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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51308
Gene name	Receptor accessory protein 2
Gene symbol	REEP2
Synonyms (NCBI Gene)	C5orf19SGC32445SPG72SPG72ASPG72BYip2d
Chromosome	5
Chromosome location	5q31.2
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 resu

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs111927109	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs483352923	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs483352924	G>T	Pathogenic	Intron variant
rs483352925	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1580980701	T>G	Likely-pathogenic	Splice donor variant

Show/Hide all (83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048176	hsa-miR-196a-5p	CLASH	23622248
MIRT042650	hsa-miR-423-3p	CLASH	23622248
MIRT666624	hsa-miR-6769a-3p	HITS-CLIP	23824327
MIRT666623	hsa-miR-1207-3p	HITS-CLIP	23824327
MIRT666622	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT666621	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT666620	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT666619	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT666618	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT666617	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT666616	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT666615	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT666614	hsa-miR-2861	HITS-CLIP	23824327
MIRT666613	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT666612	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT666611	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT666610	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT666609	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT666608	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT666624	hsa-miR-6769a-3p	HITS-CLIP	23824327
MIRT666623	hsa-miR-1207-3p	HITS-CLIP	23824327
MIRT666622	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT666621	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT666620	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT666619	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT666618	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT666617	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT666616	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT666615	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT666614	hsa-miR-2861	HITS-CLIP	23824327
MIRT666613	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT666612	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT666611	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT666610	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT666609	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT666608	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT1299379	hsa-miR-1207-5p	CLIP-seq
MIRT1299380	hsa-miR-125a-5p	CLIP-seq
MIRT1299381	hsa-miR-125b	CLIP-seq
MIRT1299382	hsa-miR-1289	CLIP-seq
MIRT1299383	hsa-miR-1291	CLIP-seq
MIRT1299384	hsa-miR-1293	CLIP-seq
MIRT1299385	hsa-miR-1908	CLIP-seq
MIRT1299386	hsa-miR-2467-3p	CLIP-seq
MIRT1299387	hsa-miR-3141	CLIP-seq
MIRT1299388	hsa-miR-3150b-3p	CLIP-seq
MIRT1299389	hsa-miR-3151	CLIP-seq
MIRT1299390	hsa-miR-4319	CLIP-seq
MIRT1299391	hsa-miR-4455	CLIP-seq
MIRT1299392	hsa-miR-4468	CLIP-seq
MIRT1299393	hsa-miR-4483	CLIP-seq
MIRT1299394	hsa-miR-4505	CLIP-seq
MIRT1299395	hsa-miR-4508	CLIP-seq
MIRT1299396	hsa-miR-4689	CLIP-seq
MIRT1299397	hsa-miR-4763-3p	CLIP-seq
MIRT1299398	hsa-miR-4784	CLIP-seq
MIRT1299399	hsa-miR-485-5p	CLIP-seq
MIRT1299400	hsa-miR-486-3p	CLIP-seq
MIRT1299401	hsa-miR-544b	CLIP-seq
MIRT1299402	hsa-miR-663	CLIP-seq
MIRT1299403	hsa-miR-744	CLIP-seq
MIRT1553073	hsa-miR-1915	CLIP-seq
MIRT2089087	hsa-miR-4768-5p	CLIP-seq
MIRT2313962	hsa-miR-205	CLIP-seq
MIRT2313963	hsa-miR-24	CLIP-seq
MIRT2313964	hsa-miR-4279	CLIP-seq
MIRT2313965	hsa-miR-4284	CLIP-seq
MIRT2393604	hsa-miR-1200	CLIP-seq
MIRT2393605	hsa-miR-2467-5p	CLIP-seq
MIRT2393606	hsa-miR-3188	CLIP-seq
MIRT2393607	hsa-miR-362-5p	CLIP-seq
MIRT2393608	hsa-miR-3975	CLIP-seq
MIRT2393609	hsa-miR-4324	CLIP-seq
MIRT2393610	hsa-miR-4649-3p	CLIP-seq
MIRT2393611	hsa-miR-4667-3p	CLIP-seq
MIRT2393612	hsa-miR-4749-3p	CLIP-seq
MIRT2393613	hsa-miR-4793-5p	CLIP-seq
MIRT1299399	hsa-miR-485-5p	CLIP-seq
MIRT2393614	hsa-miR-500b	CLIP-seq
MIRT1299401	hsa-miR-544b	CLIP-seq
MIRT2689656	hsa-miR-1233	CLIP-seq
MIRT2689657	hsa-miR-1912	CLIP-seq
MIRT2689658	hsa-miR-615-3p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IMP	24388663
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005881	Component	Cytoplasmic microtubule	IBA
GO:0005881	Component	Cytoplasmic microtubule	IDA	23264731
GO:0005886	Component	Plasma membrane	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0031883	Function	Taste receptor binding	IBA
GO:0031883	Function	Taste receptor binding	IEA
GO:0032386	Process	Regulation of intracellular transport	IEA
GO:0032596	Process	Protein transport into membrane raft	IEA
GO:0050913	Process	Sensory perception of bitter taste	IEA
GO:0050916	Process	Sensory perception of sweet taste	IEA
GO:0071782	Component	Endoplasmic reticulum tubular network	IBA
GO:0071786	Process	Endoplasmic reticulum tubular network organization	IBA
GO:0071786	Process	Endoplasmic reticulum tubular network organization	IMP	24388663

MIM	HGNC	e!Ensembl
609347	17975	ENSG00000132563

Q9BRK0

Protein name

Receptor expression-enhancing protein 2

Protein function

Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03134	TB2_DP1_HVA22	19 → 95	TB2/DP1, HVA22 family	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in brain, heart and skeletal muscle, and at low levels in placenta, kidney and pancreas (PubMed:11161817). Expressed in circumvallate papillae (PubMed:16720576). {ECO:0000269|PubMed:11161817, ECO:0000269|PubMed:16720576}.

Sequence

MVSWIISRLVVLIFGTLYPAYSSYKAVKTKNVKEYVKWMMYWIVFAFFTTAETLTDIVLS
WFPFYFELKIAFVIWLLSPYTKGSSVLYRKFVHPTLSNKEKEIDEYITQARDKSYETMMR
VGKRGLNLAANAAVTAAAKGVLSEKLRSFSMQDLTLIRDEDALPLQRPDGRLRPSPGSLL
DTIEDLGDDPALSLRSSTNPADSRTEASEDDMGDKAPKRAKPIKKAPKAEPLASKTLKTR
PKKKTSGGGDSA

Sequence length

252

Interactions

View interactions

	Reactome
			Olfactory Signaling 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
Hereditary spastic paraplegia 72	Likely pathogenic; Pathogenic	rs1763893777, rs752698231, rs483352923, rs1580980701, rs1763822813	RCV001330517 RCV001330518 RCV003444057 RCV000991434 RCV001071608	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic paraplegia 72b, autosomal recessive	Pathogenic	rs483352924, rs483352925	RCV003444058 RCV003444059	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia 5A	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
REEP2-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 72A, AUTOSOMAL DOMINANT	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autosomal spastic paraplegia type 72	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	24388663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34092653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT	Spastic paraplegia	ORPHANET_DG	24388663		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT	Spastic paraplegia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	24388663		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	24388663, 24482476		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE	Spastic Paraplegia	UNIPROT_DG	24388663		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	24388663, 26008818		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

REEP2 (receptor accessory protein 2)