CHPF

Summary

CHPF (chondroitin polymerizing factor, HGNC:24291) is a protein-coding gene on chromosome 2q35, encoding Chondroitin sulfate synthase 2 (Q8IZ52). Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity.

Enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus.

Source: NCBI Gene 79586 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 131 total
• MANE Select transcript: NM_024536

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24291
Approved symbol	CHPF
Name	chondroitin polymerizing factor
Location	2q35
Locus type	gene with protein product
Status	Approved
Aliases	CSS2, CHSY2, CHPF1
Ensembl gene	ENSG00000123989
Ensembl biotype	protein_coding
OMIM	610405
Entrez	79586

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000243776, ENST00000373891, ENST00000535926, ENST00000688634, ENST00000691864, ENST00000693236, ENST00000888378, ENST00000919936

RefSeq mRNA: 2 — MANE Select: NM_024536 NM_001195731, NM_024536

CCDS: CCDS2443, CCDS56169

Canonical transcript exons

ENST00000243776 — 4 exons

Exon	Start	End
ENSE00000843590	219538954	219540642
ENSE00000843591	219540946	219541125
ENSE00001181672	219543225	219543809
ENSE00003550840	219541616	219542189

Expression profiles

Bgee: expression breadth ubiquitous, 242 present calls, max score 97.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 57.6788 / max 309.8323, expressed in 1678 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34096	48.5976	1664
34095	8.2682	1475
34092	0.3095	125
34097	0.2928	129
34094	0.2107	90

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
decidua	UBERON:0002450	97.80	gold quality
adenohypophysis	UBERON:0002196	97.63	gold quality
stromal cell of endometrium	CL:0002255	97.45	gold quality
apex of heart	UBERON:0002098	97.36	gold quality
right atrium auricular region	UBERON:0006631	97.21	gold quality
ascending aorta	UBERON:0001496	97.06	gold quality
thoracic aorta	UBERON:0001515	97.02	gold quality
left ovary	UBERON:0002119	96.94	gold quality
pituitary gland	UBERON:0000007	96.65	gold quality
body of pancreas	UBERON:0001150	96.65	gold quality
right ovary	UBERON:0002118	96.62	gold quality
right coronary artery	UBERON:0001625	96.61	gold quality
right testis	UBERON:0004534	96.43	gold quality
cardiac atrium	UBERON:0002081	96.35	gold quality
left testis	UBERON:0004533	96.31	gold quality
descending thoracic aorta	UBERON:0002345	96.07	gold quality
heart left ventricle	UBERON:0002084	95.77	gold quality
cardiac ventricle	UBERON:0002082	95.45	gold quality
type B pancreatic cell	CL:0000169	95.33	gold quality
olfactory bulb	UBERON:0002264	94.93	gold quality
left coronary artery	UBERON:0001626	94.44	gold quality
aorta	UBERON:0000947	94.41	gold quality
heart	UBERON:0000948	94.33	gold quality
coronary artery	UBERON:0001621	94.22	gold quality
right lobe of liver	UBERON:0001114	93.99	gold quality
testis	UBERON:0000473	93.93	gold quality
endocervix	UBERON:0000458	93.85	gold quality
left lobe of thyroid gland	UBERON:0001120	93.01	gold quality
popliteal artery	UBERON:0002250	92.60	gold quality
tibial artery	UBERON:0007610	92.59	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-MTAB-11121	yes	688.24
E-CURD-88	yes	90.32
E-HCAD-4	yes	42.79
E-CURD-122	yes	41.08
E-HCAD-11	yes	20.73
E-ANND-3	yes	18.63
E-CURD-46	yes	14.18
E-HCAD-13	yes	11.71
E-HCAD-1	yes	10.53
E-MTAB-10553	yes	8.71
E-MTAB-6386	no	89.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting CHPF, 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-4692	100.00	67.32	2066
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-6807-3P	99.15	69.23	1275
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-6760-5P	98.87	66.73	1515
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-4260	98.78	65.37	848
HSA-MIR-5572	98.55	65.84	970
HSA-MIR-5187-5P	98.54	67.94	952
HSA-MIR-6878-5P	98.49	67.91	2142
HSA-MIR-6819-5P	97.96	66.59	1071
HSA-MIR-4665-5P	97.91	67.69	1536

Literature-anchored findings (GeneRIF, showing 18)

• chondroitin polymerizing activity requires concomitant expression of a ChPF with ChSy; coexpression of the ChPF and ChSy yielded markedly augmented glycosyltransferase activities, whereas simple mixing of the two separately expressed proteins did not. (PMID:12716890)
• Chondroitin sulfate synthase-2/chondroitin polymerizing factor has two variants with distinct function (PMID:20729547)
• The present study focused on the expression of chondroitin-synthesizing enzymes in colorectal cancer. (PMID:21468578)
• study reports a novel protein named Klokin 1(a splice variant of chondroitin polymerizing factor) that transports Parkin to the mitochondria; findings indicate that mitochondrial Parkin prevents mitochondrial depolarization and that Klokin 1 may compensate for Parkin deficiency (PMID:22082830)
• CHPF was found to be differentially methylated in human squamous cell carcinomas. (PMID:22461910)
• data suggest that TGF-beta stimulated the expression of ChPF and sGAG synthesis in nucleus pulposus cells through Smad3, RhoA/ROCK1 and the three MAPK signaling pathways. (PMID:28608941)
• High CHPF expression is associated with gliomas. (PMID:28627702)
• CHPF can promote the proliferation and antiapoptosis of lung adenocarcinoma cells (PMID:30826152)
• Chondroitin polymerizing factor (CHPF) contributes to malignant proliferation and migration of hepatocellular carcinoma cells. (PMID:32383983)
• Chondroitin polymerizing factor (CHPF) promotes development of malignant melanoma through regulation of CDK1. (PMID:32612115)
• Chondroitin polymerizing factor promotes breast carcinoma cell proliferation, invasion and migration and affects expression of epithelial-mesenchymal transition-related markers. (PMID:33301643)
• Identification of chondroitin polymerizing factor (CHPF) as tumor promotor in cholangiocarcinoma through regulating cell proliferation, cell apoptosis and cell migration. (PMID:33651657)
• CHPF promotes gastric cancer tumorigenesis through the activation of E2F1. (PMID:34564711)
• Extracellular vesicles derived from hypoxic HTR-8/SVneo trophoblast inhibit endothelial cell functions through the miR-150-3p /CHPF pathway. (PMID:37156185)
• The HNF4A-CHPF pathway promotes proliferation and invasion through interactions with MAD1L1 in glioma. (PMID:37851364)
• MiR-214-3p overexpression-triggered chondroitin polymerizing factor (CHPF) inhibition modulates the ferroptosis and metabolism in colon cancer. (PMID:38190270)
• Activation of CHPF by transcription factor NFIC promotes NLRP3 activation during the progression of colorectal cancer. (PMID:38267731)
• Chondroitin polymerizing factor promotes development and progression of colorectal cancer via facilitating transcription of VEGFB. (PMID:38775031)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	chpfb	ENSDARG00000078037
danio_rerio	chpfa	ENSDARG00000078392
mus_musculus	Chpf	ENSMUSG00000032997
rattus_norvegicus	Chpf	ENSRNOG00000020038
drosophila_melanogaster	Chpf	FBGN0263005
caenorhabditis_elegans		WBGENE00003253

Paralogs (7): CHPF2 (ENSG00000033100), CHSY1 (ENSG00000131873), B4GALNT3 (ENSG00000139044), CSGALNACT1 (ENSG00000147408), CSGALNACT2 (ENSG00000169826), B4GALNT4 (ENSG00000182272), CHSY3 (ENSG00000198108)

Protein

Protein identifiers

Chondroitin sulfate synthase 2 — Q8IZ52 (reviewed: Q8IZ52)

Alternative names: Chondroitin glucuronyltransferase 2, Chondroitin-polymerizing factor, Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II, N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase II, N-acetylgalactosaminyltransferase 2

All UniProt accessions (3): A0A8I5QJC8, Q8IZ52, F8W6H2

UniProt curated annotations — full annotation on UniProt →

Function. Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Seems to act as a specific activating factor for CHSY1 in chondroitin polymerization. May facilitate PRKN transport into the mitochondria. In collaboration with PRKN, may enhance cell viability and protect cells from oxidative stress.

Subunit / interactions. Interacts with PRKN. Interacts with PRKN. Interacts with PRKN.

Subcellular location. Golgi apparatus. Golgi stack membrane. Cytoplasm. Cytosol Cytoplasm. Cytosol. Mitochondrion Mitochondrion matrix.

Tissue specificity. Ubiquitous. Highly expressed in pancreas, ovary, brain, heart, skeletal muscle, colon, kidney, liver, stomach, spleen and placenta. Expressed in brain, spleen, ovary, testis, lung and peripheral mononuclear cells. Also ubiquitous.

Cofactor. Highest activities are measured with Mn(2+). Can also utilize Co(2+).

Similarity. Belongs to the chondroitin N-acetylgalactosaminyltransferase family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IZ52-1	1	yes
Q8IZ52-2	2, Klokin1
Q8IZ52-4	3, ChPF(D996)

RefSeq proteins (2): NP_001182660, NP_078812* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008428	Chond_GalNAc	Family
IPR051227	CS_glycosyltransferase	Family

Pfam: PF05679

Enzyme classification (BRENDA):

• EC 2.4.1.175 — glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase (BRENDA: 8 organisms, 92 substrates, 7 inhibitors, 8 Km, 1 kcat entries)
• EC 2.4.1.226 — N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase (BRENDA: 6 organisms, 31 substrates, 4 inhibitors, 6 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

8 substrates with measured Km, best-characterized 8. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
UDP-N-ACETYL-BETA-D-GALACTOSAMINE	0.0059–0.05	3
UDP-GALNAC	0.221–9.275	2
UDP-GLUCURONIC ACID	0.051–0.0824	2
CHONDROITIN SULFATE CS-11	0.36	1
UDP-N-ACETYL-ALPHA-D-GLUCOSAMINE	0.0059	1
C11-OLIGOSACCHARIDE OF CHONDROITIN SULFATE A	0.027	1
CHONDROITIN SULFATE UNDECASACCHARIDE	0.0653	1
UDP-ALPHA-D-GLUCURONATE	0.263	1

Catalyzed reactions (Rhea), 4 shown:

• 3-O-(beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-(beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP + H(+) (RHEA:20800)
• 3-O-(beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP + H(+) (RHEA:23428)
• 3-O-{beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-{beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP + H(+) (RHEA:54996)
• 3-O-{beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-{beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP + H(+) (RHEA:55000)

UniProt features (13 total): topological domain 2, splice variant 2, glycosylation site 2, chain 1, sequence variant 1, sequence conflict 1, transmembrane region 1, region of interest 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
9Q8Z	ELECTRON MICROSCOPY	3
9O4G	ELECTRON MICROSCOPY	3.42

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IZ52-F1	85.57	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 (1): 617

Glycosylation sites (2): 138, 361

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2022870	CS-GAG biosynthesis

MSigDB gene sets: 170 (showing top): MODULE_52, MODULE_151, CREBP1_Q2, CAGCTG_AP4_Q5, SP1_Q2_01, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, CREB_Q4, GOBP_CHONDROITIN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS, MODULE_118, MODULE_239, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, TGCTGAY_UNKNOWN, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GGARNTKYCCA_UNKNOWN, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN

GO Biological Process (1): chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)

GO Molecular Function (8): metal ion binding (GO:0046872), glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238), N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510), UDP-glycosyltransferase activity (GO:0008194), acetylgalactosaminyltransferase activity (GO:0008376), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), hexosyltransferase activity (GO:0016758)

GO Cellular Component (8): Golgi membrane (GO:0000139), mitochondrial matrix (GO:0005759), cytosol (GO:0005829), Golgi cisterna membrane (GO:0032580), cytoplasm (GO:0005737), mitochondrion (GO:0005739), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Chondroitin sulfate/dermatan sulfate metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
cellular anatomical structure	3
glycosyltransferase activity	2
intracellular membrane-bounded organelle	2
proteoglycan biosynthetic process	1
chondroitin sulfate proteoglycan metabolic process	1
protein O-linked glycosylation via xylose	1
cation binding	1
acetylgalactosaminyltransferase activity	1
glucuronosyltransferase activity	1
UDP-glycosyltransferase activity	1
hexosyltransferase activity	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
mitochondrion	1
intracellular organelle lumen	1
organelle membrane	1
Golgi cisterna	1
intracellular anatomical structure	1
endomembrane system	1

Protein interactions and networks

STRING

722 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHPF	CHSY1	Q86X52	899
CHPF	B4GALNT1	Q00973	872
CHPF	CHPF2	Q9P2E5	675
CHPF	THBD	P07204	657
CHPF	GALNT2	Q10471	656
CHPF	B3GAT3	O94766	645
CHPF	CSGALNACT1	Q8TDX6	610
CHPF	CHST15	Q7LFX5	605
CHPF	CHST13	Q8NET6	598
CHPF	CHST12	Q9NRB3	598
CHPF	CHST3	Q7LGC8	595
CHPF	CSGALNACT2	Q8N6G5	594
CHPF	B4GALT7	Q9UBV7	590
CHPF	XYLT1	Q86Y38	590
CHPF	CHST14	Q8NCH0	545

IntAct

47 interactions, top by confidence:

A	B	Type	Score
B3GNT3	PGRMC1	psi-mi:“MI:0914”(association)	0.670
	PLOD2	psi-mi:“MI:0914”(association)	0.530
CHPF	BTRC	psi-mi:“MI:0915”(physical association)	0.370
CHPF	ARHGEF5	psi-mi:“MI:0915”(physical association)	0.370
SPG11	CHPF	psi-mi:“MI:0915”(physical association)	0.370
CHPF	SKIL	psi-mi:“MI:0915”(physical association)	0.370
SMAD9	CHPF	psi-mi:“MI:0915”(physical association)	0.370
	CHPF	psi-mi:“MI:0915”(physical association)	0.370
	ESYT2	psi-mi:“MI:0914”(association)	0.350
	HAX1	psi-mi:“MI:0914”(association)	0.350
BGLF3.5	SEC16A	psi-mi:“MI:0914”(association)	0.350
ORF47	ZZEF1	psi-mi:“MI:0914”(association)	0.350
TRADD	HNRNPCL2	psi-mi:“MI:0914”(association)	0.350
RHOA	PPP6C	psi-mi:“MI:0914”(association)	0.350
E	SPTLC2	psi-mi:“MI:0914”(association)	0.350
TESK2	ILVBL	psi-mi:“MI:0914”(association)	0.350
LLCFC1	POTEF	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
SLC39A12		psi-mi:“MI:0914”(association)	0.350
GPIHBP1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
HPN	TOR1A	psi-mi:“MI:0914”(association)	0.350
TRAV20	MAP2K7	psi-mi:“MI:0914”(association)	0.350
PTCH1	PLXNB2	psi-mi:“MI:0914”(association)	0.350
GGH	MANBA	psi-mi:“MI:0914”(association)	0.350
CHSY3	LRP5	psi-mi:“MI:0914”(association)	0.350
NIPAL3	ILVBL	psi-mi:“MI:0914”(association)	0.350
SLC1A3	DDX11L8	psi-mi:“MI:0914”(association)	0.350
SLC22A11	CNOT1	psi-mi:“MI:0914”(association)	0.350
SLC30A5	NBAS	psi-mi:“MI:0914”(association)	0.350

BioGRID (66): CHPF (Affinity Capture-MS), TRIP11 (Affinity Capture-MS), MED4 (Affinity Capture-MS), CHPF (Affinity Capture-RNA), CHPF (Affinity Capture-MS), CHPF (Affinity Capture-MS), CHPF (Protein-RNA), CHPF (Affinity Capture-MS), CHPF (Affinity Capture-MS), CHPF (Affinity Capture-MS), CHPF (Affinity Capture-MS), CHPF (Affinity Capture-MS), CHPF (Affinity Capture-MS), CHPF (Affinity Capture-MS), CHPF (Affinity Capture-MS)

ESM2 similar proteins: A2A9Q0, A5PKD8, A9JSM3, D4A2Q0, E7ERA6, F1SAM7, F2Z333, P0CG25, Q07303, Q0IIA6, Q1RMK9, Q24JP5, Q2MJR0, Q2WF71, Q3MIP1, Q3UV16, Q3ZCQ3, Q504Y2, Q5EBM0, Q5GH56, Q5GH64, Q5GH72, Q5RJI4, Q5SZI1, Q641Q3, Q6IEE6, Q6IQX7, Q6P6N5, Q6UKI2, Q6ZMC9, Q6ZVW7, Q86UD0, Q8IUW3, Q8IZ52, Q8K064, Q8N4K4, Q8NAC3, Q8NBR0, Q8NCL9, Q8NFR9

Diamond homologs: Q6IQX7, Q8IZ52, Q9P2E5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	123
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

468 predictions. Top by Δscore:

Variant	Effect	Δscore
2:219540641:CA:C	acceptor_gain	1.0000
2:219540643:C:CC	acceptor_gain	1.0000
2:219541121:ACCCC:A	acceptor_gain	1.0000
2:219541122:CCCC:C	acceptor_gain	1.0000
2:219541122:CCCCC:C	acceptor_gain	1.0000
2:219541123:CCC:C	acceptor_gain	1.0000
2:219541123:CCCC:C	acceptor_gain	1.0000
2:219541124:CC:C	acceptor_gain	1.0000
2:219541124:CCC:C	acceptor_gain	1.0000
2:219541125:CC:C	acceptor_gain	1.0000
2:219541127:T:A	acceptor_loss	1.0000
2:219541607:T:C	donor_gain	1.0000
2:219541688:A:AC	donor_gain	1.0000
2:219541689:C:CC	donor_gain	1.0000
2:219542187:GTC:G	acceptor_gain	1.0000
2:219542188:TC:T	acceptor_gain	1.0000
2:219542189:CC:C	acceptor_gain	1.0000
2:219542189:CCT:C	acceptor_loss	1.0000
2:219542190:C:CC	acceptor_gain	1.0000
2:219540638:TCCCA:T	acceptor_gain	0.9900
2:219540639:CCCA:C	acceptor_gain	0.9900
2:219540639:CCCAC:C	acceptor_gain	0.9900
2:219540640:CCA:C	acceptor_gain	0.9900
2:219540640:CCAC:C	acceptor_gain	0.9900
2:219540641:CAC:C	acceptor_gain	0.9900
2:219540642:ACTGG:A	acceptor_loss	0.9900
2:219540643:C:CG	acceptor_loss	0.9900
2:219540644:T:C	acceptor_loss	0.9900
2:219540649:C:CT	acceptor_gain	0.9900
2:219540940:CCATA:C	donor_loss	0.9900

AlphaMissense

4914 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:219541632:C:G	C291S	0.999
2:219541633:A:T	C291S	0.999
2:219543458:G:C	S27R	0.999
2:219543458:G:T	S27R	0.999
2:219543460:T:G	S27R	0.999
2:219543471:C:T	G23D	0.999
2:219543472:C:G	G23R	0.999
2:219543483:C:T	G19D	0.999
2:219539827:G:C	C628W	0.998
2:219541632:C:T	C291Y	0.998
2:219541659:C:G	C282S	0.998
2:219541660:A:T	C282S	0.998
2:219541761:C:T	G248E	0.998
2:219541762:C:A	G248W	0.998
2:219541775:G:C	C243W	0.998
2:219541776:C:G	C243S	0.998
2:219541776:C:T	C243Y	0.998
2:219541777:A:T	C243S	0.998
2:219543484:C:G	G19R	0.998
2:219539678:C:T	C678Y	0.997
2:219539789:G:T	P641H	0.997
2:219539828:C:T	C628Y	0.997
2:219540529:C:A	W394C	0.997
2:219540529:C:G	W394C	0.997
2:219541631:G:C	C291W	0.997
2:219541633:A:G	C291R	0.997
2:219541659:C:T	C282Y	0.997
2:219541660:A:G	C282R	0.997
2:219541666:C:A	G280C	0.997
2:219541670:C:A	W278C	0.997

dbSNP variants (sampled 300 via entrez): RS1000457868 (2:219544407 G>T), RS1001738725 (2:219544056 C>T), RS1002212562 (2:219540330 T>C,G), RS1002483823 (2:219542673 G>A), RS1003686159 (2:219542784 T>C), RS1003779476 (2:219543045 G>C), RS1004248910 (2:219541273 G>T), RS1005254502 (2:219542742 C>A,T), RS1006281249 (2:219538534 C>G), RS1006374546 (2:219538846 C>G,T), RS1006674130 (2:219543900 G>GC), RS1007827606 (2:219538770 G>A), RS1008214339 (2:219545301 C>T), RS1009161281 (2:219545253 GC>G), RS1009464728 (2:219542712 G>A)

Disease associations

OMIM: gene MIM:610405 | 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

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects cotreatment, decreases expression	3
Cyclosporine	decreases expression, increases expression	3
Benzo(a)pyrene	increases methylation, decreases expression	2
Valproic Acid	increases expression, increases methylation	2
bisphenol F	increases methylation, affects cotreatment	1
lead acetate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
MT19c compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Air Pollutants	increases expression, increases abundance	1
Atrazine	increases expression	1
Calcitriol	increases expression, affects cotreatment	1
Cisplatin	increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diethylstilbestrol	decreases expression	1
Doxorubicin	increases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Quercetin	increases expression	1
Selenium	affects cotreatment, decreases expression, increases expression	1
Dihydrotestosterone	increases expression	1
T-2 Toxin	decreases expression	1
Testosterone	affects cotreatment, increases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tunicamycin	increases expression	1

Clinical trials (associated diseases)

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