RTP2

Summary

RTP2 (receptor transporter protein 2, HGNC:32486) is a protein-coding gene on chromosome 3q27.3, encoding Receptor-transporting protein 2 (Q5QGT7). Specifically promotes functional cell surface expression of olfactory receptors, but not of other GPCRs.

Enables olfactory receptor binding activity. Involved in protein insertion into membrane. Located in cell surface.

Source: NCBI Gene 344892 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 37 total — 1 pathogenic
• MANE Select transcript: NM_001004312

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32486
Approved symbol	RTP2
Name	receptor transporter protein 2
Location	3q27.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC78665, Z3CXXC2
Ensembl gene	ENSG00000198471
Ensembl biotype	protein_coding
OMIM	609138
Entrez	344892

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000358241, ENST00000950650

RefSeq mRNA: 1 — MANE Select: NM_001004312 NM_001004312

CCDS: CCDS33911

Canonical transcript exons

ENST00000358241 — 2 exons

Exon	Start	End
ENSE00001400393	187701965	187702557
ENSE00001402695	187698259	187699011

Expression profiles

Bgee: expression breadth broad, 11 present calls, max score 83.94.

Top tissues by expression

128 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.94	gold quality
gastrocnemius	UBERON:0001388	62.36	gold quality
muscle of leg	UBERON:0001383	61.29	gold quality
skeletal muscle tissue	UBERON:0001134	55.59	gold quality
hindlimb stylopod muscle	UBERON:0004252	52.60	gold quality
muscle tissue	UBERON:0002385	47.39	gold quality
left testis	UBERON:0004533	41.91	gold quality
testis	UBERON:0000473	41.72	gold quality
right testis	UBERON:0004534	41.38	gold quality
colonic epithelium	UBERON:0000397	41.36	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	33.90	gold quality
mucosa of stomach	UBERON:0001199	32.75	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
tonsil	UBERON:0002372	31.70	gold quality
right adrenal gland cortex	UBERON:0035827	31.25	gold quality
cortex of kidney	UBERON:0001225	31.24	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
placenta	UBERON:0001987	29.78	silver quality
prefrontal cortex	UBERON:0000451	29.70	gold quality
liver	UBERON:0002107	29.28	gold quality
islet of Langerhans	UBERON:0000006	29.15	gold quality
lymph node	UBERON:0000029	28.85	gold quality
monocyte	CL:0000576	28.67	gold quality
leukocyte	CL:0000738	28.58	gold quality
duodenum	UBERON:0002114	28.14	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting RTP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-198	98.70	67.32	920
HSA-MIR-4317	98.49	67.09	987
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-7111-3P	97.80	66.75	1467
HSA-MIR-3137	97.26	66.78	761

Literature-anchored findings (GeneRIF, showing 1)

• further cell-surface and permeabilized immunocytochemical studies revealed that odorant receptors (ORs) and the co-expressed RTP1S proteins were retained in the Golgi when co-transfected with RTP2, indicating that RTP1S and RTP2 could play different roles in the OR trafficking process. (PMID:28586385)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rtp2	ENSMUSG00000047531
rattus_norvegicus	Rtp2	ENSRNOG00000022160

Paralogs (4): RTP4 (ENSG00000136514), RTP3 (ENSG00000163825), RTP1 (ENSG00000175077), RTP5 (ENSG00000188011)

Protein

Protein identifiers

Receptor-transporting protein 2 — Q5QGT7 (reviewed: Q5QGT7)

Alternative names: 3CxxC-type zinc finger protein 2

All UniProt accessions (1): Q5QGT7

UniProt curated annotations — full annotation on UniProt →

Function. Specifically promotes functional cell surface expression of olfactory receptors, but not of other GPCRs.

Subunit / interactions. Interacts with olfactory receptors.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in circumvallate papillae and testis.

Similarity. Belongs to the TMEM7 family.

RefSeq proteins (1): NP_001004312* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026096	R-trans_p	Family
IPR027377	ZAR1/RTP1-5-like_Znf-3CxxC	Domain

Pfam: PF13695

UniProt features (6 total): topological domain 2, chain 1, transmembrane region 1, zinc finger region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5QGT7-F1	81.72	0.50

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9709957	Sensory Perception

MSigDB gene sets: 28 (showing top): GOBP_PROTEIN_TARGETING, GOCC_CELL_SURFACE, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, GOBP_DETECTION_OF_CHEMICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION_OF_TASTE, GOBP_SENSORY_PERCEPTION_OF_TASTE, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_G_PROTEIN_COUPLED_RECEPTOR_BINDING, GOBP_MEMBRANE_ORGANIZATION, GOMF_SIGNALING_RECEPTOR_BINDING, GOBP_LOCALIZATION_WITHIN_MEMBRANE, GOBP_PROTEIN_INSERTION_INTO_MEMBRANE, MARTENS_TRETINOIN_RESPONSE_UP

GO Biological Process (3): detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580), protein targeting to membrane (GO:0006612), protein insertion into membrane (GO:0051205)

GO Molecular Function (4): zinc ion binding (GO:0008270), olfactory receptor binding (GO:0031849), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Olfactory Signaling Pathway	1
Sensory Perception	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
establishment of protein localization to membrane	2
cellular anatomical structure	2
detection of chemical stimulus involved in sensory perception of taste	1
sensory perception of bitter taste	1
protein targeting	1
intracellular protein localization	1
membrane organization	1
transition metal ion binding	1
G protein-coupled receptor binding	1
binding	1
cation binding	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

606 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RTP2	REEP1	Q9H902	976
RTP2	CNGA4	Q8IV77	671
RTP2	CNGA2	Q16280	644
RTP2	ANO2	Q9NQ90	614
RTP2	RIC8B	Q9NVN3	596
RTP2	ADCY3	O60266	530
RTP2	ODR4	Q5SWX8	528
RTP2	GNG13	Q9P2W3	511
RTP2	ATL3	Q6DD88	491
RTP2	ATL2	Q8NHH9	491
RTP2	CHCHD1	Q96BP2	491
RTP2	OR6B3	Q8NGW1	471
RTP2	RABIF	P47224	454
RTP2	CNGB1	Q14028	452
RTP2	OR11H4	Q8NGC9	451

IntAct

220 interactions, top by confidence:

A	B	Type	Score
RTP2	KASH5	psi-mi:“MI:0915”(physical association)	0.560
KASH5	RTP2	psi-mi:“MI:0915”(physical association)	0.560
RTP2	UACA	psi-mi:“MI:0915”(physical association)	0.560
RTP2	SGPL1	psi-mi:“MI:0915”(physical association)	0.560
RTP2	CPLX4	psi-mi:“MI:0915”(physical association)	0.560
RTP2	ANKS6	psi-mi:“MI:0915”(physical association)	0.560
RTP2	SLC14A1	psi-mi:“MI:0915”(physical association)	0.560
RTP2	CD79A	psi-mi:“MI:0915”(physical association)	0.560
RTP2	CXorf66	psi-mi:“MI:0915”(physical association)	0.560
RTP2	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
RTP2	GPX8	psi-mi:“MI:0915”(physical association)	0.560
RTP2	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
RTP2	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
RTP2	ANK1	psi-mi:“MI:0915”(physical association)	0.560
RTP2	RNASEK	psi-mi:“MI:0915”(physical association)	0.560
RTP2	ELOVL7	psi-mi:“MI:0915”(physical association)	0.560
STX1A	RTP2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (88): RTP2 (Two-hybrid), RTP2 (Two-hybrid), RTP2 (Two-hybrid), RTP2 (Two-hybrid), RTP2 (Two-hybrid), RTP2 (Two-hybrid), RTP2 (Two-hybrid), RTP2 (Two-hybrid), RTP2 (Two-hybrid), RTP2 (Two-hybrid), RTP2 (Two-hybrid), RTP2 (Two-hybrid), RTP2 (Two-hybrid), RTP2 (Two-hybrid), RTP2 (Two-hybrid)

ESM2 similar proteins: A2ASA8, A2CI98, A2CJ06, A4IG61, A4IIW0, A7MB64, A8E4S7, O15482, P59025, P79621, Q08AI8, Q0IES7, Q0IES8, Q0V9X7, Q29H55, Q29H56, Q3TNL8, Q3UJB3, Q3UPR7, Q567X9, Q569B5, Q5MYT7, Q5QGT7, Q5TW90, Q640Z9, Q66H52, Q6DCQ5, Q6GNM3, Q6GPH6, Q6GQ81, Q6GQD9, Q6NYB4, Q7QHX4, Q80VA5, Q80ZF2, Q80ZI2, Q8BPP1, Q8C8C1, Q8CEZ4, Q8CI17

Diamond homologs: P59025, Q5QGT7, Q5QGU6, Q80ZI2, Q8C8C1, Q95JK0, Q96DX8, Q14D33, Q9BQQ7, Q9ER80

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

37 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	31
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	Pathogenic

SpliceAI

478 predictions. Top by Δscore:

Variant	Effect	Δscore
3:187701961:TCACC:T	donor_loss	1.0000
3:187701964:C:CT	donor_loss	1.0000
3:187701964:CCTG:C	donor_gain	1.0000
3:187701091:ACTGG:A	donor_gain	0.9900
3:187701092:CTGGC:C	donor_gain	0.9900
3:187701963:A:AC	donor_gain	0.9900
3:187701964:C:CC	donor_gain	0.9900
3:187702015:A:AC	donor_gain	0.9900
3:187702016:C:CC	donor_gain	0.9900
3:187702016:CTGGG:C	donor_gain	0.9900
3:187702446:T:C	donor_gain	0.9900
3:187699008:GAACC:G	acceptor_loss	0.9800
3:187699011:CCT:C	acceptor_loss	0.9800
3:187699012:C:G	acceptor_loss	0.9800
3:187699013:T:C	acceptor_loss	0.9800
3:187699016:C:CT	acceptor_gain	0.9800
3:187699017:G:T	acceptor_gain	0.9800
3:187701091:A:AC	donor_gain	0.9800
3:187701092:C:CC	donor_gain	0.9800
3:187698949:A:C	acceptor_gain	0.9700
3:187699012:C:CC	acceptor_gain	0.9600
3:187701961:TCAC:T	donor_gain	0.9600
3:187701962:CACC:C	donor_gain	0.9600
3:187701996:T:TA	donor_gain	0.9600
3:187702432:TCAG:T	donor_gain	0.9600
3:187698942:C:CT	acceptor_gain	0.9500
3:187701963:ACCT:A	donor_gain	0.9500
3:187701092:CTGG:C	donor_gain	0.9200
3:187701964:CCT:C	donor_gain	0.9100
3:187702279:CTGGA:C	donor_gain	0.9100

AlphaMissense

1489 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:187702099:C:A	W10C	0.999
3:187702099:C:G	W10C	0.999
3:187702048:C:A	W27C	0.998
3:187702048:C:G	W27C	0.998
3:187702050:A:G	W27R	0.998
3:187702050:A:T	W27R	0.998
3:187702101:A:G	W10R	0.998
3:187702101:A:T	W10R	0.998
3:187698954:G:C	F74L	0.997
3:187698954:G:T	F74L	0.997
3:187698956:A:G	F74L	0.997
3:187699008:G:C	F56L	0.997
3:187699008:G:T	F56L	0.997
3:187699010:A:G	F56L	0.997
3:187702049:C:G	W27S	0.997
3:187698814:A:G	L121P	0.996
3:187698981:C:A	W65C	0.996
3:187698981:C:G	W65C	0.996
3:187702100:C:G	W10S	0.996
3:187698907:C:G	R90P	0.995
3:187699009:A:G	F56S	0.995
3:187698913:C:G	R88P	0.993
3:187699002:G:C	C58W	0.993
3:187702043:A:G	L29P	0.993
3:187702088:A:G	F14S	0.993
3:187698890:A:G	C96R	0.992
3:187698922:C:T	G85D	0.992
3:187699004:A:G	C58R	0.992
3:187702049:C:A	W27L	0.991
3:187702087:G:C	F14L	0.991

dbSNP variants (sampled 300 via entrez): RS1000245521 (3:187713696 G>C), RS1000437584 (3:187707736 C>T), RS1000512330 (3:187708655 T>C,G), RS1000578139 (3:187714853 C>T), RS1000619301 (3:187703334 G>A,C), RS1000808129 (3:187702942 A>G), RS1001057976 (3:187708243 T>C), RS1001389986 (3:187700757 G>A), RS1001434689 (3:187706450 A>C,G), RS1001443000 (3:187700179 G>C), RS1001736485 (3:187700461 A>C), RS1001949657 (3:187713551 C>T), RS1001996640 (3:187702326 C>T), RS1002155420 (3:187707955 G>C), RS1002405506 (3:187713803 G>C)

Disease associations

OMIM: gene MIM:609138 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001784_21	Pulmonary function (smoking interaction)	5.000000e-07
GCST004219_1	Skin pigmentation	4.000000e-07
GCST009798_18	Asthma	2.000000e-09
GCST90002379_44	Basophil count	8.000000e-15

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0004713	FEV/FVC ratio
EFO:0005090	basophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
CGP 52608	increases reaction, affects binding	1
Lipopolysaccharides	affects response to substance, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.