REEP2 receptor accessory protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: REEP2provided by HGNC
Official Full Name: receptor accessory protein 2provided by HGNC
Primary source: HGNC:HGNC:17975
See related: Ensembl:ENSG00000132563 MIM:609347; AllianceGenome:HGNC:17975
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: SPG72; Yip2d; SPG72A; SPG72B; C5orf19; SGC32445
Summary: This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Expression: Biased expression in brain (RPKM 30.0), adrenal (RPKM 4.6) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (138439057..138446965)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (138965273..138973181)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (137774746..137782654)

Chromosome 5 - NC_000005.10 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 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?

A Nepalese family with an REEP2 mutation: clinical and genetic study.
Title: A Nepalese family with an REEP2 mutation: clinical and genetic study.
Expression of the REEP1/REEP2 subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders.
Title: REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues.
We have identified mutations in REEP2 in two families with relatively pure, early-onset hereditary spastic paraplegia, one with autosomal-dominant and the other with autosomal-recessive transmission.
Title: Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
In mouse, Reep2 enhances sweet receptor function by a different mechanism than Reep1 uses to enhance olfactory receptor function.
Title: REEP2 enhances sweet receptor function by recruitment to lipid rafts.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hereditary spastic paraplegia 72 MedGen: C5882669 OMIM: 615625 GeneReviews: Not available	Compare labs
Spastic paraplegia 72b, autosomal recessive MedGen: C5882720 OMIM: 620606 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables taste receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum tubular network organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum tubular network organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport into membrane raft	IEA Inferred from Electronic Annotation more info
involved_in regulation of intracellular transport	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of bitter taste	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sweet taste	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasmic microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum tubular network	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: receptor expression-enhancing protein 2

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.

Genomic

NG_033967.2 RefSeqGene

Range

5057..12965

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001271803.2 → NP_001258732.1 receptor expression-enhancing protein 2 isoform 1

See identical proteins and their annotated locations for NP_001258732.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC113403

Consensus CDS

CCDS64259.1

UniProtKB/TrEMBL

A8K3D2, A8K4Y6

Related

ENSP00000367590.2, ENST00000378339.7

Conserved Domains (1) summary

pfam03134
Location:19 → 94

TB2_DP1_HVA22; TB2/DP1, HVA22 family
NM_016606.4 → NP_057690.2 receptor expression-enhancing protein 2 isoform 2

See identical proteins and their annotated locations for NP_057690.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AC113403

Consensus CDS

CCDS4205.1

UniProtKB/Swiss-Prot

Q53EM8, Q9BRK0, Q9NYF2

UniProtKB/TrEMBL

A8K4Y6

Related

ENSP00000254901.5, ENST00000254901.9

Conserved Domains (1) summary

pfam03134
Location:19 → 94

TB2_DP1_HVA22; TB2/DP1, HVA22 family

RNA

NR_073448.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses two alternate in-frame splice sites in the coding region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC113403
NR_073449.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC113403