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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TECPR2
tectonin beta-propeller repeat containing 2
Chromosome 14 Β· 14q32.31
NCBI Gene: 9895Ensembl: ENSG00000196663.17HGNC: HGNC:19957UniProt: O15040
30PubMed Papers
21Diseases
0Drugs
126Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein exit from endoplasmic reticulumcytoplasmhereditary spastic paraplegia 49Autosomal recessive spastic paraplegia type 49Spastic paraplegiahereditary spastic paraplegia
✦AI Summary

TECPR2 (tectonin beta-propeller repeat containing 2) is a protein localized to chromosome 14 that functions as a positive regulator of autophagy [UniProt annotation]. The protein is involved in protein exit from the endoplasmic reticulum, suggesting a role in cellular protein trafficking and quality control mechanisms. Mutations in TECPR2 cause hereditary sensory and autonomic neuropathy 9 with developmental delay, indicating critical functions in neuronal development and maintenance. Given TECPR2's role in autophagy regulation, its disease association is mechanistically relevant, as autophagy dysfunction has been implicated in numerous human pathologies 1. Autophagy serves as a cellular safeguard mechanism, including the autophagic disposal of damaged mitochondria to prevent inflammatory responses 2. The loss of TECPR2 function likely impairs this protective autophagy pathway, potentially leading to accumulation of cellular damage and neuroinflammation. The developmental delay phenotype suggests TECPR2 is particularly essential during neurogenesis and axonal development, where efficient protein quality control and mitochondrial homeostasis are critical. Understanding TECPR2's specific autophagy-regulatory mechanisms may provide insights into neuropathy pathogenesis and potentially identify therapeutic targets for hereditary sensory and autonomic neuropathies.

Sources cited
1
Autophagy dysfunction causes severe human pathologies across multiple disease categories including neurodegenerative disorders
PMID: 34459017
2
Autophagic disposal of permeabilized mitochondria is a cellular safeguard mechanism to prevent inflammatory reactions
PMID: 35879417
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
hereditary spastic paraplegia 49Open Targets
0.78Strong
Autosomal recessive spastic paraplegia type 49Open Targets
0.71Strong
Spastic paraplegiaOpen Targets
0.69Moderate
hereditary spastic paraplegiaOpen Targets
0.60Moderate
genetic disorderOpen Targets
0.42Moderate
autismOpen Targets
0.33Weak
allergic rhinitisOpen Targets
0.32Weak
brain cancerOpen Targets
0.28Weak
nervous system cancerOpen Targets
0.28Weak
benign soft tissue neoplasmOpen Targets
0.17Weak
intellectual disability, FRA12A typeOpen Targets
0.12Weak
microcephalyOpen Targets
0.11Weak
attention deficit hyperactivity disorderOpen Targets
0.04Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
amyotrophic lateral sclerosis type 4Open Targets
0.04Suggestive
DNA methylationOpen Targets
0.04Suggestive
schizophrenia 15Open Targets
0.04Suggestive
Autosomal dominant intermediate Charcot-Marie-Tooth disease type BOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease dominant intermediate BOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease axonal type 2POpen Targets
0.04Suggestive
Neuropathy, hereditary sensory and autonomic, 9, with developmental delayUniProt
Pathogenic Variants126
NM_014844.5(TECPR2):c.1944_1947del (p.Thr649fs)Pathogenic
not provided|Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2026β†’ Residue 649
NM_014844.5(TECPR2):c.1084+2T>CLikely pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2026
NM_014844.5(TECPR2):c.1319del (p.Leu440fs)Pathogenic
Hereditary spastic paraplegia 49|not provided|Hereditary spastic paraplegia
β˜…β˜…β˜†β˜†2026β†’ Residue 440
NM_014844.5(TECPR2):c.2093G>A (p.Trp698Ter)Pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2025β†’ Residue 698
NM_014844.5(TECPR2):c.1418-2A>GLikely pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2025
NM_014844.5(TECPR2):c.1318_1319del (p.Leu440fs)Pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2025β†’ Residue 440
NM_014844.5(TECPR2):c.3863G>A (p.Trp1288Ter)Pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2025β†’ Residue 1288
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs)Pathogenic
Hereditary spastic paraplegia 49|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1139
NM_014844.5(TECPR2):c.774del (p.Asp259fs)Pathogenic
not provided|Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2025β†’ Residue 259
NM_014844.5(TECPR2):c.3508_3532dup (p.Gln1178fs)Pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2025β†’ Residue 1178
NM_014844.5(TECPR2):c.3072G>A (p.Trp1024Ter)Pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2025β†’ Residue 1024
NM_014844.5(TECPR2):c.25dup (p.Thr9fs)Pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2025β†’ Residue 9
NM_014844.5(TECPR2):c.3787del (p.Gln1263fs)Pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2024β†’ Residue 1263
NM_014844.5(TECPR2):c.3830del (p.Asn1277fs)Pathogenic
Sensory autonomic neuropathy with intellectual disability|Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2024β†’ Residue 1277
NM_014844.5(TECPR2):c.3565C>T (p.Gln1189Ter)Pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2024β†’ Residue 1189
NM_014844.5(TECPR2):c.35_36del (p.Glu12fs)Pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2024β†’ Residue 12
NM_014844.5(TECPR2):c.675_676del (p.Leu225_Cys226insTer)Pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2024β†’ Residue 225
NM_014844.5(TECPR2):c.2753-1G>ALikely pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2024
NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter)Pathogenic
Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2024β†’ Residue 191
NM_014844.5(TECPR2):c.2495_2498dup (p.Cys834fs)Pathogenic
not provided|Hereditary spastic paraplegia 49
β˜…β˜…β˜†β˜†2023β†’ Residue 834
View on ClinVar β†—
Related Genes
VPS16Protein interaction100%AP5Z1Protein interaction100%GABARAPL1Protein interaction95%MAP1LC3BProtein interaction87%MAP1LC3CProtein interaction82%VPS41Protein interaction79%
Tissue Expression6 tissues
Brain
100%
Heart
75%
Ovary
51%
Lung
51%
Liver
34%
Bone Marrow
31%
Gene Interaction Network
Click a node to explore
TECPR2VPS16AP5Z1GABARAPL1MAP1LC3BMAP1LC3CVPS41
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O15040
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.61LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.50 [0.41–0.61]
RankingsWhere TECPR2 stands among ~20K protein-coding genes
  • #12,056of 20,598
    Most Researched30
  • #625of 5,498
    Most Pathogenic Variants126 Β· top quartile
  • #4,205of 17,882
    Most Constrained (LOEUF)0.61 Β· top quartile
Genes detectedTECPR2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mitochondrial control of inflammation.
PMID: 35879417
Nat Rev Immunol Β· 2023
1.00
2
Autophagy in major human diseases.
PMID: 34459017
EMBO J Β· 2021
0.90
3
Meta-hallmarks of aging and cancer.
PMID: 36599298
Cell Metab Β· 2023
0.80
4
The hallmarks of cancer immune evasion.
PMID: 39393356
Cancer Cell Β· 2024
0.70
5
Cancer cell metabolism and antitumour immunity.
PMID: 38649722
Nat Rev Immunol Β· 2024
0.60