P3h2 MGI Mouse Gene Detail - MGI:2146663

Symbol

P3h2
Name

prolyl 3-hydroxylase 2
Synonyms

Leprel1

Feature Type

protein coding gene
IDs

MGI:2146663
NCBI Gene: 210530
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr16:25778038-25924534 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 17.63 cM
Mapping Data

1 experiment

SNPs within 2kb

5176 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2146663	protein coding gene	Chr16:25778034-25924563 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0022692	protein coding gene	Chr16:23672352-23824399 (-)
A/J	MGP_AJ_G0022654	protein coding gene	Chr16:22560679-22705145 (-)
AKR/J	MGP_AKRJ_G0022628	protein coding gene	Chr16:23484290-23634205 (-)
BALB/cJ	MGP_BALBcJ_G0022659	protein coding gene	Chr16:22767294-22917263 (-)
C3H/HeJ	MGP_C3HHeJ_G0022423	protein coding gene	Chr16:23580825-23732314 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0023108	protein coding gene	Chr16:24209576-24364921 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020626	protein coding gene	Chr16:23152536-23296886 (-)
CAST/EiJ	MGP_CASTEiJ_G0021952	protein coding gene	Chr16:23634074-23793401 (-)
CBA/J	MGP_CBAJ_G0022394	protein coding gene	Chr16:25204849-25382986 (-)
DBA/2J	MGP_DBA2J_G0022526	protein coding gene	Chr16:22506739-22656033 (-)
FVB/NJ	MGP_FVBNJ_G0022502	protein coding gene	Chr16:22489070-22634421 (-)
LP/J	MGP_LPJ_G0022594	protein coding gene	Chr16:23451765-23611268 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022521	protein coding gene	Chr16:24645704-24804825 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023120	protein coding gene	Chr16:23431697-23586263 (-)
PWK/PhJ	MGP_PWKPhJ_G0021691	protein coding gene	Chr16:22800058-22948625 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0021522	protein coding gene	Chr16:23198786-23357670 (-)
WSB/EiJ	MGP_WSBEiJ_G0021996	protein coding gene	Chr16:23391632-23541467 (-)

Human Ortholog

P3H2, prolyl 3-hydroxylase 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

P3H2, prolyl 3-hydroxylase 2
Synonyms

LEPREL1, MCVD, MLAT4
Links

HGNC:19317

NCBI Gene ID: 55214

neXtProt AC: NX_Q8IVL5

UniProt: Q8IVL5
Chr Location

3q28; chr3:189956728-190122437 (-) GRCh38

MGI Vertebrate Homology

P3h2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: P3H2
Gene Tree

P3h2

less

Phenotype Summary

9 phenotypes from 3 alleles in 3 genetic backgrounds
2 phenotypes from multigenic genotypes
2 images
10 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Endonuclease-mediated

5
Targeted

5
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

35 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele of exon 2 exhibit embryonic lethality between E8.5 and E12.5 with maternal platelets aggregate around the ectoplacental cone. Exon 3 knockouts are viable but mice exhibit reduced hydroxylation of collagen chains, especially in the sclera, leading to eye tissue dysmorphology and progressive myopia.

less

All GO Annotations

28
GO References

9

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

873
Tissues

94
cDNA Data

8
Literature Summary

7

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA P3H2

Xenbase p3h2

less

All Sequences

35
RefSeq

2
UniProt

1
CCDS

CCDS28086.1

Ensembl

ENSMUSG00000038168 (Evidence)
NCBI Gene

210530

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038168	Ensembl Gene Model \| MGI Sequence Detail	146497	C57BL/6J	± kb
transcript	ENSMUST00000039990	Ensembl \| MGI Sequence Detail	3283	Not Applicable
polypeptide	ENSMUSP00000038056	Ensembl \| MGI Sequence Detail	703	Not Applicable

less

UniProt

1 Sequence
Protein Ontology

PR:000009760 prolyl 3-hydroxylase 2

(term hierarchy)
EC

1.14.11.7
InterPro Domains

IPR005123 Oxoglutarate/iron-dependent dioxygenase

IPR039575 Prolyl 3-hydroxylase

IPR006620 Prolyl 4-hydroxylase, alpha subunit

IPR044862 Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain

IPR011990 Tetratricopeptide-like helical domain superfamily
GlyGen

Q8CG71 2 sites

less

All nucleic 9

cDNA 8

Primer pair 1

Microarray probesets 3

Summaries

All 42

Developmental Gene Expression 7

Gene Ontology 9

Phenotypes 10
Earliest

J:138660 Tiainen P, et al., Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV. J Biol Chem. 2008 Jul 11;283(28):19432-9
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for P3h2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr140627	Chr16:25924944-25924952 (-)	-414 bp
Tssr140626	Chr16:25924527-25924605 (-)	-32 bp
Tssr140625	Chr16:25924384-25924404 (-)	140 bp
Tssr140624	Chr16:25918496-25918499 (-)	6,036 bp
Tssr140617	Chr16:25883499-25883505 (-)	41,032 bp
Tssr140616	Chr16:25784503-25784515 (-)	140,025 bp
Tssr140615	Chr16:25779142-25779153 (-)	145,386 bp
Tssr140614	Chr16:25778997-25779008 (-)	145,531 bp
Tssr140613	Chr16:25778780-25778803 (-)	145,742 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24