Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8872
Gene name Gene Name - the full gene name approved by the HGNC.
Cell division cycle 123
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDC123
Synonyms (NCBI Gene) Gene synonyms aliases
C10orf7, D123
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p14-p13
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020104 hsa-miR-361-5p Sequencing 20371350
MIRT027249 hsa-miR-101-3p Sequencing 20371350
MIRT028390 hsa-miR-30a-5p Proteomics 18668040
MIRT031400 hsa-miR-16-5p Proteomics 18668040
MIRT043215 hsa-miR-324-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 37507029
GO:0005515 Function Protein binding IPI 28514442, 33961781, 35271311, 37507029
GO:0005524 Function ATP binding IDA 37507029
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617708 16827 ENSG00000151465
Protein
UniProt ID O75794
Protein name Translation initiation factor eIF2 assembly protein (Cell division cycle protein 123 homolog) (Protein D123) (HT-1080) (PZ32)
Protein function ATP-dependent protein-folding chaperone for the eIF2 complex (PubMed:35031321, PubMed:37507029). Binds to the gamma subunit of the eIF2 complex which allows the subunit to assemble with the alpha and beta subunits (By similarity). {ECO:0000250|U
PDB 8PHD , 8PHV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07065 D123 14 314 D123 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocytes with the highest expression in testis. {ECO:0000269|PubMed:9683532}.
Sequence
Sequence length 336
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes (PheCode 250.2), Type 2 diabetes, Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy), Circulating leptin levels or type 2 diabetes, Childhood onset type 2 diabetes, Body fat percentage and type 2 diabetes (pairwise), Type ii diabetes, Type 2 diabetes (adjusted for BMI), Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23) N/A N/A GWAS
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Diabetes Mellitus Associate 18567820, 19833888, 24135527, 33479058
Diabetes Mellitus Type 2 Associate 18567820, 19833888, 22923468, 22961080, 24637646, 27281091, 29412141, 33706321
Glaucoma Open Angle Associate 9497264
Obesity Associate 18567820