ADAD1 (adenosine deaminase domain containing 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
132612
Gene name Gene Name - the full gene name approved by the HGNC.
Adenosine deaminase domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADAD1
Synonyms (NCBI Gene) Gene synonyms aliases
Tenr
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q27
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(15)
GO ID Ontology Definition Evidence Reference
GO:0001673 Component Male germ cell nucleus IEA
GO:0003723 Function RNA binding IEA
GO:0003725 Function Double-stranded RNA binding IBA
GO:0003726 Function Double-stranded RNA adenosine deaminase activity IBA
GO:0004000 Function Adenosine deaminase 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
614130 30713 ENSG00000164113
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96M93
Protein name Adenosine deaminase domain-containing protein 1 (Testis nuclear RNA-binding protein)
Protein function Required for male fertility and normal male germ cell differentiation (By similarity). Plays a role in spermatogenesis (By similarity). Binds to RNA but not to DNA (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00035 dsrm 97 → 162 Double-stranded RNA binding motif Domain
PF02137 A_deamin 249 → 568 Adenosine-deaminase (editase) domain Family
Sequence
Sequence length 576
Interactions View interactions
<
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 (6)
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
Allergic Sensitization Allergic sensitization N/A N/A GWAS
Asthma Atopic asthma, Asthma (adult onset), Asthma, Asthma (childhood onset), Asthma onset (childhood vs adult) N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arrest of spermatogenesis Associate 35173218
Arthritis Juvenile Associate 20722033
Arthritis Rheumatoid Associate 17999365, 19302705, 20553587
Autoimmune Diseases Associate 17999365, 20184734, 20553587
Azoospermia Associate 35173218
Celiac Disease Associate 17999365
Colitis Associate 30863922
Colorectal Neoplasms Associate 32571262, 39208330
Diabetes Mellitus Type 1 Associate 17999365, 20553587, 21875375, 30863922
Drug Hypersensitivity Associate 30863922