HCG22 (HLA complex group 22)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
285834
Gene name Gene Name - the full gene name approved by the HGNC.
HLA complex group 22
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HCG22
Synonyms (NCBI Gene) Gene synonyms aliases
PBMUCL2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613918 27780 ENSG00000228789
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID E2RYF7
Protein name Protein PBMUCL2 (HLA complex group 22) (Panbronchiolitis-related mucin-like protein 2)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16058 Mucin-like 160 → 248 Mucin-like Family
Tissue specificity TISSUE SPECIFICITY: Detected in the brain, lung, spleen, thymus and prostate. {ECO:0000269|PubMed:20981447}.
Sequence 
MPRYVPLLLLLLLLRCSERGGGVNFGEKDAKVPGTWRDGVRVPGEGASWDSDRASPERRY
GIVGLSQSISTKHPETSPKDSRIRENDVTADGRTTEDHITADPGTTEDSVTADPGTTEDN
VTVDPGTTEGSVTADPATTKDYVSADPGTTKDSVTADPGTTENFVTADPGTTKDSITADP
RTTEDSVTADPGTTKHSITVDPGTTEDSVTADPGTTKHSITADPGTTEDSVTADPGTTED
ETTKHGDTHLL
Sequence length 251
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Dental caries Dental caries N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Hypertension Essential hypertension (time to event) N/A N/A GWAS
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 19950296
Carcinoma Associate 34859625
HIV Infections Associate 28132517
Infections Associate 28132517
Lupus Nephritis Associate 24925725
Mouth Neoplasms Associate 32571304
Neoplasm Metastasis Associate 38497386
Neoplasms Inhibit 30178634
Ocular Hypertension Associate 25813999
Squamous Cell Carcinoma of Head and Neck Associate 28415559, 30178634, 30282065, 31815689, 36118668