RGPD8

protein-coding

RANBP2 like and GRIP domain containing 8, the group of Tetratricopeptide repeat domain containing

Gene summary

Predicted to enable SUMO transferase activity. Predicted to be involved in NLS-bearing protein import into nucleus and nuclear export. Predicted to be part of nuclear pore. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

RANBP2L1

MANE transcript

NM_001164463.1

Inheritance

—

ClinVar variants

U:179B:17

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.67

Max pathogenic AF

—

Genomic locus

chr2:112,368,369-112,434,488

External References & Databases

Ensembl (ENSG00000169629)

Transcript & Mutation Effects

hg38 • Region Span ~66.1 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 RGPD8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 193

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001164463.1. 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				4 clinvar		4
missense			179 clinvar	13 clinvar		192
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	179	17	0	196

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001164463.1	RefSeq	NP_001157935.1	23	MANE Select
ENST00000302558.8	Ensembl	ENSP00000306637.3	23	MANE Select
ENST00000330575.10	Ensembl	ENSP00000327486.5	19	Standard
ENST00000330575.9	Ensembl	ENSP00000327486.5	19	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

RNA transport - Homo sapiens (human)

Biological Process

NLS-bearing protein import into nucleus
biological_process
positive regulation of GTPase activity

Molecular Function

GTPase activator activity
Ran GTPase binding

Cellular Component

nucleus
nuclear pore
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000302558
Coding exons: 23
Length: 64397
Individuals with no LoFs: 125366
Homozygous LoFs: 25
Heterozygous LoFs: 179
Defined: 125570
p: 0.000813

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.466	247	227	1.09	0.0000113	11391
Missense (PolyPhen)		53	49.5	1.0707		3832
Synonymous	-0.528	93	86.7	1.07	0.00000439	3295
Loss of Function	1.34	13	19.4	0.672	9.91e-7	1070

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000069	0.000062	rare
Latino/Admixed American	0.00028	0.00026	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.0047	0.0041	notable
European (Non-Finnish)	0.00070	0.00059	rare
South Asian	0.0014	0.0011	notable
Other	0.00071	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0426

Gene Damage Prediction

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