Gene Gene information from NCBI Gene database.
Entrez ID 53940
Gene name Ferritin heavy chain like 17
Gene symbol FTHL17
Synonyms (NCBI Gene)
CT38
Chromosome X
Chromosome location Xp21.2
Summary This gene encodes a ferritin heavy chain-like protein. This gene is primarily expressed in embryonic germ cells. The encoded protein may lack ferroxidase activity. Multiple pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Oct 2016]
miRNA miRNA information provided by mirtarbase database.
5
miRTarBase ID miRNA Experiments Reference
MIRT2231653 hsa-miR-137 CLIP-seq
MIRT2231654 hsa-miR-146a CLIP-seq
MIRT2231655 hsa-miR-146b-5p CLIP-seq
MIRT2231656 hsa-miR-580 CLIP-seq
MIRT2231657 hsa-miR-589 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IBA
GO:0006826 Process Iron ion transport IEA
GO:0006879 Process Intracellular iron ion homeostasis IEA
GO:0008198 Function Ferrous iron binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300308 3987 ENSG00000132446
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXU8
Protein name Ferritin heavy polypeptide-like 17 (Cancer/testis antigen 38) (CT38)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00210 Ferritin 18 159 Ferritin-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Testis specific. Also expressed in several cancers. {ECO:0000269|PubMed:12704671}.
Sequence
Sequence length 183
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
EYE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EYE INFECTIOUS DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma of large intestine Colorectal adenoma BEFREE 23301059
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 14531651 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23301059, 30922653 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 28207785
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 28207785
★☆☆☆☆
Found in Text Mining only
Swyer Syndrome Swyer Syndrome BEFREE 30922653
★☆☆☆☆
Found in Text Mining only