AKR1E2 (aldo-keto reductase family 1 member E2)

Gene

• Entrez ID: 83592
• Gene name: Aldo-keto reductase family 1 member E2
• Gene symbol: AKR1E2
• Synonyms (NCBI Gene): AKR1CL2, AKRDC1, HTSP1, LoopADR, TAKR, hTSP, htAKR
• Chromosome: 10
• Chromosome location: 10p15.1
• Summary: The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl group

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018529	hsa-miR-335-5p	Microarray	18185580
MIRT776333	hsa-miR-1275	CLIP-seq
MIRT776334	hsa-miR-1915	CLIP-seq
MIRT776335	hsa-miR-22	CLIP-seq
MIRT776336	hsa-miR-3202	CLIP-seq
MIRT776337	hsa-miR-4269	CLIP-seq
MIRT776338	hsa-miR-4271	CLIP-seq
MIRT776339	hsa-miR-4421	CLIP-seq
MIRT776340	hsa-miR-4522	CLIP-seq
MIRT776341	hsa-miR-4525	CLIP-seq
MIRT776342	hsa-miR-4533	CLIP-seq
MIRT776343	hsa-miR-4645-5p	CLIP-seq
MIRT776344	hsa-miR-4665-5p	CLIP-seq
MIRT776345	hsa-miR-4673	CLIP-seq
MIRT776346	hsa-miR-4723-5p	CLIP-seq
MIRT776347	hsa-miR-4725-3p	CLIP-seq
MIRT776348	hsa-miR-4726-3p	CLIP-seq
MIRT776349	hsa-miR-4747-5p	CLIP-seq
MIRT776350	hsa-miR-625	CLIP-seq
MIRT776351	hsa-miR-637	CLIP-seq
MIRT1929137	hsa-miR-1208	CLIP-seq
MIRT1929138	hsa-miR-323-3p	CLIP-seq
MIRT1929139	hsa-miR-452	CLIP-seq
MIRT1929140	hsa-miR-4676-3p	CLIP-seq
MIRT1929141	hsa-miR-642b	CLIP-seq
MIRT2169805	hsa-miR-1270	CLIP-seq
MIRT2169806	hsa-miR-431	CLIP-seq
MIRT2169807	hsa-miR-432	CLIP-seq
MIRT2169808	hsa-miR-4434	CLIP-seq
MIRT2169809	hsa-miR-4516	CLIP-seq
MIRT2169810	hsa-miR-4531	CLIP-seq
MIRT2169811	hsa-miR-620	CLIP-seq
MIRT2169812	hsa-miR-626	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004032	Function	Aldose reductase (NADPH) activity	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0016491	Function	Oxidoreductase activity	IDA	15118078
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0050571	Function	1,5-anhydro-D-fructose reductase activity	IEA

Other IDs

• MIM: 617451
• HGNC: 23437
• e!Ensembl: ENSG00000165568

Protein

• UniProt ID: Q96JD6
• Protein name: 1,5-anhydro-D-fructose reductase (AF reductase) (EC 1.1.1.263) (Aldo-keto reductase family 1 member C-like protein 2) (Aldo-keto reductase family 1 member E2) (LoopADR) (Testis aldo-keto reductase) (htAKR) (Testis-specific protein) (hTSP)
• Protein function: Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose (AF) to 1,5-anhydro-D-glucitol (By similarity). Has low NADPH-dependent reductase activity towards 9,10-phenanthrenequinone (in vitro) (PubMed:12604216, PubMed:15118078). {ECO:000
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00248	Aldo_ket_red	6 → 298	Aldo/keto reductase family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in testis (PubMed:12604216, PubMed:15118078). Expressed in testicular germ cells and testis interstitial cells (PubMed:15118078). {ECO:0000269|PubMed:12604216, ECO:0000269|PubMed:15118078}.
• Sequence:

  MGDIPAVGLSSWKASPGKVTEAVKEAIDAGYRHFDCAYFYHNEREVGAGIRCKIKEGAVR
  REDLFIATKLWCTCHKKSLVETACRKSLKALKLNYLDLYLIHWPMGFKPPHPEWIMSCSE
  LSFCLSHPRVQDLPLDESNMVIPSDTDFLDTWEAMEDLVITGLVKNIGVSNFNHEQLERL
  LNKPGLRFKPLTNQIECHPYLTQKNLISFCQSRDVSVTAYRPLGGSCEGVDLIDNPVIKR
  IAKEHGKSPAQILIRFQIQRNVIVIPGSITPSHIKENIQVFDFELTQHDMDNILSLNRNL
  RLAMFPITKNHKDYPFHIEY

• Sequence length: 320

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Cataract	Associate	22935719	★★☆☆☆ Found in Text Mining + Unknown/Other Associations