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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 31, Autosomal Dominant. Among its related pathways are Signaling by GPCR and Olfactory Signaling Pathway. Gene Ontology (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

Additional gene information for REEP2 Gene

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

Genomics for REEP2 Gene

GeneHancer (GH) Regulatory Elements for REEP2 Gene

Promoters and enhancers for REEP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I138438 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 560.3 +0.3 341 1.9 RB1 ZFP64 ZEB1 ZNF335 ZNF23 GLIS2 ZNF366 ZNF391 BCLAF1 EGR2 REEP2 SNORD63B SNORD63 HSPA9 GC05P138442 GC05M138244
GH05I138335 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19 -101.5 -101461 5 CLOCK ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 CDC25C FAM53C HNRNPA0 KDM3B RPL7P19 CDC23 REEP2 MATR3 NME5 SPOCK1
GH05I138752 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.4 +315.1 315109 3.4 SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B IRF4 LOC105379194 CTNNA1 MATR3 REEP2 DNAJC18 LRRTM2 HSPA9 GC05P138766
GH05I138458 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.8 +20.5 20459 2 ELF3 PKNOX1 MLX ARID4B DNMT3B ZSCAN9 RARA SLC30A9 ATF7 CREM GC05M138244 REEP2 SNORD63B SNORD63 HSPA9 LRRTM2 CDC25C FAM53C FAM13B ETF1
GH05I138463 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.6 +26.2 26248 4.1 CLOCK IRF4 YY1 E2F8 ZNF143 SP3 SSRP1 ZNF610 ZNF585B GLIS1 EGR1 HNRNPA0 CDC23 KDM3B BRD8 RPL7P19 ETF1 FAM13B FAM53C REEP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around REEP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the REEP2 gene promoter:

Genomic Locations for REEP2 Gene

Genomic Locations for REEP2 Gene
chr5:138,439,001-138,446,969
(GRCh38/hg38)
Size:
7,969 bases
Orientation:
Plus strand
chr5:137,774,706-137,782,658
(GRCh37/hg19)

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:
    Q9BRK0-REEP2_HUMAN
    Recommended name:
    Receptor expression-enhancing protein 2
    Protein Accession:
    Q9BRK0
    Secondary Accessions:
    • Q53EM8
    • Q9NYF2

    Protein attributes for REEP2 Gene

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

    Alternative splice isoforms for REEP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REEP2 Gene

Post-translational modifications for REEP2 Gene

No Post-translational modifications

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for REEP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BRK0

UniProtKB/Swiss-Prot:

REEP2_HUMAN :
  • Belongs to the DP1 family.
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).

Phenotypes From GWAS Catalog for REEP2 Gene

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

Clone 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

COMPARTMENTS
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for REEP2 Gene

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

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

Drugs & Compounds for REEP2 Gene

No Compound Related Data Available

Transcripts for REEP2 Gene

Unigene Clusters for REEP2 Gene

Receptor accessory protein 2:
Representative Sequences:

Clone 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: - - -
SP9:

Relevant External Links for REEP2 Gene

GeneLoc Exon Structure for
REEP2
ECgene alternative splicing isoforms for
REEP2

Expression for REEP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:

REEP2

SOURCE GeneReport for Unigene cluster for REEP2 Gene:

Hs.416090

mRNA Expression by UniProt/SwissProt for REEP2 Gene:

Q9BRK0-REEP2_HUMAN
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).

Evidence on tissue expression from TISSUES for REEP2 Gene

  • Nervous system(4.9)
  • Lung(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for REEP2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • head
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
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
chimpanzee
(Pan troglodytes)
Mammalia REEP2 33 34
  • 99.87 (n)
cow
(Bos Taurus)
Mammalia REEP2 33 34
  • 92.39 (n)
dog
(Canis familiaris)
Mammalia REEP2 33 34
  • 90.42 (n)
rat
(Rattus norvegicus)
Mammalia Reep2 33
  • 89.37 (n)
mouse
(Mus musculus)
Mammalia Reep2 33 16 34
  • 89.24 (n)
oppossum
(Monodelphis domestica)
Mammalia REEP2 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves REEP2 33 34
  • 72.98 (n)
lizard
(Anolis carolinensis)
Reptilia REEP2 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia reep2 33
  • 68.77 (n)
zebrafish
(Danio rerio)
Actinopterygii reep2 33 34
  • 67.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42678 33 34
  • 67.45 (n)
CG5539 34
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T19C3.4 33 34
  • 55.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOP1 34
  • 20 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4348 33
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

ENSEMBL:
Gene Tree for REEP2 (if available)
TreeFam:
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 Variation AA Info Type
rs483352923 pathogenic, Spastic paraplegia 72, autosomal dominant, Spastic paraplegia 72 (SPG72) [MIM:615625] 138,441,386(+) T/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs483352924 pathogenic, Spastic paraplegia 72, autosomal recessive 138,441,091(+) G/T intron_variant
rs483352925 pathogenic, Spastic paraplegia 72, autosomal recessive, Spastic paraplegia 72 (SPG72) [MIM:615625] 138,444,447(+) T/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000287762 -- 138,437,319(+) G/C upstream_transcript_variant
rs1000377284 -- 138,444,606(+) A/G intron_variant

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

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

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)

Additional Variant Information for REEP2 Gene

Human Gene Mutation Database (HGMD)
REEP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
REEP2

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 72, autosomal recessive
  • spg72
spastic paraplegia 31, autosomal dominant
  • spg31
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search REEP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

REEP2_HUMAN
  • 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.

Additional Disease Information for REEP2

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 (American journal of human genetics 2014) 2 3 4 58
  2. RTP family members induce functional expression of mammalian odorant receptors. (PMID: 15550249) Saito H … Matsunami H (Cell 2004) 2 3 4 58
  3. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. (PMID: 16271481) Clark AJ … Huebner A (Trends in endocrinology and metabolism: TEM 2005) 2 3 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  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 MM (Genomics 2001) 3 4 58

Products for REEP2 Gene

Sources for REEP2 Gene

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