FTCDNL1 (formiminotransferase cyclodeaminase N-terminal like)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
348751
Gene name Gene Name - the full gene name approved by the HGNC.
Formiminotransferase cyclodeaminase N-terminal like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FTCDNL1
Synonyms (NCBI Gene) Gene synonyms aliases
FONG
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.1
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(2)
GO ID Ontology Definition Evidence Reference
GO:0005542 Function Folic acid binding IEA
GO:0016740 Function Transferase activity 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
614308 48661 ENSG00000226124
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID E5RQL4
Protein name Formiminotransferase N-terminal subdomain-containing protein (Formiminotransferase-cyclodeaminase N-terminal-like protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07837 FTCD_N 10 → 80 Formiminotransferase domain, N-terminal subdomain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in liver and skeletal muscle, and moderate levels in kidney, bone and pancreas. {ECO:0000269|PubMed:21573128}.
Sequence 
MSSSRVGLRLAACLLNVSEAGRKYIVENIAKAALLDKNGKKHPQVSVLNIFSDQDYKRSV
ITIATSVDKLGLAEDLVLHVPGCSVFLFGEADLPEKRSLVQRRKQLGWFTRRDFSALQPD
LGAAPSQRCGLTGSEHGFCFALFFFFF
Sequence length 147
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 (4)
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
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Osteoporosis Osteoporosis N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Osteoporosis Associate 21573128, 26492493