MUC22 (mucin 22)

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Gene Gene information from NCBI Gene database.
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Entrez ID 100507679
Gene name Mucin 22
Gene symbol MUC22
Synonyms (NCBI Gene)
PBMUCL1
Chromosome 6
Chromosome location 6p21.33
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
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GO ID Ontology Definition Evidence Reference
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
613917 39755 ENSG00000261272
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
E2RYF6
Protein name Mucin-22 (Panbronchiolitis-related mucin-like protein 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14654 Epiglycanin_C 1646 → 1768 Mucin, catalytic, TM and cytoplasmic tail region Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in lung by serous cells of the submucosal gland (at protein level). Detected in the placenta, lung and testis. {ECO:0000269|PubMed:20981447}.
Sequence 
MRRGNISPAFWFLWLLLFGLLGPSSENTTAFTKGSDTTTASITGSETTMASTMASTSALT
TGSKITTDSTTGSETTSASTMASTAAFTTGSETNTASTTDSGTTIASTRTFTTGSDTTTG
STAGSETIVASTTVSGTTTTFTIASTTVPETTMASSTTSTAGSEKTMASSIISETTMAST
TGSETATVSTTGSETTTTSTASSEATKVSTTGSETTTASTAGSETTTTSTSMAGSEATTT
STADSKVITASSMSSETTVAPAAGSNTTTASTTGSETTTILIKASETTTASTAGSETTTP
SPTGSQTTIVSISGSEITTTSTAGSENTTVSSAGSGTTTASMAGSETTVSTAGSETTTVS
ITGTETTMVSAMGSETTTNSTTSSETTVTSTAGSETTTVSTVGSETTTAYTADSETTAAS
TTGSEMTTVFTAGSETITPSTAGSETTTVSTAGSETTTVSTTGSETTTASTAHSETTAAS
TMGSETTKVSTAGSETTVSTAGSETTAASTEDSETNTAFTEDSKTTTASTTGFETTAAST
TGSEPTMASTMGSETTMASTIGPETTKVSTASSEVTTVFAAGSETIRASTVGSETTTVST
TGSETTTASIMGSETSTDSTTGSETTTASTEGSETTTASTEGSEATTVSTTGSETTTVSI
TDSETTTTCTEGSEMTAVSTTVFETTTASTEGSEITIASTSDSETTTASTEGSETTTVTT
AGSETKTAYTTGSETTTASNTGLETTTVFTIGSDTTTASTEGSETTAVSATGSEMTTVST
EGSENTTVSTTGSETTTVSTTGLETTTTSTEGSEMTTVSTTGAETTTDSTEGSGTTAAST
AGSETTTVSTADSENTTASTADSETTSASTTGSETTTASTTSSETTTASTEGSETTTVST
TDSETTMVSTTGSERTITSTEGSETTTVSATGSETTVSTEGSGTTTVSITGSETTKVSTT
GSETTTTSTEGSEITTASITGSETTTASTEGSETTTASTEGSETTSASTTGSETTTASTT
SSETTMASIMGSETTMASTIGSETTKVSTASSKMTTVFTENSETTIASTTASETTTVSTA
GSETIPASTAGSETTTTTSTEGSETTTASTEGSETTTASTESSETTTATTIGSETTTAST
EGSETTTTSTEGSETTTASTEGSEITTVSTTGSETTTASTEGSETTTASTEGSELTTVST
TGSETITVSAEGSETTTVTTMGSETTTASTAGSETTTVSTAGSETTTASIEGSETTTVSS
TGSETTTVSTTGTETTITSTEGSETTTVTTAGSETTAVYTTGSETTTTSTEGSETTTVST
TGSETTTASTADLETTTVSTSGSGTTTASTAGSETTTVYITGSKTTTASTEGSEATTVST
TSSETTTASTTGSEMTTVFTTVSETTTVSTIGSEATTSSAAGSEATTTSTEGSETTTAST
AGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSESTIAST
ASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRT
TGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGS
TREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVG
LSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGT
HGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH
Sequence length 1773
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
39
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (39)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANKYLOSING SPONDYLITIS — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTI-GAD65 AUTOIMMUNE NEUROLOGICAL SYNDROMES — GWAS catalog 35348614
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 28540026
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME — GWAS catalog 37977914
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER — GWAS catalog 32887889
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (19)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 28356135 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASDB_DG 23263486
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis GWASCAT_DG 30552173
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 24406073, 35597955 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 28262390
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 32158625, 33786615 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Child Development Disorders, Pervasive Development Disorder GWASCAT_DG 28540026
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood asthma Asthma BEFREE 28262390
★★★★★
★☆☆☆☆
Found in Text Mining only
Diffuse panbronchiolitis Diffuse Panbronchiolitis BEFREE 20981447
★★★★★
★☆☆☆☆
Found in Text Mining only
Gout Gout GWASDB_DG 23263486
★★★★★
★☆☆☆☆
Found in Text Mining only
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HLA-G 4 shared diseasesPsoriatic arthritis, Cervical cancer, Non-melanoma skin carcinoma, Upper aerodigestive tract neoplasm 4 shared evidence sourcesGWAS catalog (Cervical cancer), GWAS catalog (Non-melanoma skin carcinoma), GWAS catalog (Psoriatic arthritis), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 4 shared diseases including Psoriatic arthritis, Cervical cancer — evidence mostly GWAS catalog. HLA-C 7 shared diseasesPsoriatic arthritis, Cancer, Cervical cancer, Hyperthyroidism, Psoriasis vulgaris, Stevens-johnson syndrome, Toxic epidermal necrolysis 7 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Cervical cancer), GWAS catalog (Hyperthyroidism), GWAS catalog (Psoriasis vulgaris), GWAS catalog (Psoriatic arthritis), GWAS catalog (Stevens-johnson syndrome), GWAS catalog (Toxic epidermal necrolysis) Related via 7 shared diseases including Psoriatic arthritis, Cancer — evidence mostly GWAS catalog. MUC21 4 shared diseasesCervical cancer, Oropharyngeal cancer, Preeclampsia, Upper aerodigestive tract neoplasm 4 shared evidence sourcesGWAS catalog (Cervical cancer), GWAS catalog (Oropharyngeal cancer), GWAS catalog (Preeclampsia), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 4 shared diseases including Cervical cancer, Oropharyngeal cancer — evidence mostly GWAS catalog. SMC2 5 shared diseasesCancer, Cervical cancer, Non-melanoma skin carcinoma, Stevens-johnson syndrome, Toxic epidermal necrolysis 5 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Cervical cancer), GWAS catalog (Non-melanoma skin carcinoma), GWAS catalog (Stevens-johnson syndrome), GWAS catalog (Toxic epidermal necrolysis) Related via 5 shared diseases including Cancer, Cervical cancer — evidence mostly GWAS catalog. MICA 5 shared diseasesPsoriatic arthritis, Cervical cancer, Non-melanoma skin carcinoma, Stevens-johnson syndrome, Toxic epidermal necrolysis 6 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Cervical cancer), GWAS catalog (Non-melanoma skin carcinoma), GWAS catalog (Psoriatic arthritis), GWAS catalog (Stevens-johnson syndrome), GWAS catalog (Toxic epidermal necrolysis) Related via 5 shared diseases including Psoriatic arthritis, Cervical cancer — evidence mostly GWAS catalog.
Asthma Linked via 3 of 5 related genesHLA-G, MUC21, MICA Insomnia Linked via 3 of 5 related genesHLA-G, MUC21, MICA Basal cell carcinoma Linked via 3 of 5 related genesHLA-C, SMC2, MICA Bipolar disorder Linked via 2 of 5 related genesHLA-G, MUC21 Alzheimer disease Linked via 2 of 5 related genesHLA-C, SMC2