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FLASH GENE

Symbol

AKR1C2

contributors: mct - updated : 16-10-2018

HGNC name	aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)
HGNC id	385

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SRXY8 46XY sex reversal 8
Location	10p15.1      Physical location : 5.031.965 - 5.060.207
Synonym name	bile acid binding protein
	dihydrodiol dehydrogenase 2
	pseudo-chlordecone reductase
	type II dihydrodiol dehydrogenase
Synonym symbol(s)	DDH2, HAKRD, DD2, BABP, MCDR2, AKR1C-pseudo, DD, DD-2, DD/BABP, HBAB, SRXY8, TDD
EC.number	1.3.1.20/1.1.1.357

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	30.26 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_205845 10 - 3521 NP_995317 - 323 - 2018 29369461 NM_001354 11 - 3621 NP_001345 - 323 - 2018 29369461 NM_001321027 8 - 3309 NP_001307956 - 297 - 2018 29369461 NM_001135241 4 - 1098 NP_001128713 - 139 - 2018 29369461

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Nervous brain       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

aldoketo-reductase family

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	aldo-ketoreductas (3-alpha hydroxysteroid dehydrogenase, type III), catalyzing the detoxification of polycyclic aromatic hydrocarbons
	AKR1C1, AKR1C2 subfamily genes are stress-inducible and might function as survival factors in keratinocytes
	AKR1C1, AKR1C2 and AKR1C3 may enhance progesterone metabolism in ovarian endometriosis
	AKR1C2, AKR1C4, are involved in the metabolism of steroids and other carbonyl compounds including drugs

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text

bile acid

PATHWAY

metabolism

drug , lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	cytosolic enzyme that has an important role in the deactivation of the potent androgen dihydrotestosterone (DHT)
	a major proinflammatory cytokine, IL1B, can facilitate local progesterone metabolism in a cell type critical for maintaining uterine cervical structure via regulating expression of AKR1C1 and AKR1C2
	interplay between glucocorticoids and AKR1C2-dependent androgen inactivation may locally modulate adipogenesis and lipid accumulation in a depot-specific manner
	AKR1C2 (positive factor) and NF1 (negative factor), are the MTDH downstream players in the process of metastasis in liver cancer

cell & other

REGULATION

inhibited by

long-chain fatty acids that inhibit AKR1C1, AKR1C2, AKR1C4

ASSOCIATED DISORDERS

corresponding disease(s)

SRXY8

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   is associated with disease progression in prostatic cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	AKR1C2 could be a tumor marker for urinary bladder cancer (UBC)
Therapy target

ANIMAL & CELL MODELS