ARK2C

Chr 18

arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C

Also known as: ARKL2, RNF111L2, RNF165, lncAMPC

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in motor neuron axon guidance and positive regulation of BMP signaling pathway. Predicted to act upstream of or within several processes, including forelimb morphogenesis; nervous system development; and protein polyubiquitination. Predicted to be part of protein-containing complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
1
Pubs (1 yr)
49
P/LP submissions
0%
P/LP missense
0.32
LOEUF· LoF intol.
Mechanism
Clinical SummaryARK2C
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
47 unique Pathogenic / Likely Pathogenic· 22 VUS of 76 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.32LOEUF
pLI 0.972
Z-score 3.71
OE 0.10 (0.040.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.94Z-score
OE missense 0.63 (0.540.72)
134 obs / 213.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.10 (0.040.32)
00.351.4
Missense OE0.63 (0.540.72)
00.61.4
Synonymous OE1.02
01.21.6
LoF obs/exp: 2 / 19.8Missense obs/exp: 134 / 213.8Syn Z: -0.13

ClinVar Variant Classifications

76 submitted variants in ClinVar

Classification Summary

Pathogenic45
Likely Pathogenic2
VUS22
Likely Benign2
45
Pathogenic
2
Likely Pathogenic
22
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
45
0
45
Likely Pathogenic
0
0
2
0
2
VUS
0
21
1
0
22
Likely Benign
0
0
1
1
2
Benign
0
0
0
0
0
Total02149171

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ARK2C · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC