RDH14 retinol dehydrogenase 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RDH14provided by HGNC
Official Full Name: retinol dehydrogenase 14provided by HGNC
Primary source: HGNC:HGNC:19979
See related: Ensembl:ENSG00000240857 MIM:616796; AllianceGenome:HGNC:19979
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PAN2; SDR7C4
Summary: Enables NADP-retinol dehydrogenase activity. Involved in osteoblast differentiation. Located in cytosol; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in heart (RPKM 13.2), prostate (RPKM 10.6) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 2p24.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (18554723..18560653, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (18586834..18592767, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (18735989..18741919, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14.
Title: Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
kinetic constants and expression pattern of PAN2 suggest that it is likely to function as a reductase in vivo and might contribute to the reduction of retinaldehyde to retinol in most human tissues
Title: Human pancreas protein 2 (PAN2) has a retinal reductase activity and is ubiquitously expressed in human tissues.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH102895 (e-PCR)
- UniSTS:97229

RDH14__5475 (e-PCR)
- UniSTS:463857

Readthrough NT5C1B-RDH14

Readthrough gene: NT5C1B-RDH14, Included gene: NT5C1B

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 11-cis-retinol dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables all-trans-retinol dehydrogenase (NADP+) activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans-retinol dehydrogenase (NADP+) activity	TAS Traceable Author Statement more info
NOT enables steroid dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in osteoblast differentiation	HDA more info	PubMed
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in lysosomal membrane	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: retinol dehydrogenase 14

Names: alcohol dehydrogenase PAN2; pancreas protein 2; retinol dehydrogenase 14 (all-trans and 9-cis); retinol dehydrogenase 14 (all-trans/9-cis/11-cis); short chain dehydrogenase/reductase family 7C member 4

NP_065956.1

EC 1.1.1.300

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.