CKB creatine kinase B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CKBprovided by HGNC
Official Full Name: creatine kinase Bprovided by HGNC
Primary source: HGNC:HGNC:1991
See related: Ensembl:ENSG00000166165 MIM:123280; AllianceGenome:HGNC:1991
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BCK; B-CK; CKBB; CPK-B; HEL-211; HEL-S-29
Summary: The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]
Expression: Broad expression in colon (RPKM 268.3), prostate (RPKM 227.9) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.33

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (103519667..103522830, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (97755711..97758874, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (103986004..103989167, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Creatine kinase B suppresses ferroptosis by phosphorylating GPX4 through a moonlighting function.
Title: Creatine kinase B suppresses ferroptosis by phosphorylating GPX4 through a moonlighting function.
CKB inhibits epithelial-mesenchymal transition and prostate cancer progression by sequestering and inhibiting AKT activation.
Title: CKB inhibits epithelial-mesenchymal transition and prostate cancer progression by sequestering and inhibiting AKT activation.
Clinical impact of creatine phosphokinase and c-reactive protein as predictors of postgastrectomy complications in patients with gastric cancer.
Title: Clinical impact of creatine phosphokinase and c-reactive protein as predictors of postgastrectomy complications in patients with gastric cancer.
Creatine kinase B controls futile creatine cycling in thermogenic fat.
Title: Creatine kinase B controls futile creatine cycling in thermogenic fat.
The data revealed a varying but significant increase of CK activity in CKBE individuals as compared to controls, reaching an almost 800-fold increase in two CKBE individuals which also had increased erythrocyte creatine.
Title: Creatine kinase in human erythrocytes: A genetic anomaly reveals presence of soluble brain-type isoform.
Association and oligomerization of Prx II could take part in recovery and protection of the CK BB enzyme activity from inactivation during heat-induced stress.
Title: Prx II and CKBB proteins interaction under physiologic al and thermal stress conditions in A549 and HeLa cells.
membrane localization of BCK seems to be an important and regulated feature for the fueling of membrane-located, ATP-dependent processes, stressing again the importance of local rather than global ATP concentrations.
Title: Cellular compartmentation of energy metabolism: creatine kinase microcompartments and recruitment of B-type creatine kinase to specific subcellular sites.
These findings support increased CK activity as protection against ischaemia-reperfusion injury, in particular, protection via CKMT2 in a cardiac-relevant cell line, which merits further investigation in vivo.
Title: Increasing creatine kinase activity protects against hypoxia / reoxygenation injury but not against anthracycline toxicity in vitro.
SRC, LYN and CKB expression or DNA methylation could be useful markers for predicting tumor progression.
Title: Deregulated Expression of SRC, LYN and CKB Kinases by DNA Methylation and Its Potential Role in Gastric Cancer Invasiveness and Metastasis.
CK-MB levels were higher after ERCP in non-ischemic patients compared with a myocardial ischemia group. Creatine phosphokinase levels did not differ significantly between groups.
Title: Role of serum myeloperoxidase, CPK, CK-MB, and cTnI tests in early diagnosis of myocardial ischemia during ERCP.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Egfr-rs (e-PCR), detects polymorphism
- UniSTS:142973

WI-8982 (e-PCR)
- UniSTS:43710

RH17667 (e-PCR)
- UniSTS:67306

NoName (e-PCR)
- UniSTS:479983

RH77930 (e-PCR)
- UniSTS:65534

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables creatine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables creatine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables creatine kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in futile creatine cycle	IEA Inferred from Electronic Annotation more info
involved_in phosphocreatine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphocreatine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in substantia nigra development	HEP more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info
is_active_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: creatine kinase B-type

Names: brain creatine kinase; creatine kinase B chain; creatine kinase brain; creatine kinase brain-type; creatine phosphokinase B-type; epididymis luminal protein 211; epididymis secretory protein Li 29

NP_001349460.1

EC 2.7.3.2

NP_001814.2

EC 2.7.3.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001362531.2 → NP_001349460.1 creatine kinase B-type isoform 2

Status: REVIEWED

Source sequence(s)

BM684665, BP213119, KU177978

Consensus CDS

CCDS91943.1

UniProtKB/TrEMBL

A0A0S2Z471, V9HW77

Related

ENSP00000508488.1, ENST00000689346.1

Conserved Domains (1) summary

cd00716
Location:16 → 397

creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes
NM_001823.5 → NP_001814.2 creatine kinase B-type isoform 1

See identical proteins and their annotated locations for NP_001814.2

Status: REVIEWED

Source sequence(s)

AK312282, BM684665, BP213119

Consensus CDS

CCDS9981.1

UniProtKB/Swiss-Prot

A8K236, B2R5R4, P12277, Q2LE07, Q6FG40, Q9UC66

UniProtKB/TrEMBL

V9HW77, V9HWH2

Related

ENSP00000299198.2, ENST00000348956.7

Conserved Domains (1) summary

cd00716
Location:16 → 373

creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes