RMDN1

protein-coding

regulator of microtubule dynamics 1

Gene summary

Enables microtubule binding activity. Predicted to be involved in attachment of mitotic spindle microtubules to kinetochore and mitotic spindle organization. Located in centrosome; mitotic spindle pole; and spindle microtubule. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

FAM82B

MANE transcript

NM_016033.3

Inheritance

—

ClinVar variants

U:52B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.83

Max pathogenic AF

—

Genomic locus

chr8:86,468,257-86,514,357

External References & Databases

Ensembl (ENSG00000176623)

Transcript & Mutation Effects

hg38 • Region Span ~46.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RMDN1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 44

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016033.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			45 clinvar			45
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	52	1	0	53

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 94 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016033.3	RefSeq	NP_057117.2	10	MANE Select
ENST00000406452.8	Ensembl	ENSP00000385927.3	10	MANE Select
NM_001286707.2	RefSeq	NP_001273636.1	9	Standard
NM_001286719.2	RefSeq	NP_001273648.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

spindle pole
cytoplasm
microtubule

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000406452
Coding exons: 10
Length: 46101
Individuals with no LoFs: 125637
Homozygous LoFs: 1
Heterozygous LoFs: 110
Defined: 125748
p: 0.000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.338	168	156	1.08	0.00000746	2014
Missense (PolyPhen)		35	25.618	1.3662		302
Synonymous	-0.557	62	56.7	1.09	0.00000273	588
Loss of Function	0.673	16	19.2	0.834	8.15e-7	256

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00050	0.00049	rare
Latino/Admixed American	0.000034	0.000029	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00011	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00024	0.00023	rare
South Asian	0.0023	0.0023	notable
Other	0.00050	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.104

Intolerance Scores

RVIS EVS: -0.09
RVIS percentile EVS: 46.74

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium