446696:T:C	L31P	1.000
5:154446716:T:A	C38S	1.000
5:154446716:T:C	C38R	1.000
5:154446717:G:A	C38Y	1.000
5:154446717:G:C	C38S	1.000
5:154446718:C:G	C38W	1.000
5:154446731:G:C	G43R	1.000
5:154446732:G:A	G43D	1.000
5:154446738:C:A	A45D	1.000
5:154446743:T:C	F47L	1.000
5:154446744:T:C	F47S	1.000
5:154446745:C:A	F47L	1.000
5:154446745:C:G	F47L	1.000
5:154446746:A:C	S48R	1.000
5:154446748:C:A	S48R	1.000
5:154446748:C:G	S48R	1.000
5:154446753:G:T	R50M	1.000
5:154446754:G:C	R50S	1.000
5:154446754:G:T	R50S	1.000
5:154446756:T:A	V51D	1.000
5:154451103:T:C	Y72H	1.000
5:154451103:T:G	Y72D	1.000
5:154451107:T:A	I73N	1.000

dbSNP variants (sampled 300 via entrez): RS1000833201 (5:154454719 G>A), RS1000857492 (5:154450208 G>C), RS1000970321 (5:154455012 C>G,T), RS1001143828 (5:154448267 C>T), RS1001166252 (5:154453123 C>G,T), RS1001303619 (5:154453461 G>A), RS1001391301 (5:154458987 A>G), RS1001485325 (5:154459898 A>G), RS1001854007 (5:154460193 C>G,T), RS1002021349 (5:154453578 T>A), RS1002052600 (5:154453977 A>C), RS1002280933 (5:154460078 G>T), RS1002416103 (5:154447123 T>G), RS1002540560 (5:154448805 T>A,G), RS1002698867 (5:154445934 A>C)

Disease associations

OMIM: gene MIM:610398 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001915_14	Alzheimer’s disease (cognitive decline)	1.000000e-08
GCST002533_3	QRS duration	1.000000e-06
GCST004029_12	Angiotensin-converting enzyme inhibitor intolerance	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005325	response to angiotensin-converting enzyme inhibitor

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	4
Acetaminophen	affects expression, decreases expression, increases expression	3
Cyclosporine	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
bisphenol A	affects cotreatment, increases expression	1
trichostatin A	increases expression	1
methylparaben	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Carbamazepine	affects expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Succimer	affects cotreatment, decreases expression	1
Endosulfan	decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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