NCAPG

Summary

NCAPG (non-SMC condensin I complex subunit G, HGNC:24304) is a protein-coding gene on chromosome 4p15.31, encoding Condensin complex subunit 3 (Q9BPX3). Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. It is a common-essential gene (DepMap: required in 99.6% of cancer cell lines).

This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 64151 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 129 total
• Cancer dependency (DepMap): dependent in 99.6% of screened cell lines (common-essential)
• MANE Select transcript: NM_022346

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24304
Approved symbol	NCAPG
Name	non-SMC condensin I complex subunit G
Location	4p15.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12450, hCAP-G, CAP-G, YCG1
Ensembl gene	ENSG00000109805
Ensembl biotype	protein_coding
OMIM	606280
Entrez	64151

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000251496, ENST00000509719, ENST00000510063, ENST00000513226, ENST00000514176, ENST00000884027, ENST00000884028, ENST00000884029, ENST00000938377, ENST00000938378, ENST00000938379, ENST00000938380, ENST00000938381, ENST00000938382, ENST00000938383

RefSeq mRNA: 1 — MANE Select: NM_022346 NM_022346

CCDS: CCDS3424

Canonical transcript exons

ENST00000251496 — 21 exons

Exon	Start	End
ENSE00000706674	17812917	17813145
ENSE00000706677	17814853	17814998
ENSE00000706681	17815274	17815358
ENSE00000706695	17823647	17823770
ENSE00000799270	17810979	17811188
ENSE00001213112	17843302	17844865
ENSE00003470096	17828278	17828388
ENSE00003493312	17824968	17825057
ENSE00003505338	17837159	17837340
ENSE00003511536	17817939	17818088
ENSE00003514004	17839676	17839837
ENSE00003516658	17822983	17823123
ENSE00003521286	17812221	17812424
ENSE00003551082	17840607	17840693
ENSE00003574417	17825382	17825561
ENSE00003596797	17840071	17840209
ENSE00003661067	17837627	17837801
ENSE00003664194	17830997	17831116
ENSE00003680166	17834299	17834523
ENSE00003688827	17817261	17817453
ENSE00003689614	17842310	17842379

Expression profiles

Bgee: expression breadth ubiquitous, 229 present calls, max score 96.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.3206 / max 432.6813, expressed in 1446 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47045	24.0015	1442
47044	0.3192	175

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	96.98	gold quality
embryo	UBERON:0000922	93.34	gold quality
ganglionic eminence	UBERON:0004023	93.03	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.34	gold quality
trabecular bone tissue	UBERON:0002483	92.17	gold quality
sperm	CL:0000019	90.86	gold quality
bone marrow	UBERON:0002371	88.37	gold quality
male germ cell	CL:0000015	88.19	gold quality
gingival epithelium	UBERON:0001949	86.54	gold quality
tongue squamous epithelium	UBERON:0006919	85.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.93	gold quality
cervix squamous epithelium	UBERON:0006922	84.90	gold quality
amniotic fluid	UBERON:0000173	84.87	gold quality
gingiva	UBERON:0001828	84.41	gold quality
cortical plate	UBERON:0005343	84.14	gold quality
secondary oocyte	CL:0000655	82.69	gold quality
oral cavity	UBERON:0000167	81.18	gold quality
stromal cell of endometrium	CL:0002255	81.01	gold quality
bone marrow cell	CL:0002092	80.98	gold quality
squamous epithelium	UBERON:0006914	80.76	gold quality
oocyte	CL:0000023	80.53	gold quality
adrenal tissue	UBERON:0018303	80.06	gold quality
vermiform appendix	UBERON:0001154	79.33	gold quality
cartilage tissue	UBERON:0002418	79.31	gold quality
right testis	UBERON:0004534	78.84	gold quality
testis	UBERON:0000473	78.42	gold quality
mucosa of sigmoid colon	UBERON:0004993	78.08	gold quality
left testis	UBERON:0004533	77.82	gold quality
mucosa of transverse colon	UBERON:0004991	77.64	gold quality
buccal mucosa cell	CL:0002336	77.49	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6379	yes	406.34
E-GEOD-124858	yes	298.83
E-MTAB-6075	yes	124.05
E-ANND-3	yes	5.32

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TCF7L2

miRNA regulators (miRDB)

82 targeting NCAPG, 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-9-5P	100.00	72.28	2361
HSA-MIR-126-5P	100.00	72.71	3180
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4804-3P	99.65	67.78	866
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-1287-3P	99.63	66.93	492
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-497-3P	99.61	69.71	1990

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.6% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 26)

• Mutation of threonines 308 and 322 to alanines results in defects in CAP-G localization with chromosomes during mitosis. (PMID:18977199)
• Data indicate that three genes, KIF14, NCAPG and CENPE that were upregulated in Pediatric high-grade gliomas (pHGGs) and were direct miR-137 or miR-6500-3p targets. (PMID:26933822)
• this study demonstrates that NCAPG plays an important role in the development and progression of hepatocellular carcinoma (HCC), and that it may be a novel therapeutic target for patients with HCC. (PMID:28737823)
• NCAPG was regulated by miR-99a-3p, and its overexpression was involved in castration-resistant prostate cancer pathogenesis. (PMID:29608247)
• NCAPG might play an oncogenic role in the development of liver cancer. (PMID:30089216)
• NCAPG as an essential oncogene for hepatocellular carcinoma tumor growth. (PMID:31022357)
• Novel key genes in triple-negative breast cancer identified by weighted gene co-expression network analysis. (PMID:31081967)
• NCAPG confers trastuzumab resistance via activating SRC/STAT3 signaling pathway in HER2-positive breast cancer. (PMID:32683421)
• Overexpression of NCAPG inhibits cardia adenocarcinoma apoptosis and promotes epithelial-mesenchymal transition through the Wnt/beta-catenin signaling pathway. (PMID:32980450)
• Propofol Represses Cell Growth and Metastasis by Modulating the Circular RNA Non-SMC Condensin I Complex Subunit G/MicroRNA-200a-3p/RAB5A Axis in Glioma. (PMID:34129971)
• Inhibition of NCAPG expression inactivates the Wnt/beta-catenin signal to suppresses endometrial cancer cell growth in vitro. (PMID:34480403)
• NCAPG, mediated by miR-378a-3p, regulates cell proliferation, cell cycle progression, and apoptosis of oral squamous cell carcinoma through the GSK-3beta/beta-catenin signaling. (PMID:34585587)
• NCAPG is a prognostic biomarker associated with vascular invasion in hepatocellular carcinoma. (PMID:34919223)
• NCAPG promotes the oncogenesis and progression of non-small cell lung cancer cells through upregulating LGALS1 expression. (PMID:35180865)
• NCAPG is a prognostic biomarker of immune infiltration in non-small-cell lung cancer. (PMID:35199566)
• Increased expression of NCAPG (Non-SMC condensing I complex subunit G) is associated with progression and poor prognosis of lung adenocarcinoma. (PMID:35254214)
• NCAPG Promotes the Proliferation of Renal Clear Cell Carcinoma via Mediating with CDK1. (PMID:35601741)
• NCAPG promotes tumorigenesis of bladder cancer through NF-kappaB signaling pathway. (PMID:35843088)
• Overexpression of NCAPG in ovarian cancer is associated with ovarian cancer proliferation and apoptosis via p38 MAPK signaling pathway. (PMID:35986371)
• The role of NCAPG in various of tumors. (PMID:36095957)
• NCAPG Promotes Pulmonary Artery Smooth Muscle Cell Proliferation as a Promising Therapeutic Target of Idiopathic Pulmonary Hypertension: Bioinformatics Analysis and Experiment Verification. (PMID:36233060)
• The U2AF65/circNCAPG/RREB1 feedback loop promotes malignant phenotypes of glioma stem cells through activating the TGF-beta pathway. (PMID:36635261)
• NCAPG as a novel prognostic biomarker in numerous cancers: a meta-analysis and bioinformatics analysis. (PMID:36996493)
• The Diagnostic and Therapeutic Value of NCAPG as a Proposed Biomarker Candidate in Acute Liver Failure. (PMID:37066775)
• Galectin-1-mediated high NCAPG expression correlates with poor prognosis in gastric cancer. (PMID:37335105)
• Reduced miR-99a-3p levels in systemic lupus erythematosus may promote B cell proliferation via NCAPG and the PI3K/AKT signaling pathway. (PMID:38320572)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ncapg	ENSDARG00000070109
mus_musculus	Ncapg	ENSMUSG00000015880
rattus_norvegicus	Ncapg	ENSRNOG00000038572
drosophila_melanogaster	Cap-G	FBGN0259876

Protein

Protein identifiers

Condensin complex subunit 3 — Q9BPX3 (reviewed: Q9BPX3)

Alternative names: Chromosome-associated protein G, Condensin subunit CAP-G, Melanoma antigen NY-MEL-3, Non-SMC condensin I complex subunit G, XCAP-G homolog

All UniProt accessions (3): Q9BPX3, D6RA93, H0Y9Z8

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.

Subunit / interactions. Component of the condensin complex, which contains the SMC2 and SMC4 heterodimer, and three non SMC subunits that probably regulate the complex: NCAPH/BRRN1, NCAPD2/CAPD2 and NCAPG.

Subcellular location. Nucleus. Cytoplasm. Chromosome.

Tissue specificity. Highly expressed in testis.

Post-translational modifications. Phosphorylated by CDK1. Its phosphorylation, as well as that of NCAPD2 and NCAPH subunits, activates the condensin complex and is required for chromosome condensation.

Miscellaneous. Overexpressed in some cancer lines and some tumor cells.

Similarity. Belongs to the CND3 (condensin subunit 3) family.

RefSeq proteins (1): NP_071741* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR025977	Cnd3_C	Domain
IPR027165	CND3	Family

Pfam: PF12719

UniProt features (91 total): helix 50, repeat 10, sequence conflict 8, modified residue 7, strand 6, sequence variant 3, turn 3, compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6IGX	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BPX3-F1	82.60	0.64

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): 390, 674, 931, 973, 975, 1002, 1015

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2514853	Condensation of Prometaphase Chromosomes

MSigDB gene sets: 277 (showing top): GOBP_CHROMOSOME_ORGANIZATION, WU_APOPTOSIS_BY_CDKN1A_VIA_TP53, HORIUCHI_WTAP_TARGETS_DN, KANG_DOXORUBICIN_RESISTANCE_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, KOINUMA_COLON_CANCER_MSI_UP, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOBP_CHROMOSOME_SEPARATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, KONG_E2F3_TARGETS, GOBP_CHROMOSOME_CONDENSATION, GOBP_ORGANELLE_FISSION, GOBP_REGULATION_OF_CHROMOSOME_SEGREGATION, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_REGULATION_OF_CELL_CYCLE

GO Biological Process (6): mitotic chromosome condensation (GO:0007076), cell division (GO:0051301), positive regulation of chromosome segregation (GO:0051984), positive regulation of chromosome separation (GO:1905820), positive regulation of chromosome condensation (GO:1905821), chromosome condensation (GO:0030261)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (9): condensed chromosome, centromeric region (GO:0000779), condensed chromosome (GO:0000793), condensed nuclear chromosome (GO:0000794), condensin complex (GO:0000796), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Mitotic Prometaphase	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
chromosome condensation	2
positive regulation of cell cycle process	2
condensed chromosome	2
chromosome	2
mitotic sister chromatid segregation	1
mitotic cell cycle	1
mitotic cell cycle process	1
cellular process	1
chromosome segregation	1
regulation of chromosome segregation	1
chromosome separation	1
regulation of chromosome separation	1
regulation of chromosome condensation	1
positive regulation of chromosome organization	1
chromosome organization	1
binding	1
chromosome, centromeric region	1
nuclear chromosome	1
nucleus	1
protein-containing complex	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

2032 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NCAPG	NCAPH	Q15003	996
NCAPG	SMC4	Q9NTJ3	996
NCAPG	NCAPD2	Q15021	995
NCAPG	RAB38	P57729	927
NCAPG	POU3F3	P20264	916
NCAPG	SMC2	O95347	874
NCAPG	LCORL	Q8N3X6	860
NCAPG	NCAPD3	P42695	817
NCAPG	RAD21	O60216	784
NCAPG	TOP2A	P11388	781
NCAPG	BUB1	O43683	757
NCAPG	FAM184B	Q9ULE4	747
NCAPG	KIF20A	O95235	746
NCAPG	CCNB2	O95067	743
NCAPG	CDC20	Q12834	738

IntAct

126 interactions, top by confidence:

A	B	Type	Score
ARPC1A	ARPC2	psi-mi:“MI:0914”(association)	0.900
MED4	MED19	psi-mi:“MI:0914”(association)	0.900
MED20	MED19	psi-mi:“MI:0914”(association)	0.840
NCAPH	NCAPG	psi-mi:“MI:0915”(physical association)	0.780
NCAPG	NCAPH	psi-mi:“MI:0915”(physical association)	0.780
NCAPH	NCAPD2	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
TNFSF13B	IPO8	psi-mi:“MI:0914”(association)	0.640
B3GAT3	GOLIM4	psi-mi:“MI:0914”(association)	0.640
PDGFRB	PIK3R2	psi-mi:“MI:0914”(association)	0.610
NCAPG	ARRDC1	psi-mi:“MI:0915”(physical association)	0.560
NCAPG	ARRDC1	psi-mi:“MI:0914”(association)	0.560
NCAPG	NCAPD2	psi-mi:“MI:0915”(physical association)	0.560
C3AR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
MAS1	POTEF	psi-mi:“MI:0914”(association)	0.530
FZD10	NRP1	psi-mi:“MI:0914”(association)	0.530
BMP1	TLL1	psi-mi:“MI:0914”(association)	0.530
DPEP1	ILVBL	psi-mi:“MI:0914”(association)	0.530

BioGRID (290): NCAPG (Affinity Capture-MS), NCAPG (Affinity Capture-MS), NCAPG (Affinity Capture-MS), NCAPG (Affinity Capture-MS), NCAPG (Affinity Capture-MS), ARRDC1 (Affinity Capture-MS), NCAPG (Affinity Capture-MS), NCAPG (Co-fractionation), NCAPH (Co-fractionation), SMC2 (Co-fractionation), SMC4 (Co-fractionation), NCAPG (Affinity Capture-MS), NCAPG (Affinity Capture-MS), NCAPG (Affinity Capture-MS), NCAPG (Affinity Capture-MS)

ESM2 similar proteins: A0JMW2, A2VE70, A5WW24, A7E2Y6, B9EJR8, E0CZ22, E1BP36, E7FBU4, O35638, O43156, O70576, O75155, Q08AM6, Q0P5A6, Q0V9L1, Q16401, Q5IFJ8, Q5JTH9, Q5R6L5, Q5ZIW5, Q5ZKD5, Q66L58, Q68F38, Q6DCF2, Q6P5B0, Q6ZQ73, Q7TMY7, Q80W92, Q80WQ2, Q84ZC0, Q86Y56, Q8C0Y0, Q8K2V6, Q8NDA8, Q8WVM7, Q91V83, Q96T76, Q99M76, Q9BPX3, Q9D071

Diamond homologs: Q9BPX3, Q9YHB5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NCAPG	“form complex”	“Condensin I”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	104
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3040 predictions. Top by Δscore:

Variant	Effect	Δscore
4:17811189:G:GG	donor_gain	1.0000
4:17812362:G:GT	donor_gain	1.0000
4:17812374:G:GT	donor_gain	1.0000
4:17812380:G:GT	donor_gain	1.0000
4:17812915:A:AG	acceptor_gain	1.0000
4:17812916:G:GA	acceptor_gain	1.0000
4:17812916:GTCTC:G	acceptor_gain	1.0000
4:17812981:G:GT	donor_gain	1.0000
4:17813121:G:GT	donor_gain	1.0000
4:17814419:G:GT	donor_gain	1.0000
4:17814849:TTAGC:T	acceptor_loss	1.0000
4:17814851:A:AG	acceptor_gain	1.0000
4:17814851:A:C	acceptor_loss	1.0000
4:17814852:G:GA	acceptor_gain	1.0000
4:17814852:G:T	acceptor_loss	1.0000
4:17814852:GC:G	acceptor_gain	1.0000
4:17814852:GCA:G	acceptor_gain	1.0000
4:17814852:GCAT:G	acceptor_gain	1.0000
4:17814852:GCATA:G	acceptor_gain	1.0000
4:17822981:A:AG	acceptor_gain	1.0000
4:17822982:G:GA	acceptor_gain	1.0000
4:17822982:GT:G	acceptor_gain	1.0000
4:17822982:GTT:G	acceptor_gain	1.0000
4:17822982:GTTA:G	acceptor_gain	1.0000
4:17822982:GTTAC:G	acceptor_gain	1.0000
4:17823119:GGAAG:G	donor_gain	1.0000
4:17823120:G:GT	donor_gain	1.0000
4:17823121:A:T	donor_gain	1.0000
4:17823122:AGGT:A	donor_loss	1.0000
4:17823123:GGT:G	donor_loss	1.0000

AlphaMissense

6677 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:17813085:G:C	A162P	0.997
4:17817302:T:A	W273R	0.997
4:17817302:T:C	W273R	0.997
4:17813058:G:C	D153H	0.993
4:17813077:G:C	R159T	0.993
4:17814982:G:C	R225T	0.993
4:17812945:G:C	R115T	0.992
4:17812956:T:C	C119R	0.992
4:17812958:C:G	C119W	0.992
4:17813078:A:C	R159S	0.992
4:17813078:A:T	R159S	0.992
4:17814983:A:C	R225S	0.992
4:17814983:A:T	R225S	0.992
4:17814896:A:C	R196S	0.991
4:17814896:A:T	R196S	0.991
4:17814982:G:T	R225I	0.991
4:17812946:A:C	R115S	0.990
4:17812946:A:T	R115S	0.990
4:17814892:T:A	V195D	0.990
4:17814895:G:C	R196T	0.990
4:17814963:G:C	D219H	0.990
4:17837328:C:A	A760D	0.990
4:17813086:C:A	A162E	0.989
4:17814991:C:A	A228D	0.989
4:17813074:T:A	V158E	0.988
4:17813077:G:T	R159I	0.988
4:17815321:A:C	R246S	0.988
4:17815321:A:T	R246S	0.988
4:17814898:G:C	R197P	0.987
4:17814900:G:C	A198P	0.987

dbSNP variants (sampled 300 via entrez): RS1000271043 (4:17839139 G>A), RS1000308888 (4:17811378 A>G), RS1000326272 (4:17831513 A>T), RS1000433897 (4:17842909 T>G), RS1000508162 (4:17824954 C>T), RS1000687951 (4:17816489 G>A), RS1000767303 (4:17844288 A>G), RS1000798429 (4:17843950 A>ACTT), RS1001050975 (4:17830721 A>G), RS1001828258 (4:17838302 T>C), RS1001867148 (4:17832089 A>G), RS1001958605 (4:17812360 T>C), RS1001961754 (4:17824475 C>G,T), RS1002015489 (4:17824027 T>C), RS1002055342 (4:17845319 C>T)

Disease associations

OMIM: gene MIM:606280 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000175_39	Height	1.000000e-10
GCST000611_25	Height	8.000000e-15
GCST002702_44	Height	2.000000e-40
GCST007293_20	Body fat distribution (arm fat ratio)	7.000000e-12
GCST007294_10	Body fat distribution (trunk fat ratio)	1.000000e-12
GCST007294_29	Body fat distribution (trunk fat ratio)	4.000000e-09
GCST007295_160	Body fat distribution (leg fat ratio)	7.000000e-08
GCST007295_51	Body fat distribution (leg fat ratio)	3.000000e-06
GCST009391_322	Metabolite levels	6.000000e-06
GCST90016668_5	Lung volume	1.000000e-09
GCST90020028_1964	Hip circumference adjusted for BMI	1.000000e-11
GCST90090967_18	Height	7.000000e-12

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004341	body fat distribution
EFO:0010431	triacylglycerol 56:4 measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation	4
bisphenol A	increases expression, affects expression, decreases expression	3
sodium arsenite	increases expression, decreases expression, increases abundance	3
Cyclosporine	decreases expression	3
perfluorooctanoic acid	decreases expression	2
Acetaminophen	decreases expression, increases expression	2
Benzo(a)pyrene	decreases expression, increases expression	2
Coumestrol	affects cotreatment, increases expression, affects reaction	2
Doxorubicin	decreases expression, affects response to substance	2
Progesterone	decreases expression, increases expression	2
Rotenone	decreases expression	2
Tetrachlorodibenzodioxin	affects expression, decreases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
Genistein	increases expression, affects expression	2
aristolochic acid I	decreases expression	1
afuresertib	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
titanium dioxide	decreases expression	1
butyraldehyde	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	increases expression, affects cotreatment	1
coumarin	decreases phosphorylation	1
beta-methylcholine	affects expression	1
phenethyl isothiocyanate	decreases expression	1
2,3-dimethoxy-1,4-naphthoquinone	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
K 7174	decreases expression	1
scriptaid	affects expression	1

Clinical trials (associated diseases)

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