Gene Gene information from NCBI Gene database.
Entrez ID 165100
Gene name Testis expressed 44
Gene symbol TEX44
Synonyms (NCBI Gene)
C2orf57
Chromosome 2
Chromosome location 2q37.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005737 Component Cytoplasm IDA 26168773
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53QW1
Protein name Testis-expressed protein 44
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15727 DUF4678 6 394 Domain of unknown function (DUF4678) Family
Tissue specificity TISSUE SPECIFICITY: Testis. Detected in germ cells at all stages of the seminiferous epithelium, strong expression in elongating spermatids (at protein level) (PubMed:26168773). {ECO:0000269|PubMed:26168773}.
Sequence
Sequence length 395
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Endometrial Neoplasms Associate 34817046
★☆☆☆☆
Found in Text Mining only