RMDN2
protein-codingregulator of microtubule dynamics 2
Gene summary
Enables microtubule binding activity. Located in cytosol; mitotic spindle pole; and spindle microtubule. [provided by Alliance of Genome Resources, Jun 2026]
- FAM82A
- FAM82A1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~144.0 kbGenCC 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 RMDN2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001170791.3. 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 | 3 | 3 | ||||
| missense | 47 | 5 | 52 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 54 | 5 | 0 | 59 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001164262.1 | 10 | MANE Select | |
| Ensembl | ENSP00000346549.3 | 10 | MANE Select | |
| RefSeq | NP_001164263.1 | 10 | Standard | |
| RefSeq | NP_001164264.1 | 10 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Molecular Function
- protein binding
Cellular Component
- spindle pole
- Golgi apparatus
- cytosol
- microtubule
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000234195
- Coding exons
- 11
- Length
- 143956
- Individuals with no LoFs
- 125579
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 162
- Defined
- 125741
- p
- 0.000644
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -2.23 | 404 | 296 | 1.36 | 0.0000146 | 3789 |
| Missense (PolyPhen) | 97 | 82.667 | 1.1734 | 1119 | ||
| Synonymous | -2.99 | 137 | 99.1 | 1.38 | 0.00000470 | 1034 |
| Loss of Function | -0.813 | 33 | 28.3 | 1.16 | 0.00000138 | 368 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0018 | 0.0018 | notable |
| Latino/Admixed American | 0.00042 | 0.00040 | rare |
| Ashkenazi Jewish | 0.00070 | 0.00069 | rare |
| East Asian | 0.00027 | 0.00022 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00076 | 0.00076 | rare |
| South Asian | 0.00053 | 0.00052 | rare |
| Other | 0.00085 | 0.00081 | rare |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.0748
Intolerance Scores
- RVIS EVS
- 0.85
- RVIS percentile EVS
- 88.5
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 |