HCG22
Chr 6HLA complex group 22
Also known as: PBMUCL2
Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]
8
ClinVar variants
6
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— HCG22
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 2 VUS of 8 total submissions
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
8 submitted variants in ClinVar
Classification Summary
Pathogenic4
Likely Pathogenic2
VUS2
4
Pathogenic
2
Likely Pathogenic
2
VUS
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 4 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 2 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 8 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HCG22 · 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
HLA COMPLEX GROUP 22; HCG22
MIM #613918 · *
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Comprehensive bioinformatics analysis identifies lncRNA HCG22 as a migration inhibitor in esophageal squamous cell carcinoma.
Li X et al.·J Cell Biochem
2020
Identification of Potential Diagnostic Biomarkers and Drug Targets for Endometriosis from a Genetic Perspective: A Mendelian Randomization Study.
Wang W et al.·Gynecol Obstet Invest
2025
Multiomics Immune-Related lncRNA Analysis of Oral Squamous Cell Carcinoma and Its Correlation with Prognosis.
Liu Z et al.·Dis Markers
2022
Genome-Wide Analyses Reveal Gene Influence on HIV Disease Progression and HIV-1C Acquisition in Southern Africa.
Xie W et al.·AIDS Res Hum Retroviruses
2017
Construction and analysis of a lncRNA-miRNA-mRNA network based on competitive endogenous RNA reveal functional lncRNAs in oral cancer.
Yin J et al.·BMC Med Genomics
2020Functional
A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy.
Meder B et al.·Eur Heart J
2014
How Long Non-Coding RNAs and MicroRNAs Mediate the Endogenous RNA Network of Head and Neck Squamous Cell Carcinoma: a Comprehensive Analysis.
Zhao G et al.·Cell Physiol Biochem
2018
Transcriptomic analysis reveals key lncRNAs associated with ribosomal biogenesis and epidermis differentiation in head and neck squamous cell carcinoma.
Guo YZ et al.·J Zhejiang Univ Sci B
2018
Integrated analysis of a competing endogenous RNA network reveals key lncRNAs as potential prognostic biomarkers for human bladder cancer.
Zhu N et al.·Medicine (Baltimore)
2018
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
lncRNA HCG22 regulated cell growth and metastasis of papillary thyroid cancer via negatively modulating miR-425-5p.
Cao X et al.·Endokrynol Pol
2024
Long non-coding RNA HCG22 inhibits the proliferation, invasion and migration of oral squamous cell carcinoma cells by downregulating miR-425-5p expression.
Fu Y et al.·Exp Ther Med
2022🔓 Open Access
Expression and mechanism of long non-coding RNA HCG22 in oral squamous cell carcinoma.
Gao YQ et al.·Hua Xi Kou Qiang Yi Xue Za Zhi
2021Functional
Differential expression of long non-coding RNAs SRA, HCG22 and MHRT in children with Kawasaki disease.
Zhou Q et al.·Exp Ther Med
2021
Assessment of multiple pathways involved in the inhibitory effect of HCG22 on oral squamous cell carcinoma progression.
Wang M et al.·Mol Cell Biochem
2021
Top 5 resultsSearch Europe PMC ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)