ENSG00000143811


Homo sapiens

Features
Gene ID: ENSG00000143811
  
Biological name :PYCR2
  
Synonyms : PYCR2 / pyrroline-5-carboxylate reductase 2 / Q96C36
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q42.12
Gene start: 225919877
Gene end: 225924340
  
Corresponding Affymetrix probe sets: 224855_at (Human Genome U133 Plus 2.0 Array)   231715_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000342502
Ensembl peptide - ENSP00000482845
Ensembl peptide - ENSP00000482614
Ensembl peptide - ENSP00000480779
Ensembl peptide - ENSP00000478165
NCBI entrez gene - 29920     See in Manteia.
OMIM - 616406
RefSeq - NM_001271681
RefSeq - NM_013328
RefSeq Peptide - NP_001258610
RefSeq Peptide - NP_037460
swissprot - A0A0S2Z5U6
swissprot - Q96C36
swissprot - A0A087WZR9
swissprot - A0A087WZF0
swissprot - A0A087WX69
swissprot - A0A087WTV6
Ensembl - ENSG00000143811
  
Related genetic diseases (OMIM): 616420 - Leukodystrophy, hypomyelinating, 10, 616420
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pycr1aENSDARG00000102254Danio rerio
 pycr1bENSDARG00000098639Danio rerio
 PYCR1ENSGALG00000007300Gallus gallus
 Pycr2ENSMUSG00000026520Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PYCR1 / P32322 / pyrroline-5-carboxylate reductase 1ENSG0000018301084
AL117348.2ENSG0000025583561
PYCR3 / Q53H96 / pyrroline-5-carboxylate reductase 3ENSG0000010452437


Protein motifs (from Interpro)
Interpro ID Name
 IPR000304  Pyrroline-5-carboxylate reductase
 IPR008927  6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily
 IPR028939  Pyrroline-5-carboxylate reductase, catalytic, N-terminal
 IPR029036  Pyrroline-5-carboxylate reductase, dimerisation domain
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006561 proline biosynthetic process IEA
 biological_processGO:0008652 cellular amino acid biosynthetic process IEA
 biological_processGO:0034599 cellular response to oxidative stress IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0055129 L-proline biosynthetic process IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 molecular_functionGO:0004735 pyrroline-5-carboxylate reductase activity IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA


Pathways (from Reactome)
Pathway description
Amino acid synthesis and interconversion (transamination)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000076 Vesicoureteral reflux "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators]
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 HP:0000122 Unilateral renal agenesis 
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 HP:0000219 Thin upper lip 
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000253 Microcephaly, progressive "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:curators]
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 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
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 HP:0000319 Flat philtrum 
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 HP:0000325 Triangular facies 
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 HP:0000340 Sloping forehead "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators]
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 HP:0000341 Narrow forehead "An abnormally reduced side-to-side width of the forehead." [HPO:curators]
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 HP:0000343 Long philtrum 
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 HP:0000365 Hearing loss 
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000414 Bulbous nose 
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 HP:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000582 Upslanting palpebral fissures 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0001166 Arachnodactyly "Abnormally long and slender fingers ("spider fingers")." [HPO:curators]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001274 Agenesis of corpus callosum "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators]
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 HP:0001302 Pachygyria "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators]
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 HP:0001344 Absent speech development 
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0002119 Ventriculomegaly 
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 HP:0002120 Cerebral cortical atrophy 
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 HP:0002282 Heterotopia 
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 HP:0002415 Leukodystrophy 
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 HP:0002540 Inability to walk 
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 HP:0003103 Abnormality of cortical bone "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [HPO:curators]
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 HP:0003196 Nasal hypoplasia "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson]
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003429 Hypomyelination 
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 HP:0003487 Babinski sign "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
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 HP:0003676 Progressive disorder 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0007333 Hypoplastic frontal lobes "Underdevelopment of the frontal lobe of the cerebrum." [HPO:sdoelken]
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 HP:0008936 Muscular hypotonia of the trunk "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators]
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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 HP:0012471 Thick vermilion border "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000143811 PYCR2 / Q96C36 / pyrroline-5-carboxylate reductase 2  / complex






 

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