ALKBH4 (alkB homolog 4, lysine demethylase)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 54784 |
| Gene name | AlkB homolog 4, lysine demethylase |
| Gene symbol | ALKBH4 |
| Synonyms (NCBI Gene) |
ABH4
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| Chromosome | 7 |
| Chromosome location | 7q22.1 |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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 |
| Sequence length | 302 |
| Interactions | View interactions |
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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Related Genes
Genes most often co-reported with ALKBH4 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to ALKBH4 (see Related Genes above), that are NOT already directly curated for ALKBH4 itself -- a lead worth checking, not a confirmed association.
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