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Aliases for REEP2 Gene

Aliases for REEP2 Gene

  • Receptor Accessory Protein 2 2 3 5
  • SGC32445 3 4
  • C5orf19 3 4
  • Receptor Expression-Enhancing Protein 2 3
  • Chromosome 5 Open Reading Frame 19 2
  • SPG72 3
  • Yip2d 3

External Ids for REEP2 Gene

Previous HGNC Symbols for REEP2 Gene

  • C5orf19

Previous GeneCards Identifiers for REEP2 Gene

  • GC05P137803
  • GC05P137774
  • GC05P132965

Summaries for REEP2 Gene

Entrez Gene Summary for REEP2 Gene

  • 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]

GeneCards Summary for REEP2 Gene

REEP2 (Receptor Accessory Protein 2) is a Protein Coding gene. Diseases associated with REEP2 include Spastic Paraplegia 72, Autosomal Recessive and Spastic Paraplegia 72. Among its related pathways are Signaling by GPCR and Olfactory Signaling Pathway. GO annotations related to this gene include taste receptor binding. An important paralog of this gene is REEP4.

UniProtKB/Swiss-Prot for REEP2 Gene

  • Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity).

Gene Wiki entry for REEP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REEP2 Gene

Genomics for REEP2 Gene

Regulatory Elements for REEP2 Gene

Enhancers for REEP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F138458 1.6 FANTOM5 Ensembl ENCODE 19.5 +21.0 21000 4.0 ELF3 PKNOX1 ATF1 MLX ARID4B FEZF1 ZSCAN9 DNMT3B RARA SLC30A9 REEP2 ENSG00000222937 SNORD63 HSPA9 LRRTM2 CDC25C FAM53C FAM13B ETF1 EGR1
GH05F138449 1.6 FANTOM5 Ensembl ENCODE 8 +11.1 11076 1.0 HDGF ATF1 SIN3A ARID4B ZNF48 ZNF2 GLIS2 ZNF143 ZNF207 DEK REEP2 LRRTM2 NME5 WNT8A ENSG00000271196 GC05P138442
GH05F138350 1.4 Ensembl ENCODE 7.7 -86.1 -86063 5.5 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 CBX5 ZNF143 FOS HNRNPA0 CDC23 KDM3B FAM53C RPL7P19 EGR1 BRD8 KIF20A GFRA3 REEP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around REEP2 on UCSC Golden Path with GeneCards custom track

Promoters for REEP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001874201 299 1001 ZFP64 ZNF23 GLIS2 EGR1 ZNF391 EGR2 REST ZNF623 ZFP69B ZNF341

Genomic Location for REEP2 Gene

138,439,001 bp from pter
138,446,969 bp from pter
7,969 bases
Plus strand

Genomic View for REEP2 Gene

Genes around REEP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REEP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REEP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REEP2 Gene

Proteins for REEP2 Gene

  • Protein details for REEP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Receptor expression-enhancing protein 2
    Protein Accession:
    Secondary Accessions:
    • Q53EM8
    • Q9NYF2

    Protein attributes for REEP2 Gene

    252 amino acids
    Molecular mass:
    28261 Da
    Quaternary structure:
    • Interacts with odorant receptor proteins.
    • Sequence=AAF63767.1; Type=Frameshift; Positions=171; Evidence={ECO:0000305};

    Alternative splice isoforms for REEP2 Gene


neXtProt entry for REEP2 Gene

Post-translational modifications for REEP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for REEP2 Gene

No data available for DME Specific Peptides for REEP2 Gene

Domains & Families for REEP2 Gene

Gene Families for REEP2 Gene

Protein Domains for REEP2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DP1 family.
  • Belongs to the DP1 family.
genes like me logo Genes that share domains with REEP2: view

Function for REEP2 Gene

Molecular function for REEP2 Gene

UniProtKB/Swiss-Prot Function:
Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity).

Gene Ontology (GO) - Molecular Function for REEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031883 taste receptor binding IEA --
genes like me logo Genes that share ontologies with REEP2: view
genes like me logo Genes that share phenotypes with REEP2: view

Human Phenotype Ontology for REEP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for REEP2 Gene

Localization for REEP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REEP2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for REEP2 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for REEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IMP 24388663
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005881 cytoplasmic microtubule IDA 23264731
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with REEP2: view

Pathways & Interactions for REEP2 Gene

genes like me logo Genes that share pathways with REEP2: view

Pathways by source for REEP2 Gene

Interacting Proteins for REEP2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
Selected Interacting proteins: ENSP00000254901 Q9BRK0-REEP2_HUMAN for REEP2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for REEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032386 regulation of intracellular transport IEA --
GO:0032596 protein transport into membrane raft IEA --
GO:0050913 sensory perception of bitter taste IEA --
GO:0050916 sensory perception of sweet taste IEA --
GO:0071786 endoplasmic reticulum tubular network organization IMP 24388663
genes like me logo Genes that share ontologies with REEP2: view

No data available for SIGNOR curated interactions for REEP2 Gene

Transcripts for REEP2 Gene

Unigene Clusters for REEP2 Gene

Receptor accessory protein 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for REEP2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c
SP1: - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5: - - - -
SP6: - -
SP7: - -
SP8: - - -

Relevant External Links for REEP2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for REEP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for REEP2 Gene

mRNA differential expression in normal tissues according to GTEx for REEP2 Gene

This gene is overexpressed in Brain - Cortex (x5.1), Brain - Frontal Cortex (BA9) (x4.2), and Brain - Cerebellum (x4.2).

Protein differential expression in normal tissues from HIPED for REEP2 Gene

This gene is overexpressed in Fetal Brain (38.6) and Brain (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for REEP2 Gene

Protein tissue co-expression partners for REEP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of REEP2 Gene:


SOURCE GeneReport for Unigene cluster for REEP2 Gene:


mRNA Expression by UniProt/SwissProt for REEP2 Gene:

Tissue specificity: Detected in brain, heart and skeletal muscle, and at low levels in placenta, kidney and pancreas (PubMed:11161817). Expressed in circumvallate papillae (PubMed:16720576).
genes like me logo Genes that share expression patterns with REEP2: view

Orthologs for REEP2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for REEP2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia REEP2 34 35
  • 99.87 (n)
(Bos Taurus)
Mammalia REEP2 34 35
  • 92.39 (n)
(Canis familiaris)
Mammalia REEP2 34 35
  • 90.42 (n)
(Rattus norvegicus)
Mammalia Reep2 34
  • 89.37 (n)
(Mus musculus)
Mammalia Reep2 34 16 35
  • 89.24 (n)
(Monodelphis domestica)
Mammalia REEP2 35
  • 86 (a)
(Gallus gallus)
Aves REEP2 34 35
  • 72.98 (n)
(Anolis carolinensis)
Reptilia REEP2 35
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia reep2 34
  • 68.77 (n)
(Danio rerio)
Actinopterygii reep2 34 35
  • 67.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42678 34 35
  • 67.45 (n)
CG5539 35
  • 17 (a)
(Caenorhabditis elegans)
Secernentea T19C3.4 34 35
  • 55.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOP1 35
  • 20 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4348 34
Species where no ortholog for REEP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for REEP2 Gene

Gene Tree for REEP2 (if available)
Gene Tree for REEP2 (if available)

Paralogs for REEP2 Gene

Paralogs for REEP2 Gene

(5) SIMAP similar genes for REEP2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with REEP2: view

Variants for REEP2 Gene

Sequence variations from dbSNP and Humsavar for REEP2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs483352923 Spastic paraplegia 72 (SPG72) [MIM:615625], Pathogenic 138,441,386(+) TCAGG(A/T)GAAAT nc-transcript-variant, reference, missense
rs483352925 Spastic paraplegia 72 (SPG72) [MIM:615625], Pathogenic 138,444,447(+) CGCCT(A/T)CGTGA nc-transcript-variant, reference, missense
rs483352924 Pathogenic 138,441,091(+) TATGT(G/T)AGTGG intron-variant
rs10059681 -- 138,437,180(+) GTTAG(A/G)AAAAA downstream-variant-500B, upstream-variant-2KB
rs1046576 -- 138,446,646(+) CTCCC(A/G)TGCTC nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for REEP2 Gene

Variant ID Type Subtype PubMed ID
nsv528851 CNV loss 19592680
nsv5024 CNV insertion 18451855

Variation tolerance for REEP2 Gene

Residual Variation Intolerance Score: 22.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for REEP2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REEP2 Gene

Disorders for REEP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for REEP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 72, autosomal recessive
  • spastic paraplegia 72, autosomal dominant
spastic paraplegia 72
  • spg72
neuropathy, congenital hypomyelinating
  • neuropathy, congenital hypomyelinating, 1
- elite association - COSMIC cancer census association via MalaCards
Search REEP2 in MalaCards View complete list of genes associated with diseases


  • Spastic paraplegia 72 (SPG72) [MIM:615625]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG72 is a pure form of spastic paraplegia with onset of difficulty walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Some patients may have pes cavus or sphincter disturbances. Cognition, speech, and ocular function are normal. SPG72 inheritance is autosomal dominant or recessive. {ECO:0000269 PubMed:24388663}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for REEP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with REEP2: view

No data available for Genatlas for REEP2 Gene

Publications for REEP2 Gene

  1. Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia. (PMID: 24388663) Esteves T. … Darios F. (Am. J. Hum. Genet. 2013) 2 3 4 64
  2. RTP family members induce functional expression of mammalian odorant receptors. (PMID: 15550249) Saito H. … Matsunami H. (Cell 2004) 2 3 4 64
  3. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. (PMID: 16271481) Clark A.J. … Huebner A. (Trends Endocrinol. Metab. 2005) 2 3 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Transcript map and comparative analysis of the 1.5-Mb commonly deleted segment of human 5q31 in malignant myeloid diseases with a del(5q). (PMID: 11161817) Lai F. … Le Beau M.M. (Genomics 2001) 3 4 64

Products for REEP2 Gene

Sources for REEP2 Gene

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