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    CYP2W1 cytochrome P450 family 2 subfamily W member 1 [ Homo sapiens (human) ]

    Gene ID: 54905, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CYP2W1provided by HGNC
    Official Full Name
    cytochrome P450 family 2 subfamily W member 1provided by HGNC
    Primary source
    HGNC:HGNC:20243
    See related
    Ensembl:ENSG00000073067 MIM:615967; AllianceGenome:HGNC:20243
    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
    This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in skin (RPKM 2.9), duodenum (RPKM 2.7) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CYP2W1 in Genome Data Viewer
    Location:
    7p22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (983181..989640)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (1088177..1094636)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (1022817..1029276)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ArfGAP with dual PH domains 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17830 Neighboring gene uncharacterized LOC124901569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:994600-995209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1002516-1003103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1006706-1007206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1007207-1007707 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1014408-1015290 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1015291-1016171 Neighboring gene cytochrome c oxidase assembly factor COX19 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1028403-1029003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17836 Neighboring gene chromosome 7 open reading frame 50 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1036874-1037414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1038871-1039460 Neighboring gene uncharacterized LOC124901570 Neighboring gene microRNA 339

    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 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. CYP2W1 is highly expressed in adrenal glands and is positively associated with the response to mitotane in adrenocortical carcinoma. Ronchi CL, et al. PLoS One, 2014. PMID 25144458, Free PMC Article
    2. Genetic polymorphisms and haplotype structures of the human CYP2W1 gene in a Japanese population. Hanzawa Y, et al. Drug Metab Dispos, 2008 Feb. PMID 17998294
    3. CYP2W1 variant alleles in Caucasians and association of the CYP2W1 G541A (Ala181Thr) polymorphism with increased colorectal cancer risk. Gervasini G, et al. Pharmacogenomics, 2010 Jul. PMID 20602611
    4. Expression of CYP2W1 in colon tumors: regulation by gene methylation. Gomez A, et al. Pharmacogenomics, 2007 Oct. PMID 17979506
    5. Enzymatic properties of human CYP2W1 expressed in Escherichia coli. Yoshioka H, et al. Biochem Biophys Res Commun, 2006 Jun 23. PMID 16677611

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CYP2S1 and CYP2W1 expression is associated with patient survival in breast cancer.
      Title: CYP2S1 and CYP2W1 expression is associated with patient survival in breast cancer.
    2. showed that the genetic pattern of CYP2W1 is interethnically different among the three Chinese populations, and this finding can extend our understanding of population genetics of CYP2W1 in the Chinese population
      Title: Identification of Genetic Polymorphisms of CYP2W1 in the Three Main Chinese Ethnicities: Han, Tibetan, and Uighur.
    3. summarizes the history, distribution, polymorphism, membrane topology, function and possible role in cancer therapy of CYP2W1.
      Title: The CYP2W1 enzyme: regulation, properties and activation of prodrugs.
    4. Normal adrenal tissue lacks CYP2W1 enzyme expression; adrenocortical carcinomas generally do not express the enzyme as well.
      Title: Human Cytochrome P450 2W1 Is Not Expressed in Adrenal Cortex and Is Only Rarely Expressed in Adrenocortical Carcinomas.
    5. Report novel SNPs of CYP2W1 gene in Chinese Uygur and Han populations.
      Title: Novel single nucleotide polymorphisms (SNPs) of CYP2W1 gene in Chinese Uygur and Han populations.
    6. Data suggest that canonical cytochrome P-450 reductants (cytochrome P450 reductase; cytochrome b5) cannot serve as electron donors for CYP2W1, a colon tumor-specific enzyme; glycosylation of CYP2W1 at Asn177 is required for full catalytic activity.
      Title: Membrane topology and search for potential redox partners of colon cancer-specific cytochrome P450 2W1.
    7. Results show the developmental expression of CYP2W1 in the GI tract mediated by epigenetic modifications, its specific location, and regulation by anticancer drugs which can be considered as an adjuvant therapy of colon and hepatic cancers.
      Title: Developmental regulation and induction of cytochrome P450 2W1, an enzyme expressed in colon tumors.
    8. Low KRT13 mRNA expression is associated with oral squamous cell carcinoma.
      Title: KRT13, FAIM2 and CYP2W1 mRNA expression in oral squamous cell carcinoma patients with risk habits.
    9. CYP2W1 is highly expressed in both normal and neoplastic adrenal glands making it a promising tool for targeted therapy in ACC
      Title: CYP2W1 is highly expressed in adrenal glands and is positively associated with the response to mitotane in adrenocortical carcinoma.
    10. High CYP2W1 expression is seen in 26% of primary colorectal tumors and in 48% of corresponding liver metastases.
      Title: The expression of CYP2W1 in colorectal primary tumors, corresponding lymph node metastases and liver metastases.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    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
    A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
    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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    Homology

    Clone Names

    • MGC34287

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables all-trans retinal binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables all-trans-retinol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables monooxygenase activity TAS
    Traceable Author Statement
    more info
    		  
    enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables retinoic acid 4-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables retinoic acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aflatoxin metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cytochrome metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in organic acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phospholipid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retinoic acid catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in xenobiotic metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome P450 2W1
    Names
    CYPIIW1
    cytochrome P450, family 2, subfamily W, polypeptide 1

    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.

    Genomic

    1. NG_007934.1 RefSeqGene

      Range
      4983..11442
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017781.3 → NP_060251.2  cytochrome P450 2W1 precursor

      See identical proteins and their annotated locations for NP_060251.2

      Status: REVIEWED

      Source sequence(s)
      AC073957, BC025761
      Consensus CDS
      CCDS5319.2
      UniProtKB/Swiss-Prot
      Q8TAV3
      Related
      ENSP00000310149.7, ENST00000308919.12
      Conserved Domains (1) summary
      pfam00067
      Location:32 → 479
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      983181..989640
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515441.4 → XP_011513743.1  cytochrome P450 2W1 isoform X2

      Conserved Domains (1) summary
      pfam00067
      Location:32 → 462
      p450; Cytochrome P450

    2. XM_011515440.4 → XP_011513742.1  cytochrome P450 2W1 isoform X1

      Conserved Domains (1) summary
      pfam00067
      Location:32 → 452
      p450; Cytochrome P450

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      1088177..1094636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358534.1 → XP_054214509.1  cytochrome P450 2W1 isoform X1

    2. XM_054358535.1 → XP_054214510.1  cytochrome P450 2W1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TAV3.2 GenPept UniProtKB/Swiss-Prot:Q8TAV3

    Gene LinkOut

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

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