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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51308
Gene name Gene Name - the full gene name approved by the HGNC.	Receptor accessory protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	REEP2
Synonyms (NCBI Gene) Gene synonyms aliases	C5orf19, SGC32445, SPG72, SPG72A, SPG72B, Yip2d
Disease Acronyms (UniProt) Disease acronyms from UniProt database	SPG72A, SPG72B
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q31.2
Summary Summary of gene provided in NCBI Entrez Gene.	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(16)

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	21873635
GO:0005881	Component	Cytoplasmic microtubule	IBA	21873635
GO:0005881	Component	Cytoplasmic microtubule	IDA	23264731
GO:0005887	Component	Integral component of plasma membrane	IEA
GO:0008017	Function	Microtubule binding	IBA	21873635
GO:0016020	Component	Membrane	IBA	21873635
GO:0031883	Function	Taste receptor binding	IBA	21873635
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	21873635
GO:0071786	Process	Endoplasmic reticulum tubular network organization	IBA	21873635
GO:0071786	Process	Endoplasmic reticulum tubular network organization	IMP	24388663

MIM	HGNC	e!Ensembl
609347	17975	ENSG00000132563

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Spastic paraplegia	Spastic Paraplegia, SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, Autosomal spastic paraplegia type 72	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520 View all (368 more)	24388663, 24482476

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Spastic Paraplegia	hereditary spastic paraplegia 72, hereditary spastic paraplegia	GenCC
Schizophrenia	Schizophrenia	GWAS

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining
Parkinson Disease	Associate	34092653

REEP2 (receptor accessory protein 2)