RMDN2

regulator of microtubule dynamics 2

Basic information

Region (hg38): 2:37923187-38067142

Previous symbols: [ "FAM82A", "FAM82A1" ]

Links

ENSG00000115841 ∙ NCBI:151393 ∙ OMIM:611872 ∙ HGNC:26567 ∙ Uniprot:Q96LZ7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RMDN2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RMDN2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			18	2		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			23	2	2	27
Total	0	0	41	4	2

Variants in RMDN2

This is a list of pathogenic ClinVar variants found in the RMDN2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-37929288-C-A		not specified	Uncertain significance (Jun 21, 2023)
2-37929355-G-C		not specified	Uncertain significance (Jun 22, 2024)
2-37929388-G-A		not specified	Uncertain significance (Aug 02, 2023)
2-37929609-T-G		not specified	Uncertain significance (Apr 01, 2024)
2-37929621-T-A		not specified	Uncertain significance (Oct 06, 2021)
2-37929677-A-G		not specified	Likely benign (Apr 04, 2024)
2-37951249-C-G		not specified	Uncertain significance (May 31, 2023)
2-37951268-C-T		not specified	Uncertain significance (Sep 22, 2022)
2-37951303-C-T		not specified	Uncertain significance (Nov 16, 2021)
2-37951304-G-A		not specified	Likely benign (Apr 19, 2024)
2-37951316-C-T		not specified	Uncertain significance (Jul 19, 2023)
2-37951361-C-T		not specified	Uncertain significance (Jun 10, 2024)
2-37951372-C-A		not specified	Uncertain significance (Nov 17, 2023)
2-37951385-C-A		not specified	Uncertain significance (Mar 07, 2023)
2-37951431-C-G		not specified	Uncertain significance (Dec 14, 2023)
2-37951541-A-G		not specified	Uncertain significance (Jun 16, 2023)
2-37951550-C-T		not specified	Uncertain significance (Jun 07, 2024)
2-37951601-C-G		not specified	Uncertain significance (May 11, 2022)
2-37951613-G-A		not specified	Uncertain significance (Jul 27, 2022)
2-37951664-G-A		not specified	Uncertain significance (Mar 23, 2022)
2-37951675-T-C		not specified	Uncertain significance (Jul 11, 2023)
2-37951714-A-G		not specified	Uncertain significance (Nov 03, 2023)
2-37951734-A-G			Benign (Apr 02, 2018)
2-37951794-C-G		not specified	Likely benign (Oct 06, 2021)
2-37951826-A-T		not specified	Uncertain significance (Jan 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RMDN2	protein_coding	protein_coding	ENST00000234195	11	143956

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.41e-24	0.0000849	125579	0	162	125741	0.000644

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.23	404	296	1.36	0.0000146	3789
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00223	0.00220
Ashkenazi Jewish	0.000698	0.000695
East Asian	0.000274	0.000217
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000764	0.000756
Middle Eastern	0.000274	0.000217
South Asian	0.000531	0.000523
Other	0.000848	0.000815

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0748

Intolerance Scores

• rvis_EVS: 0.85
• rvis_percentile_EVS: 88.5

Haploinsufficiency Scores

• pHI: 0.120
• hipred: N
• hipred_score: 0.123
• ghis: 0.428

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rmdn2

Gene ontology

• Cellular component: spindle pole;Golgi apparatus;cytosol;microtubule;integral component of membrane;mitotic spindle
• Molecular function: protein binding