Gene Gene information from NCBI Gene database.
Entrez ID 55122
Gene name Akirin 2
Gene symbol AKIRIN2
Synonyms (NCBI Gene)
C6orf166FBI1dJ486L4.2
Chromosome 6
Chromosome location 6q15
miRNA miRNA information provided by mirtarbase database.
291
miRTarBase ID miRNA Experiments Reference
MIRT559632 hsa-miR-454-3p PAR-CLIP 21572407
MIRT559631 hsa-miR-4295 PAR-CLIP 21572407
MIRT559630 hsa-miR-130b-3p PAR-CLIP 21572407
MIRT559629 hsa-miR-3666 PAR-CLIP 21572407
MIRT559628 hsa-miR-301b-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0002821 Process Positive regulation of adaptive immune response IEA
GO:0002821 Process Positive regulation of adaptive immune response ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615165 21407 ENSG00000135334
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53H80
Protein name Akirin-2
Protein function Molecular adapter that acts as a bridge between a variety of multiprotein complexes, and which is involved in embryonic development, immunity, myogenesis and brain development (PubMed:34711951). Plays a key role in nuclear protein degradation by
PDB 7NHT
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed with the highest expression in peripheral blood leukocytes. {ECO:0000269|PubMed:18066067}.
Sequence
MACGATLKRTLDFDPLLSPASPKRRRCAPLSAPTSAAASPLSAAAATAASFSAAAASPQK
YLRMEPSPFGDVSSRLTTEQILYNIKQEYKRMQKRRHLETSFQQTDPCCTSDAQPHAFLL
SGPASPGTSSAASSPLKKEQPLFTLRQVGMICERLLKEREEKVREEYEEILNTKLAEQYD
AFVKFTHDQIMRRYGEQPASYVS
Sequence length 203
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 19244234
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 20812024
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 29904178 Associate
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma BEFREE 30886152
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 35589807 Associate
★☆☆☆☆
Found in Text Mining only
Choriocarcinoma Choriocarcinoma BEFREE 26093985
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 24857950
★☆☆☆☆
Found in Text Mining only
Congenital contractural arachnodactyly Congenital Contractural Arachnodactyly BEFREE 30886152
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 29904178 Associate
★☆☆☆☆
Found in Text Mining only
Gestational trophoblastic disease Hydatidiform mole BEFREE 26093985
★☆☆☆☆
Found in Text Mining only