CAVIN3

Summary

CAVIN3 (caveolae associated protein 3, HGNC:9400) is a protein-coding gene on chromosome 11p15.4, encoding Caveolae-associated protein 3 (Q969G5). Regulates the traffic and/or budding of caveolae.

The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein.

Source: NCBI Gene 112464 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_145040

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9400
Approved symbol	CAVIN3
Name	caveolae associated protein 3
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	SRBC, HSRBC, MGC20400, cavin-3
Ensembl gene	ENSG00000170955
Ensembl biotype	protein_coding
OMIM	618303
Entrez	112464

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 retained_intron

ENST00000303927, ENST00000524852, ENST00000530979, ENST00000532354, ENST00000906403, ENST00000954671

RefSeq mRNA: 1 — MANE Select: NM_145040 NM_145040

CCDS: CCDS7762

Canonical transcript exons

ENST00000303927 — 2 exons

Exon	Start	End
ENSE00001381778	6320093	6320501
ENSE00003531307	6318946	6319564

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 98.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 56.5419 / max 670.2716, expressed in 1380 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118409	50.6501	1365
118400	2.7302	904
118399	1.1247	597
118410	0.6451	37
118401	0.5459	332
118403	0.2738	115
118406	0.2247	4
118402	0.2043	86
118398	0.0458	9
118405	0.0321	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right coronary artery	UBERON:0001625	98.84	gold quality
ascending aorta	UBERON:0001496	98.65	gold quality
thoracic aorta	UBERON:0001515	98.65	gold quality
descending thoracic aorta	UBERON:0002345	98.65	gold quality
aorta	UBERON:0000947	98.58	gold quality
popliteal artery	UBERON:0002250	98.56	gold quality
tibial artery	UBERON:0007610	98.55	gold quality
artery	UBERON:0001637	98.51	gold quality
left coronary artery	UBERON:0001626	98.41	gold quality
saphenous vein	UBERON:0007318	98.37	gold quality
coronary artery	UBERON:0001621	98.35	gold quality
left testis	UBERON:0004533	97.45	gold quality
nerve	UBERON:0001021	97.31	gold quality
tibial nerve	UBERON:0001323	97.31	gold quality
right testis	UBERON:0004534	97.21	gold quality
blood vessel layer	UBERON:0004797	97.04	gold quality
body of uterus	UBERON:0009853	96.61	gold quality
endocervix	UBERON:0000458	96.60	gold quality
urethra	UBERON:0000057	96.34	gold quality
apex of heart	UBERON:0002098	96.16	gold quality
synovial joint	UBERON:0002217	95.93	gold quality
testis	UBERON:0000473	95.90	gold quality
mucosa of stomach	UBERON:0001199	95.86	gold quality
left uterine tube	UBERON:0001303	95.66	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.53	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.53	gold quality
lower esophagus	UBERON:0013473	95.46	gold quality
myometrium	UBERON:0001296	95.21	gold quality
ectocervix	UBERON:0012249	94.92	gold quality
germinal epithelium of ovary	UBERON:0001304	94.86	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 14.

Experiment	Marker?	Max mean expression
E-MTAB-10137	yes	599.71
E-HCAD-1	yes	84.73
E-MTAB-6701	yes	62.83
E-MTAB-10287	yes	55.49
E-MTAB-8410	yes	33.85
E-HCAD-13	yes	27.20
E-HCAD-11	yes	22.29
E-HCAD-31	yes	21.23
E-CURD-46	yes	14.69
E-CURD-112	yes	12.98
E-MTAB-5061	yes	12.07
E-MTAB-9388	yes	9.06
E-HCAD-9	yes	7.88
E-MTAB-8271	no	220.64
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting CAVIN3, 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-6768-5P	99.92	67.36	1942
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-3122	99.50	66.33	821
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-3691-5P	98.62	65.88	552
HSA-MIR-541-5P	98.24	67.77	1181
HSA-MIR-12120	98.05	68.44	1768
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-1302	97.92	67.27	844
HSA-MIR-4298	97.26	66.59	765
HSA-MIR-4448	97.04	66.22	752
HSA-MIR-27A-5P	97.01	65.63	528
HSA-MIR-2909	96.36	67.30	562
HSA-MIR-3165	96.18	66.22	473

Literature-anchored findings (GeneRIF, showing 22)

• Human SRBC is located within the 11p15.5-p15.4 tumor suppressor region and is inactivated in breast and lung cancers. (PMID:11691816)
• hSRBC is a candidate tumor suppressor gene involved in lung cancer pathogenesis, where expression is frequently inactivated by methylation and other mechanisms (PMID:15940253)
• hSRBC is a novel tumor suppressor whose epigenetic inactivation contributes to the malignant progression of gastric tumors, in part, through attenuated p53 response to stresses. (PMID:18059034)
• Results suggest that SRBC (sdr-related gene product that binds to c-kinase) and two other family members [PTRF (Pol I and transcription release factor) and SDPR] function as caveolin adapter molecules that regulate caveolae function. (PMID:19262564)
• Data show low or moderate methylation was found in seven selected genes BAD, BBC3, CAV1, CDK2AP1, NPM1, PRKCDBP and THEM4. (PMID:19679565)
• Our data demonstrate that epigenetic inactivation of hSRBC due to aberrant promoter hypermethylation is a common event and might be implicated in human ovarian tumorigenesis. (PMID:20423276)
• The cavin family protein Polymerase 1 and transcript release factor, SRBC and serum deprivation response protein were down regulated in breast cancer cell lines and breast tumor tissue. (PMID:21913217)
• Data indicate that PRKCDBP expression was hardly detectable in 29 of 80 (36%) primary tumors and 11 of 19 (58%) cell lines. (PMID:21980136)
• individuals with the variant homozygous CC genotype of PRKCDBP rs1051992 were at higher risk for developing endometrial cancer, but this genotype was a favorable prognostic factor once cancer was present (PMID:23020606)
• we found loss at 11p15 to be a marker for triple-negative breast cancer and breast cancer brain metastases and PRKCDBP to be a potential target gene in this locus. (PMID:23118876)
• in vivo consequences of cavin-3 knockout are increased lactate production and cachexia (PMID:24069528)
• Rather than forming a single coat complex containing the three cavin family members, single-molecule analysis reveals an exquisite specificity of interactions between cavin1, cavin2 and cavin3. (PMID:24473072)
• These results demonstrate that mucosal expression of PRKCDBP correlated strongly with TNF-alpha expression in UC patients and that infliximab therapy resulted in profound reductions in both PRKCDBP and TNF-alpha. (PMID:25052149)
• cavin3 is recruited to the caveolae coat by cavin1 to interact with caveolin1 and regulate the duration time of caveolae at the plasma membrane. (PMID:25588833)
• PRKCDBP variants may be risk factors of major depressive disorder. (PMID:27721187)
• Evidence of a mechanistic link between ROR1-CAVIN3 interaction and consequential caveolae trafficking, which was found to utilize a binding site distinct from those for ROR1 interactions with CAV1 and CAVIN1, with RTK-mediated pro-survival signaling towards AKT in early endosomes in lung adenocarcinoma cells was also obtained. (PMID:30894682)
• Data evaluate the interaction between one candidate interactor protein, protein phosphatase 1 alpha (PP1alpha), and Cavin-1 and -3 and show that UV treatment causes release of Cavin3 from caveolae allowing interaction with, and inhibition of, PP1alpha. (PMID:31332168)
• Contribution of DNA methylation and EZH2 in SRBC down-regulation in gastric cancer. (PMID:32676814)
• Matrine induces apoptosis and autophagy in human lung adenocarcinoma cells via upregulation of Cavin3 and suppression of PI3K/AKT pathway. (PMID:32862598)
• Low expression of PRKCDBP promoted cisplatin resistance in lung adenocarcinoma by DNMT1 and TNFalpha. (PMID:32945503)
• Cavin3 released from caveolae interacts with BRCA1 to regulate the cellular stress response. (PMID:34142659)
• PRKCDBP Methylation is a Potential and Promising Candidate Biomarker for Non-small Cell Lung Cancer. (PMID:35224960)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cavin2a	ENSDARG00000027611
danio_rerio	cavin2b	ENSDARG00000071196
mus_musculus	Cavin3	ENSMUSG00000037060
rattus_norvegicus	Cavin3	ENSRNOG00000017914

Paralogs (3): CAVIN2 (ENSG00000168497), CAVIN4 (ENSG00000170681), CAVIN1 (ENSG00000177469)

Protein

Protein identifiers

Caveolae-associated protein 3 — Q969G5 (reviewed: Q969G5)

Alternative names: Cavin-3, Protein kinase C delta-binding protein, Serum deprivation response factor-related gene product that binds to C-kinase

All UniProt accessions (2): E9PIE3, Q969G5

UniProt curated annotations — full annotation on UniProt →

Function. Regulates the traffic and/or budding of caveolae. Plays a role in caveola formation in a tissue-specific manner. Required for the formation of caveolae in smooth muscle but not in the lung and heart endothelial cells. Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by promoting the rapid release of caveolae from the cell surface. Plays a role in the regulation of the circadian clock. Modulates the period length and phase of circadian gene expression and also regulates expression and interaction of the core clock components PER1/2 and CRY1/2.

Subunit / interactions. Component of the CAVIN complex composed of CAVIN1, CAVIN2, CAVIN3 and CAVIN4. Interacts with PRKCD and with phosphatidylserine. Phosphatidylserine may form a bridge between PKC and PKC-binding partners and stabilize the binding. Interacts with PER2. Interacts with CAVIN1. Interacts (via leucine-zipper domain) with CAV1 in a cholesterol-sensitive manner. Interacts with EPS15L1.

Subcellular location. Cytoplasm. Membrane. Caveola. Cytosol.

Tissue specificity. Skeletal muscle, liver, stomach, lung, kidney and heart (at protein level). Strongly expressed in mammary and epithelial cells.

Post-translational modifications. In vitro, phosphorylated by PRKCD.

Domain organisation. The leucine-zipper domain is essential for its localization in the caveolae and for its interaction with CAV1 and EPS15L1.

Induction. Down-regulated in breast and lung cancer cell lines.

Similarity. Belongs to the CAVIN family.

RefSeq proteins (1): NP_659477* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026752	Cavin_fam	Family

Pfam: PF15237

UniProt features (18 total): modified residue 5, region of interest 4, sequence variant 4, compositionally biased region 3, chain 1, cross-link 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969G5-F1	72.11	0.38

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 (6): 165, 166, 173, 128, 62, 70

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 163 (showing top): GOBP_CIRCADIAN_RHYTHM, PAL_PRMT5_TARGETS_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_CIRCADIAN_REGULATION_OF_GENE_EXPRESSION, LA_MEN1_TARGETS, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, ONKEN_UVEAL_MELANOMA_UP, GOBP_NEGATIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GROSS_HYPOXIA_VIA_ELK3_DN, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GROSS_HYPOXIA_VIA_HIF1A_DN, GROSS_HYPOXIA_VIA_ELK3_AND_HIF1A_UP, TGANTCA_AP1_C

GO Biological Process (6): cortical actin cytoskeleton organization (GO:0030866), circadian regulation of gene expression (GO:0032922), negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051898), positive regulation of ERK1 and ERK2 cascade (GO:0070374), negative regulation of fermentation (GO:1901003), rhythmic process (GO:0048511)

GO Molecular Function (2): protein kinase C binding (GO:0005080), protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), caveola (GO:0005901), protein-containing complex (GO:0032991), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
actin cytoskeleton organization	1
cortical cytoskeleton organization	1
circadian rhythm	1
regulation of gene expression	1
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
negative regulation of intracellular signal transduction	1
positive regulation of MAPK cascade	1
ERK1 and ERK2 cascade	1
regulation of ERK1 and ERK2 cascade	1
fermentation	1
negative regulation of metabolic process	1
regulation of fermentation	1
biological_process	1
protein kinase binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
plasma membrane raft	1
cellular_component	1

Protein interactions and networks

STRING

718 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CAVIN3	CAV1	Q03135	805
CAVIN3	CAVIN1	Q6NZI2	717
CAVIN3	CAVIN2	O95810	679
CAVIN3	PRKCD	Q05655	678
CAVIN3	EHD2	Q9NZN4	609
CAVIN3	CAV2	P51636	593
CAVIN3	CAVIN4	Q5BKX8	579
CAVIN3	PACSIN2	Q9UNF0	551
CAVIN3	EHD3	Q9NZN3	537
CAVIN3	CAV3	P56539	518
CAVIN3	PER2	O15055	507
CAVIN3	PPP1CA	P08129	468
CAVIN3	MYC	P01106	447
CAVIN3	PRKCA	P17252	437
CAVIN3	CCR7	P32248	426

IntAct

239 interactions, top by confidence:

A	B	Type	Score
MRFAP1	MORF4L2	psi-mi:“MI:0914”(association)	0.950
MRFAP1L1	CAVIN3	psi-mi:“MI:0915”(physical association)	0.780
CAVIN3	MRFAP1L1	psi-mi:“MI:0915”(physical association)	0.780
CAVIN1	CAVIN3	psi-mi:“MI:0915”(physical association)	0.770
STBD1	GABARAP	psi-mi:“MI:0914”(association)	0.760
CAVIN3	MRFAP1	psi-mi:“MI:0915”(physical association)	0.670
TPM3	CAVIN3	psi-mi:“MI:0915”(physical association)	0.670
CAVIN3	CAV1	psi-mi:“MI:0914”(association)	0.650
CAV1	CAVIN3	psi-mi:“MI:0915”(physical association)	0.650
CAV1	CAVIN1	psi-mi:“MI:0914”(association)	0.640
CAV1	CAVIN2	psi-mi:“MI:0914”(association)	0.600
CAVIN2	CAV1	psi-mi:“MI:0914”(association)	0.600
CAVIN3	TFIP11	psi-mi:“MI:0915”(physical association)	0.560
NUP62	CAVIN3	psi-mi:“MI:0915”(physical association)	0.560
CEP76	CAVIN3	psi-mi:“MI:0915”(physical association)	0.560
GOLGA6L9	CAVIN3	psi-mi:“MI:0915”(physical association)	0.560
CAVIN3	GPRASP2	psi-mi:“MI:0915”(physical association)	0.560
MAGEA11	CAVIN3	psi-mi:“MI:0915”(physical association)	0.560
CEP70	CAVIN3	psi-mi:“MI:0915”(physical association)	0.560
TIMM8A	CAVIN3	psi-mi:“MI:0915”(physical association)	0.560
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
REEP1	PLSCR1	psi-mi:“MI:0914”(association)	0.530
CAVIN1	ZZEF1	psi-mi:“MI:0914”(association)	0.530
TMEM43	ENDOD1	psi-mi:“MI:0914”(association)	0.530

BioGRID (99): MRFAP1L1 (Two-hybrid), PRKCDBP (Affinity Capture-MS), PRKCDBP (Affinity Capture-MS), PRKCDBP (Affinity Capture-MS), PRKCDBP (Affinity Capture-MS), PRKCDBP (Affinity Capture-MS), PRKCDBP (Affinity Capture-MS), PRKCDBP (Affinity Capture-MS), PRKCDBP (Affinity Capture-MS), PRKCDBP (Affinity Capture-MS), PRKCDBP (Affinity Capture-MS), PRKCDBP (Affinity Capture-MS), PRKCDBP (Affinity Capture-MS), PRKCDBP (Affinity Capture-MS), PRKCDBP (Affinity Capture-MS)

ESM2 similar proteins: A1A5D9, A1L3T7, A4FV37, A6NC98, A6NJZ7, A6NNM3, O15049, P0C7N4, P0CW27, P58660, Q0P5D1, Q1HGE8, Q2NL23, Q3LUD3, Q3UPH7, Q494R4, Q4QRL3, Q5JYT7, Q5ND29, Q5XIS1, Q64697, Q6QZQ4, Q6UXH0, Q6ZS72, Q7Z6P3, Q8BLS7, Q8C2K5, Q8C7U1, Q8CB62, Q8CB87, Q8CHW5, Q8N137, Q8R1L8, Q8TE77, Q8TER5, Q91VJ2, Q969G5, Q96EN9, Q96FF7, Q96LX7

Diamond homologs: A1L260, A2AMM0, A2VDA9, A4FV37, A5PJI6, B1PRL5, O54724, O95810, P85125, Q5BKX8, Q63918, Q66H98, Q6NZI2, Q969G5, Q9Z1H9, Q91VJ2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 149 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
RHOQ GTPase cycle	9	19.4×	3e-07
Neurexins and neuroligins	8	18.8×	2e-06
Assembly and cell surface presentation of NMDA receptors	6	18.1×	9e-05
RHOJ GTPase cycle	7	16.7×	3e-05
Protein-protein interactions at synapses	5	15.8×	7e-04
RHOF GTPase cycle	5	15.4×	7e-04
RHOG GTPase cycle	7	12.4×	1e-04
RHOD GTPase cycle	5	12.1×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein localization to synapse	5	31.6×	1e-04
establishment or maintenance of epithelial cell apical/basal polarity	6	28.8×	4e-05
receptor clustering	5	25.8×	3e-04
regulation of postsynaptic membrane neurotransmitter receptor levels	5	20.5×	6e-04
protein transport	15	5.4×	5e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	62
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

303 predictions. Top by Δscore:

Variant	Effect	Δscore
11:6320088:CTGA:C	donor_loss	1.0000
11:6320089:TGA:T	donor_loss	1.0000
11:6320090:GACCT:G	donor_loss	1.0000
11:6320091:A:T	donor_loss	1.0000
11:6320092:C:CG	donor_loss	1.0000
11:6319564:CCTG:C	acceptor_loss	0.9900
11:6319566:T:C	acceptor_loss	0.9900
11:6319562:CTC:C	acceptor_gain	0.9800
11:6319565:C:CC	acceptor_gain	0.9800
11:6319569:A:AC	acceptor_gain	0.9800
11:6319569:A:C	acceptor_gain	0.9800
11:6320091:A:AC	donor_gain	0.9800
11:6320092:C:CC	donor_gain	0.9800
11:6320116:T:TA	donor_gain	0.9800
11:6319567:G:C	acceptor_loss	0.9700
11:6319568:CA:C	acceptor_gain	0.9500
11:6320117:C:A	donor_gain	0.9400
11:6319560:TCCTC:T	acceptor_gain	0.9100
11:6319561:CCTCC:C	acceptor_gain	0.9100
11:6319571:G:C	acceptor_gain	0.8800
11:6319561:CCTC:C	acceptor_gain	0.8700
11:6319562:CTCC:C	acceptor_gain	0.8700
11:6319563:TCCT:T	acceptor_gain	0.8700
11:6319571:G:GC	acceptor_gain	0.8200
11:6320157:TG:T	donor_gain	0.7800
11:6319563:TC:T	acceptor_gain	0.7600
11:6319564:CC:C	acceptor_gain	0.7600
11:6319658:T:TA	donor_gain	0.7500
11:6319564:C:G	acceptor_gain	0.7200
11:6320091:AC:A	donor_gain	0.7200

AlphaMissense

1639 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:6320298:A:G	I60T	0.977
11:6320096:G:C	F127L	0.947
11:6320096:G:T	F127L	0.947
11:6320098:A:G	F127L	0.947
11:6320235:A:G	L81P	0.946
11:6320382:A:G	L32P	0.939
11:6320298:A:C	I60S	0.932
11:6320298:A:T	I60N	0.932
11:6320394:A:G	L28P	0.932
11:6320380:C:G	A33P	0.931
11:6320388:T:A	E30V	0.924
11:6320391:A:G	L29P	0.924
11:6320146:C:G	A111P	0.921
11:6319535:G:C	F138L	0.918
11:6319535:G:T	F138L	0.918
11:6319537:A:G	F138L	0.918
11:6320372:C:A	M35I	0.916
11:6320372:C:G	M35I	0.916
11:6320372:C:T	M35I	0.916
11:6320224:C:G	A85P	0.911
11:6320256:G:A	T74I	0.901
11:6320106:A:T	V124D	0.890
11:6320203:C:G	A92P	0.889
11:6320406:G:T	T24K	0.879
11:6319383:A:T	L189H	0.877
11:6320151:A:G	L109P	0.872
11:6320140:G:C	H113D	0.868
11:6320118:C:A	G120V	0.865
11:6320097:A:G	F127S	0.864
11:6320361:A:G	L39P	0.864

dbSNP variants (sampled 300 via entrez): RS1000455180 (11:6318939 A>G), RS1001770437 (11:6318773 T>G), RS1001980082 (11:6319426 C>G), RS1002599420 (11:6321972 G>A,C), RS1003920741 (11:6318638 G>A), RS1003993037 (11:6321548 G>A,T), RS1004924351 (11:6319635 T>C), RS1005127523 (11:6319699 T>A,C,G), RS1006784283 (11:6322421 A>G), RS1008178371 (11:6321146 A>G,T), RS1008201225 (11:6320592 C>T), RS1008223789 (11:6320311 A>C,T), RS1008793374 (11:6321979 G>C), RS1008864530 (11:6320610 G>A), RS1010128468 (11:6320099 G>A)

Disease associations

OMIM: gene MIM:618303 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST002361_11	Smooth-surface caries	1.000000e-06
GCST002875_69	Diisocyanate-induced asthma	2.000000e-07
GCST004283_13	Midgestational circulating levels of PCBs	3.000000e-07
GCST004283_23	Midgestational circulating levels of PCBs	2.000000e-06
GCST004283_24	Midgestational circulating levels of PCBs	5.000000e-06
GCST004283_5	Midgestational circulating levels of PCBs	3.000000e-07
GCST004283_6	Midgestational circulating levels of PCBs	1.000000e-06
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55
GCST012116_2	Rheumatic heart disease	3.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate
EFO:0007042	polychlorinated biphenyls measurement
EFO:0007964	gestational serum measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment, decreases expression, affects expression	7
trichostatin A	affects cotreatment, decreases expression	3
bisphenol A	decreases methylation, decreases expression	2
sodium arsenite	decreases expression, increases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression, increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
methylmercuric chloride	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
titanium dioxide	increases expression	1
terbufos	increases methylation	1
tetrahydropalmatine	decreases expression	1
arsenite	decreases methylation	1
cobaltous chloride	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
perfluoro-n-nonanoic acid	decreases expression	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol B	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
MRK 003	decreases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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