Gene Gene information from NCBI Gene database.
Entrez ID 205
Gene name Adenylate kinase 4
Gene symbol AK4
Synonyms (NCBI Gene)
AK 4AK3AK3L1AK3L2
Chromosome 1
Chromosome location 1p31.3
Summary This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible trans
miRNA miRNA information provided by mirtarbase database.
1105
miRTarBase ID miRNA Experiments Reference
MIRT030106 hsa-miR-26b-5p Microarray 19088304
MIRT030613 hsa-miR-24-3p Sequencing 20371350
MIRT508945 hsa-miR-5197-3p PAR-CLIP 20371350
MIRT508946 hsa-miR-3929 PAR-CLIP 20371350
MIRT508944 hsa-miR-4419b PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ATF3 Unknown 23002211
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002082 Process Regulation of oxidative phosphorylation IMP 26980435
GO:0004017 Function AMP kinase activity IDA 11485571
GO:0004017 Function AMP kinase activity IDA 19766732
GO:0004550 Function Nucleoside diphosphate kinase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
103030 363 ENSG00000162433
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P27144
Protein name Adenylate kinase 4, mitochondrial (EC 2.7.4.4) (EC 2.7.4.6) (Adenylate kinase 3-like) (GTP:AMP phosphotransferase AK4)
Protein function Broad-specificity mitochondrial nucleoside phosphate kinase involved in cellular nucleotide homeostasis by catalyzing nucleoside-phosphate interconversions (PubMed:19073142, PubMed:19766732, PubMed:23416111, PubMed:24767988). Similar to other ad
PDB 2AR7 , 2BBW , 3NDP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00406 ADK 10 190 Domain
PF05191 ADK_lid 126 161 Adenylate kinase, active site lid Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney, moderately expressed in heart and liver and weakly expressed in brain. {ECO:0000269|PubMed:11485571}.
Sequence
Sequence length 223
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Thiamine metabolism
Metabolic pathways
Nucleotide metabolism
Biosynthesis of cofactors
  Interconversion of nucleotide di- and triphosphates
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
OSTEOARTHRITIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
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
Actinic keratosis Actinic keratosis BEFREE 29526028, 30887613
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23002211, 30696468
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35948448 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 19130895
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 31463832
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31827645
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32956623 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 31463832
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 23002211, 30696468
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 35220277 Associate
★☆☆☆☆
Found in Text Mining only