REEP2 - receptor accessory protein 2 Gene

Also Known as SPG72; Yip2d; C5orf19; SGC32445

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51308

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in endoplasmic reticulum tubular network organization	IMP IMP: Inferred from mutant phenotype	24388663	GOA

Cellular Component GO Annotation	Evidence	References	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

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	References
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
HY-P82105A	REEP2 Antibody (YA1850)(PBS only)	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

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 Set	/	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
Others	REEP2	NCBI