2. Gene
  3. REEP2 - receptor accessory protein 2 Gene

REEP2 - receptor accessory protein 2 Gene

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

Also known as SPG72; Yip2d; C5orf19; SGC32445

Gene ID: 51308 | Gene type: protein coding

About REEP2

Cytogenetic location: 5q31.2 Genomic coordinates (GRCh38): 5:138,439,057-138,446,965 (from NCBI)

This gene has 10 transcripts (splice variants), 207 orthologues, 5 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 30.0), adrenal (RPKM 4.6) and 8 other tissues.

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 results in multiple transcript variants. [provided by RefSeq, Nov 2012]

REEP2 Products(2)

mRNA Protein Name
NM_001271803.2 NP_001258732.1 receptor expression-enhancing protein 2 isoform 1
NM_016606.4 NP_057690.2 receptor expression-enhancing protein 2 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
32296183 GOA
Biological Process GO Annotation Evidence Reference Source
involved in endoplasmic reticulum tubular network organization IMP
IMP: Inferred from mutant phenotype
24388663 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasmic microtubule IDA
IDA: Inferred from direct assay
23264731 GOA
located in endoplasmic reticulum IMP
IMP: Inferred from mutant phenotype
24388663 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

REEP2 Protein Structure

TB2_DP1_HVA22

TB2_DP1_HVA22: TB2/DP1, HVA22 family (5 - 95)

  • 0
  • 100
  • 200
  • 252 a.a.
Protein Preferred Names Protein Names

receptor expression-enhancing protein 2

REEP2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
REEP2 Q9BRK0 TMEM208 Homo sapiens Q9BTX3
Validated Y2H
32296183
Intra
REEP2 Q9BRK0 TMEM60 Homo sapiens Q9H2L4
Validated Y2H
32296183
Intra
REEP2 Q9BRK0 NAT8 Homo sapiens Q9UHE5
Validated Y2H
32296183
Intra
REEP2 Q9BRK0 TMX2 Homo sapiens Q9Y320
Validated Y2H
32296183
Intra
REEP2 Q9BRK0 RABAC1 Homo sapiens Q9UI14
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

REEP2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82105 REEP2 Antibody (YA1850) WB Human

Related Diseases

Diseases Alias
Spastic Paraplegia 72, Autosomal Recessive

Spastic Paraplegia 72, Autosomal Dominant

SPG72

Spastic Paraplegia 72

Autosomal Dominant Spastic Paraplegia 72

Autosomal Recessive Spastic Paraplegia 72

Paraplegia, Spastic, Type 72, Autosomal Recessive
Hereditary Spastic Paraplegia 72

Autosomal Spastic Paraplegia Type 72

Spg72

Spastic Paraplegia 72, Autosomal Recessive
Spastic Paraplegia 57, Autosomal Recessive

SPG57

Hereditary Spastic Paraplegia 57

Autosomal Recessive Spastic Paraplegia Type 57

Autosomal Recessive Spastic Paraplegia 57

Spastic Paraplegia Due To Partial Tfg Deficiency

Paraplegia, Spastic, Type 57, Autosomal Recessive
Spastic Paraplegia 75, Autosomal Recessive

SPG75

Hereditary Spastic Paraplegia 75

Autosomal Recessive Spastic Paraplegia Type 75

Autosomal Recessive Spastic Paraplegia 75
Spastic Paraplegia 61, Autosomal Recessive

SPG61

Hereditary Spastic Paraplegia 61

Autosomal Recessive Spastic Paraplegia Type 61

Autosomal Recessive Spastic Paraplegia 61

Paraplegia, Spastic, Type 61, Autosomal Recessive
Spastic Paraplegia 31, Autosomal Dominant

SPG31

Hereditary Spastic Paraplegia 31

Spastic Paraplegia 31

Autosomal Dominant Spastic Paraplegia 31

Autosomal Dominant Spastic Paraplegia Type 31

Spastic Paraplegia Type 31

Paraplegia, Spastic, Autosomal Dominant, Type 31
Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Spastic Paraplegia 62, Autosomal Recessive

SPG62

Hereditary Spastic Paraplegia 62

Autosomal Recessive Spastic Paraplegia Type 62

Spastic Paraplegia 62

Autosomal Recessive Spastic Paraplegia 62

Paraplegia, Spastic, Type 62
Spastic Paraplegia 80, Autosomal Dominant

SPG80

Hereditary Spastic Paraplegia 80

Spastic Paraplegia 80 Autosomal Dominant

Doid:0112341
Spastic Paraplegia 82, Autosomal Recessive

SPG82

Hereditary Spastic Paraplegia 82

Spastic Paraplegia 82 Autosomal Recessive

Doid:0112343
Spastic Paraplegia 81, Autosomal Recessive

SPG81

Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction

Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction

Hereditary Spastic Paraplegia 81

Spastic Paraplegia 81 Autosomal Recessive

Doid:0112349
Spastic Paraplegia 4, Autosomal Dominant

SPG4

Hereditary Spastic Paraplegia 4

Fsp2

Autosomal Dominant Spastic Paraplegia Type 4

Familial Spastic Paraplegia, Autosomal Dominant, 2

Autosomal Dominant Spastic Paraplegia 4

Familial Spastic Paraplegia Autosomal Dominant 2

Paraplegia, Spastic, Autosomal Dominant, Type 4
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
Hereditary Spastic Paraplegia 30

Autosomal Spastic Paraplegia Type 30

Spg30

Autosomal Recessive Spastic Paraplegia 30
Spastic Paraplegia 18, Autosomal Recessive

SPG18

Idmdc

Hereditary Spastic Paraplegia 18

Intellectual Disability, Motor Dysfunction, And Joint Contractures

Autosomal Recessive Spastic Paraplegia Type 18

Autosomal Recessive Spastic Paraplegia 18

Intellectual Disability, Motor Dysfunction And Joint Contractures

Spastic Paraplegia 18

Intellectual Disability Motor Dysfunction And Joint Contractures

Paraplegia, Spastic, Type 18
Spastic Paraplegia 26, Autosomal Recessive

SPG26

Hereditary Spastic Paraplegia 26

Autosomal Recessive Spastic Paraplegia Type 26

Gm2 Synthase Deficiency

Spastic Paraplegia 26

Autosomal Recessive Spastic Paraplegia 26

Paraplegia, Spastic, Autosomal Recessive, Type 26
Spastic Paraplegia 9b, Autosomal Recessive

SPG9B

Autosomal Recessive Complex Spastic Paraplegia Type 9b

Hereditary Spastic Paraplegia 9b

Autosomal Recessive Spastic Paraplegia 9b

Autosomal Recessive Spastic Paraplegia Type 9b

Ar-Spg9b
Spinocerebellar Ataxia 29

Spinocerebellar Ataxia Type 29

SCA29

Cnpca

Cerebellar Vermis Aplasia

Aplasia Of Cerebellar Vermis

Acv

Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant

Spinocerebellar Ataxia 29, Congenital Nonprogressive

Congenital Nonprogressive Spinocerebellar Ataxia

Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia

Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive

Familial Aplasia Of The Vermis
Spastic Paraplegia 79, Autosomal Recessive

Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome

SPG79

Neurodegeneration With Optic Atrophy, Childhood-Onset

Ndgoa

Hereditary Spastic Paraplegia 79

Spastic Paraplegia 79 Autosomal Recessive

Doid:0112344

Neurodegeneration, With Optic Atrophy, Childhood-Onset
Spastic Paraplegia 6, Autosomal Dominant

SPG6

Fsp3

Hereditary Spastic Paraplegia 6

Autosomal Dominant Spastic Paraplegia Type 6

Spastic Paraplegia 6

Familial Spastic Paraplegia Autosomal Dominant 3

Familial Spastic Paraplegia, Autosomal Dominant, 3

Autosomal Dominant Familial Spastic Paraplegia Type 3

Autosomal Dominant Spastic Paraplegia 6

Spastic Paraplegia-6

Paraplegia, Spastic, Type 6
Spastic Paraplegia 9a, Autosomal Dominant

Hereditary Spastic Paraplegia 9a

SPG9A

Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities

Ad-Spg9a

Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome

Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux

Autosomal Dominant Complex Spastic Paraplegia Type 9a

Autosomal Dominant Spastic Paraplegia 9a

Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities

Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux

Autosomal Dominant Spastic Paraplegia Type 9a

Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux

Spastic Paraplegia 9, Autosomal Dominant
Spastic Paraplegia 12, Autosomal Dominant

SPG12

Hereditary Spastic Paraplegia 12

Autosomal Dominant Spastic Paraplegia Type 12

Autosomal Dominant Spastic Paraplegia 12

Spastic Paraplegia 12

Spastic Paraplegia-12

Paraplegia, Spastic, Autosomal Dominant, Type 12
Spastic Paraplegia 20, Autosomal Recessive

Troyer Syndrome

SPG20

Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting

Spastic Paraplegia, Autosomal Recessive, Troyer Type

Autosomal Recessive Spastic Paraplegia Type 20

Autosomal Recessive Hereditary Spastic Paraplegia

Spastic Paraplegia 20

Cross-Mckusick Syndrome

Autosomal Recessive Spastic Paraplegia 20

Autosomal Recessive Spastic Paraplegia Troyer Type

Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting

Hereditary Spastic Paraplegia 20

Spastic Paraplegia Type 20

Hereditary Spastic Paraplegia

Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome

Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting

Spastic Paraplegia Autosomal Recessive Troyer Type

Trs

Spastic Paraplegia Hereditary Autosomal Recessive

Spastic Paraplegia, Hereditary
Spastic Paraplegia 45, Autosomal Recessive

SPG45

Hereditary Spastic Paraplegia 45

Autosomal Recessive Spastic Paraplegia Type 45

Autosomal Recessive Spastic Paraplegia Type 65

Spg65

Autosomal Recessive Spastic Paraplegia 45

Paraplegia, Spastic, Type 45, Autosomal Recessive
Masa Syndrome

L1 Syndrome

Crash Syndrome

X-Linked Hydrocephalus Syndrome

SPG1

Gareis-Mason Syndrome

Spastic Paraplegia 1, X-Linked

Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome

L1cam Syndrome

Spastic Paraplegia 1

Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs

Clasped Thumb And Mental Retardation

Thumb, Congenital Clasped, With Mental Retardation

Adducted Thumb With Mental Retardation

Hereditary Spastic Paraplegia 1

X-Linked Complicated Hereditary Spastic Paraplegia Type 1

X-Linked Corpus Callosum Agenesis

X-Linked Spastic Paraplegia 1

L1 Disease

X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis

Adducted Thumb With Intellectual Disability

Clasped Thumb And Intellectual Disability

Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs

Thumb Congenital Clasped With Intellectual Disability

X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome

Adducted Thumbs-Mental Retardation Syndrome

Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome

Mental Retardation-Clasped Thumb Syndrome

Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome

Spastic Paraplegia Type 1, X-Linked

MASA

Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus

Crash

Masa Syndrome
Spastic Paraplegia 10, Autosomal Dominant

SPG10

Hereditary Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia Type 10

Spastic Paraplegia 10

Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

Autosomal Dominant Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia

Spastic Paraplegia, Autosomal Dominant

Paraplegia, Spastic, Autosomal Dominant, Type 10
Spastic Paraplegia 2, X-Linked

SPG2

Hereditary Spastic Paraplegia 2

Sppx2

Spastic Paraplegia Type 2

Spastic Paraplegia 2

Hereditary X-Linked Recessive Spastic Paraplegia

X-Linked Spastic Paraplegia 2

X Linked Recessive Hereditary Spastic Paraplegia

Spastic Gait Type 2

Spastic Paraparesis Type 2

X-Linked Spastic Paraplegia Type 2

Spastic Paraplegia Type 2, X-Linked

Spastic Paraplegia-2

Paraplegia, Spastic, Type 2
Neuronopathy, Distal Hereditary Motor, Type Va

Dsmav

Distal Hereditary Motor Neuropathy Type V

Young Adult-Onset Distal Hereditary Motor Neuropathy

Neuronopathy, Distal Hereditary Motor, Type V

Distal Hereditary Motor Neuronopathy Type 5

Dhmn5

Distal Spinal Muscular Atrophy Type 5

HMN5A

Hmn5

Dhmn5a

Dhmn Va

Dsmava

Spinal Muscular Atrophy, Distal, With Upper Limb Predominance

Distal Hmn V

Autosomal Recessive Distal Spinal Muscular Atrophy Type 5

Dsma5

Young Adult-Onset Dhmn

Dhmn-V

Hmn V

Neuronopathy, Distal Hereditary Motor, Type 5a

Hmn 5a

Neuropathy, Distal Hereditary Motor, Type Va

Spinal Muscular Atrophy, Distal, Type Va

Spinal Muscular Atrophy, Distal, Type V

Distal Spinal Muscular Atrophy Type V

Distal Spinal Muscular Atrophy With Upper Limb Predominance

Distal Hereditary Motor Neuronopathy Type 5a

Distal Hmn Va

Distal Spinal Muscular Atrophy Type Va

Distal Hereditary Motor Neuropathy, Type V

Distal Hereditary Motor Neuronopathy, Type V

Distal Spinal Muscular Atrophy, Type V

Spinal Muscular Atrophy, Distal Type V

Distal Hereditary Motor Neuropathy Type 5

Neuronopathy, Distal Hereditary Motor, 5a

Dhmn V

Distal Hereditary Motor Neuronopathy Type Va

Distal Hereditary Motor Neuropathy Type Va

Dsma-V

Hmn Va

Spinal Muscular Atrophy Distal Type V

Spinal Muscular Atrophy Distal Type Va

Spinal Muscular Atrophy Distal With Upper Limb Predominance

Neuropathy, Distal Hereditary Motor, Type V

Neuropathy, Motor, Distal, Hereditary, Type Va
Spastic Ataxia

Spax

Ataxia, Spastic
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-RS11814 REEP2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus REEP2 MGD MGI:2385070
Macaca mulatta REEP2 VGNC VGNC:76759
Rattus norvegicus REEP2 RGD RGD:1586980
Bos taurus REEP2 VGNC VGNC:33852
Canis familiaris REEP2 VGNC VGNC:45461
Felis catus REEP2 VGNC VGNC:97602