Gene Gene information from NCBI Gene database.
Entrez ID 54784
Gene name AlkB homolog 4, lysine demethylase
Gene symbol ALKBH4
Synonyms (NCBI Gene)
ABH4
Chromosome 7
Chromosome location 7q22.1
miRNA miRNA information provided by mirtarbase database.
346
miRTarBase ID miRNA Experiments Reference
MIRT029173 hsa-miR-26b-5p Microarray 19088304
MIRT048965 hsa-miR-92a-3p CLASH 23622248
MIRT041261 hsa-miR-193b-3p CLASH 23622248
MIRT614463 hsa-miR-1323 HITS-CLIP 23824327
MIRT614462 hsa-miR-548o-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IDA 23673617
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 21516116, 23145062, 25416956, 31515488, 32296183
GO:0005634 Component Nucleus IEA
GO:0005730 Component Nucleolus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613302 21900 ENSG00000160993
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NXW9
Protein name Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4 (Alkylated DNA repair protein alkB homolog 4) (DNA N6-methyl adenine demethylase ALKBH4) (EC 1.14.11.51) (Lysine-specific demethylase ALKBH4) (EC 1.14.11.-)
Protein function Dioxygenase that mediates demethylation of actin monomethylated at 'Lys-84' (K84me1), thereby acting as a regulator of actomyosin-processes (PubMed:23673617). Demethylation of actin K84me1 is required for maintaining actomyosin dynamics supporti
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest expression in pancreas, ovary and spleen. {ECO:0000269|PubMed:17979886}.
Sequence
MAAAAAETPEVLRECGCKGIRTCLICERQRGSDPPWELPPAKTYRFIYCSDTGWAVGTEE
SDFEGWAFPFPGVMLIEDFVTREEEAELVRLMDRDPWKLSQSGRRKQDYGPKVNFRKQKL
KTEGFCGLPSFSREVVRRMGLYPGLEGFRPVEQCNLDYCPERGSAIDPHLDDAWLWGERL
VSLNLLSPTVLSMCREAPGSLLLCSAPSAAPEALVDSVIAPSRSVLCQEVEVAIPLPARS
LLVLTGAARHQWKHAIHRRHIEARRVCVTFRELSAEFGPGGRQQELGQELLRIALSFQGR
PV
Sequence length 302
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations