HCP5

Chr 6

HLA complex P5

Also known as: 6S2650E, D6S2650E, P5-1

NCBI Gene: 10866ENSG00000206337UniProt: Q6MZN7
12
ClinVar variants
7
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— HCP5
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 3 VUS of 12 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

12 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic3
VUS3
Benign1
Conflicting1
4
Pathogenic
3
Likely Pathogenic
3
VUS
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————4
Likely Pathogenic
————3
VUS
————3
Likely Benign
————0
Benign
————1
Conflicting
—1
Total—12

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

HCP5 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
An Intronic HCP5 Variant Is Associated With Age of Onset and Susceptibility to Graves Disease in UK and Polish Cohorts.
Lane LC et al.·J Clin Endocrinol Metab
2020Meta-analysis
Validation and functional follow-up of cervical cancer risk variants at the HLA locus.
Eisenblätter R et al.·HLA
2024Natural history
Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta-Analyses.
Zhu C et al.·Arthritis Rheumatol
2025Meta-analysis
LncRNA HCP5 promotes LAML progression via PSMB8-mediated PI3K/AKT pathway activation.
Lei M et al.·Naunyn Schmiedebergs Arch Pharmacol
2020
HCP5 promotes colon cancer development by activating AP1G1 via PI3K/AKT pathway.
Yun WK et al.·Eur Rev Med Pharmacol Sci
2019
Upregulation of SLC12A3 and SLC12A9 Mediated by the HCP5/miR-140-5p Axis Confers Aggressiveness and Unfavorable Prognosis in Uveal Melanoma.
Yan C et al.·Lab Invest
2023
STAT4, TRAF3IP2, IL10, and HCP5 Polymorphisms in Sjögren's Syndrome: Association with Disease Susceptibility and Clinical Aspects.
Colafrancesco S et al.·J Immunol Res
2019
Association of HLA-C and HCP5 gene regions with the clinical course of HIV-1 infection.
van Manen D et al.·AIDS
2009
lncRNA HCP5 acts as a ceRNA to regulate EZH2 by sponging miR‑138‑5p in cutaneous squamous cell carcinoma.
Zou S et al.·Int J Oncol
2021
HCP5, as the sponge of miR-1291, facilitates AML cell proliferation and restrains apoptosis via increasing PIK3R5 expression.
Liu Y et al.·Hum Genomics
2021
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools