RBP2 retinol binding protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBP2provided by HGNC
Official Full Name: retinol binding protein 2provided by HGNC
Primary source: HGNC:HGNC:9920
See related: Ensembl:ENSG00000114113 MIM:180280; AllianceGenome:HGNC:9920
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CRBP2; RBPC2; CRBPII; CRABP-II
Summary: This gene encodes an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. This protein may also modulate the supply of retinoic acid to the nuclei of endometrial cells during the menstrual cycle. [provided by RefSeq, Aug 2015]
Annotation information: Note: RBP2 (Gene ID: 5948) and KDM5A (Gene ID: 5927) share the RBP2 symbol/alias in common. RBP2 is a widely used alternative name for lysine demethylase 5A (KDM5A), which can be confused with the official symbol for retinol binding protein 2 (RBP2). [03 Jul 2018]
Expression: Biased expression in duodenum (RPKM 1065.7) and small intestine (RPKM 769.4) See more
Orthologs: mouse all
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Genomic context

Location:: 3q23

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (139452884..139476516, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (142200416..142224059, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (139171726..139195358, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Effect of RBP2 gene silencing on proliferation, migration and invasion of ovarian epithelial cancer SKOV3/DDP cells and its mechanism].
Title: [Effect of RBP2 gene silencing on proliferation, migration and invasion of ovarian epithelial cancer SKOV3/DDP cells and its mechanism].
molecular dynamics simulations for the uptake of retinol by CRBP 1 and 2
Title: Deciphering protein dynamics changes along the pathway of retinol uptake by cellular retinol-binding proteins 1 and 2.
study demonstrates that Piasy may prevent exaggerated transcription of IFNI by Rbp2-mediated demethylation of H3K4me3 of IFNI, avoiding excessive immune responses
Title: Chromatin remodeling: demethylating H3K4me3 of type I IFNs gene by Rbp2 through interacting with Piasy for transcriptional attenuation.
Domain-swapped dimers of RBP2 provides evidence for ordered folding intermediates.
Title: Domain-Swapped Dimers of Intracellular Lipid-Binding Proteins: Evidence for Ordered Folding Intermediates.
The structure of retinal-bound human CRBPII and the structure of retinol-bound CRBPII with retinol fully occupying the binding pocket are reported.
Title: Structures of holo wild-type human cellular retinol-binding protein II (hCRBPII) bound to retinol and retinal.
With only nine point mutations, the hCRBPII mutants induced a systematic shift in the absorption profile of all-trans-retinal of more than 200 nanometers across the visible spectrum.
Title: Tuning the electronic absorption of protein-embedded all-trans-retinal.
Data show that CRBPI and CRBPII bind 9-cis-retinol and 9-cis-retinal with high affinities, albeit with affinities somewhat lower than for all-trans-retinol and all-trans-retinal.
Title: Binding affinities of CRBPI and CRBPII for 9-cis-retinoids.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer.
HNF-4alpha is an important transcriptional factor that regulates human CRBPII gene expression; possibility for a novel function of HNF-4alpha in the regulation of human intestinal vitamin A absorption and metabolism
Title: Hepatocyte nuclear factor-4alpha regulates human cellular retinol-binding protein type II gene expression in intestinal cells.
We report here the X-ray structures of human apo and holo CRBP II solved at 1.2 A resolution and compare the two structures between them and with the structures of zebrafish and rat CRBP II.
Title: Crystal structure of human cellular retinol-binding protein II to 1.2 A resolution.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

PMC31117P1 (e-PCR)
- UniSTS:272897

D3S1764 (e-PCR), detects polymorphism
- UniSTS:66578

NoName (e-PCR)
- UniSTS:481572

NoName (e-PCR)
- UniSTS:483879

STS-T63266 (e-PCR)
- UniSTS:52054

SHGC-37045 (e-PCR)
- UniSTS:2695

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fatty acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables retinal binding	IEA Inferred from Electronic Annotation more info
enables retinoid binding	TAS Traceable Author Statement more info	PubMed
enables retinol binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in fatty acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin A metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: retinol-binding protein 2

Names: CRBP-II; cellular retinol-binding protein II; retinol binding protein 2, cellular

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.