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Aliases for TECPR2 Gene

Aliases for TECPR2 Gene

  • Tectonin Beta-Propeller Repeat Containing 2 2 3
  • KIAA0329 2 3 4 6
  • SPG49 3 6
  • Tectonin Beta-Propeller Repeat-Containing Protein 2 3
  • WD Repeat-Containing Protein KIAA0329/KIAA0297 4
  • KIAA0297 4

External Ids for TECPR2 Gene

Previous Symbols for TECPR2 Gene

  • KIAA0329

Summaries for TECPR2 Gene

GeneCards Summary for TECPR2 Gene

TECPR2 (Tectonin Beta-Propeller Repeat Containing 2) is a Protein Coding gene. Diseases associated with TECPR2 include spastic paraplegia 49, autosomal recessive. An important paralog of this gene is HPS5.

UniProtKB/Swiss-Prot for TECPR2 Gene

  • Probably plays a role as positive regulator of autophagy.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TECPR2 Gene

Genomics for TECPR2 Gene

Genomic Location for TECPR2 Gene

Start:
102,362,963 bp from pter
End:
102,502,481 bp from pter
Size:
139,519 bases
Orientation:
Plus strand

Genomic View for TECPR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TECPR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TECPR2 Gene

Regulatory Elements for TECPR2 Gene

Proteins for TECPR2 Gene

  • Protein details for TECPR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15040-TCPR2_HUMAN
    Recommended name:
    Tectonin beta-propeller repeat-containing protein 2
    Protein Accession:
    O15040
    Secondary Accessions:
    • A5PKY3
    • A6NFY9
    • A7E2X3
    • H0YMM9
    • Q9UEG6

    Protein attributes for TECPR2 Gene

    Size:
    1411 amino acids
    Molecular mass:
    153848 Da
    Quaternary structure:
    • Interacts with the ATG8 family members GABARAP, GABARAPL1, GABARAPL2, MAP1LC3B and MAP1LC3C.
    SequenceCaution:
    • Sequence=BAA20787.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TECPR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TECPR2 Gene

Proteomics data for TECPR2 Gene at MOPED

Post-translational modifications for TECPR2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TECPR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TECPR2 Gene

Domains for TECPR2 Gene

UniProtKB/Swiss-Prot:

TCPR2_HUMAN
Family:
  • Belongs to the WD repeat KIAA0329 family.:
    • O15040
Similarity:
  • Contains 6 TECPR repeats.:
    • O15040
  • Contains 7 WD repeats.:
    • O15040
genes like me logo Genes that share domains with TECPR2: view

No data available for Gene Families for TECPR2 Gene

Function for TECPR2 Gene

Molecular function for TECPR2 Gene

UniProtKB/Swiss-Prot Function: Probably plays a role as positive regulator of autophagy.

Gene Ontology (GO) - Molecular Function for TECPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20562859
genes like me logo Genes that share ontologies with TECPR2: view

miRNA for TECPR2 Gene

miRTarBase miRNAs that target TECPR2

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for TECPR2 Gene

Localization for TECPR2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TECPR2 Gene COMPARTMENTS Subcellular localization image for TECPR2 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for TECPR2 Gene

Pathways for TECPR2 Gene

SuperPathways for TECPR2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TECPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0008219 cell death --
genes like me logo Genes that share ontologies with TECPR2: view

No data available for Pathways by source for TECPR2 Gene

Transcripts for TECPR2 Gene

Unigene Clusters for TECPR2 Gene

Tectonin beta-propeller repeat containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TECPR2 Gene

No ASD Table

Relevant External Links for TECPR2 Gene

GeneLoc Exon Structure for
TECPR2
ECgene alternative splicing isoforms for
TECPR2

Expression for TECPR2 Gene

mRNA expression in normal human tissues for TECPR2 Gene

mRNA differential expression in normal tissues according to GTEx for TECPR2 Gene

This gene is overexpressed in Whole Blood (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TECPR2 Gene

SOURCE GeneReport for Unigene cluster for TECPR2 Gene Hs.195667

mRNA Expression by UniProt/SwissProt for TECPR2 Gene

O15040-TCPR2_HUMAN
Tissue specificity: Detected in skin fibroblast (at protein level).
genes like me logo Genes that share expressions with TECPR2: view

Orthologs for TECPR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TECPR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TECPR2 36
  • 96.41 (n)
  • 95.86 (a)
TECPR2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TECPR2 36
  • 82.11 (n)
  • 83.04 (a)
TECPR2 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TECPR2 36
  • 86.39 (n)
  • 86.74 (a)
TECPR2 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tecpr2 36
  • 83.03 (n)
  • 82.7 (a)
Tecpr2 16
Tecpr2 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TECPR2 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TECPR2 37
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tecpr2 36
  • 82.73 (n)
  • 83.23 (a)
chicken
(Gallus gallus)
Aves TECPR2 36
  • 70.36 (n)
  • 73.5 (a)
TECPR2 37
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TECPR2 37
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tecpr2 36
  • 64.82 (n)
  • 66.32 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.25330 36
tecpr2 36
  • 64.1 (n)
  • 65.38 (a)
tecpr2 37
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11141 37
  • 23 (a)
OneToOne
Species with no ortholog for TECPR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TECPR2 Gene

ENSEMBL:
Gene Tree for TECPR2 (if available)
TreeFam:
Gene Tree for TECPR2 (if available)

Paralogs for TECPR2 Gene

Paralogs for TECPR2 Gene

genes like me logo Genes that share paralogs with TECPR2: view

Variants for TECPR2 Gene

Sequence variations from dbSNP and Humsavar for TECPR2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs762106 -- 102,373,201(+) TTTCT(C/T)TCTTT intron-variant
rs877105 -- 102,420,220(-) CCTCA(C/T)TGATT intron-variant
rs1005776 -- 102,430,336(-) TCCAA(C/T)AGGCA intron-variant
rs1044502 -- 102,499,560(+) TCTGC(A/G)GGGTA utr-variant-3-prime
rs1044503 -- 102,499,659(+) CTGGC(A/G)TCTGC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TECPR2 Gene

Variant ID Type Subtype PubMed ID
esv2671371 CNV Deletion 23128226
esv2749150 CNV Deletion 23290073
esv5763 CNV Gain 19470904
nsv832880 CNV Loss 17160897
nsv470671 CNV Gain 18288195
dgv263n27 CNV Gain 19166990
nsv902255 CNV Loss 21882294
esv2676040 CNV Deletion 23128226
esv23885 CNV Gain 19812545
nsv522878 CNV Loss 19592680
esv2670585 CNV Deletion 23128226
dgv1984n71 CNV Loss 21882294

Relevant External Links for TECPR2 Gene

HapMap Linkage Disequilibrium report
TECPR2
Human Gene Mutation Database (HGMD)
TECPR2

Disorders for TECPR2 Gene

(1) OMIM Diseases for TECPR2 Gene (615000)

UniProtKB/Swiss-Prot

TCPR2_HUMAN
  • 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:0000269 PubMed:23176824}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with TECPR2: view

Publications for TECPR2 Gene

  1. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 2 3 4
  2. Network organization of the human autophagy system. (PMID: 20562859) Behrends C. … Harper J.W. (Nature 2010) 3 4
  3. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. (PMID: 23176824) Oz-Levi D. … Lancet D. (Am. J. Hum. Genet. 2012) 3 4
  4. A COFRADIC protocol to study protein ubiquitination. (PMID: 24816145) Stes E. … Gevaert K. (J. Proteome Res. 2014) 3
  5. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 4

Products for TECPR2 Gene

Sources for TECPR2 Gene

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