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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
  • 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. GO annotations related to this gene include taste receptor binding. An important paralog of this gene is REEP6.

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

Promoters for REEP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around REEP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for REEP2 Gene

Chromosome:
5
Start:
138,439,001 bp from pter
End:
138,446,969 bp from pter
Size:
7,969 bases
Orientation:
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:
    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

Proteomics data for REEP2 Gene at MOPED

Post-translational modifications for REEP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for REEP2 Gene

Antibody Products

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

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).
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for REEP2 Gene COMPARTMENTS Subcellular localization image for REEP2 gene
Compartment Confidence
cytoskeleton 5
endoplasmic reticulum 5
extracellular 5
plasma membrane 3
golgi apparatus 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for REEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with REEP2: view

Pathways & Interactions for REEP2 Gene

SuperPathways for REEP2 Gene

No Data Available

Interacting Proteins for REEP2 Gene

Gene Ontology (GO) - Biological Process for REEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 Pathways by source and 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:

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 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, MOPED, and MaxQB for REEP2 Gene



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).
genes like me logo Genes that share expression patterns with REEP2: view

Protein tissue co-expression partners for REEP2 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia REEP2 35
  • 92.39 (n)
  • 94.49 (a)
REEP2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia REEP2 35
  • 90.42 (n)
  • 94.09 (a)
REEP2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Reep2 35
  • 89.24 (n)
  • 92.91 (a)
Reep2 16
Reep2 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia REEP2 35
  • 99.87 (n)
  • 100 (a)
REEP2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Reep2 35
  • 89.37 (n)
  • 92.91 (a)
oppossum
(Monodelphis domestica)
Mammalia REEP2 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves REEP2 35
  • 72.98 (n)
  • 82.26 (a)
REEP2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia REEP2 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia reep2 35
  • 68.77 (n)
  • 75.49 (a)
zebrafish
(Danio rerio)
Actinopterygii reep2 35
  • 67.99 (n)
  • 70.63 (a)
reep2 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42678 35
  • 67.45 (n)
  • 65.35 (a)
CG42678 36
  • 16 (a)
ManyToMany
CG5539 36
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T19C3.4 35
  • 55.63 (n)
  • 56.29 (a)
T19C3.4 36
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOP1 36
  • 20 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4348 35
Species with no ortholog for REEP2:
  • 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 Sequence Context AA Info Type
VAR_070996 Spastic paraplegia 72 (SPG72)
VAR_070997 Spastic paraplegia 72 (SPG72)
rs982085 -- 138,439,892(-) GCCAC(C/G)GAGCG intron-variant
rs1046576 -- 138,446,646(+) CTCCC(A/G)TGCTC nc-transcript-variant, utr-variant-3-prime
rs2240330 -- 138,444,942(-) AGGGT(A/G)GATGC 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)

Relevant External Links for REEP2 Gene

HapMap Linkage Disequilibrium report
REEP2
Human Gene Mutation Database (HGMD)
REEP2

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

Disorders for REEP2 Gene

MalaCards: The human disease database

(4) 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
  • spastic paraplegia 72, autosomal recessive
autosomal spastic paraplegia type 72
  • spastic paraplegia 72, autosomal recessive
neuropathy, congenital hypomyelinating
  • dejerine-sottas disease
- 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.

Relevant External Links for REEP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Am. J. Hum. Genet. 2013) 2 3 4 67
  2. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. (PMID: 16271481) Clark A.J. … Huebner A. (Trends Endocrinol. Metab. 2005) 2 3
  3. RTP family members induce functional expression of mammalian odorant receptors. (PMID: 15550249) Saito H. … Matsunami H. (Cell 2004) 2 3
  4. REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues. (PMID: 24355597) Hurt C.M. … Angelotti T. (Brain Res. 2014) 3
  5. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 3

Products for REEP2 Gene

Sources for REEP2 Gene

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