Gene Gene information from NCBI Gene database.
Entrez ID 132158
Gene name Glycerate kinase
Gene symbol GLYCTK
Synonyms (NCBI Gene)
HBEBP2HBEBP4HBeAgBP4A
Chromosome 3
Chromosome location 3p21.2
Summary This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associa
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs121909448 T>G Likely-pathogenic Non coding transcript variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, 3 prime UTR variant, intron variant, missense variant
miRNA miRNA information provided by mirtarbase database.
149
miRTarBase ID miRNA Experiments Reference
MIRT036629 hsa-miR-940 CLASH 23622248
MIRT1022164 hsa-miR-125a-5p CLIP-seq
MIRT1022165 hsa-miR-125b CLIP-seq
MIRT1022166 hsa-miR-1291 CLIP-seq
MIRT1022167 hsa-miR-2110 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 16189514, 19060904, 25416956, 32296183
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 16753811
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610516 24247 ENSG00000168237
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IVS8
Protein name Glycerate kinase (EC 2.7.1.31) (HBeAg-binding protein 4)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13660 DUF4147 37 289 Domain of unknown function (DUF4147) Domain
PF05161 MOFRL 402 514 MOFRL family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16753811}.
Sequence
Sequence length 523
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pentose phosphate pathway
Glycine, serine and threonine metabolism
Glycerolipid metabolism
Glyoxylate and dicarboxylate metabolism
Metabolic pathways
Carbon metabolism
  Fructose catabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
D-Glyceric aciduria Pathogenic rs121909447, rs121909449 RCV000077847
RCV000077848
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GLYCTK-related disorder Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign rs751406166, rs149065444, rs145897189, rs760568952, rs2471080564, rs146250137, rs769693391, rs1174681511, rs150662353, rs34908853, rs145182754, rs199870798 RCV003968860
RCV003913692
RCV003936462
RCV003421080
RCV003421145
RCV003427768
RCV003393150
RCV003901807
RCV003918449
RCV003926249
RCV003920765
RCV003932975
Malignant tumor of urinary bladder Uncertain significance rs767047161 RCV005891062
Ovarian serous cystadenocarcinoma Uncertain significance rs777350645 RCV005932226
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 29947131
Schizophrenia Associate 29947131