P3h2 prolyl 3-hydroxylase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: P3h2provided by MGI
Official Full Name: prolyl 3-hydroxylase 2provided by MGI
Primary source: MGI:MGI:2146663
See related: Ensembl:ENSMUSG00000038168 AllianceGenome:MGI:2146663
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mlat4; Leprel1; 4832416N06
Summary: Predicted to enable procollagen-proline 3-dioxygenase activity. Predicted to be involved in collagen metabolic process; negative regulation of cell population proliferation; and peptidyl-proline hydroxylation. Located in basement membrane. Is expressed in several structures, including central nervous system; limb bud; musculoskeletal system; renal cortex; and sensory organ. Orthologous to human P3H2 (prolyl 3-hydroxylase 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in kidney adult (RPKM 21.3), ovary adult (RPKM 6.6) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 B1; 16 17.63 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (25778034..25924563, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (25959284..26105813, complement)

Chromosome 16 - NC_000082.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis.
Title: Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis.
Altered collagen prolyl 3-hydroxylation is caused by loss of P3H2.
Title: Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations.
prolyl 3-hydroxylation of type IV collagen by P3H2 has an important function preventing maternal platelet aggregation in response to the early developing embryo
Title: Biological role of prolyl 3-hydroxylation in type IV collagen.
This report characterizes expression of the P3H1, P3H2 and P3H3 genes in embryonic and adult mice.
Title: Expression of prolyl 3-hydroxylase genes in embryonic and adult mouse tissues.
Study found that all 3 mouse Leprecan genes Lepre1, leprel1 and leprel2 are expressed in the notochord; additionally, they are expressed in dorsal root ganglia, limb buds, branchial arches, and developing kidneys.
Title: Conservation of notochord gene expression across chordates: insights from the Leprecan gene family.
P3H2 is responsible for the hydroxylation of collagen IV, which has the highest 3-hydroxyproline content of all collagens. It is thus possible that P3H2 mutations may lead to a disease with changes in basement membranes.
Title: Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU015336 (e-PCR)
- UniSTS:209195

NoName (e-PCR)
- UniSTS:237476

Leprel1 (e-PCR), detects polymorphism
- UniSTS:528047

Leprel2 (e-PCR), detects polymorphism
- UniSTS:528049

AW553532 (e-PCR)
- UniSTS:186068

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables L-ascorbic acid binding	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables procollagen-proline 3-dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables procollagen-proline 3-dioxygenase activity	ISO Inferred from Sequence Orthology more info
enables procollagen-proline 3-dioxygenase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in collagen metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in collagen metabolic process	ISO Inferred from Sequence Orthology more info
involved_in collagen metabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in peptidyl-proline hydroxylation	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-proline hydroxylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: prolyl 3-hydroxylase 2

Names: leprecan-like protein 1; myxoid liposarcoma associated protein 4

NP_775555.1

EC 1.14.11.7

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_173379.3 → NP_775555.1 prolyl 3-hydroxylase 2 precursor

See identical proteins and their annotated locations for NP_775555.1

Status: VALIDATED

Source sequence(s)

AC109213, AC154344

Consensus CDS

CCDS28086.1

UniProtKB/Swiss-Prot

Q8C673, Q8CG71

Related

ENSMUSP00000038056.6, ENSMUST00000039990.6

Conserved Domains (3) summary

smart00702
Location:467 → 665

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

cl19878
Location:26 → 144

DUF2207; Predicted membrane protein (DUF2207)

cl21750
Location:306 → 339

Fis1; Mitochondrial Fission Protein Fis1, cytosolic domain