MOXD2P monooxygenase DBH like 2, pseudogene [Homo sapiens (human)] - Gene

Summary

Official Symbol: MOXD2Pprovided by HGNC
Official Full Name: monooxygenase DBH like 2, pseudogeneprovided by HGNC
Primary source: HGNC:HGNC:33605
See related: Ensembl:ENSG00000240268 AllianceGenome:HGNC:33605
Gene type: pseudo
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MOXD2
Summary: Predicted to enable copper ion binding activity and dopamine beta-monooxygenase activity. Predicted to be involved in dopamine catabolic process; norepinephrine biosynthetic process; and octopamine biosynthetic process. Predicted to be active in extracellular space and secretory granule membrane. [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

Location:: 7q34

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (142240737..142247067, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (143555786..143562117, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (141940556..141946886, complement)

Chromosome 7 - NC_000007.14 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 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?

it is proposed that modification or inactivation of MOXD2 and S100A15A genes have contributed to the loss of certain smell sense in humans and to the development of human skin
Title: Inactivation of MOXD2 and S100A15A by exon deletion during human evolution.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Other Names

DBH-like monooxygenase protein 2
dopamine-beta-hydroxylase-like pseudogene

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables copper ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables dopamine beta-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in dopamine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in norepinephrine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in octopamine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in secretory granule membrane	IBA Inferred from Biological aspect of Ancestor more info

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.