DENND4C

Summary

DENND4C (DENN domain containing 4C, HGNC:26079) is a protein-coding gene on chromosome 9p22.1, encoding DENN domain-containing protein 4C (Q5VZ89). Guanine nucleotide exchange factor (GEF) activating RAB10.

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in cellular response to insulin stimulus; protein localization to plasma membrane; and regulation of Rab protein signal transduction. Located in Golgi apparatus and cytosol.

Source: NCBI Gene 55667 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 319 total — 1 pathogenic
• MANE Select transcript: NM_001330640

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26079
Approved symbol	DENND4C
Name	DENN domain containing 4C
Location	9p22.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20686, bA513M16.3, RAB10GEF
Ensembl gene	ENSG00000137145
Ensembl biotype	protein_coding
Entrez	55667

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000361024, ENST00000380424, ENST00000380427, ENST00000380437, ENST00000434457, ENST00000494124, ENST00000602442, ENST00000602708, ENST00000602925, ENST00000959575, ENST00000959576, ENST00000959577

RefSeq mRNA: 21 — MANE Select: NM_001330640 NM_001330640, NM_001386026, NM_001386030, NM_001386031, NM_001386032, NM_001386034, NM_001386035, NM_001386036, NM_001386037, NM_001386038, NM_001386039, NM_001386040, NM_001386041, NM_001386042, NM_001386043, NM_001386044, NM_001386045, NM_001386046, NM_001386047, NM_001386048, NM_017925

CCDS: CCDS6491, CCDS83349

Canonical transcript exons

ENST00000434457 — 33 exons

Exon	Start	End
ENSE00001484944	19372037	19374281
ENSE00001594230	19276158	19276479
ENSE00001614026	19286769	19287021
ENSE00001660306	19288596	19288665
ENSE00001935761	19290704	19290876
ENSE00003464239	19345921	19347086
ENSE00003502849	19336686	19336832
ENSE00003509192	19357965	19358160
ENSE00003512547	19316417	19316517
ENSE00003523643	19342633	19342779
ENSE00003529969	19316621	19316839
ENSE00003530695	19352490	19352665
ENSE00003541510	19298056	19298122
ENSE00003559390	19360244	19360489
ENSE00003561412	19369837	19369987
ENSE00003566281	19296008	19296246
ENSE00003582017	19361846	19361963
ENSE00003587605	19326064	19326194
ENSE00003590362	19350702	19350879
ENSE00003597235	19324362	19324507
ENSE00003600169	19336270	19336414
ENSE00003612917	19305352	19305527
ENSE00003617140	19340992	19341114
ENSE00003635181	19331978	19332184
ENSE00003639300	19356972	19357154
ENSE00003649438	19300187	19300331
ENSE00003649512	19334977	19335105
ENSE00003649594	19299229	19299287
ENSE00003650273	19371756	19371820
ENSE00003659857	19325939	19325974
ENSE00003673078	19328030	19328162
ENSE00003688979	19352073	19352182
ENSE00003914968	19230693	19230833

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 96.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.9632 / max 162.6621, expressed in 1800 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
96249	8.6097	1693
96247	4.5777	1515
96245	2.1671	982
96248	1.4941	927
96246	1.0059	235
96244	0.1086	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	96.41	gold quality
skin of hip	UBERON:0001554	96.39	gold quality
calcaneal tendon	UBERON:0003701	96.31	gold quality
germinal epithelium of ovary	UBERON:0001304	95.89	gold quality
upper leg skin	UBERON:0004262	95.23	gold quality
gingival epithelium	UBERON:0001949	94.62	gold quality
colonic epithelium	UBERON:0000397	94.51	gold quality
mucosa of sigmoid colon	UBERON:0004993	94.45	gold quality
gingiva	UBERON:0001828	94.28	gold quality
lower lobe of lung	UBERON:0008949	93.99	gold quality
colonic mucosa	UBERON:0000317	93.74	gold quality
tendon	UBERON:0000043	93.66	gold quality
parietal pleura	UBERON:0002400	93.60	gold quality
cauda epididymis	UBERON:0004360	93.47	gold quality
mammalian vulva	UBERON:0000997	93.45	gold quality
palpebral conjunctiva	UBERON:0001812	93.44	gold quality
caput epididymis	UBERON:0004358	93.32	gold quality
duodenum	UBERON:0002114	93.30	gold quality
mammary duct	UBERON:0001765	93.02	gold quality
visceral pleura	UBERON:0002401	92.99	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.81	gold quality
oral cavity	UBERON:0000167	92.76	gold quality
jejunum	UBERON:0002115	92.68	gold quality
seminal vesicle	UBERON:0000998	92.66	gold quality
pleura	UBERON:0000977	92.53	gold quality
nipple	UBERON:0002030	92.53	gold quality
corpus epididymis	UBERON:0004359	92.38	gold quality
adrenal tissue	UBERON:0018303	92.33	gold quality
synovial joint	UBERON:0002217	92.32	gold quality
bronchial epithelial cell	CL:0002328	92.26	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

158 targeting DENND4C, 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-4776-3P	100.00	68.73	1340
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-493-5P	99.96	72.47	2382

Literature-anchored findings (GeneRIF, showing 5)

• Insulin-stimulated GLUT4 protein translocation in adipocytes requires the Rab10 guanine nucleotide exchange factor Dennd4C (PMID:21454697)
• circDENND4C silence suppresses glycolysis, migration and invasion in breast cancer cells under hypoxia by increasing miR-200b and miR-200c. (PMID:31488193)
• Circular RNA circDENND4C facilitates proliferation, migration and glycolysis of colorectal cancer cells through miR-760/GLUT1 axis. (PMID:32196590)
• circDENND4C, a novel serum marker for epithelial ovarian cancer, acts as a tumor suppressor by downregulating miR-200b/c. (PMID:36896567)
• Circ DENND4C inhibits pyroptosis and alleviates ischemia-reperfusion acute kidney injury by exosomes secreted from human urine-derived stem cells. (PMID:38412628)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dennd4c	ENSDARG00000102766
mus_musculus	Dennd4c	ENSMUSG00000038024
rattus_norvegicus	Dennd4c	ENSRNOG00000008036
drosophila_melanogaster	Crag	FBGN0025864
caenorhabditis_elegans		WBGENE00018681

Paralogs (3): DENND3 (ENSG00000105339), DENND4A (ENSG00000174485), DENND4B (ENSG00000198837)

Protein

Protein identifiers

DENN domain-containing protein 4C — Q5VZ89 (reviewed: Q5VZ89)

All UniProt accessions (5): A0A0A0MRX3, Q5VZ89, R4GMN2, X6R5W5, X6RAE7

UniProt curated annotations — full annotation on UniProt →

Function. Guanine nucleotide exchange factor (GEF) activating RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB10 into its active GTP-bound form. Thereby, stimulates SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane in response to insulin.

Subcellular location. Cytoplasmic vesicle membrane. Cell membrane. Cytoplasm. Cytosol.

Post-translational modifications. Phosphorylated in response to insulin.

Isoforms (4)

UniProt ID	Names	Canonical?
Q5VZ89-1	1	yes
Q5VZ89-3	3
Q5VZ89-5	5
Q5VZ89-7	2

RefSeq proteins (21): NP_001317569, NP_001372955, NP_001372959, NP_001372960, NP_001372961, NP_001372963, NP_001372964, NP_001372965, NP_001372966, NP_001372967, NP_001372968, NP_001372969, NP_001372970, NP_001372971, NP_001372972, NP_001372973, NP_001372974, NP_001372975, NP_001372976, NP_001372977, NP_060395 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001194	cDENN_dom	Domain
IPR005112	dDENN_dom	Domain
IPR005113	uDENN_dom	Domain
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR023341	MABP	Domain
IPR037516	Tripartite_DENN	Domain
IPR043153	DENN_C	Homologous_superfamily
IPR051696	DENN_Domain_GEFs	Family

Pfam: PF02141, PF03455, PF03456

UniProt features (56 total): modified residue 28, sequence conflict 8, splice variant 5, domain 4, compositionally biased region 3, sequence variant 3, region of interest 3, chain 1, repeat 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9O9I	X-RAY DIFFRACTION	2.35

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VZ89-F1	64.77	0.34

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 (28): 703, 737, 741, 965, 968, 973, 975, 989, 996, 1003, 1046, 1061, 1099, 1126, 1184, 1225, 1244, 1252, 1278, 1325 …

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8876198	RAB GEFs exchange GTP for GDP on RABs

MSigDB gene sets: 227 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, REACTOME_MEMBRANE_TRAFFICKING, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, FREAC3_01, GOBP_RESPONSE_TO_INSULIN, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_HORMONE, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN

GO Biological Process (4): protein transport (GO:0015031), regulation of Rab protein signal transduction (GO:0032483), cellular response to insulin stimulus (GO:0032869), protein localization to plasma membrane (GO:0072659)

GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)

GO Cellular Component (9): Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasmic vesicle membrane (GO:0030659), retromer complex (GO:0030904), cytoplasmic vesicle (GO:0031410), insulin-responsive compartment (GO:0032593), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Rab regulation of trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
cellular anatomical structure	3
endomembrane system	2
transport	1
intracellular protein localization	1
establishment of protein localization	1
Rab protein signal transduction	1
regulation of small GTPase mediated signal transduction	1
response to insulin	1
cellular response to peptide hormone stimulus	1
protein localization to membrane	1
protein localization to cell periphery	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
binding	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
vesicle membrane	1
cytoplasmic vesicle	1
membrane protein complex	1
intracellular vesicle	1
secretory granule	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

630 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DENND4C	RAB10	P61026	611
DENND4C	HBS1L	Q9Y450	450
DENND4C	RAB8A	P24407	429
DENND4C	ANKFY1	Q9P2R3	427
DENND4C	MINDY1	Q8N5J2	425
DENND4C	WHAMM	Q8TF30	422
DENND4C	CCDC171	Q6TFL3	409
DENND4C	TBC1D4	O60343	404
DENND4C	HBA1	P01922	396
DENND4C	DENND5A	Q6IQ26	382
DENND4C	AVL9	Q8NBF6	368
DENND4C	DENND5B	Q6ZUT9	354
DENND4C	RAB13	P51153	345
DENND4C	MTAP	Q13126	345
DENND4C	KLHL29	Q96CT2	344

IntAct

146 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAE	RGS12	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAZ	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
Pqbp1	PRPF4	psi-mi:“MI:0914”(association)	0.350
FIRRM	ALDH3A2	psi-mi:“MI:0914”(association)	0.350
Tgs1	EFCAB5	psi-mi:“MI:0914”(association)	0.350
CDK8	CCNC	psi-mi:“MI:0914”(association)	0.350
Ecd	AAR2	psi-mi:“MI:0914”(association)	0.350
OFD1	SUPT5H	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAZ	SPEG	psi-mi:“MI:0914”(association)	0.350

BioGRID (175): DENND4C (Affinity Capture-MS), DENND4C (Affinity Capture-MS), DENND4C (Proximity Label-MS), DENND4C (Affinity Capture-MS), DENND4C (Affinity Capture-MS), DENND4C (Affinity Capture-MS), DENND4C (Affinity Capture-MS), DENND4C (Affinity Capture-MS), DENND4C (Affinity Capture-MS), DENND4C (Affinity Capture-MS), DENND4C (Proximity Label-MS), KCTD3 (Affinity Capture-MS), KIF13B (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), DENND4C (Affinity Capture-MS)

ESM2 similar proteins: A0A571BF63, A0JMA8, A1A535, A1A5P5, A1ZBE8, A6H8H2, A8XSV3, B0BF33, B2RS91, E7F187, O17237, O43150, P25054, P30630, Q05B30, Q09263, Q14156, Q14738, Q14D04, Q19317, Q1AAU6, Q21106, Q2KI89, Q5PQS3, Q5R4N9, Q5R629, Q5RAY1, Q5SPP5, Q5U245, Q5VZ89, Q61315, Q61QK6, Q620W3, Q641A2, Q6ZQ18, Q7SIG6, Q7Z3E5, Q7Z401, Q7Z7A4, Q8BG67

Diamond homologs: A6H8H2, G2WWH6, O75064, Q3U1Y4, Q5VZ89, Q7Z401, Q9W3D3, E9PXF8, I1RQE2, O02626, O95248, P78524, Q3U1T9, Q68D51, Q68F67, Q6NTN5, Q6P3S1, Q6ZPE2, Q86WG5, Q8C4S8, Q8CFK6, Q8IV53, Q8K382, Q8TEH3, Q91VV4, Q924W7, Q9H6A0, Q9TXP3, Q9ULE3, Q9Y7Q7, X0JZ91, Q80U28, Q9VXY2, O08873, Q8WXG6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 140 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	9	65.0×	2e-12
Activation of BAD and translocation to mitochondria	7	57.3×	2e-09
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	50.6×	4e-09
Activation of BH3-only proteins	7	37.4×	3e-08
RHO GTPases activate PKNs	8	27.3×	3e-08
Intrinsic Pathway for Apoptosis	7	22.0×	1e-06
FOXO-mediated transcription	5	18.1×	2e-04
SARS-CoV-1-host interactions	8	15.1×	2e-06

GO biological processes:

GO term	Partners	Fold	FDR
substantia nigra development	7	21.0×	2e-05
protein targeting	6	18.0×	2e-04
G2/M transition of mitotic cell cycle	7	17.9×	3e-05
long-term synaptic potentiation	5	11.5×	5e-03
intracellular protein localization	9	7.7×	5e-04
protein phosphorylation	9	5.0×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	271
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	Pathogenic

SpliceAI

6256 predictions. Top by Δscore:

Variant	Effect	Δscore
9:19239989:T:TA	acceptor_gain	1.0000
9:19239991:T:TA	acceptor_gain	1.0000
9:19276153:TCTA:T	acceptor_loss	1.0000
9:19276156:A:AG	acceptor_gain	1.0000
9:19276157:G:GG	acceptor_gain	1.0000
9:19276157:GA:G	acceptor_gain	1.0000
9:19276157:GAA:G	acceptor_gain	1.0000
9:19276157:GAAA:G	acceptor_gain	1.0000
9:19276157:GAAAA:G	acceptor_gain	1.0000
9:19276407:G:GT	donor_gain	1.0000
9:19276407:G:T	donor_gain	1.0000
9:19288573:T:G	acceptor_gain	1.0000
9:19288594:A:AG	acceptor_gain	1.0000
9:19288594:AGT:A	acceptor_gain	1.0000
9:19288594:AGTG:A	acceptor_gain	1.0000
9:19288594:AGTGG:A	acceptor_gain	1.0000
9:19288595:G:GG	acceptor_gain	1.0000
9:19288595:GTG:G	acceptor_gain	1.0000
9:19288595:GTGG:G	acceptor_gain	1.0000
9:19288595:GTGGG:G	acceptor_gain	1.0000
9:19288661:GGCTG:G	donor_gain	1.0000
9:19288662:GCTGG:G	donor_gain	1.0000
9:19298055:GGCAC:G	acceptor_gain	1.0000
9:19299226:A:AG	acceptor_gain	1.0000
9:19299227:A:AG	acceptor_gain	1.0000
9:19299228:G:GC	acceptor_gain	1.0000
9:19299228:GCT:G	acceptor_gain	1.0000
9:19300185:A:AG	acceptor_gain	1.0000
9:19300185:AGT:A	acceptor_gain	1.0000
9:19300186:G:GG	acceptor_gain	1.0000

AlphaMissense

12907 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:19276436:T:C	C88R	0.999
9:19286849:T:A	V129D	0.999
9:19288617:T:C	C194R	0.999
9:19300285:C:T	S422F	0.999
9:19332032:T:A	W770R	0.999
9:19332032:T:C	W770R	0.999
9:19352514:T:C	C1495R	0.999
9:19352562:T:A	W1511R	0.999
9:19352562:T:C	W1511R	0.999
9:19352595:T:C	C1522R	0.999
9:19360295:A:C	S1689R	0.999
9:19360297:T:A	S1689R	0.999
9:19360297:T:G	S1689R	0.999
9:19360320:T:C	L1697P	0.999
9:19360397:T:A	W1723R	0.999
9:19360397:T:C	W1723R	0.999
9:19360404:T:C	L1725P	0.999
9:19276302:T:A	I43N	0.998
9:19276398:T:C	L75S	0.998
9:19276402:C:A	N76K	0.998
9:19276402:C:G	N76K	0.998
9:19276438:T:G	C88W	0.998
9:19286843:C:A	A127D	0.998
9:19287008:T:C	L182S	0.998
9:19287012:T:A	N183K	0.998
9:19287012:T:G	N183K	0.998
9:19288619:T:G	C194W	0.998
9:19288620:T:G	Y195D	0.998
9:19288625:G:C	K196N	0.998
9:19288625:G:T	K196N	0.998

dbSNP variants (sampled 300 via entrez): RS1000004981 (9:19362801 T>C), RS1000006132 (9:19313697 A>G), RS1000049000 (9:19235861 G>A), RS1000065884 (9:19285548 A>C), RS1000071821 (9:19273975 C>T), RS1000119078 (9:19243637 C>T), RS1000137805 (9:19356349 T>C), RS1000157592 (9:19292667 C>G), RS1000158506 (9:19260721 T>A), RS1000159559 (9:19269464 A>C), RS1000163168 (9:19342864 C>A,G,T), RS1000268513 (9:19315767 G>A), RS1000269731 (9:19330804 C>T), RS1000333231 (9:19310642 T>A), RS1000337450 (9:19275625 C>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST007931_56	Medication use (HMG CoA reductase inhibitors)	3.000000e-09
GCST009870_18	Calcific aortic valve stenosis	4.000000e-06
GCST010204_118	Low density lipoprotein cholesterol levels	2.000000e-12
GCST010242_151	HDL cholesterol levels	5.000000e-12

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0009932	HMG CoA reductase inhibitor use measurement
EFO:0000266	aortic stenosis
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004612	high density lipoprotein cholesterol measurement

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
bisphenol A	decreases expression, increases expression, affects cotreatment	2
sodium arsenite	decreases expression, increases abundance	2
Valproic Acid	decreases expression, increases expression	2
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	decreases phosphorylation	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
corosolic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
(+)-JQ1 compound	increases expression	1
Bortezomib	increases expression	1
Vorinostat	affects cotreatment, increases expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Caffeine	affects phosphorylation	1
Calcitriol	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Melphalan	decreases expression	1

Clinical trials (associated diseases)

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