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	92840
Gene name	Receptor accessory protein 6
Gene symbol	REEP6
Synonyms (NCBI Gene)	C19orf32DP1L1REEP6.1REEP6.2RP77TB1TB2L1Yip2f
Chromosome	19
Chromosome location	19p13.3
Summary	The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper deve

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519316	T>C	Pathogenic	Coding sequence variant, missense variant
rs1057519317	C>T	Pathogenic	Coding sequence variant, missense variant
rs1057519341	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519427	->C	Pathogenic	Coding sequence variant, intron variant, frameshift variant

Show/Hide all (79)

miRTarBase ID	miRNA	Experiments
MIRT1299909	hsa-miR-1205	CLIP-seq
MIRT1299910	hsa-miR-1207-5p	CLIP-seq
MIRT1299911	hsa-miR-125a-3p	CLIP-seq
MIRT1299912	hsa-miR-1262	CLIP-seq
MIRT1299913	hsa-miR-1293	CLIP-seq
MIRT1299914	hsa-miR-1909	CLIP-seq
MIRT1299915	hsa-miR-296-5p	CLIP-seq
MIRT1299916	hsa-miR-3126-5p	CLIP-seq
MIRT1299917	hsa-miR-3131	CLIP-seq
MIRT1299918	hsa-miR-3135b	CLIP-seq
MIRT1299919	hsa-miR-3145-5p	CLIP-seq
MIRT1299920	hsa-miR-3165	CLIP-seq
MIRT1299921	hsa-miR-3184	CLIP-seq
MIRT1299922	hsa-miR-3192	CLIP-seq
MIRT1299923	hsa-miR-3199	CLIP-seq
MIRT1299924	hsa-miR-3652	CLIP-seq
MIRT1299925	hsa-miR-3665	CLIP-seq
MIRT1299926	hsa-miR-3689a-3p	CLIP-seq
MIRT1299927	hsa-miR-3689c	CLIP-seq
MIRT1299928	hsa-miR-3689d	CLIP-seq
MIRT1299929	hsa-miR-423-5p	CLIP-seq
MIRT1299930	hsa-miR-4281	CLIP-seq
MIRT1299931	hsa-miR-4430	CLIP-seq
MIRT1299932	hsa-miR-4446-3p	CLIP-seq
MIRT1299933	hsa-miR-4449	CLIP-seq
MIRT1299934	hsa-miR-4483	CLIP-seq
MIRT1299935	hsa-miR-4492	CLIP-seq
MIRT1299936	hsa-miR-4498	CLIP-seq
MIRT1299937	hsa-miR-4515	CLIP-seq
MIRT1299938	hsa-miR-4656	CLIP-seq
MIRT1299939	hsa-miR-4671-5p	CLIP-seq
MIRT1299940	hsa-miR-4695-3p	CLIP-seq
MIRT1299941	hsa-miR-4701-3p	CLIP-seq
MIRT1299942	hsa-miR-4721	CLIP-seq
MIRT1299943	hsa-miR-4728-5p	CLIP-seq
MIRT1299944	hsa-miR-4736	CLIP-seq
MIRT1299945	hsa-miR-4763-3p	CLIP-seq
MIRT1299946	hsa-miR-4786-5p	CLIP-seq
MIRT1299947	hsa-miR-508-5p	CLIP-seq
MIRT1299948	hsa-miR-520a-5p	CLIP-seq
MIRT1299949	hsa-miR-525-5p	CLIP-seq
MIRT1299950	hsa-miR-604	CLIP-seq
MIRT1299951	hsa-miR-611	CLIP-seq
MIRT1299952	hsa-miR-647	CLIP-seq
MIRT1299953	hsa-miR-657	CLIP-seq
MIRT1299954	hsa-miR-711	CLIP-seq
MIRT1299955	hsa-miR-762	CLIP-seq
MIRT1299956	hsa-miR-765	CLIP-seq
MIRT1299957	hsa-miR-769-5p	CLIP-seq
MIRT1299918	hsa-miR-3135b	CLIP-seq
MIRT1299922	hsa-miR-3192	CLIP-seq
MIRT1299924	hsa-miR-3652	CLIP-seq
MIRT2089183	hsa-miR-4300	CLIP-seq
MIRT2089184	hsa-miR-4313	CLIP-seq
MIRT1299931	hsa-miR-4430	CLIP-seq
MIRT2089185	hsa-miR-4479	CLIP-seq
MIRT1299935	hsa-miR-4492	CLIP-seq
MIRT1299936	hsa-miR-4498	CLIP-seq
MIRT2089186	hsa-miR-4634	CLIP-seq
MIRT1299943	hsa-miR-4728-5p	CLIP-seq
MIRT1299950	hsa-miR-604	CLIP-seq
MIRT2089187	hsa-miR-661	CLIP-seq
MIRT1299955	hsa-miR-762	CLIP-seq
MIRT2089188	hsa-miR-920	CLIP-seq
MIRT1299923	hsa-miR-3199	CLIP-seq
MIRT2610552	hsa-miR-4450	CLIP-seq
MIRT2610553	hsa-miR-4520a-5p	CLIP-seq
MIRT2610554	hsa-miR-4520b-5p	CLIP-seq
MIRT2610555	hsa-miR-4731-5p	CLIP-seq
MIRT2610556	hsa-miR-491-5p	CLIP-seq
MIRT1299950	hsa-miR-604	CLIP-seq
MIRT2610557	hsa-miR-637	CLIP-seq
MIRT2610552	hsa-miR-4450	CLIP-seq
MIRT2610553	hsa-miR-4520a-5p	CLIP-seq
MIRT2610554	hsa-miR-4520b-5p	CLIP-seq
MIRT2610555	hsa-miR-4731-5p	CLIP-seq
MIRT2610556	hsa-miR-491-5p	CLIP-seq
MIRT1299950	hsa-miR-604	CLIP-seq
MIRT2610557	hsa-miR-637	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IDA	27889058
GO:0005515	Function	Protein binding	IPI	16189514, 21516116, 21988832, 25416956, 25910212, 26871637, 28514442, 31515488, 32296183, 32814053, 33961781, 36217029, 36217030
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005783	Component	Endoplasmic reticulum	IDA	27889058
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0007029	Process	Endoplasmic reticulum organization	ISS
GO:0016020	Component	Membrane	IEA
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032386	Process	Regulation of intracellular transport	ISS
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP	27889058

MIM	HGNC	e!Ensembl
609346	30078	ENSG00000115255

Q96HR9

Protein name

Receptor expression-enhancing protein 6 (Polyposis locus protein 1-like 1)

Protein function

Required for correct function and survival of retinal photoreceptors (PubMed:27889058). Required for retinal development (By similarity). In rod photoreceptors, facilitates stability and/or trafficking of guanylate cyclases and is required to ma

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03134	TB2_DP1_HVA22	66 → 143	TB2/DP1, HVA22 family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in circumvallate papillae and testis (PubMed:16720576). Expressed in the retina. Isoform 1 is predominantly present in mature optic cups. Isoform 1 expression is confined to the cell body and inner segment of developing rod p

Sequence

MDGLRQRVEHFLEQRNLVTEVLGALEAKTGVEKRYLAAGAVTLLSLYLLFGYGASLLCNL
IGFVYPAYASIKAIESPSKDDDTVWLTYWVVYALFGLAEFFSDLLLSWFPFYYVGKCAFL
LFCMAPRPWNGALMLYQRVVRPLFLRHHGAVDRIMNDLSGRALDAAAGITRNVLQVLARS
RAGITPVAVAGPSTPLEADLKPSQTPQPKDK

Sequence length

211

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Pathogenic	rs761786834	RCV001257782	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic	rs112200356	RCV005419109	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 77	Pathogenic; Likely pathogenic	rs2085005383, rs1388664420, rs1057519316, rs1057519427, rs1057519317, rs1057519341	RCV001591835 RCV005860271 RCV000415663 RCV000415710 RCV000415637 RCV000416375 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

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.
Malignant tumor of urinary bladder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
REEP6-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (41)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	35875026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27966653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	19924442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19924442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19924442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	19924442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	19924442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36552760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	19924442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19924442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27966653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19924442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19924442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Posterior subcapsular cataract	Capsular cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	27889058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	24691551		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	27889058, 28369466, 28475715		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	27889058		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	31538292, 33917198	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 77	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	24691551		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 77	Retinitis Pigmentosa	UNIPROT_DG	27889058, 28369466, 29120066		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 77	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 77	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	29120066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19924442		★★★★★ ★☆☆☆☆ Found in Text Mining only

REEP6 (receptor accessory protein 6)