RGCC

Summary

RGCC (regulator of cell cycle, HGNC:20369) is a protein-coding gene on chromosome 13q14.11, encoding Regulator of cell cycle RGCC (Q9H4X1). Modulates the activity of cell cycle-specific kinases.

This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate or suppress cell cycle progression.

Source: NCBI Gene 28984 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 23 total
• MANE Select transcript: NM_014059

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20369
Approved symbol	RGCC
Name	regulator of cell cycle
Location	13q14.11
Locus type	gene with protein product
Status	Approved
Aliases	bA157L14.2, RGC-32, RGC32
Ensembl gene	ENSG00000102760
Ensembl biotype	protein_coding
OMIM	610077
Entrez	28984

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000379359, ENST00000487837, ENST00000888694, ENST00000888695, ENST00000888696, ENST00000888697

RefSeq mRNA: 1 — MANE Select: NM_014059 NM_014059

CCDS: CCDS41880

Canonical transcript exons

ENST00000379359 — 5 exons

Exon	Start	End
ENSE00000681017	41468776	41468838
ENSE00001374226	41458285	41458470
ENSE00001480642	41470478	41470871
ENSE00001480647	41457550	41457756
ENSE00003558877	41466823	41466930

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 99.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.5707 / max 3287.3330, expressed in 1425 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
134842	48.2720	1396
134841	3.0319	663
134845	0.1677	97
134844	0.0991	47

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
decidua	UBERON:0002450	99.90	gold quality
right lung	UBERON:0002167	99.84	gold quality
upper lobe of left lung	UBERON:0008952	99.68	gold quality
upper lobe of lung	UBERON:0008948	99.67	gold quality
lower lobe of lung	UBERON:0008949	99.67	gold quality
parotid gland	UBERON:0001831	99.63	gold quality
olfactory bulb	UBERON:0002264	99.35	gold quality
lung	UBERON:0002048	99.31	gold quality
tibial nerve	UBERON:0001323	99.13	gold quality
synovial joint	UBERON:0002217	99.04	gold quality
amniotic fluid	UBERON:0000173	98.99	gold quality
adult organism	UBERON:0007023	98.97	gold quality
trabecular bone tissue	UBERON:0002483	98.86	gold quality
inferior vagus X ganglion	UBERON:0005363	98.71	gold quality
trigeminal ganglion	UBERON:0001675	98.69	gold quality
lateral globus pallidus	UBERON:0002476	98.56	gold quality
adipose tissue of abdominal region	UBERON:0007808	98.39	gold quality
omental fat pad	UBERON:0010414	98.39	gold quality
dorsal root ganglion	UBERON:0000044	98.35	gold quality
corpus callosum	UBERON:0002336	98.34	gold quality
peritoneum	UBERON:0002358	98.34	gold quality
inferior olivary complex	UBERON:0002127	98.24	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.13	gold quality
visceral pleura	UBERON:0002401	98.10	gold quality
adipose tissue	UBERON:0001013	98.09	gold quality
subthalamic nucleus	UBERON:0001906	98.04	gold quality
putamen	UBERON:0001874	98.01	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.00	gold quality
right lobe of thyroid gland	UBERON:0001119	97.99	gold quality
trachea	UBERON:0003126	97.99	gold quality

Single-cell (SCXA)

Detected in 23 experiment(s), a significant marker in 22.

Experiment	Marker?	Max mean expression
E-GEOD-106540	yes	2539.19
E-MTAB-10137	yes	2035.27
E-MTAB-5061	yes	1316.70
E-MTAB-9154	yes	1114.51
E-MTAB-8894	yes	870.64
E-MTAB-7381	yes	388.91
E-MTAB-9467	yes	78.76
E-HCAD-4	yes	57.39
E-CURD-88	yes	43.14
E-GEOD-135922	yes	31.68
E-MTAB-10042	yes	31.22
E-MTAB-8410	yes	27.74
E-HCAD-1	yes	25.12
E-CURD-122	yes	24.82
E-HCAD-13	yes	23.69

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
FN1	Activation

Upstream regulators (CollecTRI, top): ETV4, HIF1A, PGR, RUNX1, SMAD2, SMAD3, SMAD4, STAT3, TP53, VEGFA

miRNA regulators (miRDB)

35 targeting RGCC, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-190A-3P	100.00	80.35	5520
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-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-325	99.58	66.55	358
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-410-3P	99.27	69.98	2457
HSA-MIR-29A-5P	99.08	68.59	1813
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-2276-3P	98.76	67.75	1384
HSA-MIR-26B-3P	98.71	67.49	1102
HSA-MIR-6867-3P	98.12	66.07	1305
HSA-MIR-4446-3P	97.91	64.29	991

Literature-anchored findings (GeneRIF, showing 27)

• RGC-32 overexpression might be part of the deregulation of the cell cycle that is required for the growth of tumor cells (PMID:15713436)
• Endogenous p53 protein binds to the promoter region of the RGC32 gene, implying p53-dependent transcriptional activity. (PMID:17146433)
• Spacial/temporal-specific expression of Rgc32 in the ovary and expression in granulosa cells. (PMID:18308847)
• RGC-32 plays a critical role in TGF-beta-induced epithelial-mesenchymal transition of renal tubular cells (PMID:19158077)
• Cell cycle induction by C5b-9 in aortic endothelial cells is RGC-32 dependent and this is in part through regulation of Akt and growth factor release. (PMID:19162005)
• RGC-32 plays an important homeostatic role in that it contributes to differentiating the pathways for vascular endothelial growth factor and fibroblast growth factor 2 in angiogenesis and provides a new target for ischemic disorder and tumor therapies. (PMID:19652095)
• RGC-32 may contribute to the development of colon cancer by regulating chromatin assembly. (PMID:19883641)
• methylation-associated down-regulation of RGC32 plays an important role in the pathogenesis of NSCLC, particularly in females (PMID:20862745)
• Data demonstrate that RGC-32 interacts with Smad3 to mediate the epithelial-mesenchymal transition of human renal proximal tubular cells. (PMID:21307346)
• analysis of upregulation of the cell-cycle regulator RGC-32 in Epstein-Barr virus-immortalized cells, due to transcriptional activation by high levels of the differentially expressed RUNX1c transcription factor (PMID:22163048)
• data suggest RGC-32 plays a dual role in multiple sclerosis, both as a regulator of T-cells mediated apoptosis and as a promoter of TGF-beta-mediated profibrotic effects in astrocytes (PMID:23000427)
• RGC32 promotes cell migration and invasion and induces epithelial-mesenchymal transition in lung cancer cells via the NF-kappaB signaling pathway. (PMID:23715780)
• Suggest that RGC32 is involved in tumorigenesis of human lung cancer, inducing apoptosis and inhibiting cell growth, migration, and invasion. (PMID:24833469)
• results demonstrate for the first time that RGC-32 is a novel membrane regulator for macrophage phagocytosis. (PMID:24973210)
• In conclusion, the present study indicates that C5a may promote the proliferation of breast cancer cells through Akt1 activation of the RGC-32 gene. (PMID:25230890)
• RGC-32 expression on M2-polarized and tumor-associated macrophages is M-CSF-dependent and enhanced by tumor-derived IL-4. (PMID:25418473)
• Data suggest that expression of RGC32 is down-regulated in placental trophoblasts in women with pre-eclampsia as compared to women with normal term pregnancies; silencing RGC32 expression by RNA interference inhibits trophoblast migration/invasion. (PMID:25655049)
• RGC-32 mediates human aortic endothelial cell migration through the regulation of RhoA and ROCK1 expression. (PMID:27619159)
• RGCC may be a candidate cell cycle target for neuroprotection during the onset of Alzheimer’s disease. (PMID:27938491)
• RGC32 facilitates epithelial-mesenchymal transition of colorectal cancer cells by activating Smad/Sip1 signaling. (PMID:28470188)
• This study demonstrated the up-regulation of RGC-32 contributed to the imbalance of Treg/Th17 cells in patients with Dilated Cardiomyopathy. [RGC-32] (PMID:29035886)
• the extent of Pumilio binding to the endogenous RGC-32 mRNA in EBV-infected cell lines also correlated with RGC-32 protein expression. Our data demonstrate the importance of RGC-32 for the survival of EBV-immortalised B cells and identify Pumilio as a key regulator of RGC-32 translation. (PMID:29385536)
• Study findings suggest that diminished RGC-32 expression and M2 macrophage polarization were associated with the pro-inflammatory microenvironment of psoriasis. (PMID:30600542)
• Response gene to complement 32 expression in macrophages augments paracrine stimulation-mediated colon cancer progression. (PMID:31601783)
• Oncogenic gene RGC-32 is a direct target of miR-26b and facilitates tongue squamous cell carcinoma aggressiveness through EMT and PI3K/AKT signalling. (PMID:32325539)
• RGC-32’ dual role in smooth muscle cells and atherogenesis. (PMID:35462050)
• Role of RGC-32 in multiple sclerosis and neuroinflammation - few answers and many questions. (PMID:36172382)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rgcc	ENSDARG00000035810
mus_musculus	Rgcc	ENSMUSG00000022018
rattus_norvegicus	Rgccl1	ENSRNOG00000042960
rattus_norvegicus	Rgccl1	ENSRNOG00000047928

Protein

Protein identifiers

Regulator of cell cycle RGCC — Q9H4X1 (reviewed: Q9H4X1)

Alternative names: Response gene to complement 32 protein

All UniProt accessions (1): Q9H4X1

UniProt curated annotations — full annotation on UniProt →

Function. Modulates the activity of cell cycle-specific kinases. Enhances CDK1 activity. May contribute to the regulation of the cell cycle. May inhibit growth of glioma cells by promoting arrest of mitotic progression at the G2/M transition. Fibrogenic factor contributing to the pathogenesis of renal fibrosis through fibroblast activation.

Subunit / interactions. Interacts with SMAD3. Interacts with CDK1 and PLK1.

Subcellular location. Cytoplasm. Nucleus. Cytoskeleton. Microtubule organizing center. Centrosome.

Tissue specificity. Detected in brain, heart and liver (at protein level). Highly expressed in liver, skeletal muscle, kidney and pancreas. Detected at lower levels in heart, brain and placenta. Detected in aorta endothelial cells. Overexpressed in colon, breast, prostate, bladder, lung, and ovarian cancer tissues.

Induction. By Epstein-Barr virus (EBV). Up-regulated in aorta endothelial cells in response to complement activation.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H4X1-1	1	yes
Q9H4X1-2	2

RefSeq proteins (1): NP_054778* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029252	RGCC	Family

Pfam: PF15151

UniProt features (14 total): modified residue 7, region of interest 2, chain 1, splice variant 1, mutagenesis site 1, sequence conflict 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H4X1-F1	70.99	0.20

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): 111, 67, 69, 71, 75, 91, 97

Mutagenesis-validated functional residues (1):

Position	Phenotype
111	loss of phosphorylation. reduced stimulation of cdk1 activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6804115	TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain

MSigDB gene sets: 540 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_6HR_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, GOBP_REGULATION_OF_CELL_CELL_ADHESION_MEDIATED_BY_CADHERIN, PEREZ_TP63_TARGETS, GOBP_NEGATIVE_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOZGIT_ESR1_TARGETS_DN, MATTIOLI_MGUS_VS_PCL, GOBP_CELL_CYCLE_PHASE_TRANSITION

GO Biological Process (27): negative regulation of exit from mitosis (GO:0001100), negative regulation of cytokine production (GO:0001818), positive regulation of cytokine production (GO:0001819), negative regulation of endothelial cell proliferation (GO:0001937), complement receptor mediated signaling pathway (GO:0002430), positive regulation of extracellular matrix constituent secretion (GO:0003331), transforming growth factor beta receptor signaling pathway (GO:0007179), negative regulation of cell population proliferation (GO:0008285), positive regulation of gene expression (GO:0010628), positive regulation of epithelial to mesenchymal transition (GO:0010718), negative regulation of angiogenesis (GO:0016525), positive regulation of collagen biosynthetic process (GO:0032967), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), negative regulation of blood vessel endothelial cell migration (GO:0043537), positive regulation of mitotic cell cycle (GO:0045931), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of stress fiber assembly (GO:0051496), cellular response to hypoxia (GO:0071456), fibroblast activation (GO:0072537), negative regulation of fibroblast growth factor production (GO:0090272), positive regulation of G1/S transition of mitotic cell cycle (GO:1900087), positive regulation of extracellular matrix assembly (GO:1901203), negative regulation of mitotic cell cycle phase transition (GO:1901991), positive regulation of vascular associated smooth muscle cell proliferation (GO:1904707), negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048), positive regulation of endothelial cell apoptotic process (GO:2000353), regulation of cell cycle (GO:0051726)

GO Molecular Function (6): kinase activator activity (GO:0019209), protein kinase regulator activity (GO:0019887), protein kinase binding (GO:0019901), protein kinase activator activity (GO:0030295), R-SMAD binding (GO:0070412), protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
TP53 Regulates Transcription of Cell Cycle Genes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytokine production	2
regulation of cytokine production	2
positive regulation of multicellular organismal process	2
kinase regulator activity	2
protein kinase activity	2
nuclear lumen	2
intracellular membraneless organelle	2
regulation of exit from mitosis	1
exit from mitosis	1
negative regulation of mitotic cell cycle phase transition	1
negative regulation of gene expression	1
negative regulation of multicellular organismal process	1
positive regulation of gene expression	1
endothelial cell proliferation	1
regulation of endothelial cell proliferation	1
negative regulation of epithelial cell proliferation	1
immune response-activating cell surface receptor signaling pathway	1
regulation of extracellular matrix constituent secretion	1
extracellular matrix constituent secretion	1
positive regulation of extracellular matrix organization	1
positive regulation of secretion by cell	1
cellular response to transforming growth factor beta stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
epithelial to mesenchymal transition	1
regulation of epithelial to mesenchymal transition	1
positive regulation of cell differentiation	1
angiogenesis	1
regulation of angiogenesis	1
negative regulation of blood vessel morphogenesis	1
positive regulation of biosynthetic process	1
positive regulation of collagen metabolic process	1
collagen biosynthetic process	1
regulation of collagen biosynthetic process	1

Protein interactions and networks

STRING

858 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RGCC	CCNB1	P14635	810
RGCC	CNN1	P51911	656
RGCC	TAGLN	Q01995	644
RGCC	HIF1A	Q16665	632
RGCC	ACTA2	P03996	601
RGCC	MYH11	P35749	541
RGCC	AKT1	P31749	509
RGCC	FGF13	Q92913	504
RGCC	PLK1	P53350	502
RGCC	SMAD3	P84022	499
RGCC	CCNE1	P24864	468
RGCC	FGF2	P09038	427
RGCC	RHOA	P06749	401
RGCC	IL1A	P01583	377
RGCC	WNT11	O96014	359

IntAct

2 interactions, top by confidence:

A	B	Type	Score
RGCC	VASP	psi-mi:“MI:0914”(association)	0.350

BioGRID (25): TLN2 (Affinity Capture-MS), TLN1 (Affinity Capture-MS), TRAF7 (Affinity Capture-MS), CARS2 (Affinity Capture-MS), RGCC (Synthetic Lethality), PLK1 (Affinity Capture-Western), RGCC (Affinity Capture-Western), RGCC (Biochemical Activity), TLN2 (Affinity Capture-MS), CARS2 (Affinity Capture-MS), TLN1 (Affinity Capture-MS), TRAF7 (Affinity Capture-MS), TLN2 (Affinity Capture-MS), TRAF7 (Affinity Capture-MS), CARS2 (Affinity Capture-MS)

ESM2 similar proteins: A1YG22, A2T7L5, B8XIA5, P01106, P01108, P01109, P01110, P06171, P06295, P06646, P09416, P0C0N8, P0C0N9, P10166, P10395, P12523, P12524, P12525, P15171, P20389, P21438, P22555, P23583, P23999, P35805, P49032, P49033, P49709, P52160, P68271, P68272, Q00322, Q03484, Q05404, Q17103, Q1LWL8, Q28350, Q28566, Q29031, Q2HJ27

Diamond homologs: Q9DBX1, Q9H4X1, Q9Z2P4

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CyclinB/CDK1	“up-regulates activity”	RGCC	phosphorylation
RGCC	“up-regulates activity”	CDK1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	18
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1005 predictions. Top by Δscore:

Variant	Effect	Δscore
13:41457754:CAGG:C	donor_loss	1.0000
13:41457755:AGG:A	donor_loss	1.0000
13:41457757:G:GA	donor_loss	1.0000
13:41458283:A:AG	acceptor_gain	1.0000
13:41458284:G:GA	acceptor_gain	1.0000
13:41458284:GCCCC:G	acceptor_gain	1.0000
13:41458466:GGAGA:G	donor_gain	1.0000
13:41458467:GAGA:G	donor_gain	1.0000
13:41458467:GAGAG:G	donor_gain	1.0000
13:41458468:A:T	donor_gain	1.0000
13:41458469:GA:G	donor_gain	1.0000
13:41458471:G:GG	donor_gain	1.0000
13:41466817:T:A	acceptor_gain	1.0000
13:41466821:A:G	acceptor_gain	1.0000
13:41466929:AGGTA:A	donor_loss	1.0000
13:41466930:GGTAA:G	donor_loss	1.0000
13:41466932:T:A	donor_loss	1.0000
13:41468766:T:A	acceptor_gain	1.0000
13:41468773:C:G	acceptor_gain	1.0000
13:41468774:A:AG	acceptor_gain	1.0000
13:41468774:AG:A	acceptor_loss	1.0000
13:41468775:G:GA	acceptor_gain	1.0000
13:41468775:GCTA:G	acceptor_gain	1.0000
13:41468775:GCTAA:G	acceptor_gain	1.0000
13:41468834:AGCAA:A	donor_gain	1.0000
13:41468835:GCAA:G	donor_gain	1.0000
13:41468835:GCAAG:G	donor_gain	1.0000
13:41468836:CAA:C	donor_gain	1.0000
13:41468837:AA:A	donor_gain	1.0000
13:41468838:AGT:A	donor_loss	1.0000

AlphaMissense

907 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:41468808:T:C	F126L	0.995
13:41468810:C:A	F126L	0.995
13:41468810:C:G	F126L	0.995
13:41468812:T:A	I127N	0.994
13:41468821:T:C	L130P	0.994
13:41458339:T:C	F35S	0.993
13:41468800:T:C	L123P	0.993
13:41468800:T:A	L123Q	0.992
13:41458338:T:C	F35L	0.990
13:41458340:T:A	F35L	0.990
13:41458340:T:G	F35L	0.990
13:41468821:T:A	L130H	0.990
13:41458418:G:C	K61N	0.989
13:41458418:G:T	K61N	0.989
13:41468809:T:C	F126S	0.987
13:41468785:G:A	G118E	0.985
13:41458339:T:G	F35C	0.984
13:41468812:T:G	I127S	0.984
13:41468785:G:T	G118V	0.983
13:41468784:G:A	G118R	0.980
13:41468784:G:C	G118R	0.980
13:41468833:T:C	L134S	0.980
13:41468812:T:C	I127T	0.979
13:41458344:G:C	A37P	0.978
13:41468782:T:C	L117S	0.977
13:41466846:A:C	S87R	0.976
13:41466848:C:A	S87R	0.976
13:41466848:C:G	S87R	0.976
13:41458405:T:C	L57P	0.975
13:41458360:T:C	F42S	0.974

dbSNP variants (sampled 300 via entrez): RS1000344857 (13:41458632 G>C), RS1000346220 (13:41462496 A>C,G), RS1000438910 (13:41469285 A>G,T), RS1000491224 (13:41469132 A>G), RS1000770822 (13:41467923 A>C,G,T), RS1000792919 (13:41467071 A>G), RS1000818588 (13:41467738 A>T), RS1001086263 (13:41460626 G>T), RS1001170586 (13:41459558 C>T), RS1001341192 (13:41466138 ACACT>A), RS1001372324 (13:41465949 C>T), RS1001749309 (13:41463916 C>T), RS1002187457 (13:41457199 C>T), RS1002300131 (13:41464238 C>T), RS1002360561 (13:41467428 C>T)

Disease associations

OMIM: gene MIM:610077 | 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
GCST006979_1097	Heel bone mineral density	4.000000e-14
GCST008758_88	Pre-treatment viral load in HIV-1 infection	6.000000e-16
GCST009597_211	Multiple sclerosis	1.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0010125	viral load

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases methylation, affects cotreatment, increases expression	9
Benzo(a)pyrene	affects expression, increases expression, increases methylation	6
sodium arsenite	decreases expression, increases expression	5
Cyclosporine	affects expression, decreases expression, increases expression	5
cobaltous chloride	affects cotreatment, increases expression, decreases expression	3
Particulate Matter	increases expression, affects cotreatment, decreases expression, increases abundance	3
bisphenol A	increases expression, decreases expression	2
epigallocatechin gallate	increases expression, affects cotreatment	2
perfluorooctane sulfonic acid	decreases expression, increases expression	2
(+)-JQ1 compound	decreases expression	2
Arsenic Trioxide	decreases expression, increases expression	2
Troglitazone	decreases expression	2
Arsenic	increases expression, affects expression, increases abundance	2
Dexamethasone	increases expression, affects cotreatment	2
Estradiol	decreases expression, affects cotreatment, increases expression	2
Indomethacin	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Progesterone	increases expression, affects cotreatment	2
Silver	increases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Tobacco Smoke Pollution	increases expression	2
Tunicamycin	increases expression	2
Aflatoxin B1	increases expression, affects expression	2
GSK-J4	increases expression	1
methylmercuric chloride	increases expression	1
deoxynivalenol	increases expression	1
lead acetate	decreases expression, affects cotreatment	1
sodium arsenate	increases abundance, increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	increases expression	1

Clinical trials (associated diseases)

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