CHTOP

Summary

CHTOP (chromatin target of PRMT1, HGNC:24511) is a protein-coding gene on chromosome 1q21.3, encoding Chromatin target of PRMT1 protein (Q9Y3Y2). Plays an important role in the ligand-dependent activation of estrogen receptor target genes. It is a selective cancer dependency (DepMap: 21.4% of cell lines).

This gene encodes a small nuclear protein that is characterized by an arginine and glycine rich region. This protein may have an important role in the regulation of fetal globin gene expression and in the activation of estrogen-responsive genes. A recent study reported that this protein binds 5-hydroxymethylcytosine (5hmC) and associates with an arginine methyltransferase complex (methylosome), which promotes methylation of arginine 3 of histone H4 (H4R3) and activation of genes involved in glioblastomagenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Source: NCBI Gene 26097 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 54 total
• Cancer dependency (DepMap): dependent in 21.4% of screened cell lines
• MANE Select transcript: NM_015607

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24511
Approved symbol	CHTOP
Name	chromatin target of PRMT1
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP547E1010, SRAG, FOP
Ensembl gene	ENSG00000160679
Ensembl biotype	protein_coding
OMIM	614206
Entrez	26097

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000368686, ENST00000368687, ENST00000368690, ENST00000368694, ENST00000403433, ENST00000495554, ENST00000614256, ENST00000710369

RefSeq mRNA: 4 — MANE Select: NM_015607 NM_001206612, NM_001244664, NM_001317077, NM_015607

CCDS: CCDS1048, CCDS72917, CCDS72918, CCDS81380

Canonical transcript exons

ENST00000368694 — 6 exons

Exon	Start	End
ENSE00001072605	153636572	153636653
ENSE00001176707	153643227	153643364
ENSE00001176715	153638295	153638448
ENSE00001176723	153642246	153642429
ENSE00001940609	153645064	153646306
ENSE00004011689	153634066	153634343

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 98.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 75.7656 / max 453.2079, expressed in 1827 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5418	72.6606	1827
5417	2.2857	1389
5416	0.8193	469

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	98.53	gold quality
ventricular zone	UBERON:0003053	97.74	gold quality
ganglionic eminence	UBERON:0004023	97.47	gold quality
body of pancreas	UBERON:0001150	96.90	gold quality
embryo	UBERON:0000922	96.63	gold quality
right lobe of thyroid gland	UBERON:0001119	96.55	gold quality
granulocyte	CL:0000094	96.43	gold quality
cortical plate	UBERON:0005343	96.41	gold quality
left lobe of thyroid gland	UBERON:0001120	96.22	gold quality
endocervix	UBERON:0000458	96.10	gold quality
left ovary	UBERON:0002119	96.00	gold quality
thyroid gland	UBERON:0002046	95.84	gold quality
right ovary	UBERON:0002118	95.80	gold quality
metanephros cortex	UBERON:0010533	95.80	gold quality
gastrocnemius	UBERON:0001388	95.79	gold quality
body of uterus	UBERON:0009853	95.79	gold quality
ectocervix	UBERON:0012249	95.76	gold quality
medial globus pallidus	UBERON:0002477	95.74	gold quality
muscle of leg	UBERON:0001383	95.64	gold quality
apex of heart	UBERON:0002098	95.62	gold quality
cerebellar hemisphere	UBERON:0002245	95.62	gold quality
right uterine tube	UBERON:0001302	95.58	gold quality
cerebellar cortex	UBERON:0002129	95.57	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.47	gold quality
body of stomach	UBERON:0001161	95.40	gold quality
monocyte	CL:0000576	95.38	gold quality
spleen	UBERON:0002106	95.37	gold quality
leukocyte	CL:0000738	95.32	gold quality
mucosa of transverse colon	UBERON:0004991	95.32	gold quality
skin of abdomen	UBERON:0001416	95.31	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-112	no	2.28
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

79 targeting CHTOP, 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-6740-5P	100.00	65.64	932
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 21.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 10)

• The reduction in SRAG protein that occurs in proliferating cells was mapped with inhibitors to the G(2)/M phase of the cell cycle. As expected, the overexpression of SRAG reduced the percentage of cells in the G(2)/M phase and increased cell death. (PMID:19254951)
• Fop is tightly associated with chromatin, and that it is modified by both asymmetric and symmetric arginine methylation in vivo. Fop plays an important role in the ligand-dependent activation of estrogen receptor target genes, including TFF1 (pS2). (PMID:19858291)
• The recently identified chromatin factor Friend of Prmt1 (FOP) is a critical modulator of gamma-globin gene expression. (PMID:20688955)
• Chtop is a component of the dynamic TREX mRNA export complex that, along with Alyref, activates the ATPase and RNA helicase activities of Uap56. (PMID:23299939)
• a spatial map is produced in living cells of the sites for the interaction of two TREX subunits, Alyref and Chtop, with Nxf1. (PMID:23826332)
• Results suggest that 5hmC plays a critical role in glioblastomagenesis by recruiting the CHTOP-methylosome complex to selective sites on the chromosome, where it methylates H4R3 and activates the transcription of cancer-related genes. (PMID:25284789)
• the cellular level of Chtop is autoregulated via Int2 retention of its own mRNA, which subsequently undergoes NMD. (PMID:27683223)
• These findings first suggest that CHTOP, as a highly expressed protein in ovarian cancer, is closely associated with the malignant phenotypes of epithelial ovarian cancer cells, including metastasis, chemoresistance, and stemness, which highlights a promising role of CHTOP in ovarian cancer targeted therapy. (PMID:30910850)
• Circulating unmethylated CHTOP and INS DNA fragments provide evidence of possible islet cell death in youth with obesity and diabetes. (PMID:32736653)
• Type I and II PRMTs inversely regulate post-transcriptional intron detention through Sm and CHTOP methylation. (PMID:34984976)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	chtopa	ENSDARG00000057234
danio_rerio	chtopb	ENSDARG00000070430
mus_musculus	Chtop	ENSMUSG00000001017
rattus_norvegicus	Chtop	ENSRNOG00000012760
rattus_norvegicus	Chtopl1	ENSRNOG00000058457
caenorhabditis_elegans		WBGENE00000121
caenorhabditis_elegans		WBGENE00000122

Paralogs (2): POLDIP3 (ENSG00000100227), ALYREF (ENSG00000183684)

Protein

Protein identifiers

Chromatin target of PRMT1 protein — Q9Y3Y2 (reviewed: Q9Y3Y2)

Alternative names: Friend of PRMT1 protein, Small arginine- and glycine-rich protein

All UniProt accessions (5): Q9Y3Y2, A0A087X1B7, A0AA34QVV3, Q5T7Y7, X6R700

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in the ligand-dependent activation of estrogen receptor target genes. May play a role in the silencing of fetal globin genes. Recruits the 5FMC complex to ZNF148, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. Plays an important role in the tumorigenicity of glioblastoma cells. Binds to 5-hydroxymethylcytosine (5hmC) and associates with the methylosome complex containing PRMT1, PRMT5, MEP50 and ERH. The CHTOP-methylosome complex associated with 5hmC is recruited to selective sites on the chromosome, where it methylates H4R3 and activates the transcription of genes involved in glioblastomagenesis. Required for effective mRNA nuclear export and is a component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5’ end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi’s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Stimulates DDX39B ATPase and helicase activities. In cooperation with ALYREF/THOC4 enhances NXF1 RNA binding activity.

Subunit / interactions. Interacts with PRMT1 and PRMT5. Interacts with the 5FMC complex; the interaction is methylation-dependent. Interacts with FYTTD1, SET and PRC1 complex members CBX4, RNF2 and PHC2; the interactions are methylation-independent. Interacts with ZNF148. Component of the transcription/export (TREX) complex at least composed of ALYREF/THOC4, DDX39B, SARNP/CIP29, CHTOP and the THO subcomplex; TREX seems to have dynamic structure involving ATP-dependent remodeling; in the complex interacts (methylated) with ALYREF/THOC4 and with DDX39B in a methylation-independent manner. Interacts (methylated) with NXF1; the interaction is mutually exclusive with the NXF1:THOC5 interaction. Interacts with WDR77 and ERH.

Subcellular location. Nucleus. Nucleolus. Nucleoplasm. Nucleus speckle.

Tissue specificity. Expressed in an erythroid progenitor cell line derived from peripheral blood. Expressed in glioblastoma cells.

Post-translational modifications. Asymmetrically methylated by PRMT1. Symmetrically methylated by PRMT5.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y3Y2-1	1	yes
Q9Y3Y2-3	2
Q9Y3Y2-4	3, SRAG-5

RefSeq proteins (4): NP_001193541, NP_001231593, NP_001304006, NP_056422* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025715	FoP_C	Domain
IPR052656	CTOP_PRMT1	Family

Pfam: PF13865

UniProt features (23 total): modified residue 6, mutagenesis site 5, sequence conflict 3, splice variant 2, region of interest 2, initiator methionine 1, chain 1, cross-link 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y3Y2-F1	62.64	0.09

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 (7): 64, 242, 70, 2, 33, 40, 49

Mutagenesis-validated functional residues (5):

Position	Phenotype
195	loss of 5hmc binding; when associated with a-197; a-199; a-201 and a-203.
197	loss of 5hmc binding; when associated with a-195; a-199; a-201 and a-203.
199	loss of 5hmc binding; when associated with a-195; a-197; a-201 and a-203.
201	loss of 5hmc binding; when associated with a-195; a-197; a-199 and a-203.
203	loss of 5hmc binding; when associated with a-195; a-197; a-199 and a-201.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-159236	Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72187	mRNA 3’-end processing
R-HSA-73856	RNA Polymerase II Transcription Termination

MSigDB gene sets: 175 (showing top): BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, WANG_CLIM2_TARGETS_UP, GCM_GSPT1, GCM_ZNF198, MODULE_493, YY1_Q6, GGCNKCCATNK_UNKNOWN, GCM_BCL2L1, GOBP_NUCLEAR_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, YY1_02

GO Biological Process (6): in utero embryonic development (GO:0001701), chromatin remodeling (GO:0006338), mRNA export from nucleus (GO:0006406), positive regulation of ATP-dependent activity (GO:0032781), positive regulation of helicase activity (GO:0051096), mRNA transport (GO:0051028)

GO Molecular Function (3): RNA binding (GO:0003723), methyl-CpG binding (GO:0008327), protein binding (GO:0005515)

GO Cellular Component (5): transcription export complex (GO:0000346), nucleoplasm (GO:0005654), nucleolus (GO:0005730), nuclear speck (GO:0016607), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Transport of Mature Transcript to Cytoplasm	1
Processing of Capped Intron-Containing Pre-mRNA	1
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear lumen	2
chordate embryonic development	1
chromatin organization	1
RNA export from nucleus	1
gene expression	1
mRNA transport	1
regulation of ATP-dependent activity	1
positive regulation of molecular function	1
ATP-dependent activity	1
helicase activity	1
positive regulation of ATP-dependent activity	1
positive regulation of catalytic activity	1
RNA transport	1
nucleic acid binding	1
nucleotide binding	1
sequence-specific DNA binding	1
binding	1
nuclear protein-containing complex	1
cellular anatomical structure	1
intracellular membraneless organelle	1
nuclear ribonucleoprotein granule	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1544 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHTOP	DDX39B	Q13838	982
CHTOP	SARNP	P82979	962
CHTOP	FYTTD1	Q96QD9	861
CHTOP	POLDIP3	Q9BY77	799
CHTOP	THOC5	Q13769	773
CHTOP	ALYREF	Q86V81	758
CHTOP	NXF1	Q9UBU9	733
CHTOP	THOC1	Q96FV9	725
CHTOP	DDX39A	O00148	670
CHTOP	NXT1	Q9UKK6	670
CHTOP	THOC7	Q6I9Y2	638
CHTOP	THOC3	Q96J01	631
CHTOP	NUTF2	P13662	608
CHTOP	THOC2	Q8NI27	592
CHTOP	MCM3AP	O60318	565

IntAct

206 interactions, top by confidence:

A	B	Type	Score
THOC1	THOC5	psi-mi:“MI:0914”(association)	0.930
NXT1	NXF1	psi-mi:“MI:0915”(physical association)	0.910
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
DDX39B	CHTOP	psi-mi:“MI:0915”(physical association)	0.870
DDX39B	CHTOP	psi-mi:“MI:0407”(direct interaction)	0.870
CHTOP	DDX39B	psi-mi:“MI:0915”(physical association)	0.870
CHTOP	ERH	psi-mi:“MI:0915”(physical association)	0.850
ERH	CHTOP	psi-mi:“MI:0915”(physical association)	0.850
SARNP	DDX39A	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
ALYREF	THOC5	psi-mi:“MI:0914”(association)	0.710
ALYREF	CHTOP	psi-mi:“MI:0915”(physical association)	0.680
TDP1	XRCC1	psi-mi:“MI:0914”(association)	0.670
CHTOP	PRMT1	psi-mi:“MI:0915”(physical association)	0.670
PRMT1	CHTOP	psi-mi:“MI:0915”(physical association)	0.670
THOC1	EIF4A3	psi-mi:“MI:0914”(association)	0.660
CHTOP	THOC5	psi-mi:“MI:0914”(association)	0.660
NXF1	CHTOP	psi-mi:“MI:0915”(physical association)	0.650
CHTOP	NXF1	psi-mi:“MI:0407”(direct interaction)	0.650
CHTOP	NXF1	psi-mi:“MI:0914”(association)	0.650

BioGRID (335): CHTOP (Two-hybrid), CHTOP (Two-hybrid), KHDRBS2 (Two-hybrid), CHTOP (Affinity Capture-RNA), CHTOP (Affinity Capture-RNA), CHTOP (Affinity Capture-MS), CHTOP (Affinity Capture-MS), CHTOP (Affinity Capture-MS), CHTOP (Affinity Capture-MS), CHTOP (Affinity Capture-MS), CHTOP (Affinity Capture-MS), CHTOP (Affinity Capture-MS), CHTOP (Affinity Capture-MS), CHTOP (Affinity Capture-MS), CHTOP (Affinity Capture-MS)

ESM2 similar proteins: A0JMU8, A1L1K8, A1L2F3, B5X3V2, C1C488, E1B7L7, G3CHK5, H6D7E6, O60293, O95104, Q14444, Q17QU6, Q1ECZ4, Q1LZB6, Q28IB3, Q2YDJ0, Q3SYW9, Q498T2, Q4KME6, Q4V7Q7, Q5BKG8, Q5CZI8, Q5JVS0, Q5U236, Q5ZJ20, Q60865, Q63623, Q68FG3, Q6DGN6, Q6DID3, Q6P4R8, Q6Y7W6, Q6Y7W8, Q6ZPK0, Q7K3L1, Q7TPM1, Q7TQ84, Q8CHI8, Q91Z49, Q96EV2

Diamond homologs: Q3SYW9, Q498T2, Q9CY57, Q9Y3Y2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 198 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
mRNA 3’-end processing	13	17.6×	1e-10
Transport of Mature mRNA derived from an Intron-Containing Transcript	15	15.8×	2e-11
Transport of Mature Transcript to Cytoplasm	5	13.1×	2e-03
RNA Polymerase II Transcription Termination	8	12.1×	3e-05
Processing of Capped Intron-Containing Pre-mRNA	14	7.9×	4e-07
Anchoring of the basal body to the plasma membrane	10	7.8×	6e-05
Loss of Nlp from mitotic centrosomes	7	7.7×	2e-03
Loss of proteins required for interphase microtubule organization from the centrosome	7	7.7×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
RNA export from nucleus	5	26.3×	2e-04
mRNA export from nucleus	15	24.9×	3e-14
regulation of mRNA processing	5	24.9×	2e-04
spliceosomal complex assembly	6	20.3×	1e-04
spliceosomal snRNP assembly	6	19.6×	1e-04
regulation of alternative mRNA splicing, via spliceosome	7	9.6×	9e-04
mRNA splicing, via spliceosome	18	9.3×	6e-10
RNA splicing	17	8.4×	9e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

691 predictions. Top by Δscore:

Variant	Effect	Δscore
1:153636567:TGTA:T	acceptor_loss	1.0000
1:153636568:GTAG:G	acceptor_loss	1.0000
1:153636569:TAGAT:T	acceptor_loss	1.0000
1:153636570:A:G	acceptor_loss	1.0000
1:153636571:G:GA	acceptor_loss	1.0000
1:153636649:GAGCG:G	donor_gain	1.0000
1:153636651:GCG:G	donor_gain	1.0000
1:153634342:CGG:C	donor_loss	0.9900
1:153634343:GGTG:G	donor_loss	0.9900
1:153634344:G:C	donor_loss	0.9900
1:153634344:G:GG	donor_gain	0.9900
1:153634345:TGAG:T	donor_loss	0.9900
1:153636570:A:AG	acceptor_gain	0.9900
1:153636571:G:GG	acceptor_gain	0.9900
1:153636686:C:CG	donor_gain	0.9900
1:153636686:C:G	donor_gain	0.9900
1:153636743:C:G	donor_gain	0.9900
1:153638684:A:G	donor_gain	0.9900
1:153634340:TTCG:T	donor_gain	0.9800
1:153634341:TCG:T	donor_gain	0.9800
1:153634346:GAG:G	donor_loss	0.9800
1:153634355:T:TA	donor_gain	0.9800
1:153634356:A:AA	donor_gain	0.9800
1:153636654:G:GG	donor_gain	0.9800
1:153638280:T:TA	acceptor_gain	0.9800
1:153636571:GA:G	acceptor_gain	0.9700
1:153636571:GATT:G	acceptor_gain	0.9700
1:153638273:T:G	acceptor_gain	0.9700
1:153638290:T:TA	acceptor_gain	0.9700
1:153638293:A:AG	acceptor_gain	0.9700

AlphaMissense

1541 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:153636620:T:A	L11Q	1.000
1:153636620:T:C	L11P	1.000
1:153636644:T:A	L19Q	1.000
1:153636644:T:C	L19P	1.000
1:153636653:G:C	R22P	1.000
1:153638296:T:A	F23I	1.000
1:153638296:T:C	F23L	1.000
1:153638296:T:G	F23V	1.000
1:153638297:T:C	F23S	1.000
1:153638297:T:G	F23C	1.000
1:153638298:T:A	F23L	1.000
1:153638298:T:G	F23L	1.000
1:153638393:T:C	L55P	1.000
1:153638396:C:A	A56D	1.000
1:153638405:T:C	M59T	1.000
1:153638405:T:G	M59R	1.000
1:153638414:G:C	R62T	1.000
1:153638415:A:C	R62S	1.000
1:153638415:A:T	R62S	1.000
1:153638423:T:A	V65D	1.000
1:153645169:T:A	L216Q	1.000
1:153645169:T:C	L216P	1.000
1:153645171:G:C	D217H	1.000
1:153645171:G:T	D217Y	1.000
1:153645172:A:C	D217A	1.000
1:153645172:A:T	D217V	1.000
1:153645173:C:A	D217E	1.000
1:153645173:C:G	D217E	1.000
1:153645178:A:C	Q219P	1.000
1:153645181:T:C	L220S	1.000

dbSNP variants (sampled 300 via entrez): RS1000187941 (1:153639525 C>T), RS1000426770 (1:153638570 C>A,T), RS1000651580 (1:153642565 T>G), RS1000690592 (1:153642959 T>C), RS1000851877 (1:153637704 C>T), RS1000926345 (1:153637425 G>A), RS1001120163 (1:153632245 A>G), RS1001530344 (1:153632397 G>A), RS1001577902 (1:153642002 C>G), RS1001587220 (1:153632503 C>T), RS1001704619 (1:153637050 T>C), RS1001903315 (1:153632676 C>G,T), RS1001910370 (1:153643980 C>T), RS1002184205 (1:153632941 G>A,C), RS1002210709 (1:153636317 G>A)

Disease associations

OMIM: gene MIM:614206 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	4
sodium arsenite	affects binding, increases reaction, decreases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
Cadmium Chloride	decreases expression, increases expression, increases methylation	2
Particulate Matter	decreases expression, increases abundance, affects expression, affects cotreatment	2
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
deoxynivalenol	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
bisphenol S	affects expression	1
jinfukang	affects cotreatment, decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Arsenic Trioxide	increases expression	1
Vorinostat	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Vehicle Emissions	increases abundance, affects expression	1
Benzo(a)pyrene	affects methylation	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, decreases expression	1
Diazinon	increases methylation	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Ivermectin	decreases expression	1

Clinical trials (associated diseases)

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