REEP2

Protein identityUniProt · HPA

UniProt accession

Q9BRK0

Gene

REEP2

Ensembl

ENSG00000132563

Chromosome

5

Canonical length

252 aa

Protein class

Disease related genes, Human disease related genes, Predicted membrane proteins

Subcellular location

Endoplasmic reticulum

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

252 residues, UniProt reviewed canonical sequence.

>Q9BRK0|REEP2
     1  MVSWIISRLV VLIFGTLYPA YSSYKAVKTK NVKEYVKWMM YWIVFAFFTT AETLTDIVLS
    61  WFPFYFELKI AFVIWLLSPY TKGSSVLYRK FVHPTLSNKE KEIDEYITQA RDKSYETMMR
   121  VGKRGLNLAA NAAVTAAAKG VLSEKLRSFS MQDLTLIRDE DALPLQRPDG RLRPSPGSLL
   181  DTIEDLGDDP ALSLRSSTNP ADSRTEASED DMGDKAPKRA KPIKKAPKAE PLASKTLKTR
   241  PKKKTSGGGD SA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against REEP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.56

Highest tissue expression

142 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about REEP2.

Disease | AllUniProt

Conditions REEP2 is implicated in, by any mechanism.

• Spastic paraplegia 72A, autosomal dominant (SPG72A) MIM:615625
• Spastic paraplegia 72B, autosomal recessive (SPG72B) MIM:620606

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 159 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary spastic paraplegia 72
• Spastic paraplegia 72b, autosomal recessive

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.55

gnomAD pLI

0.44

gnomAD missense Z

1.64

DepMap mean gene effect

-0.19

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• endoplasmic reticulum tubular network organization
• protein transport into membrane raft
• sensory perception of bitter taste
• sensory perception of sweet taste

Molecular functions

• microtubule binding
• taste receptor binding

Cellular components

• cytoplasmic microtubule
• endoplasmic reticulum
• endoplasmic reticulum membrane
• endoplasmic reticulum tubular network
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• TB2/DP1/HVA22
• TB2/DP1, HVA22 family

KeywordsUniProt

• Hereditary spastic paraplegia
• Membrane
• Neurodegeneration
• Phosphoprotein
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of REEP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• REEP4