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 all-trans-retinol dehydrogenase (NADP+) activity. Involved in osteoblast differentiation. Located in cytosol; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in heart (RPKM 13.2), prostate (RPKM 10.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p24.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (18554723..18560653, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (18586834..18592767, complement)
RS_2024_09	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

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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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.

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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

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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)

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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.