RMDN2

Summary

RMDN2 (regulator of microtubule dynamics 2, HGNC:26567) is a protein-coding gene on chromosome 2p22.2, encoding Regulator of microtubule dynamics protein 2 (Q96LZ7).

Enables microtubule binding activity. Located in Golgi apparatus; cytosol; and spindle.

Source: NCBI Gene 151393 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 149 total
• MANE Select transcript: NM_001170791

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26567
Approved symbol	RMDN2
Name	regulator of microtubule dynamics 2
Location	2p22.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32954, RMD2
Ensembl gene	ENSG00000115841
Ensembl biotype	protein_coding
OMIM	611872
Entrez	151393

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 24 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000234195, ENST00000354545, ENST00000402091, ENST00000406384, ENST00000407257, ENST00000414644, ENST00000417700, ENST00000425641, ENST00000440353, ENST00000442857, ENST00000469469, ENST00000496735, ENST00000894801, ENST00000894802, ENST00000894803, ENST00000894804, ENST00000894805, ENST00000894806, ENST00000894807, ENST00000894808, ENST00000894809, ENST00000894810, ENST00000894811, ENST00000894812, ENST00000894813, ENST00000949453, ENST00000949454

RefSeq mRNA: 6 — MANE Select: NM_001170791 NM_001170791, NM_001170792, NM_001170793, NM_001322211, NM_001322212, NM_144713

CCDS: CCDS1792, CCDS54351, CCDS54352

Canonical transcript exons

ENST00000354545 — 11 exons

Exon	Start	End
ENSE00001360521	37997416	37997514
ENSE00001416891	37925287	37925425
ENSE00001578220	37929262	37929729
ENSE00003497740	38004136	38004216
ENSE00003520197	37975212	37975314
ENSE00003521915	37989541	37989616
ENSE00003544806	38003991	38004044
ENSE00003608689	37991220	37991297
ENSE00003639332	37974040	37974214
ENSE00003691191	37981283	37981343
ENSE00003903348	38017186	38017744

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 96.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9787 / max 43.0608, expressed in 1419 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19809	3.0890	1311
19810	0.8632	496
19811	0.0166	3
19813	0.0074	3
19812	0.0026	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	96.13	gold quality
right adrenal gland cortex	UBERON:0035827	94.71	gold quality
sperm	CL:0000019	94.38	gold quality
left adrenal gland cortex	UBERON:0035825	94.36	gold quality
right adrenal gland	UBERON:0001233	94.21	gold quality
left adrenal gland	UBERON:0001234	93.97	gold quality
adrenal cortex	UBERON:0001235	93.75	gold quality
adrenal gland	UBERON:0002369	93.42	gold quality
right testis	UBERON:0004534	88.55	gold quality
left testis	UBERON:0004533	88.39	gold quality
testis	UBERON:0000473	86.87	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.66	gold quality
spleen	UBERON:0002106	86.64	gold quality
mucosa of transverse colon	UBERON:0004991	86.23	gold quality
right lobe of liver	UBERON:0001114	86.02	gold quality
jejunal mucosa	UBERON:0000399	85.85	gold quality
liver	UBERON:0002107	85.14	gold quality
epithelial cell of pancreas	CL:0000083	85.02	silver quality
ileal mucosa	UBERON:0000331	84.89	gold quality
rectum	UBERON:0001052	84.30	gold quality
calcaneal tendon	UBERON:0003701	84.14	gold quality
colonic mucosa	UBERON:0000317	83.76	gold quality
monocyte	CL:0000576	83.18	gold quality
tibia	UBERON:0000979	83.13	gold quality
leukocyte	CL:0000738	82.66	gold quality
mucosa of sigmoid colon	UBERON:0004993	82.56	gold quality
transverse colon	UBERON:0001157	82.06	gold quality
colonic epithelium	UBERON:0000397	82.04	gold quality
lower lobe of lung	UBERON:0008949	81.28	gold quality
right lung	UBERON:0002167	81.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.35

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

7 targeting RMDN2, 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-4307	99.82	70.45	3374
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-6833-5P	99.50	68.93	1161
HSA-MIR-192-3P	97.52	67.66	1001
HSA-MIR-4491	96.53	66.20	935
HSA-MIR-4657	96.53	66.57	895
HSA-MIR-3918	96.13	64.65	1300

Literature-anchored findings (GeneRIF, showing 1)

• CYP1B1-RMDN2 Alzheimer’s disease endophenotype locus identified for cerebral tau PET. (PMID:39304655)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	rmdn2	ENSDARG00000078761
mus_musculus	Rmdn2	ENSMUSG00000036368
rattus_norvegicus	Rmdn2	ENSRNOG00000006082
caenorhabditis_elegans		WBGENE00007190
caenorhabditis_elegans		WBGENE00007786
caenorhabditis_elegans		WBGENE00011501
caenorhabditis_elegans		WBGENE00012976
caenorhabditis_elegans		WBGENE00015855
caenorhabditis_elegans		WBGENE00020070

Paralogs (3): TEX10 (ENSG00000136891), RMDN3 (ENSG00000137824), RMDN1 (ENSG00000176623)

Protein

Protein identifiers

Regulator of microtubule dynamics protein 2 — Q96LZ7 (reviewed: Q96LZ7)

Alternative names: Protein FAM82A1

All UniProt accessions (8): A0A0A0MSD2, A0A0C4DFM4, B5MC85, C9JGB2, C9JUD5, Q96LZ7, F8WFC3, H7C2J3

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with microtubules.

Subcellular location. Membrane. Cytoplasm. Cytoskeleton. Spindle. Spindle pole.

Similarity. Belongs to the RMDN family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q96LZ7-1	1	yes
Q96LZ7-2	2
Q96LZ7-3	3
Q96LZ7-4	4

RefSeq proteins (6): NP_001164262, NP_001164263, NP_001164264, NP_001309140, NP_001309141, NP_653314 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR049039

Pfam: PF21033

UniProt features (17 total): modified residue 6, splice variant 4, chain 1, transmembrane region 1, sequence variant 1, sequence conflict 1, region of interest 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LZ7-F1	74.19	0.45

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): 157, 51, 121, 139, 152, 154

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 83 (showing top): AP1_01, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, PITX2_Q2, GOCC_SPINDLE, GOCC_MITOTIC_SPINDLE, GOMF_CYTOSKELETAL_PROTEIN_BINDING, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, ER_Q6_01, chr2p22, TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_DN, WAKABAYASHI_ADIPOGENESIS_PPARG_BOUND_8D, GOCC_MITOTIC_SPINDLE_POLE, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, GOCC_SUPRAMOLECULAR_POLYMER

GO Biological Process (0):

GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)

GO Cellular Component (12): cytoplasm (GO:0005737), mitochondrion (GO:0005739), Golgi apparatus (GO:0005794), cytosol (GO:0005829), spindle microtubule (GO:0005876), membrane (GO:0016020), mitotic spindle (GO:0072686), mitotic spindle pole (GO:0097431), spindle pole (GO:0000922), spindle (GO:0005819), cytoskeleton (GO:0005856), microtubule (GO:0005874)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	3
spindle	3
intracellular membrane-bounded organelle	2
microtubule cytoskeleton	2
intracellular membraneless organelle	2
tubulin binding	1
binding	1
intracellular anatomical structure	1
endomembrane system	1
microtubule	1
spindle pole	1
mitotic spindle	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

1130 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RMDN2	CCDC149	Q6ZUS6	599
RMDN2	SLC66A3	Q8N755	557
RMDN2	PTPN2	P17706	547
RMDN2	MYO10	Q9HD67	518
RMDN2	SRGAP2	O75044	485
RMDN2	SRGAP3	O43295	484
RMDN2	PPP2R5C	Q13362	454
RMDN2	STARD3NL	O95772	453
RMDN2	DLGAP1	P78335	453
RMDN2	FCGR2A	P12318	433
RMDN2	CTBP1	Q13363	431
RMDN2	ZNF572	Q7Z3I7	430
RMDN2	PTPN1	P18031	429
RMDN2	FCGR2B	P31994	426
RMDN2	PARP1	P09874	424

IntAct

80 interactions, top by confidence:

A	B	Type	Score
VAPB	RMDN2	psi-mi:“MI:0915”(physical association)	0.840
RMDN2	VAPA	psi-mi:“MI:0915”(physical association)	0.800
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
VAPA	FAM83G	psi-mi:“MI:0914”(association)	0.640
VAPA	PITPNM1	psi-mi:“MI:0914”(association)	0.640
RMDN2	RMDN3	psi-mi:“MI:0915”(physical association)	0.590
VAPB	RMDN2	psi-mi:“MI:0915”(physical association)	0.560
RMDN2	AGTRAP	psi-mi:“MI:0915”(physical association)	0.560
CMTM5	RMDN2	psi-mi:“MI:0915”(physical association)	0.560
RMDN2	VAPB	psi-mi:“MI:0915”(physical association)	0.560
AGTRAP	RMDN2	psi-mi:“MI:0915”(physical association)	0.560
RMDN2	CMTM5	psi-mi:“MI:0915”(physical association)	0.560
STX1A	RMDN2	psi-mi:“MI:0915”(physical association)	0.560
RTN3	RMDN2	psi-mi:“MI:0915”(physical association)	0.560
RMDN2	SAR1A	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (59): RMDN2 (Two-hybrid), RMDN2 (Two-hybrid), RMDN2 (Two-hybrid), RMDN3 (Affinity Capture-MS), VAPB (Affinity Capture-MS), RMDN2 (Affinity Capture-MS), RMDN2 (Affinity Capture-MS), RMDN2 (Affinity Capture-MS), RMDN2 (Affinity Capture-MS), RMDN2 (Affinity Capture-MS), RMDN2 (Affinity Capture-MS), RMDN3 (Affinity Capture-MS), RMDN2 (Two-hybrid), RMDN2 (Proximity Label-MS), RMDN2 (Two-hybrid)

ESM2 similar proteins: A0JN62, A2RT67, A4IFB6, E1C3P4, F1QEB7, F1R7R1, O35099, O43264, O54921, O94967, P48553, P51593, Q08CL8, Q08CZ0, Q0VEJ0, Q28G25, Q3TLI0, Q4R350, Q5F3K0, Q5R9R1, Q5RFM4, Q5XH48, Q5XIA4, Q5ZIW2, Q641K1, Q6DE97, Q6NU53, Q6VNB8, Q7TMY8, Q7TSG1, Q7Z6Z7, Q8BH15, Q8CGF6, Q8IWR0, Q8IY22, Q8IZQ1, Q8K1X1, Q8N960, Q8QFR2, Q95LL7

Diamond homologs: P34560, Q0P4W3, Q1JQC5, Q2TBQ7, Q32KL4, Q3UJU9, Q498D5, Q4G069, Q5EAU9, Q5R6Z1, Q5R8E4, Q66H15, Q8BSE0, Q95LL7, Q96DB5, Q96LZ7, Q96TC7, Q9DCV4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	119
Likely benign	13
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2391 predictions. Top by Δscore:

Variant	Effect	Δscore
2:37929728:GG:G	donor_gain	1.0000
2:37929729:GG:G	donor_gain	1.0000
2:37974213:AGG:A	donor_loss	1.0000
2:37974214:GGTA:G	donor_loss	1.0000
2:37974215:G:C	donor_loss	1.0000
2:37974216:T:G	donor_loss	1.0000
2:37975207:TTCA:T	acceptor_loss	1.0000
2:37975210:A:AG	acceptor_gain	1.0000
2:37975210:AGTT:A	acceptor_loss	1.0000
2:37975211:G:GT	acceptor_gain	1.0000
2:37975211:GTTT:G	acceptor_gain	1.0000
2:37975211:GTTTA:G	acceptor_gain	1.0000
2:37997410:TTGCA:T	acceptor_loss	1.0000
2:37997411:TGCAG:T	acceptor_loss	1.0000
2:37997412:GCAG:G	acceptor_loss	1.0000
2:37997413:CA:C	acceptor_loss	1.0000
2:37997414:AGG:A	acceptor_loss	1.0000
2:37997415:G:T	acceptor_loss	1.0000
2:38004134:A:AG	acceptor_gain	1.0000
2:38004135:G:GG	acceptor_gain	1.0000
2:38004135:GT:G	acceptor_gain	1.0000
2:37925426:G:GG	donor_gain	0.9900
2:37929256:TTTTA:T	acceptor_loss	0.9900
2:37929257:TTTA:T	acceptor_loss	0.9900
2:37929258:TTA:T	acceptor_loss	0.9900
2:37929259:TAG:T	acceptor_loss	0.9900
2:37929260:A:AG	acceptor_gain	0.9900
2:37929261:G:GG	acceptor_gain	0.9900
2:37929261:GA:G	acceptor_gain	0.9900
2:37929261:GAA:G	acceptor_gain	0.9900

AlphaMissense

2719 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:37989546:C:A	A266E	0.996
2:37991235:G:C	A295P	0.995
2:37989545:G:C	A266P	0.994
2:37991280:G:T	G310W	0.994
2:37991227:T:C	L292P	0.993
2:37991280:G:A	G310R	0.993
2:37991280:G:C	G310R	0.993
2:37975240:G:C	R219P	0.992
2:37975314:G:A	G244R	0.992
2:37975314:G:C	G244R	0.992
2:37981283:G:A	G244E	0.992
2:37975249:G:C	R222P	0.991
2:37991236:C:A	A295E	0.990
2:37975236:T:A	W218R	0.989
2:37975236:T:C	W218R	0.989
2:37975306:C:A	A241D	0.989
2:37997450:C:A	A327D	0.989
2:38004138:T:G	C367W	0.989
2:38004136:T:C	C367R	0.988
2:37991281:G:A	G310E	0.987
2:37997494:G:C	A342P	0.987
2:37929719:A:C	S148R	0.986
2:37929721:T:A	S148R	0.986
2:37929721:T:G	S148R	0.986
2:37975251:G:C	A223P	0.986
2:37981342:T:A	W264R	0.985
2:37981342:T:C	W264R	0.985
2:37991275:T:C	L308P	0.984
2:37975305:G:C	A241P	0.983
2:37981336:C:G	H262D	0.983

dbSNP variants (sampled 300 via entrez): RS1000007916 (2:37942805 C>G), RS1000068823 (2:37973604 G>GA), RS1000079243 (2:38005257 G>C,T), RS1000098271 (2:38058308 C>G,T), RS1000100272 (2:37986390 A>G), RS1000104937 (2:37924313 C>T), RS1000126667 (2:37968460 A>T), RS1000135758 (2:37925059 G>A), RS1000152540 (2:37986600 C>A,T), RS1000157858 (2:37955961 A>G,T), RS1000167569 (2:38021404 C>T), RS1000170983 (2:38030305 A>G), RS1000190766 (2:37954842 GTCTT>G), RS1000223659 (2:37956925 G>A,C), RS1000228398 (2:37964799 C>T)

Disease associations

OMIM: gene MIM:611872 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000824_12	Erectile dysfunction and prostate cancer treatment	4.000000e-06
GCST003061_1	Cutaneous malignant melanoma	7.000000e-09
GCST003542_12	Night sleep phenotypes	1.000000e-06
GCST004142_24	Melanoma	7.000000e-09
GCST007843_3	Rheumatoid arthritis	1.000000e-09
GCST012244_1	Childhood asthma exacerbations in long-acting beta2-agonist treatment	4.000000e-06
GCST90002381_25	Eosinophil count	1.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007614	asthma exacerbation measurement
EFO:0004842	eosinophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects expression, affects cotreatment, affects methylation, increases methylation	3
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
jinfukang	decreases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, affects methylation	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, increases expression	1
Lead	increases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Aflatoxin M1	decreases expression	1
Sodium Selenite	decreases 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.