Gene Gene information from NCBI Gene database.
Entrez ID 338699
Gene name Ankyrin repeat domain 42
Gene symbol ANKRD42
Synonyms (NCBI Gene)
PPP1R79SARP
Chromosome 11
Chromosome location 11q14.1
miRNA miRNA information provided by mirtarbase database.
191
miRTarBase ID miRNA Experiments Reference
MIRT022615 hsa-miR-124-3p Microarray 18668037
MIRT662373 hsa-miR-4432 HITS-CLIP 23824327
MIRT625579 hsa-miR-508-5p HITS-CLIP 23824327
MIRT662372 hsa-miR-451b HITS-CLIP 23824327
MIRT662371 hsa-miR-6501-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0004861 Function Cyclin-dependent protein serine/threonine kinase inhibitor activity IBA
GO:0005634 Component Nucleus IBA
GO:0051059 Function NF-kappaB binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619778 26752 ENSG00000137494
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N9B4
Protein name Ankyrin repeat domain-containing protein 42
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 30 128 Ankyrin repeats (3 copies) Repeat
PF13637 Ank_4 100 151 Repeat
PF13637 Ank_4 131 184 Repeat
PF13637 Ank_4 240 290 Repeat
Sequence
MPGVANSGPSTSSRETANPCSRKKVHFGSIHDAVRAGDVKQLSEIVCLHWLLWHGADITH
VTTRGWTASHIAAIRGQDACVQALIMNGANLTAQDDRGC
TPLHLAATHGHSFTLQIMLRS
GVDPSVTD
KREWRPVHYAAFHGRLGCLQLLVKWGCSIEDVDYNGNLPVHLAAMEGHLHCF
KFLV
SRMSSATQVLKAFNDNGENVLDLAQRFFKQNILQFIQGAEYEGKDLEDQETLAFPG
HVAAFKGDLGMLKKLVEDGVININERADNGSTPMHKAAGQGHIECLQWLI
KMGADSNITN
KAGERPSDVAKRFAHLAAVKLLEELQKYDIDDENEIDENDVKYFIRHGVEGSTDAKDDLC
LSDLDKTDARRPSKNCRASWSMNDYVEKN
Sequence length 389
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
DIABETIC KETOACIDOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Sepsis Associate 29885947
★☆☆☆☆
Found in Text Mining only
Systemic Inflammatory Response Syndrome Associate 29885947
★☆☆☆☆
Found in Text Mining only