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

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
See related: AllianceGenome: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]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression: Broad expression in liver (RPKM 9.7), small intestine (RPKM 3.1) and 14 other tissues See more
Orthologs: all
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Genomic context

Location:: 22q13.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (42139576..42144483, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (42619075..42623972, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (42535587..42540484, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association Between CYP2D7 and TCF20 Polymorphisms and Coronary Heart Disease.
Title: Association Between CYP2D7 and TCF20 Polymorphisms and Coronary Heart Disease.
The loss of the stop codon in CYP2D7 does not result in the generation of enzymatically active protein in human liver.
Title: Functional characterization of CYP2D7 gene variants.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Frequency of the frame-shifting CYP2D7 138delT polymorphism in a large, ethnically diverse sample population.
Observational study of gene-disease association. (HuGE Navigator)
Title: Polymorphism of metabolic genes and susceptibility to occupational chronic manganism.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

STS-M33189 (e-PCR)
- UniSTS:10271

RH27796 (e-PCR)
- UniSTS:87699

NoName (e-PCR)
- UniSTS:482281

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables aromatase activity	IDA Inferred from Direct Assay more info	PubMed
enables aromatase activity	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 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

Process	Evidence Code	Pubs
involved_in arachidonate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
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
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
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

NM_001348386.3 → NP_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, Q6XP50

Conserved Domains (1) summary

pfam00067
Location:58 → 512

p450; Cytochrome P450

RNA

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
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: 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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

42139576..42144483 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_009646207.1 Reference GRCh38.p14 PATCHES

Range

42386..47285 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_009646208.1 Reference GRCh38.p14 PATCHES

Range

38858..43756 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_014040930.1 Reference GRCh38.p14 PATCHES

Range

32143..37048 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_014040931.1 Reference GRCh38.p14 PATCHES

Range

60584..65491 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_015148968.1 Reference GRCh38.p14 PATCHES

Range

30982..35880 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NW_003315971.2 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

49769..54676 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

NT_187682.1 Reference GRCh38.p14 ALT_REF_LOCI_3

Range

61926..66823 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

42619075..42623972 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NG_002362.1: Suppressed sequence

Description

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

Description

NM_001002910.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.