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    CEP72 centrosomal protein 72 [ Homo sapiens (human) ]

    Gene ID: 55722, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CEP72provided by HGNC
    Official Full Name
    centrosomal protein 72provided by HGNC
    Primary source
    HGNC:HGNC:25547
    See related
    Ensembl:ENSG00000112877 MIM:616475; AllianceGenome:HGNC:25547
    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
    Summary
    The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lung (RPKM 2.7), thyroid (RPKM 2.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5p15.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (612340..676616)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (610390..666525)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (612455..668859)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374607 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:570939-571526 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86692/86693 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86701 Neighboring gene uncharacterized LOC105374608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:602876-603376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:603377-603877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:611378-612308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:612309-613238 Neighboring gene CEP72 divergent transcript Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:618691-619890 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86736 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:643172-643672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:643673-644173 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86745 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86749/86750 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86753 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86779 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86783 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:669166-669920 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86803 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86807 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:673521-674090 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86819 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_86823 and experimental_86827 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86831 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86835 Neighboring gene tubulin polymerization promoting protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86841/86842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:686929-687430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:692893-693475 Neighboring gene uncharacterized LOC101929898 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:694389-695267 Neighboring gene NANOG hESC enhancer GRCh37_chr5:708729-709282 Neighboring gene zinc finger DHHC-type containing 11B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:727349-727849 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:752062-752252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:753615-754114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22301 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:758511-759354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:759355-760198 Neighboring gene bromodomain containing 9 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Contribution of common and rare genetic variants in CEP72 on vincristine-induced peripheral neuropathy in brain tumour patients. Klumpers MJ, et al. Br J Clin Pharmacol, 2022 Jul. PMID 35150001, Free PMC Article
    2. Association between CEP72 genotype and persistent neuropathy in survivors of childhood acute lymphoblastic leukemia. Goodenough CG, et al. Leukemia, 2022 Apr. PMID 34980876, Free PMC Article
    3. Association of CEP72 rs924607 TT Genotype with Vincristine-induced Peripheral Neuropathy Measured by Motor Nerve Conduction Studies. Kavčič M, et al. Klin Padiatr, 2020 Nov. PMID 32877958
    4. An Inherited Genetic Variant in CEP72 Promoter Predisposes to Vincristine-Induced Peripheral Neuropathy in Adults With Acute Lymphoblastic Leukemia. Stock W, et al. Clin Pharmacol Ther, 2017 Mar. PMID 27618250, Free PMC Article
    5. Lack of association of the CEP72 rs924607 TT genotype with vincristine-related peripheral neuropathy during the early phase of pediatric acute lymphoblastic leukemia treatment in a Spanish population. Gutierrez-Camino A, et al. Pharmacogenet Genomics, 2016 Feb. PMID 26618658

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Contribution of common and rare genetic variants in CEP72 on vincristine-induced peripheral neuropathy in brain tumour patients.
      Title: Contribution of common and rare genetic variants in CEP72 on vincristine-induced peripheral neuropathy in brain tumour patients.
    2. Association between CEP72 genotype and persistent neuropathy in survivors of childhood acute lymphoblastic leukemia.
      Title: Association between CEP72 genotype and persistent neuropathy in survivors of childhood acute lymphoblastic leukemia.
    3. Comprehensive assessments of germline deletion structural variants reveal the association between prognostic MUC4 and CEP72 deletions and immune response gene expression in colorectal cancer patients.
      Title: Comprehensive assessments of germline deletion structural variants reveal the association between prognostic MUC4 and CEP72 deletions and immune response gene expression in colorectal cancer patients.
    4. Functional genetic variants in centrosome-related genes CEP72 and YWHAG confer susceptibility to gastric cancer.
      Title: Functional genetic variants in centrosome-related genes CEP72 and YWHAG confer susceptibility to gastric cancer.
    5. Association of CEP72 rs924607 TT Genotype with Vincristine-induced Peripheral Neuropathy Measured by Motor Nerve Conduction Studies.", trans "Assoziation von CEP72 rs924607TTGenotyp mit Vincristin-induzierter peripherer Neuropathie, gemessen durch Untersuchungen der motorischen Nervenleitung.
      Title: Association of CEP72 rs924607 TT Genotype with Vincristine-induced Peripheral Neuropathy Measured by Motor Nerve Conduction Studies.
    6. overexpression of CEP72 was associated with a sizable increase in cAMP response element-binding protein binding at the SERPINE1 promoter, leading to increased SERPINE1 transcription.
      Title: Overexpression of CEP72 Promotes Bladder Urothelial Carcinoma Cell Aggressiveness via Epigenetic CREB-Mediated Induction of SERPINE1.
    7. Concerning CEP72, our results are in line with the findings from the St Jude cohort of children treated for ALL with higher vincristine doses during chronic treatment. Larger high-throughput genetic analyses may be warranted to evaluate variants in other candidate genes such as CYP3A5 and reveal new nonpreviously reported alleles that may be peculiar to this region of the world
      Title: Genetic polymorphisms in candidate genes are not associated with increased vincristine-related peripheral neuropathy in Arab children treated for acute childhood leukemia: a single institution study.
    8. CEP72-ROS1 is a novel ROS1 fusion variant in non-small cell lung cancer (NSCLC) discovered by next-generation sequencing and could be included in ROS1 detection assay, such as reverse transcription PCR.
      Title: CEP72-ROS1: A novel ROS1 oncogenic fusion variant in lung adenocarcinoma identified by next-generation sequencing.
    9. CEP72 represents a putative oncogene in colorectal cancer that might negatively regulate the mitotic function of BRCA1 to ensure chromosomal stability
      Title: The putative oncogene CEP72 inhibits the mitotic function of BRCA1 and induces chromosomal instability.
    10. The CEP72 polymorphism can identify adults at increased risk of vincristine-induced peripheral neuropathy
      Title: An Inherited Genetic Variant in CEP72 Promoter Predisposes to Vincristine-Induced Peripheral Neuropathy in Adults With Acute Lymphoblastic Leukemia.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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
    Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC5307, FLJ10565, KIAA1519

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centriole replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in gamma-tubulin complex localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein localization to centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of protein localization to centrosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spindle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in centriolar satellite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein of 72 kDa
    Names
    centrosomal protein 72kDa

    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)

    1. NM_018140.4 → NP_060610.2  centrosomal protein of 72 kDa

      See identical proteins and their annotated locations for NP_060610.2

      Status: REVIEWED

      Source sequence(s)
      BC000132, BG718176
      Consensus CDS
      CCDS34126.1
      UniProtKB/Swiss-Prot
      B4DR26, Q9BV03, Q9BWM3, Q9NVR4, Q9P209
      Related
      ENSP00000264935.5, ENST00000264935.6
      Conserved Domains (3) summary
      sd00031
      Location:56 → 77
      LRR_1; leucine-rich repeat [structural motif]
      pfam14580
      Location:56 → 153
      LRR_9; Leucine-rich repeat
      cl25732
      Location:444 → 590
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. NR_164122.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC026740, AC106772

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      612340..676616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417363.1 → XP_047273319.1  centrosomal protein of 72 kDa isoform X1

      UniProtKB/Swiss-Prot
      B4DR26, Q9BV03, Q9BWM3, Q9NVR4, Q9P209

    2. XM_047417364.1 → XP_047273320.1  centrosomal protein of 72 kDa isoform X1

      UniProtKB/Swiss-Prot
      B4DR26, Q9BV03, Q9BWM3, Q9NVR4, Q9P209

    3. XM_047417365.1 → XP_047273321.1  centrosomal protein of 72 kDa isoform X1

      UniProtKB/Swiss-Prot
      B4DR26, Q9BV03, Q9BWM3, Q9NVR4, Q9P209

    4. XM_011514063.2 → XP_011512365.1  centrosomal protein of 72 kDa isoform X1

      See identical proteins and their annotated locations for XP_011512365.1

      UniProtKB/Swiss-Prot
      B4DR26, Q9BV03, Q9BWM3, Q9NVR4, Q9P209
      Conserved Domains (3) summary
      sd00031
      Location:56 → 77
      LRR_1; leucine-rich repeat [structural motif]
      pfam14580
      Location:56 → 153
      LRR_9; Leucine-rich repeat
      cl25732
      Location:444 → 590
      SMC_N; RecF/RecN/SMC N terminal domain

    5. XM_047417366.1 → XP_047273322.1  centrosomal protein of 72 kDa isoform X1

      UniProtKB/Swiss-Prot
      B4DR26, Q9BV03, Q9BWM3, Q9NVR4, Q9P209

    6. XM_005248322.4 → XP_005248379.1  centrosomal protein of 72 kDa isoform X2

      See identical proteins and their annotated locations for XP_005248379.1

      Conserved Domains (4) summary
      smart00446
      Location:68 → 85
      LRRcap; occurring C-terminal to leucine-rich repeats
      sd00031
      Location:6 → 27
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:4 → 44
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:4 → 53
      LRR_8; Leucine rich repeat

    7. XM_011514064.3 → XP_011512366.1  centrosomal protein of 72 kDa isoform X2

      See identical proteins and their annotated locations for XP_011512366.1

      Conserved Domains (4) summary
      smart00446
      Location:68 → 85
      LRRcap; occurring C-terminal to leucine-rich repeats
      sd00031
      Location:6 → 27
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:4 → 44
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:4 → 53
      LRR_8; Leucine rich repeat

    8. XM_047417367.1 → XP_047273323.1  centrosomal protein of 72 kDa isoform X2

    9. XM_047417368.1 → XP_047273324.1  centrosomal protein of 72 kDa isoform X3

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187550.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      6636..14557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      610390..666525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P209.2 GenPept UniProtKB/Swiss-Prot:Q9P209

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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