ENSG00000277893


Homo sapiens

Features
Gene ID: ENSG00000277893
  
Biological name :SRD5A2
  
Synonyms : P31213 / SRD5A2 / steroid 5 alpha-reductase 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p23.1
Gene start: 31522480
Gene end: 31581067
  
Corresponding Affymetrix probe sets: 206938_at (Human Genome U133 Plus 2.0 Array)   235945_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000477587
NCBI entrez gene - 6716     See in Manteia.
OMIM - 607306
RefSeq - XM_011533072
RefSeq - NM_000348
RefSeq - XM_011533069
RefSeq Peptide - NP_000339
swissprot - P31213
Ensembl - ENSG00000277893
  
Related genetic diseases (OMIM): 264600 - Pseudovaginal perineoscrotal hypospadias, 264600
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
 srd5a2aENSDARG00000043587Danio rerio
 srd5a2bENSDARG00000039067Danio rerio
 SRD5A2ENSGALG00000010625Gallus gallus
 Q99N99ENSMUSG00000038541Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P18405 / SRD5A1 / steroid 5 alpha-reductase 1ENSG0000014554548


Protein motifs (from Interpro)
Interpro ID Name
 IPR001104  3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal
 IPR016636  3-oxo-5-alpha-steroid 4-dehydrogenase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006694 steroid biosynthetic process IEA
 biological_processGO:0006702 androgen biosynthetic process IEA
 biological_processGO:0006706 steroid catabolic process IEA
 biological_processGO:0007267 cell-cell signaling TAS
 biological_processGO:0007548 sex differentiation IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008209 androgen metabolic process IEA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0018879 biphenyl metabolic process IEA
 biological_processGO:0018894 dibenzo-p-dioxin metabolic process IEA
 biological_processGO:0018963 phthalate metabolic process IEA
 biological_processGO:0021766 hippocampus development IEA
 biological_processGO:0021854 hypothalamus development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030539 male genitalia development IEA
 biological_processGO:0030540 female genitalia development IEA
 biological_processGO:0031667 response to nutrient levels IEA
 biological_processGO:0032354 response to follicle-stimulating hormone IEA
 biological_processGO:0033574 response to testosterone IEA
 biological_processGO:0042448 progesterone metabolic process IBA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0043434 response to peptide hormone IEA
 biological_processGO:0048545 response to steroid hormone IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060348 bone development IEA
 biological_processGO:0061370 testosterone biosynthetic process IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031090 organelle membrane IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0070852 cell body fiber IEA
 molecular_functionGO:0003865 3-oxo-5-alpha-steroid 4-dehydrogenase activity IBA
 molecular_functionGO:0009917 sterol 5-alpha reductase activity IDA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA
 molecular_functionGO:0030283 testosterone dehydrogenase [NAD(P)] activity IDA
 molecular_functionGO:0033218 amide binding IEA
 molecular_functionGO:0047751 cholestenone 5-alpha-reductase activity IEA


Pathways (from Reactome)
Pathway description
Androgen biosynthesis


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]
Show

 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
Show

 HP:0000033 Ambiguous genitalia, male 
Show

 HP:0000046 Scrotal hypoplasia 
Show

 HP:0000048 Bifid scrotum "Separation of the two halves of the scrotum, whereby commonly the 2 halves of the scrotum meet above the penis." [HPO:curators]
Show

 HP:0000051 Perineal hypospadias 
Show

 HP:0000054 Micropenis 
Show

 HP:0000144 Decreased fertility 
Show

 HP:0000818 Endocrine abnormality 
Show

 HP:0001595 Hair abnormality 
Show

 HP:0001608 Abnormality of the voice "Any abnormality of the voice." [HPO:curators]
Show

 HP:0001939 Metabolism abnormality 
Show

 HP:0003812 Phenotypic variability 
Show

 HP:0008736 Hypoplasia of penis 
Show

 HP:0100779 Urogenital sinus anomaly "A rare birth defect in women where the urethra and vagina both open into a common channel." [HPO:curators]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr