ERMN

Summary

ERMN (ermin, HGNC:29208) is a protein-coding gene on chromosome 2q24.1, encoding Ermin (Q8TAM6). Plays a role in cytoskeletal rearrangements during the late wrapping and/or compaction phases of myelinogenesis as well as in maintenance and stability of myelin sheath in the adult.

Predicted to enable actin filament binding activity. Involved in actin filament organization; regulation of cell projection organization; and regulation of cell shape. Located in cell cortex; internode region of axon; and paranode region of axon.

Source: NCBI Gene 57471 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 57 total
• MANE Select transcript: NM_020711

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29208
Approved symbol	ERMN
Name	ermin
Location	2q24.1
Locus type	gene with protein product
Status	Approved
Aliases	JN, ERMIN
Ensembl gene	ENSG00000136541
Ensembl biotype	protein_coding
OMIM	610072
Entrez	57471

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 11 protein_coding, 1 nonsense_mediated_decay

ENST00000397283, ENST00000409216, ENST00000409395, ENST00000409925, ENST00000410096, ENST00000411762, ENST00000419116, ENST00000420317, ENST00000420719, ENST00000875546, ENST00000875547, ENST00000875548

RefSeq mRNA: 5 — MANE Select: NM_020711 NM_001009959, NM_001304344, NM_001304345, NM_001304346, NM_020711

CCDS: CCDS42764, CCDS46431, CCDS77475

Canonical transcript exons

ENST00000410096 — 3 exons

Exon	Start	End
ENSE00001578609	157318631	157321791
ENSE00001585490	157325402	157325824
ENSE00003511419	157324670	157324762

Expression profiles

Bgee: expression breadth ubiquitous, 176 present calls, max score 99.82.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 16.7185 / max 3962.0132, expressed in 150 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
31377	11.9716	111
31376	2.3307	94
31378	0.7476	82
31379	0.4767	71
31381	0.3670	69
202448	0.2799	68
31375	0.2368	50
202447	0.1034	33
202449	0.1023	43
31380	0.0703	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	99.82	gold quality
inferior vagus X ganglion	UBERON:0005363	99.72	gold quality
lateral globus pallidus	UBERON:0002476	99.63	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.59	gold quality
globus pallidus	UBERON:0001875	99.58	gold quality
subthalamic nucleus	UBERON:0001906	99.56	gold quality
medial globus pallidus	UBERON:0002477	99.56	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.50	gold quality
spinal cord	UBERON:0002240	99.47	gold quality
pons	UBERON:0000988	99.46	gold quality
medulla oblongata	UBERON:0001896	99.38	gold quality
superior vestibular nucleus	UBERON:0007227	99.26	gold quality
substantia nigra pars compacta	UBERON:0001965	99.23	gold quality
dorsal plus ventral thalamus	UBERON:0001897	99.19	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.13	gold quality
pigmented layer of retina	UBERON:0001782	98.90	gold quality
midbrain	UBERON:0001891	98.82	gold quality
substantia nigra	UBERON:0002038	98.82	gold quality
ventral tegmental area	UBERON:0002691	98.27	gold quality
putamen	UBERON:0001874	97.62	gold quality
Ammon’s horn	UBERON:0001954	97.60	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.51	gold quality
amygdala	UBERON:0001876	97.50	gold quality
postcentral gyrus	UBERON:0002581	97.26	gold quality
parietal lobe	UBERON:0001872	97.07	gold quality
endothelial cell	CL:0000115	96.33	gold quality
caudate nucleus	UBERON:0001873	95.97	gold quality
hypothalamus	UBERON:0001898	95.82	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.31	gold quality
temporal lobe	UBERON:0001871	95.28	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	14.44
E-GEOD-84465	yes	14.32
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NKX2-2

miRNA regulators (miRDB)

140 targeting ERMN, 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-1277-5P	100.00	73.95	5056
HSA-MIR-656-3P	100.00	72.15	2788
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-4533	100.00	69.48	2758
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-3910	99.95	71.13	2227

Literature-anchored findings (GeneRIF, showing 5)

• This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia. (PMID:19034380)
• Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
• this study suggested a role for hErmin as a novel cytoskeleton-related oligodendroglial protein in human brain myelination and human epileptogenesis, and provide new evidence for the relationship between oligodendrocytes and epilepsy. (PMID:20934411)
• The results showed a significant decrease in ERMN expression in patients with relapsing-remitting multiple sclerosis compared with controls. The reduction in ERMN expression in leukocytes could be the cause of demyelinating process in RR-MS patients. (PMID:31123898)
• Expression Analysis of Ermin and Listerin E3 Ubiquitin Protein Ligase 1 Genes in the Periphery of Patients with Schizophrenia. (PMID:34676516)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	msnb	ENSDARG00000028740
danio_rerio	msna	ENSDARG00000058128
mus_musculus	Ermn	ENSMUSG00000026830
rattus_norvegicus	Ermn	ENSRNOG00000021472
drosophila_melanogaster	Moe	FBGN0011661

Paralogs (6): EZR (ENSG00000092820), FRMD4B (ENSG00000114541), RDX (ENSG00000137710), MSN (ENSG00000147065), FRMD4A (ENSG00000151474), NF2 (ENSG00000186575)

Protein

Protein identifiers

Ermin — Q8TAM6 (reviewed: Q8TAM6)

Alternative names: Juxtanodin

All UniProt accessions (7): B4DIZ1, B8ZZ94, C9J6B4, C9J8X3, C9JN04, Q8TAM6, F8WAQ2

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in cytoskeletal rearrangements during the late wrapping and/or compaction phases of myelinogenesis as well as in maintenance and stability of myelin sheath in the adult. May play an important role in late-stage oligodendroglia maturation, myelin/Ranvier node formation during CNS development, and in the maintenance and plasticity of related structures in the mature CNS.

Subunit / interactions. Binds actin.

Subcellular location. Cytoplasm. Cytoskeleton.

Tissue specificity. Highly expressed in adult and fetal brain. Expressed at intermediate levels in the lung and liver.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TAM6-1	1	yes
Q8TAM6-2	2

RefSeq proteins (5): NP_001009959, NP_001291273, NP_001291274, NP_001291275, NP_065762* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008954	Moesin_tail_sf	Homologous_superfamily
IPR045346	Ermin	Family

Pfam: PF20491

UniProt features (16 total): modified residue 6, compositionally biased region 5, region of interest 3, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TAM6-F1	57.95	0.01

Functional residue map

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

Post-translational modifications (6): 214, 226, 230, 233, 237, 73

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 98 (showing top): GOBP_REGULATION_OF_CELL_MORPHOGENESIS, MODULE_255, MODULE_317, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_ACTIN_FILAMENT_ORGANIZATION, chr2q24, GOBP_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE, GOMF_ACTIN_BINDING, GOCC_NEURON_PROJECTION, GOBP_CELL_PROJECTION_ORGANIZATION, MODULE_48, MODULE_95, GOBP_REGULATION_OF_CELL_SHAPE, GOCC_FILOPODIUM, LEIN_OLIGODENDROCYTE_MARKERS

GO Biological Process (4): morphogenesis of a branching structure (GO:0001763), actin filament organization (GO:0007015), regulation of cell shape (GO:0008360), regulation of cell projection organization (GO:0031344)

GO Molecular Function (3): actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (10): cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell cortex (GO:0005938), filopodium (GO:0030175), internode region of axon (GO:0033269), paranode region of axon (GO:0033270), neuronal cell body (GO:0043025), myelin sheath (GO:0043209), extracellular exosome (GO:0070062), glial cell projection (GO:0097386)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
main axon	2
anatomical structure morphogenesis	1
multicellular organismal process	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
regulation of cell morphogenesis	1
regulation of biological quality	1
cell projection organization	1
regulation of cellular component organization	1
actin binding	1
protein-containing complex binding	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
cytoplasm	1
cell periphery	1
actin-based cell projection	1
somatodendritic compartment	1
cell body	1
extracellular vesicle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

2824 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERMN	RDX	P35241	699
ERMN	MSN	P26038	698
ERMN	OPALIN	Q96PE5	690
ERMN	CLDN11	O75508	654
ERMN	EZR	P15311	616
ERMN	MOBP	Q13875	579
ERMN	MBP	P02686	577
ERMN	HAPLN2	Q9GZV7	535
ERMN	FA2H	Q7L5A8	525
ERMN	MYRF	Q9Y2G1	512
ERMN	LTN1	O94822	498
ERMN	PLP1	P04400	498
ERMN	PPP1R14A	Q96A00	489
ERMN	ELOF1	P60002	477
ERMN	EFHD1	Q9BUP0	474

IntAct

6 interactions, top by confidence:

A	B	Type	Score
ERMN	RTN4IP1	psi-mi:“MI:0915”(physical association)	0.560
SULT4A1	SULT1A3	psi-mi:“MI:0914”(association)	0.350
ERMN	RTN4IP1	psi-mi:“MI:0915”(physical association)	0.000
CTNNB1	ERMN	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (8): ERMN (Affinity Capture-MS), ERMN (Two-hybrid), ERMN (Affinity Capture-MS), ERMN (Affinity Capture-MS), XKR6 (Cross-Linking-MS (XL-MS)), ERMN (Protein-peptide), ERMN (Biochemical Activity), APP (Reconstituted Complex)

ESM2 similar proteins: A0FKI7, A0JM80, A2A3V1, A4FU69, A6H8Y1, A7E3D8, A8T6P4, A9JRX0, B0CM36, D3Z6S9, F6QRE9, F6SNN2, O95447, P0C2Y1, P23497, P56716, Q0P5X1, Q0P6D6, Q13342, Q15361, Q3UMF0, Q3ZBR9, Q4R3Q7, Q571C7, Q5BLK4, Q5EBJ4, Q5H9K5, Q5R6D6, Q5RHP9, Q5RJL0, Q5VYS8, Q5XG69, Q5XG73, Q5ZI58, Q61687, Q62187, Q68A65, Q6A000, Q6ZVD7, Q76N89

Diamond homologs: Q3ZBR9, Q5EBJ4, Q5R6D6, Q5RJL0, Q8TAM6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NKX2-2	“up-regulates quantity by expression”	ERMN	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

343 predictions. Top by Δscore:

Variant	Effect	Δscore
2:157324760:TTT:T	acceptor_gain	1.0000
2:157324761:TTCTA:T	acceptor_loss	1.0000
2:157324762:TCTAG:T	acceptor_loss	1.0000
2:157324763:C:CC	acceptor_gain	1.0000
2:157324763:CTA:C	acceptor_loss	1.0000
2:157324764:T:G	acceptor_loss	1.0000
2:157321788:TGCC:T	acceptor_gain	0.9900
2:157321791:CCTG:C	acceptor_loss	0.9900
2:157321792:C:CC	acceptor_gain	0.9900
2:157321792:C:CG	acceptor_loss	0.9900
2:157324667:TACC:T	donor_loss	0.9900
2:157324668:A:C	donor_loss	0.9900
2:157324669:CC:C	donor_loss	0.9900
2:157324759:TTTT:T	acceptor_gain	0.9900
2:157324761:TT:T	acceptor_gain	0.9900
2:157321793:T:A	acceptor_loss	0.9800
2:157324669:CCTT:C	donor_gain	0.9800
2:157324758:GTTTT:G	acceptor_gain	0.9800
2:157325396:CTTTA:C	donor_loss	0.9800
2:157325397:TTTAC:T	donor_loss	0.9800
2:157325398:TTA:T	donor_loss	0.9800
2:157325399:TAC:T	donor_loss	0.9800
2:157325400:A:T	donor_loss	0.9800
2:157325401:C:A	donor_loss	0.9800
2:157321790:CC:C	acceptor_gain	0.9700
2:157321791:CC:C	acceptor_gain	0.9700
2:157321794:G:GC	acceptor_gain	0.9600
2:157324653:A:C	donor_gain	0.9600
2:157321789:GCC:G	acceptor_gain	0.9500
2:157321790:CCC:C	acceptor_gain	0.9500

AlphaMissense

1934 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:157321292:G:C	F278L	0.999
2:157321292:G:T	F278L	0.999
2:157321294:A:G	F278L	0.999
2:157321304:T:A	R274S	0.998
2:157321304:T:G	R274S	0.998
2:157321293:A:C	F278C	0.997
2:157321293:A:G	F278S	0.997
2:157321310:C:A	K272N	0.997
2:157321310:C:G	K272N	0.997
2:157321329:A:G	I266T	0.997
2:157321329:A:C	I266S	0.996
2:157321335:C:G	R264P	0.996
2:157321288:A:G	S280P	0.995
2:157321321:C:G	G269R	0.995
2:157321321:C:T	G269R	0.995
2:157321325:T:A	R267S	0.995
2:157321325:T:G	R267S	0.995
2:157321305:C:G	R274T	0.994
2:157321307:T:A	Q273H	0.994
2:157321307:T:G	Q273H	0.994
2:157321320:C:T	G269E	0.993
2:157321322:C:A	K268N	0.993
2:157321322:C:G	K268N	0.993
2:157321344:A:T	I261K	0.993
2:157321296:T:A	E277V	0.992
2:157321302:A:T	I275N	0.991
2:157321316:A:C	N270K	0.991
2:157321316:A:T	N270K	0.991
2:157321320:C:A	G269V	0.991
2:157321339:A:G	Y263H	0.991

dbSNP variants (sampled 300 via entrez): RS1000066472 (2:157322605 C>T), RS1000097069 (2:157322862 G>C), RS1000145719 (2:157321325 T>C), RS1000259641 (2:157329021 A>C), RS1000284710 (2:157322263 C>T), RS1000606265 (2:157327788 G>A,C), RS1001000520 (2:157327968 T>A,C), RS1001257458 (2:157324503 C>A,T), RS1001672283 (2:157329116 G>A), RS1001703340 (2:157329560 G>A), RS1001814657 (2:157319910 A>C), RS1001970129 (2:157323074 C>T), RS1002020453 (2:157328072 G>A), RS1002023352 (2:157326633 C>A,T), RS1002038662 (2:157319597 A>G,T)

Disease associations

OMIM: gene MIM:610072 | 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
GCST009391_266	Metabolite levels	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010427	triacylglycerol 54:9 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, increases methylation	4
Nickel	increases expression	2
GSK-J4	increases expression	1
methylmercuric chloride	decreases expression	1
arsenite	increases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
dorsomorphin	increases expression, affects cotreatment, decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Vorinostat	increases expression, affects cotreatment	1
Air Pollutants	affects expression, increases abundance	1
Air Pollutants, Occupational	increases expression	1
Amiodarone	increases expression	1
Benzene	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Ozone	increases abundance, affects expression	1
Tretinoin	increases expression	1
Antirheumatic Agents	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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