Human Gene TECPR2 (ENST00000359520.12_3) from GENCODE V45lift37
Description: Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA. (from RefSeq NM_014844) RefSeq Summary (NM_014844): The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. Gencode Transcript: ENST00000359520.12_3 Gencode Gene: ENSG00000196663.16_6 Transcript (Including UTRs) Position: hg19 chr14:102,829,278-102,968,814 Size: 139,537 Total Exon Count: 20 Strand: + Coding Region Position: hg19 chr14:102,843,059-102,964,594 Size: 121,536 Coding Exon Count: 19
ID:TCPR2_HUMAN DESCRIPTION: RecName: Full=Tectonin beta-propeller repeat-containing protein 2; AltName: Full=WD repeat-containing protein KIAA0329/KIAA0297; FUNCTION: Probably plays a role as positive regulator of autophagy. SUBUNIT: Interacts with the ATG8 family members GABARAP, GABARAPL1, GABARAPL2, MAP1LC3B and MAP1LC3C. INTERACTION: O15040; O95166: GABARAP; NbExp=2; IntAct=EBI-2946991, EBI-712001; O15040; Q9H0R8: GABARAPL1; NbExp=2; IntAct=EBI-2946991, EBI-746969; O15040; P60520: GABARAPL2; NbExp=2; IntAct=EBI-2946991, EBI-720116; O15040; Q9BXW4: MAP1LC3C; NbExp=2; IntAct=EBI-2946991, EBI-2603996; TISSUE SPECIFICITY: Detected in skin fibroblast (at protein level). DISEASE: Neuropathy, hereditary sensory and autonomic, 9, with developmental delay (HSAN9) [MIM:615031]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN9 is characterized by global developmental delay and intellectual disability, axial and appendicular hypotonia, dysarthria, and an abnormal gait that is often described as ataxic. Other features may include peripheral neuropathy, hyporeflexia, and autonomic dysfunction. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal. Note=The disease is caused by variants affecting the gene represented in this entry. SIMILARITY: Belongs to the WD repeat KIAA0329 family. SEQUENCE CAUTION: Sequence=BAA20787.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O15040
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Gene Ontology (GO) Annotations with Structured Vocabulary
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
