OPALIN

Summary

OPALIN (oligodendrocytic myelin paranodal and inner loop protein, HGNC:20707) is a protein-coding gene on chromosome 10q24.1, encoding Opalin (Q96PE5). Central nervous system-specific myelin protein that increase myelin genes expression during oligodendrocyte differentiation.

Predicted to be involved in regulation of oligodendrocyte differentiation. Located in Golgi apparatus.

Source: NCBI Gene 93377 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 35 total
• MANE Select transcript: NM_033207

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20707
Approved symbol	OPALIN
Name	oligodendrocytic myelin paranodal and inner loop protein
Location	10q24.1
Locus type	gene with protein product
Status	Approved
Aliases	TMP10, HTMP10
Ensembl gene	ENSG00000197430
Ensembl biotype	protein_coding
OMIM	617200
Entrez	93377

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000371172, ENST00000393870, ENST00000393871, ENST00000419479, ENST00000536387, ENST00000611913, ENST00000897676, ENST00000897677, ENST00000963709

RefSeq mRNA: 10 — MANE Select: NM_033207 NM_001040102, NM_001040103, NM_001284320, NM_001284321, NM_001284322, NM_001284323, NM_001284324, NM_001284326, NM_001284327, NM_033207

CCDS: CCDS41556, CCDS44466, CCDS60602, CCDS73172, CCDS73173, CCDS7448

Canonical transcript exons

ENST00000371172 — 6 exons

Exon	Start	End
ENSE00000987314	96348289	96348345
ENSE00001454537	96343221	96346117
ENSE00001932034	96358894	96359002
ENSE00003655237	96355255	96355290
ENSE00003729087	96349707	96349826
ENSE00003735898	96351378	96351410

Expression profiles

Bgee: expression breadth broad, 78 present calls, max score 97.00.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 7.0912 / max 904.2777, expressed in 90 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110861	3.7015	87
110859	1.2474	78
110862	0.8068	78
110860	0.6612	74
110858	0.5738	71
110864	0.0354	25
110863	0.0341	23
110856	0.0311	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral globus pallidus	UBERON:0002476	97.00	gold quality
corpus callosum	UBERON:0002336	96.92	gold quality
putamen	UBERON:0001874	96.89	gold quality
amygdala	UBERON:0001876	95.61	gold quality
caudate nucleus	UBERON:0001873	94.81	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.29	gold quality
Ammon’s horn	UBERON:0001954	93.51	gold quality
substantia nigra	UBERON:0002038	93.45	gold quality
globus pallidus	UBERON:0001875	93.14	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.67	gold quality
spinal cord	UBERON:0002240	92.60	gold quality
medial globus pallidus	UBERON:0002477	92.53	gold quality
midbrain	UBERON:0001891	92.45	gold quality
nucleus accumbens	UBERON:0001882	92.28	gold quality
hypothalamus	UBERON:0001898	91.40	gold quality
substantia nigra pars reticulata	UBERON:0001966	90.57	gold quality
right frontal lobe	UBERON:0002810	90.43	gold quality
prefrontal cortex	UBERON:0000451	90.28	gold quality
temporal lobe	UBERON:0001871	89.93	gold quality
Brodmann (1909) area 46	UBERON:0006483	89.78	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	88.83	gold quality
frontal cortex	UBERON:0001870	88.80	gold quality
substantia nigra pars compacta	UBERON:0001965	88.49	gold quality
postcentral gyrus	UBERON:0002581	87.64	gold quality
anterior cingulate cortex	UBERON:0009835	87.57	gold quality
cerebral cortex	UBERON:0000956	87.11	gold quality
parietal lobe	UBERON:0001872	86.81	gold quality
dorsal plus ventral thalamus	UBERON:0001897	86.68	gold quality
subthalamic nucleus	UBERON:0001906	86.50	gold quality
neocortex	UBERON:0001950	86.43	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-84465	yes	12.31
E-ANND-3	yes	4.93

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB1, MYT1, SMO

miRNA regulators (miRDB)

78 targeting OPALIN, 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-3646	100.00	73.56	5283
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-6887-3P	99.66	67.83	1778

Literature-anchored findings (GeneRIF, showing 2)

• highly sialylglycosylated Opalin has a role in an intermembranous function of the myelin paranodal loops in the central nervous system (PMID:18490449)
• TMEM10 Promotes Oligodendrocyte Differentiation and is Expressed by Oligodendrocytes in Human Remyelinating Multiple Sclerosis Plaques. (PMID:30837646)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Opalin	ENSMUSG00000050121
rattus_norvegicus	Opalin	ENSRNOG00000022386

Protein

Protein identifiers

Opalin — Q96PE5 (reviewed: Q96PE5)

Alternative names: Oligodendrocytic myelin paranodal and inner loop protein, Transmembrane protein 10

All UniProt accessions (3): Q96PE5, A0A0A0MS47, A0A0A0MTN4

UniProt curated annotations — full annotation on UniProt →

Function. Central nervous system-specific myelin protein that increase myelin genes expression during oligodendrocyte differentiation. Promotes oligodendrocyte terminal differentiation.

Subcellular location. Cell membrane.

Tissue specificity. Brain specific; expressed in oligodendrocytes. Expressed in oligodendrocytes in remyelinating multiple sclerosis plaques.

Isoforms (4)

UniProt ID	Names	Canonical?
Q96PE5-1	1	yes
Q96PE5-2	2
Q96PE5-3	3
Q96PE5-4	4

RefSeq proteins (10): NP_001035191, NP_001035192, NP_001271249, NP_001271250, NP_001271251, NP_001271252, NP_001271253, NP_001271255, NP_001271256, NP_149984* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026609	Opalin	Family

UniProt features (13 total): splice variant 3, glycosylation site 3, topological domain 2, region of interest 2, chain 1, transmembrane region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PE5-F1	62.88	0.09

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): 6, 12, 14

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 49 (showing top): GOBP_NEUROGENESIS, GOBP_REGULATION_OF_OLIGODENDROCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION, DBP_Q6, GOBP_GLIAL_CELL_DIFFERENTIATION, GOCC_CELL_CELL_JUNCTION, GOBP_OLIGODENDROCYTE_DIFFERENTIATION, GOCC_CELL_CELL_CONTACT_ZONE, LEIN_OLIGODENDROCYTE_MARKERS, LEIN_MIDBRAIN_MARKERS, GOCC_ANCHORING_JUNCTION, PEDRIOLI_MIR31_TARGETS_UP, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, ZNF768_TARGET_GENES, MIR3646

GO Biological Process (1): regulation of oligodendrocyte differentiation (GO:0048713)

GO Molecular Function (0):

GO Cellular Component (4): Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), cell-cell contact zone (GO:0044291), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of glial cell differentiation	1
oligodendrocyte differentiation	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
cell-cell junction	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1526 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OPALIN	TMEM70	Q9BUB7	952
OPALIN	ERMN	Q8TAM6	690
OPALIN	PLLP	Q9Y342	674
OPALIN	MOBP	Q13875	634
OPALIN	PLP1	P04400	598
OPALIN	ENPP6	Q6UWR7	520
OPALIN	KLK6	Q92876	507
OPALIN	SEPTIN4	O43236	476
OPALIN	MBP	P02686	446
OPALIN	OLIG2	Q13516	425
OPALIN	GPR17	Q13304	423
OPALIN	OLIG1	Q8TAK6	423
OPALIN	MAG	P20916	422
OPALIN	EGR2	P11161	421
OPALIN	GADL1	Q6ZQY3	421

IntAct

9 interactions, top by confidence:

A	B	Type	Score
OPALIN	BTAF1	psi-mi:“MI:0914”(association)	0.530
TRPV2	OPALIN	psi-mi:“MI:0915”(physical association)	0.370
OPALIN	GPR89A	psi-mi:“MI:0914”(association)	0.350
OPALIN	FAM171A2	psi-mi:“MI:0914”(association)	0.350
GMFB	RIPK2	psi-mi:“MI:0914”(association)	0.350
HBB	HNRNPH2	psi-mi:“MI:0914”(association)	0.350
IL1RN	PSMG1	psi-mi:“MI:0914”(association)	0.350
EPHA4	OPALIN	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (210): OPALIN (Synthetic Lethality), TUBGCP4 (Affinity Capture-MS), MDN1 (Affinity Capture-MS), GHITM (Affinity Capture-MS), IPO8 (Affinity Capture-MS), LGALS3 (Affinity Capture-MS), RNF213 (Affinity Capture-MS), MON2 (Affinity Capture-MS), PDS5B (Affinity Capture-MS), TMEM55B (Affinity Capture-MS), ATP2A1 (Affinity Capture-MS), BTAF1 (Affinity Capture-MS), CD97 (Affinity Capture-MS), RTTN (Affinity Capture-MS), TUBB8 (Affinity Capture-MS)

ESM2 similar proteins: A0A0B4K753, A0A3G1DJJ7, A8P353, B0DX25, B2RWJ3, F5HAM4, F5HCK7, F5HGQ8, O39830, O59776, P06481, P06498, P06849, P09266, P09707, P0C5T6, P0C9Y9, P10407, P10471, P11313, P11625, P17523, P17524, P28979, P32845, P34890, P40688, P69338, P69339, P79943, Q0A2G4, Q32LJ5, Q4JQX4, Q5SV17, Q5T7R7, Q66125, Q66262, Q6DPQ1, Q6DPT7, Q6DPU1

Diamond homologs: Q29102, Q5E9I3, Q5R461, Q7M750, Q96PE5

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SMO	“up-regulates quantity”	OPALIN	“transcriptional regulation”
OPALIN	up-regulates	Myelination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

665 predictions. Top by Δscore:

Variant	Effect	Δscore
10:96345990:T:A	donor_gain	0.9900
10:96346119:T:C	acceptor_gain	0.9900
10:96348283:TCTTA:T	donor_loss	0.9900
10:96348284:CTTA:C	donor_loss	0.9900
10:96348285:TTA:T	donor_loss	0.9900
10:96348286:TAC:T	donor_loss	0.9900
10:96348287:A:AC	donor_gain	0.9900
10:96348288:C:CC	donor_gain	0.9900
10:96348288:CCT:C	donor_gain	0.9900
10:96348341:CTTTC:C	acceptor_gain	0.9900
10:96348344:TCCTA:T	acceptor_loss	0.9900
10:96348345:CCTAA:C	acceptor_loss	0.9900
10:96348347:T:C	acceptor_loss	0.9900
10:96348351:T:TC	acceptor_gain	0.9900
10:96348360:A:AC	acceptor_gain	0.9900
10:96348360:A:C	acceptor_gain	0.9900
10:96349708:T:TA	donor_gain	0.9900
10:96348342:TTTC:T	acceptor_gain	0.9800
10:96348343:TTC:T	acceptor_gain	0.9800
10:96348346:C:CC	acceptor_gain	0.9800
10:96348351:T:C	acceptor_gain	0.9800
10:96348362:A:C	acceptor_gain	0.9800
10:96349702:ATCAC:A	donor_loss	0.9700
10:96349703:TCA:T	donor_loss	0.9700
10:96349704:CA:C	donor_loss	0.9700
10:96349705:AC:A	donor_loss	0.9700
10:96349822:CAGTC:C	acceptor_gain	0.9700
10:96348344:TC:T	acceptor_gain	0.9600
10:96348345:CC:C	acceptor_gain	0.9600
10:96349833:C:CT	acceptor_gain	0.9600

AlphaMissense

907 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:96345970:A:G	W133R	0.944
10:96345970:A:T	W133R	0.944
10:96345968:C:A	W133C	0.930
10:96345968:C:G	W133C	0.930
10:96345950:G:C	S139R	0.911
10:96345950:G:T	S139R	0.911
10:96345952:T:G	S139R	0.911
10:96349792:A:T	I36K	0.902
10:96349789:G:C	P37R	0.893
10:96349792:A:C	I36R	0.882
10:96349777:G:T	A41D	0.880
10:96349771:G:T	A43D	0.873
10:96345960:G:T	P136H	0.869
10:96345966:A:G	L134P	0.867
10:96345971:C:A	W132C	0.860
10:96345971:C:G	W132C	0.860
10:96349789:G:T	P37Q	0.860
10:96345966:A:T	L134H	0.857
10:96355285:A:C	F3L	0.853
10:96355285:A:T	F3L	0.853
10:96355287:A:G	F3L	0.853
10:96345961:G:T	P136T	0.848
10:96345960:G:A	P136L	0.845
10:96345975:A:G	L131S	0.836
10:96346059:A:T	I103K	0.830
10:96345945:T:A	E141V	0.817
10:96349768:A:C	L44R	0.816
10:96349796:C:G	G35R	0.813
10:96349798:G:T	A34E	0.810
10:96355273:G:C	F7L	0.806

dbSNP variants (sampled 300 via entrez): RS1000121271 (10:96353164 C>A), RS1000175447 (10:96353546 G>A), RS1000300067 (10:96359472 C>A), RS1000401931 (10:96359791 G>A), RS1000447957 (10:96347584 C>T), RS1000551738 (10:96352444 C>G), RS1000690306 (10:96360013 T>G), RS1000996441 (10:96348731 G>C), RS1001019048 (10:96346773 A>C,G), RS1001047336 (10:96349131 A>G), RS1001194293 (10:96358685 G>C), RS1001214875 (10:96347545 C>T), RS1001791745 (10:96351873 A>G), RS1001844806 (10:96357866 A>G), RS1002070164 (10:96345562 C>T)

Disease associations

OMIM: gene MIM:617200 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009297_2	BMI at 3 years old	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	increases expression	1
bisphenol A	decreases methylation	1
butyraldehyde	increases expression	1
Arsenic Trioxide	increases expression	1
Benzo(a)pyrene	increases methylation	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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