MUC13

Summary

MUC13 (mucin 13, cell surface associated, HGNC:7511) is a protein-coding gene on chromosome 3q21.2, encoding Mucin-13 (Q9H3R2). Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling.

Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).

Source: NCBI Gene 56667 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 7 total
• MANE Select transcript: NM_033049

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7511
Approved symbol	MUC13
Name	mucin 13, cell surface associated
Location	3q21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000173702
Ensembl biotype	protein_coding
OMIM	612181
Entrez	56667

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000462728, ENST00000478191, ENST00000490147, ENST00000497378, ENST00000616727, ENST00000891595, ENST00000891596, ENST00000891597

RefSeq mRNA: 1 — MANE Select: NM_033049 NM_033049

CCDS: CCDS33839

Canonical transcript exons

ENST00000616727 — 12 exons

Exon	Start	End
ENSE00001275928	124920234	124920289
ENSE00003566930	124922197	124922303
ENSE00003595038	124923527	124923649
ENSE00003723004	124913562	124913681
ENSE00003729061	124916317	124916480
ENSE00003743892	124927532	124927993
ENSE00003745438	124910415	124910499
ENSE00003747337	124905442	124906742
ENSE00003748553	124934661	124934751
ENSE00003753166	124908147	124908348
ENSE00003753325	124913111	124913240
ENSE00003754328	124912104	124912141

Expression profiles

Bgee: expression breadth ubiquitous, 169 present calls, max score 99.55.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 8.8000 / max 3534.1972, expressed in 133 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
44257	8.4931	120
44256	0.2232	43
44255	0.0458	8
44252	0.0127	5
44251	0.0092	6
44253	0.0087	4
44254	0.0073	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	99.55	gold quality
rectum	UBERON:0001052	99.27	gold quality
ileal mucosa	UBERON:0000331	99.10	gold quality
mucosa of sigmoid colon	UBERON:0004993	98.92	gold quality
colonic mucosa	UBERON:0000317	98.89	gold quality
mucosa of transverse colon	UBERON:0004991	98.59	gold quality
duodenum	UBERON:0002114	98.07	gold quality
islet of Langerhans	UBERON:0000006	97.59	gold quality
gall bladder	UBERON:0002110	95.65	gold quality
vermiform appendix	UBERON:0001154	94.86	gold quality
caecum	UBERON:0001153	93.34	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.70	gold quality
small intestine	UBERON:0002108	92.47	gold quality
transverse colon	UBERON:0001157	91.06	gold quality
epithelium of nasopharynx	UBERON:0001951	89.93	gold quality
jejunum	UBERON:0002115	89.91	gold quality
trachea	UBERON:0003126	89.36	gold quality
vena cava	UBERON:0004087	88.61	silver quality
pancreatic ductal cell	CL:0002079	88.53	silver quality
epithelial cell of pancreas	CL:0000083	88.45	gold quality
nasal cavity epithelium	UBERON:0005384	87.34	gold quality
intestine	UBERON:0000160	84.72	gold quality
amniotic fluid	UBERON:0000173	83.46	gold quality
large intestine	UBERON:0000059	82.00	gold quality
colon	UBERON:0001155	81.27	gold quality
type B pancreatic cell	CL:0000169	80.93	gold quality
colonic epithelium	UBERON:0000397	80.83	gold quality
bronchus	UBERON:0002185	80.24	gold quality
pericardium	UBERON:0002407	80.12	silver quality
epithelium of bronchus	UBERON:0002031	79.84	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-GEOD-81608	yes	532.71
E-GEOD-130473	yes	148.17
E-MTAB-8410	yes	46.61
E-GEOD-125970	yes	24.16
E-ENAD-27	yes	11.89
E-CURD-114	yes	10.81
E-GEOD-83139	yes	10.27
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

58 targeting MUC13, 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-6867-5P	100.00	82.21	3464
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-6868-5P	99.06	65.69	1284
HSA-MIR-513B-3P	98.76	68.12	1577

Literature-anchored findings (GeneRIF, showing 31)

• MUC13 is a good differentiation marker for gastrointestinal mucosa (PMID:15904467)
• Aberrant intestinal expression and allelic variant MUC13 is associated with inflammatory bowel disease. (PMID:17058067)
• Reflux laryngitis is associated with down-regulation of mucin gene expression. (PMID:18834073)
• Findings show the aberrant expression of MUC13 in ovarian cancer and that its expression alters the cellular characteristics of SKOV-3 cells. This implies a significant role of MUC13 in ovarian cancer. (PMID:19176398)
• The various functional domains of MUC13 may confer oncogenic potential to MUC13 (PMID:21450906)
• MUC13 overexpression caused a significant increase in cell motility, invasion, proliferation, and anchorage-dependent or -independent clonogenicity while decreasing cell-cell and cell-substratum adhesion in pancreatic cancer. (PMID:22027689)
• Metastatic colon cancer and liver metastasis tissue samples demonstrated significantly (p<0.05) higher cytoplasmic and nuclear MUC13 expression compared with non-metastatic colon cancer and adjacent normal colon samples. (PMID:22914648)
• GALNT14 may contribute to ovarian carcinogenesis through aberrant glycosylation of MUC13. (PMID:23708057)
• Overexpression of MUC13 increased cell growth, colony formation, cell migration, and invasion in colon cancer cells. (PMID:24097071)
• Overexpression of MUC13 is associated with pancreatic neuroendocrine tumors. (PMID:24114056)
• MUC13 is epigenetically regulated in ovarian cancer. (PMID:25048476)
• Based on nasopharyngeal MUC13 gene expression in readily available Nasopharyngeal aspirate samples , we can discriminate between severity of disease in Respiratory syncytial virus infected infants. (PMID:25261323)
• These results suggest miR-145 as a novel regulator of MUC13 in pancreatic cancer. (PMID:25277192)
• Results show that pancreatic ductal adenocarcinoma cells express higher levels of MUC13 and is associated with poor outcome when expressed at low level. (PMID:25672256)
• A combination of MUC13/MUC20 expression was a potential prognostic marker for patients with ESCC, who received neoadjuvant chemotherapy followed by surgery. (PMID:26323930)
• Results from this study demonstrate that MUC13 Functionally interacts and activates HER2 at p1248 in PDAC cells, leading to stimulation of HER2 signaling cascade, including ERK1/2, FAK, AKT and PAK1 as well as regulation of the growth, cytoskeleton remodeling and motility, invasion of PDAC cells-all collectively contributing to PDAC progression. (PMID:27321183)
• MUC13 high expression is a novel independent adverse prognostic factor of clinical outcome in non-metastatic clear cell renal cell carcinoma patients after surgery. (PMID:27911274)
• High MUC13 expression is associated with renal cell carcinoma and drug resistance. (PMID:28205224)
• Luciferase assays and western blot confirmed MUC13 as a target gene of miR1323p. (PMID:28339011)
• Overexpression of MUC13 plays a critical role in the development and progression of hepatocellular carcinoma by activating Wnt signaling. (PMID:29174628)
• Nuclear MUC13 expression positively correlated with nodal metastasis, invasion of cancer to peripheral tissues and poor patient survival in pancreatic ductal adenocarcinoma. (PMID:29352660)
• our study first demonstrated that USF1 could activate the transcription of MUC13, thereby enhancing the proliferation and self-renewal of glioblastoma stem cells (PMID:29441861)
• The results suggest that MUC13 overexpression and loss of expression of AGR2 may predict the progression of Intraductal papillary mucinous neoplasm and an unfavorable prognosis in patients with Intraductal papillary mucinous neoplasm (PMID:29650332)
• Cyst fluid MUC13 expression was significantly greater in high-risk intraductal papillary mucinous neoplasms. (PMID:30115565)
• High MUC13 expression is associated with colitis-associated colorectal tumors. (PMID:31427737)
• MUC13 promotes intrahepatic cholangiocarcinoma progression via EGFR/PI3K/AKT pathways. (PMID:31837357)
• Biophysical changes caused by altered MUC13 expression in pancreatic cancer cells. (PMID:31927412)
• Long noncoding RNA BBOX1-AS1 promotes the progression of gastric cancer by regulating the miR-361-3p/Mucin 13 signaling axis. (PMID:36700475)
• MUC13 drives cancer aggressiveness and metastasis through the YAP1-dependent pathway. (PMID:37793774)
• MUC13 negatively regulates tight junction proteins and intestinal epithelial barrier integrity via protein kinase C. (PMID:38345099)
• GCNT3 regulated MUC13 to promote the development of hepatocellular carcinoma through the GSK3beta/beta-catenin pathway. (PMID:38369410)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Muc13	ENSMUSG00000022824
rattus_norvegicus	Muc13	ENSRNOG00000001794

Paralogs (2): MUC17 (ENSG00000169876), MUC3A (ENSG00000169894)

Protein

Protein identifiers

Mucin-13 — Q9H3R2 (reviewed: Q9H3R2)

Alternative names: Down-regulated in colon cancer 1

All UniProt accessions (2): Q9H3R2, C9IZG1

UniProt curated annotations — full annotation on UniProt →

Function. Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling.

Subunit / interactions. Homodimer of beta subunits.

Subcellular location. Cell membrane. Apical cell membrane. Secreted.

Tissue specificity. Highly expressed in epithelial tissues, particularly those of the gastrointestinal and respiratory tracts, such as large intestine and trachea, followed by kidney, small intestine, appendix and stomach.

Post-translational modifications. Cleaved into two subunits, alpha and beta, probably between the first EGF domain and the SEA domain. Beta subunit contains the cytoplasmic tail and alpha subunit the extracellular tail. The homooligomerization into dimers is dependent on intrachain disulfide bonds. Highly N-glycosylated.

RefSeq proteins (1): NP_149038* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000082	SEA_dom	Domain
IPR000742	EGF	Domain
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily

Pfam: PF01390

UniProt features (36 total): disulfide bond 9, glycosylation site 6, compositionally biased region 4, sequence variant 4, domain 4, region of interest 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H3R2-F1	67.84	0.30

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (9): 177–188, 182–197, 199–210, 326–338, 331–344, 346–360, 367–378, 371–389, 391–403

Glycosylation sites (6): 151, 169, 193, 206, 284, 332

Function

Pathways and Gene Ontology

Reactome pathways

23 pathways

ID	Pathway
R-HSA-5083625	Defective GALNT3 causes HFTC
R-HSA-5083632	Defective C1GALT1C1 causes TNPS
R-HSA-5083636	Defective GALNT12 causes CRCS1
R-HSA-5621480	Dectin-2 family
R-HSA-913709	O-linked glycosylation of mucins
R-HSA-9696264	RND3 GTPase cycle
R-HSA-9696270	RND2 GTPase cycle
R-HSA-9696273	RND1 GTPase cycle
R-HSA-977068	Termination of O-glycan biosynthesis
R-HSA-162582	Signal Transduction
R-HSA-1643685	Disease
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-194315	Signaling by Rho GTPases
R-HSA-3781865	Diseases of glycosylation
R-HSA-3906995	Diseases associated with O-glycosylation of proteins
R-HSA-392499	Metabolism of proteins
R-HSA-5173105	O-linked glycosylation
R-HSA-5621481	C-type lectin receptors (CLRs)
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 139 (showing top): GOBP_DIGESTION, REACTOME_INNATE_IMMUNE_SYSTEM, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, HESS_TARGETS_OF_HOXA9_AND_MEIS1_UP, GOBP_MAINTENANCE_OF_GASTROINTESTINAL_EPITHELIUM, GOBP_DIGESTIVE_SYSTEM_PROCESS, GOCC_APICAL_PLASMA_MEMBRANE, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, chr3q21, GOBP_EPITHELIAL_STRUCTURE_MAINTENANCE, RGAGGAARY_PU1_Q6, ACEVEDO_LIVER_CANCER_UP, MODULE_342, GOCC_APICAL_PART_OF_CELL

GO Biological Process (1): maintenance of gastrointestinal epithelium (GO:0030277)

GO Molecular Function (1): protein homodimerization activity (GO:0042803)

GO Cellular Component (8): obsolete extracellular space (GO:0005615), Golgi lumen (GO:0005796), cytosol (GO:0005829), plasma membrane (GO:0005886), apical plasma membrane (GO:0016324), extracellular region (GO:0005576), membrane (GO:0016020), cell periphery (GO:0071944)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
Diseases associated with O-glycosylation of proteins	3
RHO GTPase cycle	3
C-type lectin receptors (CLRs)	1
O-linked glycosylation	1
O-linked glycosylation of mucins	1
Immune System	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Diseases of metabolism	1
Diseases of glycosylation	1
Post-translational protein modification	1
Innate Immune System	1
Disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
epithelial structure maintenance	1
digestive system process	1
identical protein binding	1
protein dimerization activity	1
Golgi apparatus	1
intracellular organelle lumen	1
cytoplasm	1
membrane	1
cell periphery	1
apical part of cell	1
plasma membrane region	1

Protein interactions and networks

STRING

1791 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MUC13	MUC12	Q9UKN1	960
MUC13	MUC17	Q685J3	934
MUC13	MUC4	Q99102	923
MUC13	MUC2	Q02817	915
MUC13	MUC20	Q8N307	901
MUC13	MUC15	Q8N387	886
MUC13	MUC7	Q8TAX7	881
MUC13	MUC1	P13931	879
MUC13	MUC5AC	P98088	879
MUC13	MUC21	Q5SSG8	837
MUC13	MUC5B	Q9HC84	833
MUC13	MUC3A	Q02505	823
MUC13	MUC16	Q8WXI7	819
MUC13	GALNT14	Q96FL9	811
MUC13	MUC6	Q6W4X9	784

IntAct

20 interactions, top by confidence:

A	B	Type	Score
IKBKG	IKBKB	psi-mi:“MI:0914”(association)	0.980
GJB2	SNX3	psi-mi:“MI:0914”(association)	0.350
RAB5C	GCA	psi-mi:“MI:0914”(association)	0.350
RAB7A		psi-mi:“MI:0914”(association)	0.350
Myh9	GOSR1	psi-mi:“MI:0914”(association)	0.350
MYH9	NAP1L1	psi-mi:“MI:0914”(association)	0.350
Arrb2	TCOF1	psi-mi:“MI:0914”(association)	0.350
KIFAP3	TAF4	psi-mi:“MI:0914”(association)	0.350
Vps4b	CNOT1	psi-mi:“MI:0914”(association)	0.350
Septin6	SEPTIN10	psi-mi:“MI:0914”(association)	0.350
Vps28	UMAD1	psi-mi:“MI:0914”(association)	0.350
CLCN2	PEX10	psi-mi:“MI:0914”(association)	0.350
AK7	ZC3H14	psi-mi:“MI:0914”(association)	0.350
PCK2	PLPBP	psi-mi:“MI:0914”(association)	0.350
CFTR		psi-mi:“MI:0914”(association)	0.350
VAMP5	ESYT2	psi-mi:“MI:0914”(association)	0.350
ZDHHC5	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
rep	NEMF	psi-mi:“MI:0914”(association)	0.350
	SDCBP	psi-mi:“MI:0914”(association)	0.350

BioGRID (46): MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-MS), MUC13 (Affinity Capture-RNA)

ESM2 similar proteins: A4H238, A4H241, B4DH59, O14763, O14798, O46598, O88799, P0C6Y7, P19467, P19957, P28908, P38565, P97881, Q02496, Q13342, Q14242, Q28983, Q2EG98, Q30KK3, Q4ZJY8, Q4ZJZ1, Q4ZJZ3, Q5FVR0, Q5QGU6, Q5W9T8, Q60401, Q62010, Q62170, Q6AXX0, Q6AXY3, Q6H9L7, Q6P752, Q8BP27, Q8BVC1, Q8N687, Q95152, Q96D42, Q96EQ9, Q9BXX2, Q9BXX3

Diamond homologs: P19467, P97881, Q9H3R2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1442 predictions. Top by Δscore:

Variant	Effect	Δscore
3:124908344:TTGAT:T	acceptor_gain	1.0000
3:124908345:TGAT:T	acceptor_gain	1.0000
3:124908346:GAT:G	acceptor_gain	1.0000
3:124908346:GATC:G	acceptor_loss	1.0000
3:124908347:AT:A	acceptor_gain	1.0000
3:124908347:ATC:A	acceptor_loss	1.0000
3:124908348:TC:T	acceptor_loss	1.0000
3:124908349:C:CC	acceptor_gain	1.0000
3:124908351:G:C	acceptor_gain	1.0000
3:124908356:C:CT	acceptor_gain	1.0000
3:124908357:A:T	acceptor_gain	1.0000
3:124908358:G:C	acceptor_gain	1.0000
3:124908358:G:GC	acceptor_gain	1.0000
3:124910409:CCATA:C	donor_loss	1.0000
3:124910410:CATA:C	donor_loss	1.0000
3:124910411:ATAC:A	donor_loss	1.0000
3:124910412:TA:T	donor_loss	1.0000
3:124910413:A:AT	donor_loss	1.0000
3:124910414:CCTT:C	donor_loss	1.0000
3:124910498:TT:T	acceptor_gain	1.0000
3:124910500:C:CC	acceptor_gain	1.0000
3:124912102:A:AC	donor_gain	1.0000
3:124912102:ACTGT:A	donor_gain	1.0000
3:124912103:C:CC	donor_gain	1.0000
3:124912103:CTGT:C	donor_gain	1.0000
3:124912103:CTGTC:C	donor_gain	1.0000
3:124913109:A:AC	donor_gain	1.0000
3:124913110:C:CC	donor_gain	1.0000
3:124913555:CACTT:C	donor_loss	1.0000
3:124913556:ACTTA:A	donor_loss	1.0000

AlphaMissense

3382 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:124912112:C:G	C415S	0.996
3:124912113:A:T	C415S	0.996
3:124910444:G:C	S436R	0.995
3:124910444:G:T	S436R	0.995
3:124910446:T:G	S436R	0.995
3:124912112:C:T	C415Y	0.993
3:124912139:C:G	C406S	0.993
3:124912140:A:T	C406S	0.993
3:124910473:C:G	G427R	0.992
3:124912111:A:C	C415W	0.992
3:124913117:C:G	C403S	0.992
3:124913118:A:T	C403S	0.992
3:124912112:C:A	C415F	0.991
3:124912113:A:G	C415R	0.991
3:124913654:C:G	C331S	0.991
3:124913655:A:T	C331S	0.991
3:124923569:A:G	C199R	0.991
3:124910461:C:G	G431R	0.990
3:124922294:A:C	F216C	0.990
3:124923568:C:G	C199S	0.990
3:124923569:A:T	C199S	0.990
3:124912140:A:G	C406R	0.989
3:124913154:A:G	C391R	0.989
3:124913192:C:G	C378S	0.989
3:124913193:A:T	C378S	0.989
3:124913567:C:G	C360S	0.989
3:124913568:A:T	C360S	0.989
3:124913609:C:G	C346S	0.989
3:124913610:A:T	C346S	0.989
3:124923535:C:G	C210S	0.989

dbSNP variants (sampled 300 via entrez): RS1000122733 (3:124919983 C>A,T), RS1000311618 (3:124926242 T>A,C,G), RS1000332814 (3:124917306 A>G), RS1000340067 (3:124911290 A>G), RS1000386662 (3:124917085 C>G,T), RS1000403347 (3:124914467 A>G), RS1000542601 (3:124928191 T>C), RS1000600323 (3:124922937 T>A), RS1000668127 (3:124916091 G>A), RS1000941597 (3:124921294 C>T), RS1001053429 (3:124924563 G>T), RS1001087176 (3:124933763 A>T), RS1001142007 (3:124912949 A>C), RS1001236640 (3:124913983 G>A), RS1001413216 (3:124932320 C>A)

Disease associations

OMIM: gene MIM:612181 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	3
Benzo(a)pyrene	decreases methylation, increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
Aflatoxin B1	increases expression	2
aristolochic acid I	increases expression	1
3,19-(2-bromobenzylidene)andrographolide	decreases response to substance, increases expression	1
lasiocarpine	increases expression	1
methyleugenol	increases expression	1
alpha phellandrene	decreases expression	1
hydroxyhydroquinone	increases expression	1
butyraldehyde	decreases expression	1
zinc chromate	affects expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
casticin	increases expression	1
chromium hexavalent ion	affects expression, increases abundance	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
jinfukang	decreases expression	1
(+)-JQ1 compound	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Decitabine	decreases expression, decreases reaction	1
Troglitazone	increases expression	1
Acetaminophen	increases expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
N-Nitrosopyrrolidine	increases expression	1
Quercetin	increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases reaction, decreases expression	1
Valproic Acid	decreases methylation	1
Okadaic Acid	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_C8D6	SW480 M13OE	Cancer cell line	Male
CVCL_C8D7	SW620 M13KD	Cancer cell line	Male

Clinical trials (associated diseases)

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