MUC22

Summary

MUC22 (mucin 22, HGNC:39755) is a protein-coding gene on chromosome 6p21.33, encoding Mucin-22 (E2RYF6).

Predicted to be located in membrane.

Source: NCBI Gene 100507679 — RefSeq curated summary.

At a glance

• GWAS associations: 56
• Clinical variants (ClinVar): 319 total
• MANE Select transcript: NM_001395414

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:39755
Approved symbol	MUC22
Name	mucin 22
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	PBMUCL1
Ensembl gene	ENSG00000261272
Ensembl biotype	protein_coding
OMIM	613917
Entrez	100507679

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000561890

RefSeq mRNA: 3 — MANE Select: NM_001395414 NM_001198815, NM_001318484, NM_001395414

CCDS: CCDS59003

Canonical transcript exons

ENST00000561890 — 4 exons

Exon	Start	End
ENSE00001748188	31032196	31032581
ENSE00002595080	31010474	31010776
ENSE00002609484	31025502	31030100
ENSE00002613931	31034672	31035402

Expression profiles

Bgee: expression breadth broad, 19 present calls, max score 83.34.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.34	gold quality
lower esophagus mucosa	UBERON:0035834	63.74	gold quality
esophagus mucosa	UBERON:0002469	59.78	gold quality
vagina	UBERON:0000996	48.26	gold quality
esophagus	UBERON:0001043	43.79	gold quality
tonsil	UBERON:0002372	41.26	silver quality
skeletal muscle tissue	UBERON:0001134	40.87	gold quality
granulocyte	CL:0000094	38.97	gold quality
ganglionic eminence	UBERON:0004023	38.76	gold quality
bone marrow cell	CL:0002092	38.11	gold quality
apex of heart	UBERON:0002098	37.42	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
heart left ventricle	UBERON:0002084	36.75	silver quality
muscle of leg	UBERON:0001383	36.72	silver quality
muscle tissue	UBERON:0002385	36.57	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
gastrocnemius	UBERON:0001388	35.67	silver quality
ectocervix	UBERON:0012249	35.17	gold quality
sural nerve	UBERON:0015488	35.00	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	34.04	gold quality
uterine cervix	UBERON:0000002	33.21	gold quality
leukocyte	CL:0000738	32.98	gold quality
monocyte	CL:0000576	32.82	gold quality
bone marrow	UBERON:0002371	32.74	gold quality
body of pancreas	UBERON:0001150	32.26	gold quality
urinary bladder	UBERON:0001255	31.37	gold quality
gall bladder	UBERON:0002110	30.75	gold quality
liver	UBERON:0002107	30.31	gold quality
prefrontal cortex	UBERON:0000451	30.06	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting MUC22, 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-4262	100.00	73.26	3931
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
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-433-3P	99.98	69.37	1203
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-6871-5P	98.90	66.67	671
HSA-MIR-4725-5P	98.67	65.42	628
HSA-MIR-504-5P	98.67	65.40	631
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-219B-5P	97.91	65.80	531
HSA-MIR-30C-1-3P	97.80	66.36	1499

Literature-anchored findings (GeneRIF, showing 4)

• The mucin-like gene PBMUCL1 is also one of the candidate genes of Diffuse panbronchiolitis susceptibility. (PMID:20981447)
• Genes TGFB1, TLE4 and MUC22 are associated with the risk of childhood asthma in Chinese population. (PMID:28262390)
• Differential MUC22 expression by epigenetic alterations in human lung squamous cell carcinoma and adenocarcinoma. (PMID:33786615)
• MUC22, HLA-A, and HLA-DOB variants and COVID-19 in resilient super-agers from Brazil. (PMID:36389712)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Mucin-22 — E2RYF6 (reviewed: E2RYF6)

Alternative names: Panbronchiolitis-related mucin-like protein 1

All UniProt accessions (1): E2RYF6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Expressed in lung by serous cells of the submucosal gland (at protein level). Detected in the placenta, lung and testis.

Induction. Up-regulated by poly(I:C).

RefSeq proteins (3): NP_001185744, NP_001305413, NP_001382343* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028199	Mucin_dom	Domain
IPR053330	Mucin-22-like	Family

Pfam: PF14654

UniProt features (26 total): compositionally biased region 10, region of interest 9, topological domain 2, signal peptide 1, chain 1, sequence variant 1, sequence conflict 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-E2RYF6-F1	67.14	0.04

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 20 (showing top): ID1_TARGET_GENES, MIR4262, MIR181A_5P_MIR181B_5P, MIR181D_5P, MIR181C_5P, MIR29B_3P_MIR29C_3P, MIR29A_3P, MIR8085, MIR6731_5P, MIR1291, MIR6775_3P, SMN1_SMN2_TARGET_GENES, DESCARTES_MAIN_FETAL_CORNEAL_AND_CONJUNCTIVAL_EPITHELIAL_CELLS, DESCARTES_FETAL_LUNG_SQUAMOUS_EPITHELIAL_CELLS, NABA_ECM_AFFILIATED

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

320 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MUC22	MUC12	Q9UKN1	737
MUC22	MUC4	Q99102	701
MUC22	MUC20	Q8N307	696
MUC22	MUC15	Q8N387	696
MUC22	MUC19	Q7Z5P9	667
MUC22	MUC7	Q8TAX7	659
MUC22	MUC13	Q9H3R2	645
MUC22	MUC3A	Q02505	624
MUC22	MUC1	P13931	596
MUC22	MUC17	Q685J3	594
MUC22	MUC5B	Q9HC84	573
MUC22	MUC6	Q6W4X9	556
MUC22	MUC16	Q8WXI7	540
MUC22	CCHCR1	Q8TD31	534
MUC22	MUC5AC	P98088	532

IntAct

2 interactions, top by confidence:

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

BioGRID (1): MUC22 (Affinity Capture-MS)

ESM2 similar proteins: A0A023PXQ4, A0A0U1RQI7, A6NJU9, A6NNC1, A8MRT5, A8MUU9, C9JG80, E2RYF6, E5RHQ5, F8W0I5, O13534, O59779, P08399, P0C732, P0C785, P0DTH6, P0DW28, P13208, P15941, P21787, P24856, P39564, P51861, P87269, Q00130, Q01456, Q12444, Q13117, Q1HVI8, Q27905, Q2EEQ3, Q4ZJY7, Q4ZJZ0, Q5SDL7, Q63661, Q69577, Q6B0Y1, Q6RY98, Q6ZQT0, Q6ZRX8

Diamond homologs: E2RYF6, Q5SSG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	264
Likely benign	48
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

522 predictions. Top by Δscore:

Variant	Effect	Δscore
6:31010777:G:GG	donor_gain	1.0000
6:31024289:GGATC:G	donor_gain	0.9900
6:31034670:A:AG	acceptor_gain	0.9900
6:31034671:G:GG	acceptor_gain	0.9900
6:31010774:CCA:C	donor_gain	0.9800
6:31010775:CA:C	donor_gain	0.9800
6:31034671:GA:G	acceptor_gain	0.9800
6:31010772:ACCCA:A	donor_gain	0.9700
6:31010773:CCCA:C	donor_gain	0.9700
6:31010773:CCCAG:C	donor_loss	0.9700
6:31010774:CCAG:C	donor_loss	0.9700
6:31010775:CAG:C	donor_loss	0.9700
6:31010776:AG:A	donor_loss	0.9700
6:31010778:TAAG:T	donor_loss	0.9700
6:31010779:AAGT:A	donor_loss	0.9700
6:31029966:GCTC:G	donor_gain	0.9700
6:31032417:G:GT	donor_gain	0.9700
6:31032565:GAC:G	donor_gain	0.9700
6:31034671:GAGA:G	acceptor_gain	0.9700
6:31034671:GAGAA:G	acceptor_gain	0.9700
6:31034719:T:TA	acceptor_gain	0.9700
6:31024306:G:GA	donor_gain	0.9600
6:31032418:A:T	donor_gain	0.9600
6:31034666:TTTTA:T	acceptor_loss	0.9600
6:31034670:A:AC	acceptor_loss	0.9600
6:31034671:G:GA	acceptor_loss	0.9600
6:31024305:T:TA	donor_gain	0.9500
6:31025496:C:G	acceptor_gain	0.9500
6:31030097:TCAG:T	donor_loss	0.9500
6:31030098:CAGG:C	donor_loss	0.9500

AlphaMissense

11122 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:31032552:G:A	G1676R	0.961
6:31032552:G:C	G1676R	0.961
6:31032507:T:A	W1661R	0.927
6:31032507:T:C	W1661R	0.927
6:31032535:C:A	A1670E	0.926
6:31032544:C:A	A1673D	0.924
6:31032553:G:A	G1676E	0.922
6:31032564:G:A	G1680R	0.921
6:31032564:G:C	G1680R	0.921
6:31032532:C:A	A1669D	0.908
6:31032547:C:A	A1674D	0.898
6:31032534:G:C	A1670P	0.896
6:31032509:G:C	W1661C	0.891
6:31032509:G:T	W1661C	0.891
6:31032550:T:A	V1675D	0.889
6:31032538:T:A	V1671D	0.883
6:31032529:T:C	L1668P	0.873
6:31032529:T:G	L1668R	0.868
6:31032565:G:A	G1680E	0.865
6:31032573:T:C	F1683L	0.857
6:31032575:T:A	F1683L	0.857
6:31032575:T:G	F1683L	0.857
6:31032543:G:C	A1673P	0.834
6:31032570:A:C	S1682R	0.833
6:31032572:T:A	S1682R	0.833
6:31032572:T:G	S1682R	0.833
6:31032541:T:A	V1672E	0.826
6:31032546:G:C	A1674P	0.826
6:31034843:T:C	F1743L	0.802
6:31034845:T:A	F1743L	0.802

dbSNP variants (sampled 300 via entrez): RS1000069205 (6:31012720 C>T), RS1000099448 (6:31021928 T>A,C,G), RS1000175654 (6:30989774 T>C), RS1000334988 (6:31017458 A>C), RS1000463453 (6:31021239 C>G), RS1000619275 (6:31030033 C>G,T), RS1000695625 (6:31023120 A>C), RS1000723137 (6:31020624 C>G,T), RS1000766113 (6:31024810 T>C), RS1001062150 (6:31012409 G>A,C), RS1001091231 (6:30996327 C>T), RS1001103207 (6:31028562 C>A), RS1001248730 (6:30991531 G>C), RS1001284461 (6:31005868 G>C), RS1001355253 (6:31006171 A>C)

Disease associations

OMIM: gene MIM:613917 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

56 associations (top):

Study	Trait	p-value
GCST002837_1	Change in intraocular pressure in response to steroid treatment (triamcinolone acetonide)	5.000000e-09
GCST003123_16	Severe influenza A (H1N1) infection	2.000000e-14
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_132	Autism spectrum disorder or schizophrenia	2.000000e-09
GCST004521_171	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_19	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_2	Autism spectrum disorder or schizophrenia	2.000000e-16
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_210	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_229	Autism spectrum disorder or schizophrenia	4.000000e-11
GCST004521_257	Autism spectrum disorder or schizophrenia	6.000000e-10
GCST004521_265	Autism spectrum disorder or schizophrenia	7.000000e-14
GCST004521_27	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004521_282	Autism spectrum disorder or schizophrenia	5.000000e-09
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_3	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_48	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004521_70	Autism spectrum disorder or schizophrenia	8.000000e-20
GCST004748_105	Lung cancer	3.000000e-17
GCST004750_54	Squamous cell lung carcinoma	6.000000e-16
GCST008163_465	Height	4.000000e-07
GCST008386_1	Carbamazepine-induced serious cutaneous adverse reaction	2.000000e-06
GCST010002_46	Refractive error	2.000000e-20
GCST010725_70	Malaria	5.000000e-06
GCST010725_9	Malaria	6.000000e-06
GCST010867_62	Coronary artery disease	1.000000e-18
GCST011938_7	Takayasu arteritis	5.000000e-31
GCST012194_4	Obsessive-compulsive traits	5.000000e-06

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0006956	intraocular pressure change measurement
EFO:1001488	influenza A (H1N1)
EFO:0008039	BMI-adjusted hip circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007874	gut microbiome measurement
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	decreases expression	1
tetrabromobisphenol A	increases expression	1
2-palmitoylglycerol	increases expression	1
clothianidin	increases expression	1

Clinical trials (associated diseases)

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