CDIN1 (CDAN1 interacting nuclease 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84529
Gene name Gene Name - the full gene name approved by the HGNC.
CDAN1 interacting nuclease 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDIN1
Synonyms (NCBI Gene) Gene synonyms aliases
C15orf41, HH114
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q14
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isofor
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(9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 31191338
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
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
615626 26929 ENSG00000186073
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y2V0
Protein name CDAN1-interacting nuclease 1 (Protein HH114)
Protein function Plays a role in erythroid cell differentiation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14811 TPD 132 → 269 Protein of unknown function TPD sequence-motif Family
Sequence 
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHH
TSEAIESYYQRYLNGVVKNGAAPVLLDLANEVDYAPSLMARLILERFLQEHEETPPSKSI
INSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHAIGHEHEVLLRDLLLEKNLSF
LDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRF
GPGLVIYWYGFIQELDCNRERGILLKACFPTNIVTLCHSIA
Sequence length 281
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 Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Anemia Congenital dyserythropoietic anemia type type 1B rs587777100, rs587777101, rs1595503440 N/A
Show/Hide Unknown Diseases (2)
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
Alzheimer disease Alzheimer's disease or gastroesophageal reflux disease N/A N/A GWAS
Restless Legs Syndrome Restless legs syndrome N/A N/A GWAS