Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | HSD3B2 | contributors: - updated : 30-09-2005 |
HGNC name | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
HGNC id | 5218 |
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Corresponding disease |
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Location | 1p13.1 Physical location : 119.957.553 - 119.965.660 | ||
Synonym symbol(s) | HSDB, HSDB3 | ||
EC.number | 1.1.1.145, 5.3.3.1 |
DNA |
TYPE | functioning gene |
STRUCTURE | 7.00 kb 4 Exon(s) |
Genomic sequence alignment details |
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10 Kb 5' upstream gene genomic sequence study |
regulatory sequence | Promoter (CAAT box) (TATA box) |
MAPPING | cloned | Y | linked | Y | status | confirmed |
Map | pter - AMY@ - D1S239 - D1S457 - D1S502 - D1S250 - D1S252 - HSD3B1 /HSD3B2 HSD3B2 /D1S514 - D1Z5 - cen |
Authors | Morissette (95) |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type |
constitutive of |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
| NAD dependent epimerase/dehydratase domain |
HOMOLOGY |
intraspecies | homolog to HSD3B1 |
Homologene |
FAMILY | 3 beta OH dehydrogenase/isomerase family |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,cytosolic,microsome |
basic FUNCTION |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | HSD3B2 |
related resource | Congenital Adrenal Hyperplasia at GeneDis |
Susceptibility | to hypospadias |
Variant & Polymorphism other | variant associated with hypospadias (rarely) |
Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |