2. Gene
  3. REEP6 - receptor accessory protein 6 Gene

REEP6 - receptor accessory protein 6 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as RP77; DP1L1; TB2L1; Yip2f; REEP6.1; REEP6.2; C19orf32

Gene ID: 92840 | Gene type: protein coding

About REEP6

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,491,181-1,497,927 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 114.3), duodenum (RPKM 92.1) and 6 other tissues.

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 development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]

REEP6 Products(2)

mRNA Protein Name
NM_001329556.3 NP_001316485.1 receptor expression-enhancing protein 6 isoform 1
NM_138393.4 NP_612402.1 receptor expression-enhancing protein 6 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence Reference Source
involved in detection of light stimulus involved in visual perception IMP
IMP: Inferred from mutant phenotype
27889058 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
27889058 GOA
located in photoreceptor inner segment IDA
IDA: Inferred from direct assay
27889058 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

REEP6 Protein Structure

TB2_DP1_HVA22

TB2_DP1_HVA22: TB2/DP1, HVA22 family (50 - 144)

  • 0
  • 100
  • 184 a.a.
Protein Preferred Names Protein Names

receptor expression-enhancing protein 6

deleted in polyposis 1-like 1

REEP6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra REEP6 Q96HR9 HMBOX1 Homo sapiens Q6NT76-2
Y2H Array
25416956
Intra REEP6 Q96HR9 HMBOX1 Homo sapiens Q6NT76-2
Y2H Prey Pooling
25416956
Intra REEP6 Q96HR9 HMBOX1 Homo sapiens Q6NT76-2
Validated Y2H
25416956
Intra REEP6 Q96HR9 PTPN9 Homo sapiens Q6IQ43
Validated Y2H
25416956
Intra REEP6 Q96HR9 PTPN9 Homo sapiens Q6IQ43
Y2H Array
25416956
Cross REEP6 Q96HR9 ns6_sars2 SARS-CoV-2 P0DTC6
Y2H Array
36217030
Intra REEP6 Q96HR9 HMBOX1 Homo sapiens Q6NT76
Y2H Array
25416956
Intra REEP6 Q96HR9 SNX1 Homo sapiens Q13596
Validated Y2H
25416956
Intra REEP6 Q96HR9 SNX1 Homo sapiens Q13596
Y2H Prey Pooling
25416956
Intra REEP6 Q96HR9 ZFYVE21 Homo sapiens Q9BQ24
Y2H Prey Pooling
25416956
Intra REEP6 Q96HR9 ZFYVE21 Homo sapiens Q9BQ24
Y2H Array
25416956
Intra REEP6 Q96HR9 LITAF Homo sapiens Q99732
Y2H Array
31515488
Intra REEP6 Q96HR9 LITAF Homo sapiens Q99732
Y2H Array
25416956
Intra REEP6 Q96HR9 LITAF Homo sapiens Q99732
Y2H Prey Pooling
25416956
Intra REEP6 Q96HR9 SNX15 Homo sapiens Q9NRS6
Y2H Array
31515488
Intra REEP6 Q96HR9 SNX15 Homo sapiens Q9NRS6
Y2H Prey Pooling
25416956
Intra REEP6 Q96HR9 SNX15 Homo sapiens Q9NRS6
Y2H Array
25416956
Intra REEP6 Q96HR9 SNX15 Homo sapiens Q9NRS6
Y2H
21516116
Intra REEP6 Q96HR9 SDCBP Homo sapiens O00560
Y2H Array
25416956
Intra REEP6 Q96HR9 FHIP1B Homo sapiens Q8N612
Y2H Array
25416956
Intra REEP6 Q96HR9 SPG21 Homo sapiens Q9NZD8
Validated Y2H
25416956
Intra REEP6 Q96HR9 SPG21 Homo sapiens Q9NZD8
Y2H Array
31515488
Intra REEP6 Q96HR9 SPG21 Homo sapiens Q9NZD8
Y2H Prey Pooling
25416956
Intra REEP6 Q96HR9 SPG21 Homo sapiens Q9NZD8
Y2H Array
25416956
Intra REEP6 Q96HR9 COQ8A Homo sapiens Q8NI60
Y2H Array
25416956
Intra REEP6 Q96HR9 COQ8A Homo sapiens Q8NI60
Y2H Array
31515488
Intra REEP6 Q96HR9 TNS2 Homo sapiens Q63HR2
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Retinitis Pigmentosa 77

RP77

Retinitis Pigmentosa, Type 77
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11817 REEP6 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris REEP6 VGNC VGNC:81922
Bos taurus REEP6 VGNC VGNC:33856
Rattus norvegicus REEP6 RGD RGD:1309508
Felis catus REEP6 VGNC VGNC:64564
Mus musculus REEP6 MGD MGI:1917585