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CYP2D7 cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene) [ Homo sapiens (human) ]

Gene ID: 1564, updated on 5-Jan-2022

Summary

Official Symbol
CYP2D7provided by HGNC
Official Full Name
cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene)provided by HGNC
Primary source
HGNC:HGNC:2624
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CYP2D; CYP2D6; CYP2D@; CYP2D7P; P450C2D; P450DB1; CYP2D7AP; CYP2D7P1; RNA40057
Summary
This gene is a member of the cytochrome P450 gene superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is a segregating pseudogene, where some individuals may have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. In this case, the functional allele is thought to be rare. This locus is part of a cluster of cytochrome P450 genes on chromosome 22. [provided by RefSeq, Jan 2017]
Expression
Broad expression in liver (RPKM 9.7), small intestine (RPKM 3.1) and 14 other tissues See more
Orthologs
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Genomic context

See CYP2D7 in Genome Data Viewer
Location:
22q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (42139576..42144483, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42535587..42540484, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268294 Neighboring gene CYP2D6 promoter Neighboring gene uncharacterized LOC102723722 Neighboring gene uncharacterized LOC105377203 Neighboring gene ccytochrome P450 family 2 subfamily D member 8, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in arachidonic acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in organic acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT involved_in xenobiotic catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in xenobiotic catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in xenobiotic metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT involved_in xenobiotic metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in xenobiotic metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
putative cytochrome P450 2D7
Names
Putative cytochrome P450 2D7
cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1
cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 1
cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing) cluster
cytochrome P4502D6
nonfunctional cytochrome P450 family 2 subfamily D polypeptide 6

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_001348386.3NP_001335315.1  putative cytochrome P450 2D7

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site resulting in a longer transcript compared to variant 1. This variant represents the allele which encodes the full-length protein but whether this protein has enzymatic activity is disputed.
    Source sequence(s)
    AC254562, AY220845, BC108679, X16866
    UniProtKB/Swiss-Prot
    A0A087X1C5
    Conserved Domains (1) summary
    pfam00067
    Location:58512
    p450; Cytochrome P450

RNA

  1. NR_002570.6 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC254562, BC108679, X16866
  2. NR_145674.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2, noncoding) uses an alternate splice site resulting in a longer transcript compared to variant 1. This noncoding variant represents the reference genome allele, which does not encode a full-length protein and is predicted to be non-functional.
    Source sequence(s)
    AC254562, X16866

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    42139576..42144483 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_009646207.1 Reference GRCh38.p13 PATCHES

    Range
    42386..47285 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_009646208.1 Reference GRCh38.p13 PATCHES

    Range
    38858..43756 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_014040930.1 Reference GRCh38.p13 PATCHES

    Range
    32143..37048 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_014040931.1 Reference GRCh38.p13 PATCHES

    Range
    60584..65491 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_015148968.1 Reference GRCh38.p13 PATCHES

    Range
    30982..35880 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315971.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    49769..54676 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_187682.1 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    61926..66823 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_002362.1: Suppressed sequence

    Description
    NG_002362.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
  2. NM_001002910.1: Suppressed sequence

    Description
    NM_001002910.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
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