P4ha2 MGI Mouse Gene Detail - MGI:894286 - procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha II polypeptide

Symbol

P4ha2
Name

procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha II polypeptide
Synonyms

P4hl

Feature Type

protein coding gene
IDs

MGI:894286
NCBI Gene: 18452
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr11:53991750-54022494 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 32.13 cM, cytoband A5-B1
Mapping Data

6 experiments

SNPs within 2kb

833 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_894286	protein coding gene	Chr11:53990921-54022494 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018311	protein coding gene	Chr11:53565193-53596737 (+)
A/J	MGP_AJ_G0018280	protein coding gene	Chr11:51560427-51595383 (+)
AKR/J	MGP_AKRJ_G0018249	protein coding gene	Chr11:53252553-53285568 (+)
BALB/cJ	MGP_BALBcJ_G0018251	protein coding gene	Chr11:51901393-51936082 (+)
C3H/HeJ	MGP_C3HHeJ_G0018062	protein coding gene	Chr11:53192385-53224550 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018703	protein coding gene	Chr11:55212561-55245999 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016353	protein coding gene	Chr11:49028476-49059655 (+)
CAST/EiJ	MGP_CASTEiJ_G0017627	protein coding gene	Chr11:53239620-53270263 (+)
CBA/J	MGP_CBAJ_G0018037	protein coding gene	Chr11:57832119-57866388 (+)
DBA/2J	MGP_DBA2J_G0018146	protein coding gene	Chr11:51279127-51310733 (+)
FVB/NJ	MGP_FVBNJ_G0018138	protein coding gene	Chr11:50920977-50952494 (+)
LP/J	MGP_LPJ_G0018221	protein coding gene	Chr11:54013488-54044765 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018164	protein coding gene	Chr11:59054895-59087247 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018745	protein coding gene	Chr11:53267041-53304230 (+)
PWK/PhJ	MGP_PWKPhJ_G0017400	protein coding gene	Chr11:51818066-51849215 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017195	protein coding gene	Chr11:53030385-53062913 (+)
WSB/EiJ	MGP_WSBEiJ_G0017675	protein coding gene	Chr11:52901570-52933631 (+)

Human Ortholog

P4HA2, prolyl 4-hydroxylase subunit alpha 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

P4HA2, prolyl 4-hydroxylase subunit alpha 2
Synonyms

lncRNA-PE, MYP25
Links

HGNC:8547

NCBI Gene ID: 8974

neXtProt AC: NX_O15460

UniProt: O15460
Chr Location

5q31.1; chr5:132190147-132295315 (-) GRCh38

MGI Vertebrate Homology

P4ha2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: P4HA2
Gene Tree

P4ha2

Diseases

1 with human P4HA2 associations

				Human Disease	Mouse Models
				myopia IDs myopia DOID:11830 ICD10CM:H52.1 ICD9CM:367.1 MESH:D009216 NCI:C102533 OMIM:160700 OMIM:255500 OMIM:300613 OMIM:310460 OMIM:603221 OMIM:608367 OMIM:608474 OMIM:608908 OMIM:609256 OMIM:609257 OMIM:609258 OMIM:609259 OMIM:609994 OMIM:609995 OMIM:610320 OMIM:612554 OMIM:612717 OMIM:613959 OMIM:613969 OMIM:614166 OMIM:614167 OMIM:615420 OMIM:615431 OMIM:615946 UMLS_CUI:C0027092

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

14 phenotype references

All Mutations and Alleles

10
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

1
Targeted

5
Genomic Mutations

2 involving P4ha2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

26 strains or lines available

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All GO Annotations

14
GO References

6

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.

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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

900
Tissues

115
cDNA Data

70
Literature Summary

5

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase p4ha2

ZFIN p4ha2

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All Sequences

77
RefSeq

6
UniProt

12
CCDS

CCDS24691.1, CCDS48797.1

Ensembl

ENSMUSG00000018906 (Evidence)
NCBI Gene

18452

			Length	Strain/Species	Flank
genomic	18452	NCBI Gene Model \| MGI Sequence Detail	30745	C57BL/6J	± kb
transcript	NM_011031	RefSeq \| MGI Sequence Detail	2284	ZRU/MplStud
polypeptide	Q60716	UniProt \| EBI \| MGI Sequence Detail	537	Not Applicable

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UniProt

12 Sequences
Protein Ontology

PR:000012197 prolyl 4-hydroxylase subunit alpha-2

(term hierarchy)
EC

1.14.11.2
InterPro Domains

IPR005123 Oxoglutarate/iron-dependent dioxygenase

IPR045054 Prolyl 4-hydroxylase

IPR006620 Prolyl 4-hydroxylase, alpha subunit

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

IPR013547 Prolyl 4-hydroxylase alpha-subunit, N-terminal

IPR011990 Tetratricopeptide-like helical domain superfamily

IPR019734 Tetratricopeptide repeat
GlyGen

Q60716 2 sites, 2 N-linked glycans (1 site)

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All nucleic 77

Genomic 3

cDNA 71

Primer pair 2

Other 1

Microarray probesets 3

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MGI:2143965, MGI:2144619

Summaries

All 51

Developmental Gene Expression 5

Gene Ontology 6

Phenotypes 14
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:345143 Zhang J, et al., P4HA2 induces hepatic ductular reaction and biliary fibrosis in chronic cholestatic liver diseases. Hepatology. 2023 Jul 1;78(1):10-25

TSS for P4ha2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr101468	Chr11:53991795-53991851 (+)	73 bp
Tssr101469	Chr11:53991860-53991869 (+)	115 bp
Tssr101470	Chr11:53992054-53992101 (+)	328 bp
Tssr101471	Chr11:53992407-53992416 (+)	662 bp
Tssr101472	Chr11:54015242-54015246 (+)	23,494 bp
Tssr101473	Chr11:54015332-54015346 (+)	23,589 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)
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