Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	29920
Gene name Gene Name - the full gene name approved by the HGNC.	Pyrroline-5-carboxylate reductase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PYCR2
Synonyms (NCBI Gene) Gene synonyms aliases	HLD10, P5CR2
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q42.12
Summary Summary of gene provided in NCBI Entrez Gene.	This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants

Show/Hide all(5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs876657403	G>A	Pathogenic	Missense variant, coding sequence variant
rs886037931	G>A	Pathogenic	Coding sequence variant, stop gained
rs886037932	A>G	Pathogenic	Coding sequence variant, missense variant
rs886037933	A>C	Pathogenic	Coding sequence variant, missense variant
rs886043378	AG>-,AGAG	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(109)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028646	hsa-miR-30a-5p	Proteomics	18668040
MIRT040656	hsa-miR-92b-3p	CLASH	23622248
MIRT1279312	hsa-miR-3130-5p	CLIP-seq
MIRT1279313	hsa-miR-4424	CLIP-seq
MIRT1279314	hsa-miR-4482	CLIP-seq
MIRT1279315	hsa-miR-451b	CLIP-seq
MIRT1279316	hsa-miR-4694-3p	CLIP-seq
MIRT1279317	hsa-miR-486-5p	CLIP-seq
MIRT1279318	hsa-miR-500a	CLIP-seq
MIRT1279319	hsa-miR-522	CLIP-seq
MIRT1279320	hsa-miR-758	CLIP-seq
MIRT2082315	hsa-miR-1178	CLIP-seq
MIRT2082316	hsa-miR-1207-3p	CLIP-seq
MIRT2082317	hsa-miR-1231	CLIP-seq
MIRT2082318	hsa-miR-1273e	CLIP-seq
MIRT2082319	hsa-miR-141	CLIP-seq
MIRT2082320	hsa-miR-149	CLIP-seq
MIRT2082321	hsa-miR-200a	CLIP-seq
MIRT2082322	hsa-miR-2115	CLIP-seq
MIRT2082323	hsa-miR-296-3p	CLIP-seq
MIRT2082324	hsa-miR-3064-5p	CLIP-seq
MIRT2082325	hsa-miR-3124-3p	CLIP-seq
MIRT2082326	hsa-miR-3125	CLIP-seq
MIRT2082327	hsa-miR-3127-3p	CLIP-seq
MIRT1279312	hsa-miR-3130-5p	CLIP-seq
MIRT2082328	hsa-miR-3150b-3p	CLIP-seq
MIRT2082329	hsa-miR-3160-5p	CLIP-seq
MIRT2082330	hsa-miR-3184	CLIP-seq
MIRT2082331	hsa-miR-338-3p	CLIP-seq
MIRT2082332	hsa-miR-382	CLIP-seq
MIRT2082333	hsa-miR-3916	CLIP-seq
MIRT2082334	hsa-miR-3925-3p	CLIP-seq
MIRT2082335	hsa-miR-3944-3p	CLIP-seq
MIRT2082336	hsa-miR-423-5p	CLIP-seq
MIRT2082337	hsa-miR-4279	CLIP-seq
MIRT2082338	hsa-miR-4300	CLIP-seq
MIRT1279313	hsa-miR-4424	CLIP-seq
MIRT2082339	hsa-miR-4457	CLIP-seq
MIRT1279314	hsa-miR-4482	CLIP-seq
MIRT1279315	hsa-miR-451b	CLIP-seq
MIRT2082340	hsa-miR-4530	CLIP-seq
MIRT2082341	hsa-miR-4688	CLIP-seq
MIRT2082342	hsa-miR-4689	CLIP-seq
MIRT1279316	hsa-miR-4694-3p	CLIP-seq
MIRT2082343	hsa-miR-4711-3p	CLIP-seq
MIRT2082344	hsa-miR-4779	CLIP-seq
MIRT2082345	hsa-miR-4781-5p	CLIP-seq
MIRT2082346	hsa-miR-4784	CLIP-seq
MIRT2082347	hsa-miR-4794	CLIP-seq
MIRT2082348	hsa-miR-502-5p	CLIP-seq
MIRT2082349	hsa-miR-508-5p	CLIP-seq
MIRT2082350	hsa-miR-513b	CLIP-seq
MIRT1279319	hsa-miR-522	CLIP-seq
MIRT2082351	hsa-miR-541	CLIP-seq
MIRT2082352	hsa-miR-592	CLIP-seq
MIRT2082353	hsa-miR-599	CLIP-seq
MIRT2082354	hsa-miR-654-5p	CLIP-seq
MIRT2082355	hsa-miR-744	CLIP-seq
MIRT2082356	hsa-miR-891b	CLIP-seq
MIRT2082357	hsa-miR-920	CLIP-seq
MIRT2082318	hsa-miR-1273e	CLIP-seq
MIRT2307954	hsa-miR-1302	CLIP-seq
MIRT2082326	hsa-miR-3125	CLIP-seq
MIRT1279312	hsa-miR-3130-5p	CLIP-seq
MIRT2307955	hsa-miR-3173-3p	CLIP-seq
MIRT2082333	hsa-miR-3916	CLIP-seq
MIRT2307956	hsa-miR-4298	CLIP-seq
MIRT2307957	hsa-miR-4428	CLIP-seq
MIRT2307958	hsa-miR-4477b	CLIP-seq
MIRT1279314	hsa-miR-4482	CLIP-seq
MIRT2307959	hsa-miR-4527	CLIP-seq
MIRT2307960	hsa-miR-4539	CLIP-seq
MIRT2307961	hsa-miR-4768-3p	CLIP-seq
MIRT1279317	hsa-miR-486-5p	CLIP-seq
MIRT1279318	hsa-miR-500a	CLIP-seq
MIRT1279312	hsa-miR-3130-5p	CLIP-seq
MIRT1279314	hsa-miR-4482	CLIP-seq
MIRT1279317	hsa-miR-486-5p	CLIP-seq
MIRT1279318	hsa-miR-500a	CLIP-seq
MIRT2082317	hsa-miR-1231	CLIP-seq
MIRT2082320	hsa-miR-149	CLIP-seq
MIRT2082322	hsa-miR-2115	CLIP-seq
MIRT2082323	hsa-miR-296-3p	CLIP-seq
MIRT2082324	hsa-miR-3064-5p	CLIP-seq
MIRT2082331	hsa-miR-338-3p	CLIP-seq
MIRT2082334	hsa-miR-3925-3p	CLIP-seq
MIRT2605203	hsa-miR-4323	CLIP-seq
MIRT2605204	hsa-miR-4468	CLIP-seq
MIRT2082340	hsa-miR-4530	CLIP-seq
MIRT2082343	hsa-miR-4711-3p	CLIP-seq
MIRT2082347	hsa-miR-4794	CLIP-seq
MIRT2605205	hsa-miR-503	CLIP-seq
MIRT2082349	hsa-miR-508-5p	CLIP-seq
MIRT2082352	hsa-miR-592	CLIP-seq
MIRT2082353	hsa-miR-599	CLIP-seq
MIRT2082317	hsa-miR-1231	CLIP-seq
MIRT2082320	hsa-miR-149	CLIP-seq
MIRT2082322	hsa-miR-2115	CLIP-seq
MIRT2082323	hsa-miR-296-3p	CLIP-seq
MIRT2082324	hsa-miR-3064-5p	CLIP-seq
MIRT2082334	hsa-miR-3925-3p	CLIP-seq
MIRT2605203	hsa-miR-4323	CLIP-seq
MIRT2605204	hsa-miR-4468	CLIP-seq
MIRT2082343	hsa-miR-4711-3p	CLIP-seq
MIRT2082347	hsa-miR-4794	CLIP-seq
MIRT2605205	hsa-miR-503	CLIP-seq
MIRT2082349	hsa-miR-508-5p	CLIP-seq
MIRT2082352	hsa-miR-592	CLIP-seq
MIRT2082353	hsa-miR-599	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004735	Function	Pyrroline-5-carboxylate reductase activity	IBA
GO:0004735	Function	Pyrroline-5-carboxylate reductase activity	IDA	23024808
GO:0004735	Function	Pyrroline-5-carboxylate reductase activity	IEA
GO:0005515	Function	Protein binding	IPI	24930674
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	23024808, 25865492
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005829	Component	Cytosol	TAS
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034599	Process	Cellular response to oxidative stress	IMP	25865492
GO:0055129	Process	L-proline biosynthetic process	IBA
GO:0055129	Process	L-proline biosynthetic process	IDA	23024808
GO:0055129	Process	L-proline biosynthetic process	IEA

MIM	HGNC	e!Ensembl
616406	30262	ENSG00000143811

Protein

UniProt ID

Q96C36

Protein name

Pyrroline-5-carboxylate reductase 2 (P5C reductase 2) (P5CR 2) (EC 1.5.1.2)

Protein function

Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:23024808, PubMed:2722838, PubMed:6894153). At physiologic concentrations, has h

PDB

6LHM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03807	F420_oxidored	2 → 98	NADP oxidoreductase coenzyme F420-dependent	Family
PF14748	P5CR_dimer	164 → 268	Pyrroline-5-carboxylate reductase dimerisation	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in erythrocytes (at protein level) (PubMed:2722838, PubMed:6894153). Expressed in fetal brain (PubMed:25865492). {ECO:0000269|PubMed:25865492, ECO:0000269|PubMed:2722838, ECO:0000269|PubMed:6894153}.

Sequence

MSVGFIGAGQLAYALARGFTAAGILSAHKIIASSPEMNLPTVSALRKMGVNLTRSNKETV
KHSDVLFLAVKPHIIPFILDEIGADVQARHIVVSCAAGVTISSVEKKLMAFQPAPKVIRC
MTNTPVVVQEGATVYATGTHALVEDGQLLEQLMSSVGFCTEVEEDLIDAVTGLSGSGPAY
AFMALDALADGGVKMGLPRRLAIQLGAQALLGAAKMLLDSEQHPCQLKDNVCSPGGATIH
ALHFLESGGFRSLLINAVEASCIRTRELQSMADQEKISPAALKKTLLDRVKLESPTVSTL
TPSSPGKLLTRSLALGGKKD

Sequence length

320

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids		Glutamate and glutamine metabolism

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hypomyelinating Leukodystrophy	Hypomyelinating leukodystrophy 10	rs1473859981, rs372781135, rs1239964151, rs876657403, rs1671863383, rs886037931, rs1671854827, rs886037932, rs758595075, rs886037933, rs886043378, rs149587849, rs1553500497	N/A
Leukodystrophy	leukodystrophy	rs886037931	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Microcephaly	microcephaly, autosomal recessive primary microcephaly	N/A	N/A	ClinVar, GenCC

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	34512817
Alcohol Related Disorders	Associate	27130255
Breast Neoplasms	Associate	38101533
Carcinogenesis	Stimulate	37508547
Carcinoma Renal Cell	Stimulate	36624948
Colorectal Neoplasms	Associate	34512817, 38101533
Colorectal Neoplasms	Stimulate	37508547
Demyelinating Diseases	Associate	25865492, 33771508
Depression Postpartum	Associate	25865492, 33771508
Failure to Thrive	Associate	27130255
Hyperkinesis	Associate	27130255
Melanoma	Associate	26634742
Microcephaly	Associate	25865492, 27130255, 33771508
Microphthalmia Syndromic 10	Associate	27130255
Mitochondrial Diseases	Associate	27130255
Muscle Hypotonia	Associate	27130255
Muscle Spasticity	Associate	27130255
Neoplasm Metastasis	Stimulate	34512817
Neoplasm Metastasis	Associate	38101533
Neoplasms	Stimulate	36624948
Neoplasms	Associate	37508547, 38065270
Plagiocephaly and X linked mental retardation	Associate	27130255
Psychomotor Disorders	Associate	27130255

PYCR2 (pyrroline-5-carboxylate reductase 2)