Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57665
Gene name	Retinol dehydrogenase 14
Gene symbol	RDH14
Synonyms (NCBI Gene)	PAN2SDR7C4
Chromosome	2
Chromosome location	2p24.2

Show/Hide all (53)

miRTarBase ID	miRNA	Experiments
MIRT1299082	hsa-miR-1297	CLIP-seq
MIRT1299083	hsa-miR-147	CLIP-seq
MIRT1299084	hsa-miR-26a	CLIP-seq
MIRT1299085	hsa-miR-26b	CLIP-seq
MIRT1299086	hsa-miR-329	CLIP-seq
MIRT1299087	hsa-miR-3591-3p	CLIP-seq
MIRT1299088	hsa-miR-362-3p	CLIP-seq
MIRT1299089	hsa-miR-3653	CLIP-seq
MIRT1299090	hsa-miR-3658	CLIP-seq
MIRT1299091	hsa-miR-3691-3p	CLIP-seq
MIRT1299092	hsa-miR-3692	CLIP-seq
MIRT1299093	hsa-miR-4289	CLIP-seq
MIRT1299094	hsa-miR-4432	CLIP-seq
MIRT1299095	hsa-miR-4465	CLIP-seq
MIRT1299096	hsa-miR-4514	CLIP-seq
MIRT1299097	hsa-miR-4528	CLIP-seq
MIRT1299098	hsa-miR-4645-5p	CLIP-seq
MIRT1299099	hsa-miR-4659a-3p	CLIP-seq
MIRT1299100	hsa-miR-4659b-3p	CLIP-seq
MIRT1299101	hsa-miR-4673	CLIP-seq
MIRT1299102	hsa-miR-4692	CLIP-seq
MIRT1299103	hsa-miR-4733-3p	CLIP-seq
MIRT1299104	hsa-miR-4795-3p	CLIP-seq
MIRT1299105	hsa-miR-499-5p	CLIP-seq
MIRT1299106	hsa-miR-513a-3p	CLIP-seq
MIRT1299107	hsa-miR-581	CLIP-seq
MIRT1299108	hsa-miR-664	CLIP-seq
MIRT1299109	hsa-miR-802	CLIP-seq
MIRT2088943	hsa-miR-3145-5p	CLIP-seq
MIRT1299103	hsa-miR-4733-3p	CLIP-seq
MIRT2088944	hsa-miR-4764-3p	CLIP-seq
MIRT2313877	hsa-miR-1200	CLIP-seq
MIRT1299083	hsa-miR-147	CLIP-seq
MIRT2313878	hsa-miR-190	CLIP-seq
MIRT2313879	hsa-miR-190b	CLIP-seq
MIRT2313880	hsa-miR-3187-3p	CLIP-seq
MIRT1299086	hsa-miR-329	CLIP-seq
MIRT1299088	hsa-miR-362-3p	CLIP-seq
MIRT2313881	hsa-miR-374a	CLIP-seq
MIRT2313882	hsa-miR-374b	CLIP-seq
MIRT2313883	hsa-miR-410	CLIP-seq
MIRT2313884	hsa-miR-4327	CLIP-seq
MIRT2313885	hsa-miR-4517	CLIP-seq
MIRT2313886	hsa-miR-4529-5p	CLIP-seq
MIRT2313887	hsa-miR-4738-3p	CLIP-seq
MIRT1299107	hsa-miR-581	CLIP-seq
MIRT2313888	hsa-miR-888	CLIP-seq
MIRT2313889	hsa-miR-889	CLIP-seq
MIRT2313887	hsa-miR-4738-3p	CLIP-seq
MIRT2610426	hsa-miR-548ac	CLIP-seq
MIRT2610427	hsa-miR-548d-3p	CLIP-seq
MIRT2610428	hsa-miR-548z	CLIP-seq
MIRT2313888	hsa-miR-888	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	IDA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008106	Function	Alcohol dehydrogenase (NADP+) activity	IEA
GO:0016020	Component	Membrane	HDA	16210410
GO:0016229	Function	Steroid dehydrogenase activity	IDA	12435598
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042572	Process	Retinol metabolic process	IEA
GO:0052650	Function	All-trans-retinol dehydrogenase (NADP+) activity	IDA	12435598
GO:0052650	Function	All-trans-retinol dehydrogenase (NADP+) activity	IEA
GO:0052650	Function	All-trans-retinol dehydrogenase (NADP+) activity	TAS
GO:0102354	Function	11-cis-retinol dehydrogenase (NADP+) activity	IEA

MIM	HGNC	e!Ensembl
616796	19979	ENSG00000240857

Q9HBH5

Protein name

Retinol dehydrogenase 14 (EC 1.1.1.300) (Alcohol dehydrogenase PAN2) (Short chain dehydrogenase/reductase family 7C member 4)

Protein function

Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol. Shows a very weak activity towards 13-cis-retinol. Has no activity towards steroid.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00106	adh_short	44 → 260	short chain dehydrogenase	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12435598}.

Sequence

MAVATAAAVLAALGGALWLAARRFVGPRVQRLRRGGDPGLMHGKTVLITGANSGLGRATA
AELLRLGARVIMGCRDRARAEEAAGQLRRELRQAAECGPEPGVSGVGELIVRELDLASLR
SVRAFCQEMLQEEPRLDVLINNAGIFQCPYMKTEDGFEMQFGVNHLGHFLLTNLLLGLLK
SSAPSRIVVVSSKLYKYGDINFDDLNSEQSYNKSFCYSRSKLANILFTRELARRLEGTNV
TVNVLHPGIVRTNLGRHIHIPLLVKPLFNLVSWAFFKTPVEGAQTSIYLASSPEVEGVSG
RYFGDCKEEELLPKAMDESVARKLWDISEVMVGLLK

Sequence length

336

Interactions

View interactions

	Reactome
			RA biosynthesis pathway

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar atrophy	Likely pathogenic	rs779464218	RCV001254942	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs779464218	RCV001254942	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METASTATIC COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	10836999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17760744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17760744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	34848785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34848785	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17760744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	9458099		★★★★★ ★☆☆☆☆ Found in Text Mining only

RDH14 (retinol dehydrogenase 14)