CT55 (cancer/testis antigen 55)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 54967
Gene name Cancer/testis antigen 55
Gene symbol CT55
Synonyms (NCBI Gene)
BJHCC20ACXorf48SPGFX7
Chromosome X
Chromosome location Xq26.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IDA 36481789
GO:0001669 Component Acrosomal vesicle IEA
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183, 36481789
GO:0005737 Component Cytoplasm IDA 36481789
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
301105 26047 ENSG00000169551
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WUE5
Protein name Cancer/testis antigen 55 (Tumor antigen BJ-HCC-20)
Protein function Plays a role in spermatogenesis, possibly acting in the regulation of the autophagy pathway.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14444 S1-like 37 → 87 S1-like Domain
PF14444 S1-like 179 → 235 S1-like Domain
Tissue specificity TISSUE SPECIFICITY: Testis-specific (PubMed:15499386). Expressed in spermatozoa (at protein level) (PubMed:36481789). {ECO:0000269|PubMed:15499386, ECO:0000269|PubMed:36481789}.
Sequence 
MLRLLRLALAFYGRTADPAERQGPQQQGLPQGDTQLTTVQGVVTSFCGDYGMIDESIYFS
SDVVTGNVPLKVGQKVNVVVEEDKPHYGLRAIKVDVVPRHLYGAGPSDSGTRVLIGCVTS
INEDNIYISNSIYFSIAIVSEDFVPYKGDLLEVEYSTEPGISNIKATSVKPIRCIHTEEV
CITSVHGRNGVIDYTIFFTLDSVKLPDGYVPQVDDIVNVVMVESIQFCFIWRAISITPVH
KSSSGFQDDGGLGRPKRERRSQSI
Sequence length 264
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spermatogenic failure, X-linked, 7 Pathogenic rs2523229394 RCV003224650
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (1)
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.
Phenotype Name Clinical Significance Source Evidence Score
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION — Disgenet, Orphanet
Disgenet, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Astrocytoma Astrocytoma BEFREE 19653894
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Cancer, Familial Breast Cancer BEFREE 21285249
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 17200668, 21285249, 22293751
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17200668 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 30944312
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30944312
★★★★★
★☆☆☆☆
Found in Text Mining only
Fanconi Anemia Fanconi Anemia BEFREE 17200672
★★★★★
★☆☆☆☆
Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) Anemia BEFREE 17200672
★★★★★
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome Pubtator 16615912 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 17200668, 21285249, 22293751
★★★★★
★☆☆☆☆
Found in Text Mining only