InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TECPR2

Summary

InnateDB Protein

IDBP-21134.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TECPR2

Protein Name

tectonin beta-propeller repeat containing 2

Synonyms

KIAA0329; SPG49;

Species

Homo sapiens

Ensembl Protein

ENSP00000352510

InnateDB Gene

IDBG-21132 (TECPR2)

Protein Structure

UniProt Annotation

Function

Probably plays a role as positive regulator of autophagy. {ECO:0000269PubMed:23176824}.

Subcellular Localization

Disease Associations

Spastic paraplegia 49, autosomal recessive (SPG49) [MIM:615031]: 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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG49 is characterized by delayed psychomotor development, mental retardation, and onset of spastic paraplegia in the first decade. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal. {ECO:0000269PubMed:23176824}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in skin fibroblast (at protein level). {ECO:0000269PubMed:23176824}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0006914	autophagy
GO:0008219	cell death

Cellular Component

Protein Structure and Domains

PDB ID

InterPro

IPR001680 WD40 repeat
IPR006624 Beta-propeller repeat TECPR
IPR009091 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
IPR017986 WD40-repeat-containing domain

PFAM

PF00400
PF06462

PRINTS

PIRSF

SMART

SM00320
SM00706

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O15040