MUCL3

Summary

MUCL3 (mucin like 3, HGNC:21666) is a protein-coding gene on chromosome 6p21.33, encoding Mucin-like protein 3 (Q3MIW9). May modulate NF-kappaB signaling and play a role in cell growth.

Predicted to be located in cytoplasm and plasma membrane.

Source: NCBI Gene 135656 — RefSeq curated summary.

At a glance

• GWAS associations: 31
• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_080870

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21666
Approved symbol	MUCL3
Name	mucin like 3
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	PBLT, bCX105N19.6, C6orf37
Ensembl gene	ENSG00000168631
Ensembl biotype	protein_coding
OMIM	613928
Entrez	135656

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000462446

RefSeq mRNA: 1 — MANE Select: NM_080870 NM_080870

CCDS: CCDS4692

Canonical transcript exons

ENST00000462446 — 3 exons

Exon	Start	End
ENSE00001173960	30952971	30954221
ENSE00001944219	30940973	30941081
ENSE00003691537	30948547	30952499

Expression profiles

Bgee: expression breadth broad, 51 present calls, max score 93.92.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.7760 / max 1097.8763, expressed in 15 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66846	0.7760	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	93.92	gold quality
lower esophagus mucosa	UBERON:0035834	84.99	gold quality
body of stomach	UBERON:0001161	84.41	gold quality
stomach	UBERON:0000945	81.68	gold quality
gall bladder	UBERON:0002110	74.72	gold quality
esophagus mucosa	UBERON:0002469	73.21	gold quality
fundus of stomach	UBERON:0001160	70.18	gold quality
upper lobe of left lung	UBERON:0008952	68.31	gold quality
right lung	UBERON:0002167	66.37	gold quality
islet of Langerhans	UBERON:0000006	65.90	gold quality
lung	UBERON:0002048	63.69	gold quality
esophagus	UBERON:0001043	56.04	gold quality
vagina	UBERON:0000996	54.91	gold quality
duodenum	UBERON:0002114	49.72	gold quality
colonic epithelium	UBERON:0000397	49.65	gold quality
pancreas	UBERON:0001264	49.30	gold quality
uterine cervix	UBERON:0000002	43.82	gold quality
ectocervix	UBERON:0012249	43.45	gold quality
ventricular zone	UBERON:0003053	43.36	gold quality
right uterine tube	UBERON:0001302	42.75	silver quality
bone marrow cell	CL:0002092	42.37	gold quality
muscle tissue	UBERON:0002385	41.96	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	41.44	gold quality
body of pancreas	UBERON:0001150	40.55	gold quality
liver	UBERON:0002107	40.53	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	38.70	gold quality
tibial nerve	UBERON:0001323	38.55	silver quality
calcaneal tendon	UBERON:0003701	38.48	gold quality
vermiform appendix	UBERON:0001154	38.37	silver quality
urinary bladder	UBERON:0001255	37.47	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

78 targeting MUCL3, 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-1252-5P	100.00	69.80	2774
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-7-5P	99.67	70.53	1809

Literature-anchored findings (GeneRIF, showing 3)

• C6orf37OS (C6orf37 Opposite Strand). Unexpectedly, RT-PCR analysis detected transcripts from the anti-sense DNA strand of this C6orf37 locus in numerous tissues, with most-abundant expression in lung, kidney, and testis. (PMID:12185533)
• results show that polymorphisms in DPCR1 are not associated with the risk of aspirin-exacerbated respiratory disease in Korean asthmatics (PMID:22152429)
• In addition, the results of RNA deep sequencing and qRT-PCR assay showed that DPCR1 participated in PADC progression by regulating nuclear factor-kappa B signaling pathway, suggesting that it might be a novel oncogene in tumor progression and a potential therapeutic target in PDAC as well. (PMID:29242154)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mucl3	ENSMUSG00000073408
rattus_norvegicus	Mucl3	ENSRNOG00000042287

Protein

Protein identifiers

Mucin-like protein 3 — Q3MIW9 (reviewed: Q3MIW9)

Alternative names: Diffuse panbronchiolitis critical region protein 1

All UniProt accessions (1): E9PEI6

UniProt curated annotations — full annotation on UniProt →

Function. May modulate NF-kappaB signaling and play a role in cell growth.

Subcellular location. Cell membrane. Cytoplasm.

Tissue specificity. Detected in lung, esophagus, stomach, rectum, skin, cervix, testis, kidney, uterus and small intestine. Expressed in pancreas (at protein level).

Isoforms (2)

UniProt ID	Names	Canonical?
Q3MIW9-1	1	yes
Q3MIW9-2	2

RefSeq proteins (1): NP_543146* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026623	MUCL3	Family

UniProt features (23 total): compositionally biased region 9, glycosylation site 3, sequence variant 3, splice variant 2, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3MIW9-F1	47.09	0.04

Functional residue map

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

Glycosylation sites (3): 88, 124, 338

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 34 (showing top): ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, MODULE_49, FOXN3_TARGET_GENES, SFMBT1_TARGET_GENES, MIR335_3P, MIR7106_5P, MIR5683, MIR6077, MIR6780A_5P, MIR1273H_5P, MIR6779_5P, MIR30B_3P, MIR3689A_3P_MIR3689B_3P_MIR3689C, MIR1245B_3P, MIR3667_3P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (3): cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
intracellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

910 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MUCL3	PRR3	P79522	539
MUCL3	SFTA2	Q6UW10	479
MUCL3	SPANXN2	Q5MJ10	479
MUCL3	VARS1	P26640	447
MUCL3	MUC21	Q5SSG8	447
MUCL3	KRTAP10-3	P60369	447
MUCL3	MUC22	E2RYF6	445
MUCL3	RPF2	Q9H7B2	422
MUCL3	VARS2	Q5ST30	420
MUCL3	PPP1R11	O60927	413
MUCL3	TRIM26	Q12899	404
MUCL3	C6orf136	Q5SQH8	396
MUCL3	PRB3	Q04118	395
MUCL3	GAGE12J	A6NER3	394
MUCL3	FRG1	Q14331	381

IntAct

0 interactions, top by confidence:

BioGRID (3): DPCR1 (Cross-Linking-MS (XL-MS)), DPCR1 (Affinity Capture-MS), APP (Reconstituted Complex)

ESM2 similar proteins: A0A2R8Y7Y5, A1KXC4, A6QLF8, J3KML8, O00592, O35188, O55145, O57604, P06484, P07141, P13838, P14220, P15702, P16150, P18827, P20934, P26260, P34740, P47951, P59647, P78423, P97808, Q08DZ5, Q1ECS6, Q28270, Q28645, Q29RT9, Q3MIW9, Q3TNW5, Q52S86, Q58Y74, Q5RAF8, Q62170, Q64314, Q6MG22, Q6P9X9, Q6UWI2, Q6UXF1, Q86YL7, Q8BHE4

Diamond homologs: Q3MIW9, Q3TNW5, Q6MG22

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

210 predictions. Top by Δscore:

Variant	Effect	Δscore
6:30952965:TCACA:T	acceptor_loss	0.9800
6:30952966:CACA:C	acceptor_loss	0.9800
6:30952968:CA:C	acceptor_loss	0.9800
6:30952970:G:A	acceptor_loss	0.9800
6:30941079:CAGGT:C	donor_loss	0.9700
6:30941080:AG:A	donor_loss	0.9700
6:30941081:GG:G	donor_loss	0.9700
6:30941082:G:C	donor_loss	0.9700
6:30941083:T:A	donor_loss	0.9700
6:30952969:A:AG	acceptor_gain	0.9600
6:30952970:G:GG	acceptor_gain	0.9600
6:30948541:CCACA:C	acceptor_loss	0.9500
6:30948542:CACAG:C	acceptor_loss	0.9500
6:30948543:ACAGG:A	acceptor_loss	0.9500
6:30948544:C:G	acceptor_loss	0.9500
6:30948545:A:AC	acceptor_loss	0.9500
6:30948546:G:GA	acceptor_loss	0.9500
6:30952964:A:G	acceptor_gain	0.9400
6:30941077:GGCAG:G	donor_gain	0.9300
6:30941078:GCAGG:G	donor_gain	0.9300
6:30941079:C:T	donor_gain	0.9300
6:30941078:GCAG:G	donor_gain	0.9200
6:30952963:A:AG	acceptor_gain	0.9100
6:30952970:GGT:G	acceptor_gain	0.9100
6:30952496:CTTG:C	donor_loss	0.9000
6:30952498:TGG:T	donor_loss	0.9000
6:30952499:GGT:G	donor_loss	0.9000
6:30952501:T:TC	donor_loss	0.9000
6:30952500:G:GG	donor_gain	0.8900
6:30952502:A:AG	donor_loss	0.8900

AlphaMissense

9029 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:30952431:T:A	W447R	0.975
6:30952431:T:C	W447R	0.975
6:30953068:T:C	L502P	0.962
6:30952422:T:C	F444L	0.959
6:30952424:C:A	F444L	0.959
6:30952424:C:G	F444L	0.959
6:30952433:G:C	W447C	0.949
6:30952433:G:T	W447C	0.949
6:30952485:G:C	G465R	0.949
6:30953072:G:A	M503I	0.930
6:30953072:G:C	M503I	0.930
6:30953072:G:T	M503I	0.930
6:30953074:A:T	E504V	0.923
6:30952423:T:G	F444C	0.919
6:30953062:T:A	V500D	0.914
6:30953075:G:C	E504D	0.910
6:30953075:G:T	E504D	0.910
6:30953078:G:C	Q505H	0.903
6:30953078:G:T	Q505H	0.903
6:30953081:G:C	Q506H	0.903
6:30953081:G:T	Q506H	0.903
6:30952441:T:A	V450D	0.889
6:30953055:T:C	Y498H	0.888
6:30953055:T:G	Y498D	0.885
6:30952453:T:G	L454R	0.881
6:30952438:T:A	I449K	0.880
6:30952486:G:A	G465D	0.880
6:30941048:T:C	C17R	0.877
6:30953059:C:A	P499Q	0.877
6:30952459:C:A	A456D	0.869

dbSNP variants (sampled 300 via entrez): RS1000221734 (6:30941889 A>T), RS1000631747 (6:30952726 G>T), RS1000696070 (6:30944030 T>C), RS1001103911 (6:30947837 C>A,T), RS1001154652 (6:30948278 G>A), RS1001314665 (6:30944133 C>A,T), RS1001626802 (6:30943692 A>C,G), RS1001694888 (6:30949606 C>T), RS1001776098 (6:30951155 A>C), RS1002041757 (6:30951970 A>C), RS1002090854 (6:30952273 T>C), RS1002161997 (6:30950075 A>G), RS1002247745 (6:30943404 G>A,C), RS1002696148 (6:30947230 T>C), RS1002748793 (6:30947890 C>A,T)

Disease associations

OMIM: gene MIM:613928 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

31 associations (top):

Study	Trait	p-value
GCST000549_35	HIV-1 control	1.000000e-06
GCST000984_18	Idiopathic membranous nephropathy	3.000000e-40
GCST001784_12	Pulmonary function (smoking interaction)	1.000000e-07
GCST001784_34	Pulmonary function (smoking interaction)	1.000000e-07
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_131	Autism spectrum disorder or schizophrenia	2.000000e-10
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_265	Autism spectrum disorder or schizophrenia	7.000000e-14
GCST004521_27	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_3	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_33	Autism spectrum disorder or schizophrenia	1.000000e-08
GCST004521_48	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004521_70	Autism spectrum disorder or schizophrenia	8.000000e-20
GCST004899_4	Gestational age at birth (maternal effect)	2.000000e-06
GCST004946_173	Schizophrenia	2.000000e-08
GCST005790_57	Rosacea symptom severity	2.000000e-07
GCST007201_370	Schizophrenia	4.000000e-20
GCST010002_50	Refractive error	4.000000e-34
GCST010083_219	Hemoglobin levels	3.000000e-34
GCST010725_70	Malaria	5.000000e-06
GCST010725_9	Malaria	6.000000e-06
GCST011354_25	Bell’s palsy	5.000000e-06

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0000180	HIV-1 infection
EFO:0003892	pulmonary function measurement
EFO:0004713	FEV/FVC ratio
EFO:0005112	gestational age
EFO:0005939	parental genotype effect measurement
EFO:0009180	rosacea severity measurement
EFO:0004509	hemoglobin measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs3094086	Toxicity	3	carboplatin;gemcitabine	Non-Small Cell Lung Carcinoma;Thrombocytopenia

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs3094086	HCG21, MUCL3	3	2.50	1	carboplatin;gemcitabine

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation, increases mutagenesis	3
aristolochic acid I	increases expression	1
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Fulvestrant	increases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Atrazine	increases expression	1
Cadmium	decreases expression, increases abundance	1
Cannabidiol	increases expression	1
Catechin	affects cotreatment, decreases expression	1
Fenfluramine	increases expression	1
Rotenone	increases expression	1
Tobacco Smoke Pollution	increases methylation	1
Aflatoxin B1	increases methylation	1
Gold Compounds	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1
Okadaic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 1 spontaneously immortalized cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E6RA	Genomeditech CHO-K1 H_MUCL3(C6orf37)	Spontaneously immortalized cell line	Female
CVCL_E6UN	Genomeditech HEK-293 H_MUCL3(C6orf37)	Transformed cell line	Female

Clinical trials (associated diseases)

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