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Aliases for TECPR2 Gene

Aliases for TECPR2 Gene

  • Tectonin Beta-Propeller Repeat Containing 2 2 3 5
  • KIAA0329 2 3 4
  • Tectonin Beta-Propeller Repeat-Containing Protein 2 3
  • WD Repeat-Containing Protein KIAA0329/KIAA0297 4
  • KIAA0297 4
  • SPG49 3

External Ids for TECPR2 Gene

Previous HGNC Symbols for TECPR2 Gene

  • KIAA0329

Previous GeneCards Identifiers for TECPR2 Gene

  • GC14P101901
  • GC14P102829
  • GC14P083006

Summaries for TECPR2 Gene

Entrez Gene Summary for TECPR2 Gene

  • 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]

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 and Spastic Paraplegia 49. 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TECPR2 Gene

Genomics for TECPR2 Gene

Regulatory Elements for TECPR2 Gene

Enhancers for TECPR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F102522 1.8 FANTOM5 Ensembl ENCODE 16.9 +163.1 163131 6.2 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 RCOR1 TECPR2 RPL23AP11 MOK ANKRD9 TRAF3 DIO3 ENSG00000271780 RNU6-244P DIO3OS
GH14F102353 0.8 FANTOM5 26.1 -9.7 -9683 0.2 ELF3 TFAP4 SAP130 ZIC2 DNMT3B POLR2A ZNF600 ETV6 CREM GATAD2A TECPR2 RCOR1 WDR20 TRAF3 CINP GC14P102747 ZNF839
GH14F102315 1.4 Ensembl ENCODE 11.8 -43.2 -43173 7.7 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 RCOR1 CINP TECPR2 RPL26P4 ZNF839 CDC42BPB ENSG00000258959 ENSG00000259515 ENSG00000271780 GC14P102747
GH14F102498 1 Ensembl ENCODE 16 +137.2 137225 4.3 BCOR CTCF ZMYM3 ZNF175 MAX RAD21 ZNF600 SMARCA5 HCFC1 L3MBTL2 ANKRD9 TECPR2 RCOR1 CINP PIR47306 GC14M102433
GH14F102441 0.8 ENCODE 17.9 +79.6 79648 3.1 SOX13 ELF3 DRAP1 ZNF792 SAP130 ARID4B CEBPG RARA GATAD1 POLR2A TECPR2 CINP RCOR1 TRAF3 ZNF839 MOK GC14M102433 PIR47306
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TECPR2 on UCSC Golden Path with GeneCards custom track

Promoters for TECPR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000100006 37 2001 PKNOX1 ATF1 ARID4B SIN3A FEZF1 DMAP1 ZNF48 YY1 GLIS2 ZNF143

Genomic Location for TECPR2 Gene

Chromosome:
14
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

Genes around TECPR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TECPR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TECPR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for TECPR2 Gene

Suggested Antigen Peptide Sequences for TECPR2 Gene

Graphical View of Domain Structure for InterPro Entry

O15040

UniProtKB/Swiss-Prot:

TCPR2_HUMAN :
  • Belongs to the WD repeat KIAA0329 family.
  • Contains 6 TECPR repeats.
Family:
  • Belongs to the WD repeat KIAA0329 family.
Similarity:
  • Contains 6 TECPR repeats.
  • Contains 7 WD repeats.
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

Phenotypes for TECPR2 Gene

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

Human Phenotype Ontology for TECPR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for TECPR2 Gene

miRTarBase miRNAs that target TECPR2

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for TECPR2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TECPR2 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
cytosol 2
lysosome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TECPR2 Gene

Pathways & Interactions 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 --
genes like me logo Genes that share ontologies with TECPR2: view

No data available for Pathways by source and SIGNOR curated interactions for TECPR2 Gene

Transcripts for TECPR2 Gene

Unigene Clusters for TECPR2 Gene

Tectonin beta-propeller repeat containing 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for TECPR2 Gene

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

This gene is overexpressed in Whole Blood (x4.9).

Protein differential expression in normal tissues from HIPED for TECPR2 Gene

This gene is overexpressed in Retina (16.9), Testis (15.6), and Frontal cortex (14.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TECPR2 Gene



Protein tissue co-expression partners for TECPR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TECPR2 Gene:

TECPR2

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 expression patterns with TECPR2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TECPR2 Gene

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 34 35
  • 96.41 (n)
dog
(Canis familiaris)
Mammalia TECPR2 34 35
  • 86.39 (n)
mouse
(Mus musculus)
Mammalia Tecpr2 34 16 35
  • 83.03 (n)
rat
(Rattus norvegicus)
Mammalia Tecpr2 34
  • 82.73 (n)
cow
(Bos Taurus)
Mammalia TECPR2 34 35
  • 82.11 (n)
oppossum
(Monodelphis domestica)
Mammalia TECPR2 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TECPR2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves TECPR2 34 35
  • 70.36 (n)
lizard
(Anolis carolinensis)
Reptilia TECPR2 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tecpr2 34
  • 64.82 (n)
zebrafish
(Danio rerio)
Actinopterygii tecpr2 34 35
  • 64.1 (n)
Dr.25330 34
fruit fly
(Drosophila melanogaster)
Insecta CG11141 35
  • 23 (a)
OneToOne
Species where no ortholog for TECPR2 was found in the sources mined by GeneCards:
  • 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
rs55716270 Likely benign 102,428,245(+) TTTTT(A/G)ACAGG intron-variant
rs72700618 Likely benign 102,449,828(+) CTCCT(C/T)GGGCA reference, missense
rs751957510 Uncertain significance 102,434,288(+) GCTCC(A/G)AATTT reference, missense
rs118141823 Benign 102,434,619(+) TGAGC(C/T)GTGTC reference, missense
rs62000389 Benign 102,445,813(+) AAAGG(A/C)AAGCT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv952254 CNV deletion 24416366
nsv952253 CNV duplication 24416366
nsv832880 CNV loss 17160897
nsv565948 CNV gain 21841781
nsv522878 CNV loss 19592680
nsv470671 CNV gain 18288195
nsv1160203 CNV deletion 26073780
nsv1153710 CNV deletion 26484159
nsv1115804 CNV deletion 24896259
nsv1049544 CNV gain 25217958
esv5763 CNV gain 19470904
esv3635557 CNV loss 21293372
esv3635556 CNV loss 21293372
esv3635555 CNV gain 21293372
esv3552079 CNV deletion 23714750
esv3441952 CNV insertion 20981092
esv2749150 CNV deletion 23290073
esv2676040 CNV deletion 23128226
esv2671371 CNV deletion 23128226
esv2670585 CNV deletion 23128226
esv23885 CNV gain 19812545
dgv263n27 CNV gain 19166990

Variation tolerance for TECPR2 Gene

Residual Variation Intolerance Score: 11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.68; 72.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TECPR2 Gene

Human Gene Mutation Database (HGMD)
TECPR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TECPR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TECPR2 Gene

Disorders for TECPR2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TECPR2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 49, autosomal recessive
  • spg49
spastic paraplegia 49
  • spastic paraplegia 49, autosomal recessive
birdshot chorioretinopathy
  • birdshot chorioretinitis
spastic paraparesis
vici syndrome
  • immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for TECPR2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TECPR2
genes like me logo Genes that share disorders with TECPR2: view

No data available for Genatlas for TECPR2 Gene

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 64
  2. 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 64
  3. Network organization of the human autophagy system. (PMID: 20562859) Behrends C. … Harper J.W. (Nature 2010) 3 4 64
  4. WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease. (PMID: 27406698) Covone A.E. … Minetti C. (Clin. Genet. 2016) 3 64
  5. TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. (PMID: 26542466) Heimer G. … Ben Zeev B. (Eur. J. Paediatr. Neurol. 2015) 3 64

Products for TECPR2 Gene

Sources for TECPR2 Gene

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