MUC19

Summary

MUC19 (mucin 19, oligomeric (gene/pseudogene), HGNC:14362) is a protein-coding gene on chromosome 12q12, encoding Mucin-19 (Q7Z5P9). May function in ocular mucus homeostasis.

This gene encodes a member of the gel-forming mucin protein family. Mucin family members are glycoproteins that have tandem repeats which are extensively O-glycosylated. The structural features of mucin proteins are responsible for the gel-like properties of mucus. The encoded protein may be involved in disruption of the ocular surface in Sjogren syndrome.

Source: NCBI Gene 283463 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 53 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14362
Approved symbol	MUC19
Name	mucin 19, oligomeric (gene/pseudogene)
Location	12q12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ35746
Ensembl gene	ENSG00000205592
Ensembl biotype	protein_coding
OMIM	612170
Entrez	283463

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 retained_intron, 4 protein_coding_CDS_not_defined, 1 protein_coding_LoF

ENST00000398702, ENST00000423284, ENST00000424466, ENST00000427572, ENST00000454784, ENST00000474954, ENST00000484665, ENST00000492952, ENST00000541039, ENST00000543564, ENST00000546043, ENST00000675969, ENST00000676020

RefSeq mRNA: 1 — MANE Select: None NM_173600

Canonical transcript exons

ENST00000398702 — 7 exons

Exon	Start	End
ENSE00001534475	40521625	40521679
ENSE00001534480	40521474	40521527
ENSE00001948483	40523589	40523642
ENSE00002234575	40523392	40523445
ENSE00002246452	40520915	40520968
ENSE00002311476	40520579	40520777
ENSE00002323657	40522643	40522696

Expression profiles

Bgee: expression breadth ubiquitous, 156 present calls, max score 96.83.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3847 / max 273.9651, expressed in 32 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
125047	0.3175	13
125052	0.0608	20
125053	0.0063	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	96.83	gold quality
left testis	UBERON:0004533	93.57	gold quality
right testis	UBERON:0004534	93.24	gold quality
minor salivary gland	UBERON:0001830	89.57	gold quality
testis	UBERON:0000473	89.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.35	gold quality
saliva-secreting gland	UBERON:0001044	84.28	gold quality
mouth mucosa	UBERON:0003729	83.72	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.74	gold quality
trachea	UBERON:0003126	75.58	gold quality
metanephros cortex	UBERON:0010533	73.00	gold quality
adenohypophysis	UBERON:0002196	69.36	gold quality
pituitary gland	UBERON:0000007	67.58	gold quality
buccal mucosa cell	CL:0002336	64.76	silver quality
metanephros	UBERON:0000081	63.38	gold quality
tonsil	UBERON:0002372	63.31	gold quality
anterior cingulate cortex	UBERON:0009835	61.99	gold quality
gall bladder	UBERON:0002110	61.91	gold quality
right frontal lobe	UBERON:0002810	61.47	gold quality
Brodmann (1909) area 9	UBERON:0013540	60.65	gold quality
stromal cell of endometrium	CL:0002255	60.46	gold quality
monocyte	CL:0000576	60.26	gold quality
bone marrow cell	CL:0002092	59.53	silver quality
cortex of kidney	UBERON:0001225	58.55	gold quality
leukocyte	CL:0000738	57.90	gold quality
sural nerve	UBERON:0015488	57.89	silver quality
adult mammalian kidney	UBERON:0000082	57.55	gold quality
descending thoracic aorta	UBERON:0002345	56.99	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	56.47	gold quality
right coronary artery	UBERON:0001625	53.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.59

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting MUC19, 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-3163	100.00	77.23	8605
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-1911-3P	99.15	66.17	528
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-4646-5P	97.70	66.84	1692
HSA-MIR-6735-3P	96.10	63.81	600

Literature-anchored findings (GeneRIF, showing 13)

• identification, cloning and expression of mucin 19; expression of this gene is restricted to the mucous cells of various glandular tissues (PMID:12882755)
• Results suggest that MUC19 is not a major component in human saliva. (PMID:18426393)
• Reflux laryngitis is associated with down-regulation of mucin gene expression. (PMID:18834073)
• MUC19 has significant potential to play a role in both physiology and pathophysiology of the middle ear. (PMID:19533339)
• Germline variation of the MUC19 gene is not attributable to the genomewide significant association of the 12q12 locus with Crohn Disease. (PMID:19714762)
• Presence of MUC 19 is suggestive of mucoepidermoid carcinoma (PMID:21072847)
• Single-nucleotide polymorphism in the MUC19 gene is associated with Crohn’s disease . (PMID:23619718)
• data find MUC19 transcripts in salivary glands of seven subjects and demonstrate MUC19 glycoproteins in glandular mucous cells and saliva. (PMID:25512380)
• results indicate the important role of polymorphic variants of gene MUC19 in the formation of a predisposition to the development of asthma in individuals of Russian ethnicity. (PMID:26845862)
• The findings suggest an oncogenic role for hsa_circ_0007534 in breast cancer by acting as a miR-593 sponge to promote MUC19 expression. (PMID:30139516)
• Hsa_circ_0001982 promotes the progression of breast cancer through miR-1287-5p/MUC19 axis under hypoxia. (PMID:34082777)
• Genomic profiling and the impact of MUC19 mutation in hepatoid adenocarcinoma of the stomach. (PMID:35851588)
• METTL3 aggravates cell damage induced by Streptococcus pneumoniae via the NEAT1/CTCF/MUC19 axis. (PMID:38757482)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Muc19	ENSMUSG00000118670
rattus_norvegicus	Muc19	ENSRNOG00000054624

Paralogs (19): CHRDL2 (ENSG00000054938), CHRD (ENSG00000090539), CHRDL1 (ENSG00000101938), TECTA (ENSG00000109927), VWF (ENSG00000110799), MUC5B (ENSG00000117983), KCP (ENSG00000135253), ZAN (ENSG00000146839), CRIM1 (ENSG00000150938), BMPER (ENSG00000164619), OTOGL (ENSG00000165899), VWCE (ENSG00000167992), VWC2L (ENSG00000174453), MUC6 (ENSG00000184956), OTOG (ENSG00000188162), VWC2 (ENSG00000188730), MUC2 (ENSG00000198788), MUC5AC (ENSG00000215182), FCGBP (ENSG00000275395)

Protein

Protein identifiers

Mucin-19 — Q7Z5P9 (reviewed: Q7Z5P9)

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. May function in ocular mucus homeostasis.

Subcellular location. Secreted.

Tissue specificity. Expressed corneal epithelial cells, conjunctival goblet and epithelial cells and lacrimal gland cells (at protein level). Expressed by mucous cells of the submandibular gland and submucosal gland of the trachea. Expressed by middle ear epithelial cells.

Induction. Down-regulated in Sjoegren syndrome patients (at protein level).

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z5P9-1	1	yes
Q7Z5P9-2	2

RefSeq proteins (1): NP_775871 (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001007	VWF_dom	Domain
IPR001846	VWF_type-D	Domain
IPR002919	TIL_dom	Domain
IPR006207	Cys_knot_C	Domain
IPR014853	VWF/SSPO/ZAN-like_Cys-rich_dom	Domain
IPR036084	Ser_inhib-like_sf	Homologous_superfamily
IPR058753	TIL_OTOGL_Mucin	Domain

Pfam: PF00094, PF01826, PF08742, PF25962

UniProt features (202 total): compositionally biased region 123, region of interest 32, sequence variant 24, disulfide bond 12, domain 5, splice variant 2, sequence conflict 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q7Z5P9 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

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 (12): 502–648, 817–952, 838–994, 857–865, 1276–1411, 1298–1446, 1307–1408, 1323–1330, 8288–8339, 8306–8353, 8315–8369, 8319–8371

Function

Pathways and Gene Ontology

Reactome pathways

6 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-977068	Termination of O-glycan biosynthesis

MSigDB gene sets: 31 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, chr12q12, GOCC_GOLGI_LUMEN, GSE14415_INDUCED_TREG_VS_FOXP3_KO_INDUCED_TREG_IL2_CULTURE_DN, SFMBT1_TARGET_GENES, ZFHX3_TARGET_GENES, ZNF22_TARGET_GENES, MIR670_3P, MANNO_MIDBRAIN_NEUROTYPES_HRGL3, MANNO_MIDBRAIN_NEUROTYPES_HNBML5, MANNO_MIDBRAIN_NEUROTYPES_HDA, MANNO_MIDBRAIN_NEUROTYPES_HNBGABA, MANNO_MIDBRAIN_NEUROTYPES_HGABA, GAO_LARGE_INTESTINE_ADULT_CG_GOBLET_CELL_SUBTYPE_2, DESCARTES_MAIN_FETAL_SLC26A4_PAEP_POSITIVE_CELLS

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (3): extracellular region (GO:0005576), Golgi lumen (GO:0005796), plasma membrane (GO:0005886)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Diseases associated with O-glycosylation of proteins	3
C-type lectin receptors (CLRs)	1
O-linked glycosylation	1
O-linked glycosylation of mucins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1
Golgi apparatus	1
intracellular organelle lumen	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

938 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MUC19	MUC5AC	P98088	798
MUC19	MUC12	Q9UKN1	776
MUC19	MUC7	Q8TAX7	772
MUC19	MUC15	Q8N387	769
MUC19	MUC20	Q8N307	761
MUC19	VWF	P04275	739
MUC19	MUC3A	Q02505	728
MUC19	MUC17	Q685J3	727
MUC19	MUC13	Q9H3R2	726
MUC19	MUC5B	Q9HC84	723
MUC19	MUC21	Q5SSG8	720
MUC19	MUC6	Q6W4X9	720
MUC19	MUC2	Q02817	717
MUC19	MUC4	Q99102	696
MUC19	MUC16	Q8WXI7	669

IntAct

4 interactions, top by confidence:

A	B	Type	Score
M		psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0JP43, A4H238, A4H239, A6H8Z2, F1LWT0, F6QRE9, O43493, O60721, P01042, P23327, P23499, P24054, P26436, P50289, P53353, P70663, Q06990, Q0P6D6, Q13342, Q14242, Q14515, Q28139, Q29125, Q2EG98, Q30KK3, Q3MIW9, Q5F378, Q5XHX6, Q62170, Q66HD8, Q6A058, Q6P752, Q6P902, Q70KF4, Q7L311, Q7Z5P9, Q7Z7G0, Q8BYU6, Q8C627, Q8CHD8

Diamond homologs: F1NBL0, F7A4A7, P0DM55, P98088, P98091, P98092, Q02817, Q28295, Q28833, Q2PC93, Q3ZCN5, Q62635, Q6PZE0, Q6W4X9, Q7Z5P9, Q80T03, Q80Z19, Q8T0W0, Q98UI9, Q9HC84, A0A2R4SV19, A1IKL3, P0DRJ1, P12021, P38565, A2VEC9, O55225, P04275, P80012, P98089, P98167, Q6ZRI0, Q700K0, Q8CG65, Q8CIZ8, O75443, P0DM56, P18614, Q28983, Q3U492

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	52
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000022608 (12:40536937 A>G), RS1000108484 (12:40518261 T>A), RS1000139744 (12:40517962 T>A,C), RS1000143280 (12:40406495 C>T), RS1000151023 (12:40426321 C>T), RS1000162648 (12:40539788 C>T), RS1000187722 (12:40504689 G>A), RS1000189237 (12:40501447 T>C), RS1000204167 (12:40429689 C>A,T), RS1000223959 (12:40391440 T>C), RS1000233584 (12:40512041 A>C), RS1000234838 (12:40492436 G>A), RS1000244076 (12:40405894 A>T), RS1000247273 (12:40494936 A>T), RS1000251052 (12:40532752 G>T)

Disease associations

OMIM: gene MIM:612170 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000207_11	Crohn’s disease	3.000000e-10
GCST000879_43	Crohn’s disease	6.000000e-21
GCST001725_24	Inflammatory bowel disease	6.000000e-29
GCST002929_5	Chromium levels	3.000000e-06
GCST003518_35	Daytime sleep phenotypes	8.000000e-07
GCST004131_46	Inflammatory bowel disease	3.000000e-15
GCST004132_23	Crohn’s disease	6.000000e-20
GCST010605_10	Parent of origin effect on receptive language ability (paternal)	5.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007828	daytime rest measurement
EFO:0005686	receptive language perception
EFO:0005939	parental genotype effect measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	3
Benzo(a)pyrene	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
sulforaphane	decreases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects cotreatment	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Eucalyptol	decreases expression	1
Demecolcine	increases expression	1
Doxorubicin	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Methapyrilene	decreases methylation	1
Methyl Methanesulfonate	increases expression	1
Tretinoin	increases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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