CMPK2

Protein identityUniProt · HPA

UniProt accession

Q5EBM0

Gene

CMPK2

Ensembl

ENSG00000134326

Chromosome

2

Canonical length

449 aa

Protein class

Enzymes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Mitochondria

OverviewNCBI Gene

This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

449 residues, UniProt reviewed canonical sequence.

>Q5EBM0|CMPK2
     1  MAFARRLLRG PLSGPLLGRR GVCAGAMAPP RRFVLELPDC TLAHFALGAD APGDADAPDP
    61  RLAALLGPPE RSYSLCVPVT PDAGCGARVR AARLHQRLLH QLRRGPFQRC QLLRLLCYCP
   121  GGQAGGAQQG FLLRDPLDDP DTRQALLELL GACQEAPRPH LGEFEADPRG QLWQRLWEVQ
   181  DGRRLQVGCA QVVPVPEPPL HPVVPDLPSS VVFPDREAAR AVLEECTSFI PEARAVLDLV
   241  DQCPKQIQKG KFQVVAIEGL DATGKTTVTQ SVADSLKAVL LKSPPSCIGQ WRKIFDDEPT
   301  IIRRAFYSLG NYIVASEIAK ESAKSPVIVD RYWHSTATYA IATEVSGGLQ HLPPAHHPVY
   361  QWPEDLLKPD LILLLTVSPE ERLQRLQGRG MEKTREEAEL EANSVFRQKV EMSYQRMENP
   421  GCHVVDASPS REKVLQTVLS LIQNSFSEP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CMPK2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

8 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CMPK2.

Disease | AllUniProt

Conditions CMPK2 is implicated in, by any mechanism.

• Basal ganglia calcification, idiopathic, 10, autosomal recessive (IBGC10) MIM:621018

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 114 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Basal ganglia calcification, idiopathic, 10, autosomal recessive

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.44

gnomAD pLI

0

gnomAD missense Z

0.27

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to lipopolysaccharide
• dTDP biosynthetic process
• dTTP biosynthetic process
• dUDP biosynthetic process

Molecular functions

• ATP binding
• CMP kinase activity
• dCMP kinase activity
• dTMP kinase activity
• nucleoside diphosphate kinase activity
• UMP kinase activity
• dUMP kinase activity

Cellular components

• cytoplasm
• mitochondrion
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• P-loop containing nucleoside triphosphate hydrolase
• Thymidylate kinase-like domain
• Thymidylate kinase
• UMP-CMP kinase 2, mitochondrial

KeywordsUniProt

• ATP-binding
• Coiled coil
• Kinase
• Mitochondrion
• Nucleotide-binding
• Pyrimidine biosynthesis
• Transferase
• Transit peptide