MPZL3

Summary

MPZL3 (myelin protein zero like 3, HGNC:27279) is a protein-coding gene on chromosome 11q23.3, encoding Myelin protein zero-like protein 3 (Q6UWV2). Mediates homophilic cell-cell adhesion.

Predicted to be involved in cell adhesion. Predicted to act upstream of or within extracellular matrix organization and hair cycle. Predicted to be located in membrane. Predicted to be active in plasma membrane. Implicated in lung cancer.

Source: NCBI Gene 196264 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 54 total
• MANE Select transcript: NM_198275

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27279
Approved symbol	MPZL3
Name	myelin protein zero like 3
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000160588
Ensembl biotype	protein_coding
OMIM	611707
Entrez	196264

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay

ENST00000278949, ENST00000446386, ENST00000525386, ENST00000527472

RefSeq mRNA: 2 — MANE Select: NM_198275 NM_001286152, NM_198275

CCDS: CCDS66241, CCDS8392

Canonical transcript exons

ENST00000278949 — 6 exons

Exon	Start	End
ENSE00000991465	118237050	118237260
ENSE00001279922	118240211	118240377
ENSE00001417027	118226690	118229920
ENSE00002164579	118252222	118252365
ENSE00003510981	118235424	118235589
ENSE00003579489	118233460	118233523

Expression profiles

Bgee: expression breadth ubiquitous, 202 present calls, max score 97.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6242 / max 223.1373, expressed in 1128 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122589	8.5904	1128
122586	0.0338	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	97.33	gold quality
oviduct epithelium	UBERON:0004804	97.00	gold quality
upper arm skin	UBERON:0004263	96.93	gold quality
lower esophagus mucosa	UBERON:0035834	95.72	gold quality
amniotic fluid	UBERON:0000173	95.19	gold quality
esophagus squamous epithelium	UBERON:0006920	93.96	gold quality
upper leg skin	UBERON:0004262	93.69	gold quality
oral cavity	UBERON:0000167	92.86	gold quality
blood	UBERON:0000178	91.60	gold quality
mammalian vulva	UBERON:0000997	90.86	gold quality
penis	UBERON:0000989	90.78	gold quality
skin of abdomen	UBERON:0001416	89.77	gold quality
pharyngeal mucosa	UBERON:0000355	89.58	gold quality
esophagus mucosa	UBERON:0002469	89.22	gold quality
zone of skin	UBERON:0000014	89.04	gold quality
skin of leg	UBERON:0001511	88.80	gold quality
bronchial epithelial cell	CL:0002328	87.30	gold quality
bronchus	UBERON:0002185	86.67	gold quality
epithelial cell of pancreas	CL:0000083	85.71	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.33	gold quality
granulocyte	CL:0000094	82.80	gold quality
bone marrow	UBERON:0002371	82.57	gold quality
gingiva	UBERON:0001828	82.54	gold quality
palpebral conjunctiva	UBERON:0001812	82.44	gold quality
mouth mucosa	UBERON:0003729	82.08	gold quality
vagina	UBERON:0000996	82.07	gold quality
islet of Langerhans	UBERON:0000006	81.68	gold quality
minor salivary gland	UBERON:0001830	81.37	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.17	gold quality
tonsil	UBERON:0002372	80.94	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-97	yes	1350.81
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

113 targeting MPZL3, 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-3613-3P	100.00	76.36	7965
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-186-5P	99.99	70.83	3707
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-5696	99.98	72.36	4487
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872

Literature-anchored findings (GeneRIF, showing 1)

• Homozygous or compound heterozygous mutations of MPZL3 might be involved in immune-mediated human hereditary disorders with hair loss. (PMID:19054061)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000101913
mus_musculus	Mpzl3	ENSMUSG00000070305
rattus_norvegicus	Mpzl3	ENSRNOG00000068913

Paralogs (6): MPZL2 (ENSG00000149573), SCN2B (ENSG00000149575), MPZ (ENSG00000158887), JAML (ENSG00000160593), SCN4B (ENSG00000177098), MPZL1 (ENSG00000197965)

Protein

Protein identifiers

Myelin protein zero-like protein 3 — Q6UWV2 (reviewed: Q6UWV2)

All UniProt accessions (2): Q6UWV2, E9PPB1

UniProt curated annotations — full annotation on UniProt →

Function. Mediates homophilic cell-cell adhesion.

Subcellular location. Membrane.

Similarity. Belongs to the myelin P0 protein family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6UWV2-1	1	yes
Q6UWV2-2	2
Q6UWV2-3	3

RefSeq proteins (2): NP_001273081, NP_938016* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000920	Myelin_P0-rel	Family
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily

Pfam: PF07686

UniProt features (15 total): sequence variant 4, splice variant 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UWV2-F1	80.54	0.55

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 (1): 52–128

Glycosylation sites (1): 123

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 105 (showing top): GOBP_MOLTING_CYCLE, GFI1_01, NRF2_01, CETS1P54_01, WGTTNNNNNAAA_UNKNOWN, SCGGAAGY_ELK1_02, MGGAAGTG_GABP_B, CCGNMNNTNACG_UNKNOWN, ELK1_02, FEVR_CTNNB1_TARGETS_UP, CAMP_UP.V1_DN, DIDO1_TARGET_GENES, E2F2_TARGET_GENES, MSX1_TARGET_GENES, SRSF9_TARGET_GENES

GO Biological Process (3): cell adhesion (GO:0007155), extracellular matrix organization (GO:0030198), hair cycle (GO:0042633)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
extracellular structure organization	1
external encapsulating structure organization	1
molting cycle	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

592 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MPZL3	ZNF750	Q32MQ0	473
MPZL3	PAFAH2	Q99487	429
MPZL3	P0DN79	P0DN79	384
MPZL3	APOBR	Q0VD83	382
MPZL3	STK32B	Q9NY57	365
MPZL3	A0A087WZ82	A0A087WZ82	355
MPZL3	FXYD6	Q9H0Q3	355
MPZL3	PROSER2	Q86WR7	353
MPZL3	CT45A2	Q5DJT8	350
MPZL3	FDXR	P22570	339
MPZL3	CMTM8	Q8IZV2	331
MPZL3	TMEM154	Q6P9G4	325
MPZL3	CCDC80	Q76M96	322
MPZL3	HSF5	Q4G112	321
MPZL3	EXOC6B	Q9Y2D4	321

IntAct

11 interactions, top by confidence:

A	B	Type	Score
MPZL2	MPZL3	psi-mi:“MI:0915”(physical association)	0.670
MPZL2	MPZL3	psi-mi:“MI:0407”(direct interaction)	0.670
MPZL3	MPZL2	psi-mi:“MI:0407”(direct interaction)	0.670
FLOT2	MPC2	psi-mi:“MI:0914”(association)	0.530
MPZL3	SMYD2	psi-mi:“MI:0915”(physical association)	0.400
TMEM79	B3GAT3	psi-mi:“MI:0914”(association)	0.350
FLOT2	SRC	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): MPZL3 (Affinity Capture-MS), MPZL3 (Affinity Capture-MS), SMYD2 (Proximity Label-MS), MPZL3 (Affinity Capture-RNA), MPZL3 (Affinity Capture-MS), MPZL3 (Affinity Capture-MS), MPZL2 (Reconstituted Complex)

ESM2 similar proteins: A0A8M2B818, A3KPA0, A5D7C3, B0JYH6, O35112, O46634, O46651, O88792, P17790, P18461, P18572, P21802, P21803, P26453, P35613, P42292, P57087, P78310, P97792, Q01638, Q13740, Q15198, Q1WIM2, Q2PFX1, Q2WGK2, Q3V3F6, Q5R764, Q5RJP7, Q61490, Q66KX2, Q68FQ2, Q6DJ83, Q6PE55, Q6UWV2, Q7ZXX1, Q8BLQ9, Q8N3J6, Q8WMV3, Q90Y50, Q99795

Diamond homologs: A0JM41, A2VD98, A5D7C3, O60487, O60939, O70255, O95297, P06907, P10522, P20938, P25189, P27573, P37301, P54900, Q29RR6, Q32PI9, Q3TEW6, Q3V3F6, Q4KLY3, Q5EAB0, Q5R804, Q6AYT8, Q6UWV2, Q6WEB5, Q7M729, Q7M730, Q86XK7, Q8AVM3, Q8IWT1, Q9D2J4, Q9PWR4, Q08E08, P78310, P97792, Q56A07, Q5R764, Q864L3, Q86YT9, Q8WMV3, Q91664

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	1
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1253 predictions. Top by Δscore:

Variant	Effect	Δscore
11:118233519:CAGTG:C	acceptor_gain	1.0000
11:118233521:GTGC:G	acceptor_loss	1.0000
11:118233522:TG:T	acceptor_gain	1.0000
11:118233523:GCT:G	acceptor_loss	1.0000
11:118233524:C:CC	acceptor_gain	1.0000
11:118233525:T:C	acceptor_loss	1.0000
11:118235033:AAAG:A	donor_gain	1.0000
11:118240209:A:AC	donor_gain	1.0000
11:118240210:C:CT	donor_gain	1.0000
11:118252217:CTCA:C	donor_loss	1.0000
11:118252218:TCAC:T	donor_loss	1.0000
11:118252219:CAC:C	donor_loss	1.0000
11:118252220:A:AC	donor_gain	1.0000
11:118252220:AC:A	donor_gain	1.0000
11:118252221:C:CC	donor_gain	1.0000
11:118252221:CC:C	donor_gain	1.0000
11:118227130:A:C	acceptor_gain	0.9900
11:118232625:A:C	donor_gain	0.9900
11:118233453:CACT:C	donor_loss	0.9900
11:118233454:ACTTA:A	donor_loss	0.9900
11:118233455:CTT:C	donor_loss	0.9900
11:118233456:TTA:T	donor_loss	0.9900
11:118233457:TAC:T	donor_loss	0.9900
11:118233458:A:AC	donor_gain	0.9900
11:118233458:ACCAG:A	donor_loss	0.9900
11:118233459:C:CC	donor_gain	0.9900
11:118233459:C:T	donor_loss	0.9900
11:118233520:AGTG:A	acceptor_gain	0.9900
11:118233521:GTG:G	acceptor_gain	0.9900
11:118233526:G:C	acceptor_gain	0.9900

AlphaMissense

1528 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:118240249:A:G	W68R	0.999
11:118240249:A:T	W68R	0.999
11:118237118:C:G	C128S	0.998
11:118237118:C:T	C128Y	0.998
11:118237119:A:T	C128S	0.998
11:118237163:A:T	I113K	0.998
11:118237205:C:G	R99P	0.998
11:118240247:C:A	W68C	0.998
11:118240247:C:G	W68C	0.998
11:118240296:C:G	C52S	0.998
11:118240297:A:T	C52S	0.998
11:118237117:A:C	C128W	0.997
11:118237119:A:G	C128R	0.997
11:118237124:A:G	F126S	0.997
11:118237214:A:C	F96C	0.997
11:118240297:A:G	C52R	0.997
11:118240302:A:G	L50S	0.997
11:118237195:C:A	W102C	0.996
11:118237195:C:G	W102C	0.996
11:118237061:A:T	V147D	0.995
11:118237067:A:G	L145P	0.995
11:118237130:C:T	G124E	0.995
11:118237163:A:C	I113R	0.995
11:118237167:A:G	S112P	0.995
11:118237197:A:G	W102R	0.995
11:118237197:A:T	W102R	0.995
11:118240289:G:C	F54L	0.995
11:118240289:G:T	F54L	0.995
11:118240291:A:G	F54L	0.995
11:118240295:G:C	C52W	0.995

dbSNP variants (sampled 300 via entrez): RS1000132067 (11:118230786 A>G), RS1000193693 (11:118241412 C>T), RS1000347859 (11:118233976 G>A,C), RS1000506098 (11:118243129 C>A,G), RS1000524339 (11:118239615 T>C), RS1000722911 (11:118249409 TAA>T,TA,TAAA), RS1000732629 (11:118232798 T>A), RS1000902452 (11:118228849 C>T), RS1000913693 (11:118228457 T>C), RS1000916631 (11:118252375 G>A,T), RS1000975158 (11:118252885 C>G), RS1001036813 (11:118245429 G>A), RS1001083060 (11:118232426 T>A), RS1001093126 (11:118249705 A>G), RS1001162400 (11:118235488 C>A)

Disease associations

OMIM: gene MIM:611707 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST007560_2	Sleep duration (long sleep)	5.000000e-12
GCST008834_22	Non-small cell lung cancer	2.000000e-13
GCST90002394_350	Monocyte percentage of white cells	4.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007989	monocyte percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cisplatin	affects cotreatment, decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	affects cotreatment, increases expression	2
triphenyl phosphate	affects expression	1
diethyl phthalate	decreases expression, increases abundance	1
ethyl-p-hydroxybenzoate	increases expression	1
terbufos	decreases methylation	1
beta-lapachone	increases expression	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
hydroquinone	increases expression	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	increases expression, affects cotreatment	1
jinfukang	affects cotreatment, decreases expression	1
gardiquimod	decreases expression, decreases reaction	1
(+)-JQ1 compound	decreases expression	1
monoethyl phthalate	decreases expression, increases abundance	1
Leflunomide	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	increases expression	1
Diethylhexyl Phthalate	increases expression	1
Fonofos	decreases methylation	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Parathion	decreases methylation	1
Rotenone	decreases expression	1
Silicon Dioxide	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1

Clinical trials (associated diseases)

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