Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
132158
Gene name Gene Name - the full gene name approved by the HGNC.
Glycerate kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GLYCTK
Synonyms (NCBI Gene) Gene synonyms aliases
HBEBP2, HBEBP4, HBeAgBP4A
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 19060904, 25416956, 32296183
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 16753811
GO:0005739 Component Mitochondrion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610516 24247 ENSG00000168237
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Epileptic encephalopathy Encephalopathies rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Associations from Text Mining
Disease Name Relationship Type References
Bipolar Disorder Associate 29947131
Schizophrenia Associate 29947131