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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
REEP2
receptor accessory protein 2
Chromosome 5 Β· 5q31.2
NCBI Gene: 51308Ensembl: ENSG00000132563.18HGNC: HGNC:17975UniProt: A8K3D2
36PubMed Papers
22Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingendoplasmic reticulum tubular network organizationcytoplasmic microtubuleendoplasmic reticulumAutosomal recessive spastic paraplegia type 72hereditary spastic paraplegia 72atrial fibrillationspastic paraplegia 72b, autosomal recessive
✦AI Summary

REEP2 (receptor accessory protein 2) is a membrane-shaping protein primarily required for endoplasmic reticulum (ER) network formation and remodeling 12. REEP2 belongs to the REEP1-4 subfamily and generates membrane curvature to create a unique ER-derived vesicular compartment that cycles back to the ER via atlastin-mediated fusion 1. The protein exhibits tissue-specific expression, being preferentially found in neuronal tissues (brain, spinal cord) and neuronal-like exocytotic tissues (testes, pituitary, adrenal gland) 3. Under DNA damage conditions, REEP2 expression is transcriptionally upregulated by p53, promoting ER tubular extension and facilitating ER-mitochondria contacts that enhance calcium transfer and apoptosis 4. Disease-causing mutations in REEP2 lead to hereditary spastic paraplegia (SPG72) through both autosomal dominant and recessive mechanisms 56. Dominant mutations like p.Val36Glu act through a dominant-negative effect, preventing wild-type REEP2 membrane association, while recessive mutations like p.Phe72Tyr reduce membrane affinity 5. The neuronal-specific expression pattern of REEP2 aligns with the motor neuron degeneration observed in SPG72 patients 3.

Sources cited
1
REEP2 generates membrane curvature and creates ER-derived vesicular compartments that cycle back to ER
PMID: 39368994
2
REEP2 is involved in ER morphogenesis and remodeling as part of the REEP1-4 subfamily
PMID: 36191880
3
REEP2 protein expression is restricted to neuronal and neuronal-like exocytotic tissues
PMID: 24355597
4
REEP2 is transcriptionally activated by p53 during DNA damage and promotes ER-mitochondria signaling
PMID: 30030520
5
REEP2 mutations cause hereditary spastic paraplegia through different dominant and recessive mechanisms
PMID: 24388663
6
REEP2 mutations cause SPG72 with autosomal dominant inheritance patterns
PMID: 33526816
Disease Associationsβ“˜22
Autosomal recessive spastic paraplegia type 72Open Targets
0.70Strong
hereditary spastic paraplegia 72Open Targets
0.70Strong
atrial fibrillationOpen Targets
0.48Moderate
spastic paraplegia 72b, autosomal recessiveOpen Targets
0.43Moderate
hypertensionOpen Targets
0.29Weak
heart diseaseOpen Targets
0.23Weak
hereditary retinoblastomaOpen Targets
0.23Weak
retinoblastoma (nonhereditary)Open Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
bone osteosarcomaOpen Targets
0.18Weak
osteosarcomaOpen Targets
0.18Weak
retinoblastomaOpen Targets
0.18Weak
small cell lung carcinomaOpen Targets
0.18Weak
trilateral retinoblastomaOpen Targets
0.18Weak
urinary bladder cancerOpen Targets
0.18Weak
Abnormality of the skeletal systemOpen Targets
0.11Weak
smoking initiationOpen Targets
0.09Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
mixed connective tissue diseaseOpen Targets
0.03Suggestive
Spastic paraplegia 72A, autosomal dominantUniProt
Spastic paraplegia 72B, autosomal recessiveUniProt
Pathogenic Variants7
NM_001271803.2(REEP2):c.119T>G (p.Met40Arg)Pathogenic
Hereditary spastic paraplegia 72
β˜…β˜…β˜†β˜†2022β†’ Residue 40
NM_001271803.2(REEP2):c.523C>T (p.Arg175Ter)Likely pathogenic
Hereditary spastic paraplegia 72
β˜…β˜†β˜†β˜†2020β†’ Residue 175
NM_001271803.2(REEP2):c.331C>T (p.Arg111Ter)Likely pathogenic
Hereditary spastic paraplegia 72
β˜…β˜†β˜†β˜†2019β†’ Residue 111
NM_001271803.2(REEP2):c.696+2T>GLikely pathogenic
Hereditary spastic paraplegia 72
β˜…β˜†β˜†β˜†2019
NM_001271803.2(REEP2):c.107T>A (p.Val36Glu)Pathogenic
Hereditary spastic paraplegia 72
β˜†β˜†β˜†β˜†2014β†’ Residue 36
NM_001271803.2(REEP2):c.105+3G>TPathogenic
Spastic paraplegia 72b, autosomal recessive
β˜†β˜†β˜†β˜†2014
NM_001271803.2(REEP2):c.215T>A (p.Phe72Tyr)Pathogenic
Spastic paraplegia 72b, autosomal recessive
β˜†β˜†β˜†β˜†2014β†’ Residue 72
View on ClinVar β†—
Related Genes
RTN2Protein interaction76%ATL1Protein interaction76%REEP4Protein interaction59%REEP1Protein interaction58%TMEM170AShared pathway33%REEP3Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Heart
19%
Ovary
10%
Bone Marrow
1%
Lung
1%
Liver
1%
Gene Interaction Network
Click a node to explore
REEP2RTN2ATL1REEP4REEP1TMEM170AREEP3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BRK0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.49Moderately Constrained
pLIβ“˜
0.99Intolerant
Observed/Expected LoF0.28 [0.17–0.49]
RankingsWhere REEP2 stands among ~20K protein-coding genes
  • #10,850of 20,598
    Most Researched36
  • #3,240of 5,498
    Most Pathogenic Variants7
  • #2,871of 17,882
    Most Constrained (LOEUF)0.49 Β· top quartile
Genes detectedREEP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The membrane curvature-inducing REEP1-4 proteins generate an ER-derived vesicular compartment.
PMID: 39368994
Nat Commun Β· 2024
1.00
2
The REEP family of proteins: Molecular targets and role in pathophysiology.
PMID: 36191880
Pharmacol Res Β· 2022
0.90
3
M6A-mediated molecular patterns and tumor microenvironment infiltration characterization in nasopharyngeal carcinoma.
PMID: 38532632
Cancer Biol Ther Β· 2024
0.80
4
REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues.
PMID: 24355597
Brain Res Β· 2014
0.70
5
DNA damage triggers tubular endoplasmic reticulum extension to promote apoptosis by facilitating ER-mitochondria signaling.
PMID: 30030520
Cell Res Β· 2018
0.60