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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 wit... See more...
Aliases for TECPR2 Gene
Aliases for TECPR2 Gene
External Ids for TECPR2 Gene
- HGNC: 19957
- Entrez Gene: 9895
- Ensembl: ENSG00000196663
- OMIM: 615000
- UniProtKB: O15040
Previous HGNC Symbols for TECPR2 Gene
- KIAA0329
Previous GeneCards Identifiers for TECPR2 Gene
- GC14P101901
- GC14P102829
- GC14P083006
Summaries 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 Birdshot Chorioretinopathy. An important paralog of this gene is HPS5.
UniProtKB/Swiss-Prot Summary for TECPR2 Gene
-
Probably plays a role as positive regulator of autophagy.
Additional gene information for TECPR2 Gene
- HGNC(19957)
- Entrez Gene(9895)
- Ensembl(ENSG00000196663)
- OMIM(615000)
- UniProtKB(O15040)
- Open Targets Platform(ENSG00000196663)
- Monarch Initiative
- Search for TECPR2 at DataMed
- Search for TECPR2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TECPR2 Gene
Genomics for TECPR2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TECPR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TECPR2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TECPR2
- Top Transcription factor binding sites by QIAGEN in the TECPR2 gene promoter:
-
- HEN1
- Olf-1
- PPAR-gamma1
- PPAR-gamma2
- SRF
- SRF (504 AA)
- USF-1
- USF-1:USF-2
- USF1
- USF2
Genomic Locations for TECPR2 Gene
Genomic Locations for TECPR2 Gene
- chr14:102,362,941-102,502,477
- (GRCh38/hg38)
- Size:
- 139,537 bases
- Orientation:
- Plus strand
- chr14:102,829,300-102,968,818
- (GRCh37/hg19)
- 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:
-
- 14q32.33 by HGNC
- 14q32.31 by Entrez Gene
- 14q32.31 by Ensembl
TECPR2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for TECPR2 Gene
Post-translational modifications for TECPR2 Gene
Other Protein References for TECPR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-TECPR2 monoclonal antibody
- Novus Biologicals Antibodies for TECPR2
- Invitrogen Antibodies for TECPR2 (AFLGC-TECPR2)
- antibodies-online: Show 6 available TECPR2 Antibodies ranked by validation data
-
Biorbyt antibodies for TECPR2
Protein Products
-
OriGene Purified Proteins for TECPR2
- Search Origene for MassSpec and Protein Over-expression Lysates for TECPR2
- Origene Custom Protein Services for TECPR2
- Novus Biologicals proteins for TECPR2
No data available for DME Specific Peptides for TECPR2 Gene
Domains & Families for TECPR2 Gene
Gene Families for TECPR2 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for TECPR2 Gene
- InterPro:
- Blocks:
-
- G-protein beta WD-40 repeat signature
- Beta-propeller repeat TECPR
- ProtoNet:
Suggested Antigen Peptide Sequences for TECPR2 Gene
- GenScript: Design optimal peptide antigens:
-
- TECPR2 protein (A5PKY3_HUMAN)
- WD repeat-containing protein KIAA0329/KIAA0297 (TCPR2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O15040- Family:
-
- Belongs to the WD repeat KIAA0329 family.
Function for TECPR2 Gene
Molecular function for TECPR2 Gene
- UniProtKB/Swiss-Prot Function:
- Probably plays a role as positive regulator of autophagy.
Phenotypes From GWAS Catalog for TECPR2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 20562859 |
Phenotypes for TECPR2 Gene
- MGI mutant phenotypes for TECPR2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TECPR2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TECPR2 - Select products 50% OFF >
- * TECPR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TECPR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TECPR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for TECPR2
miRNA for TECPR2 Gene
- miRTarBase miRNAs that target TECPR2
-
- hsa-miR-92a-3p (MIRT049520)
- hsa-miR-32-5p (MIRT069309)
- hsa-miR-92b-3p (MIRT069314)
- hsa-miR-143-5p (MIRT466467)
- hsa-miR-3944-5p (MIRT466468)
- hsa-miR-6845-5p (MIRT466469)
- hsa-miR-6762-5p (MIRT466470)
- hsa-miR-6508-3p (MIRT466471)
- hsa-miR-6722-3p (MIRT466472)
- hsa-miR-1909-3p (MIRT466473)
- hsa-miR-6836-5p (MIRT466474)
- hsa-miR-6132 (MIRT466475)
- hsa-miR-4742-3p (MIRT466476)
- hsa-miR-4793-5p (MIRT466477)
- hsa-miR-5196-3p (MIRT466478)
- hsa-miR-500b-5p (MIRT466479)
- hsa-miR-362-5p (MIRT466480)
- hsa-miR-216b-5p (MIRT466481)
- hsa-miR-216a-5p (MIRT466482)
- hsa-miR-4737 (MIRT553689)
- mmu-miR-5101 (MIRT588700)
- mmu-miR-335-3p (MIRT588701)
- mmu-miR-26a-5p (MIRT588702)
- mmu-miR-26b-5p (MIRT588703)
- mmu-miR-710 (MIRT588704)
- mmu-miR-125b-2-3p (MIRT588705)
- mmu-miR-1896 (MIRT588706)
- mmu-miR-129-1-3p (MIRT588707)
- mmu-miR-129-2-3p (MIRT588708)
- mmu-miR-3085-3p (MIRT588709)
- mmu-miR-3064-5p (MIRT588710)
- mmu-miR-3087-3p (MIRT588711)
- mmu-miR-201-5p (MIRT588712)
- mmu-miR-199a-3p (MIRT588713)
- mmu-miR-199b-3p (MIRT588714)
- mmu-miR-411-5p (MIRT588715)
- hsa-miR-6833-3p (MIRT663287)
- hsa-miR-4768-5p (MIRT663288)
- hsa-miR-629-3p (MIRT663289)
- hsa-miR-6818-3p (MIRT663290)
- hsa-miR-4507 (MIRT663291)
- hsa-miR-3940-5p (MIRT663292)
- hsa-miR-6873-3p (MIRT663293)
- hsa-miR-6867-3p (MIRT663294)
- hsa-miR-4713-5p (MIRT663295)
- hsa-miR-211-5p (MIRT663296)
- hsa-miR-204-5p (MIRT663297)
- hsa-miR-642a-5p (MIRT663298)
- hsa-miR-494-5p (MIRT663299)
- hsa-miR-410-5p (MIRT663300)
- hsa-miR-323b-5p (MIRT663301)
- hsa-miR-942-5p (MIRT663302)
- hsa-miR-600 (MIRT663303)
- hsa-miR-29a-5p (MIRT663304)
- hsa-miR-3920 (MIRT663305)
- hsa-miR-6845-3p (MIRT663306)
- hsa-miR-4685-3p (MIRT663307)
- hsa-miR-4287 (MIRT663308)
- hsa-miR-7113-3p (MIRT663309)
- hsa-miR-4469 (MIRT663310)
- hsa-miR-6832-3p (MIRT663311)
- hsa-miR-5088-3p (MIRT663312)
- hsa-miR-2276-5p (MIRT663313)
- hsa-miR-6892-3p (MIRT663314)
- hsa-miR-4667-3p (MIRT663315)
- hsa-miR-1470 (MIRT663316)
- hsa-miR-6756-3p (MIRT663317)
- hsa-miR-3127-3p (MIRT663318)
- hsa-miR-4715-3p (MIRT693412)
- hsa-miR-6071 (MIRT693413)
- hsa-miR-6829-5p (MIRT693414)
- hsa-miR-6882-3p (MIRT693415)
- hsa-miR-661 (MIRT693416)
- hsa-miR-6781-3p (MIRT693417)
- hsa-miR-2682-3p (MIRT693418)
- hsa-miR-3692-5p (MIRT693419)
- hsa-miR-93-3p (MIRT693420)
- hsa-miR-6728-3p (MIRT693421)
- hsa-miR-7107-5p (MIRT693422)
- hsa-miR-6852-5p (MIRT693423)
- hsa-miR-1234-3p (MIRT693424)
- hsa-miR-195-5p (MIRT727375)
- hsa-miR-16-5p (MIRT727376)
- hsa-miR-15a-5p (MIRT727377)
- hsa-miR-15b-5p (MIRT727378)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TECPR2
- Browse OriGene Inhibitory RNA Products For TECPR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TECPR2
Clone Products
- Applied Biological Materials (abm): Clones for TECPR2 - Select products 50% OFF >
- * TECPR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TECPR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TECPR2
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TECPR2 Gene
Localization for TECPR2 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 3 |
| cytoskeleton | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for TECPR2 Gene
Pathways & Interactions for TECPR2 Gene
Interacting Proteins for TECPR2 Gene
Selected Interacting proteins:
O15040-TCPR2_HUMAN
ENSP00000352510
for TECPR2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TECPR2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006914 | autophagy | IEA | -- |
| GO:0032527 | protein exit from endoplasmic reticulum | IMP | 26431026 |
No data available for Pathways by source and SIGNOR curated interactions for TECPR2 Gene
Transcripts for TECPR2 Gene
mRNA/cDNA for TECPR2 Gene
- 2 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000359520 8704 nts (view in UCSC)
- ENST00000557786 570 nts (view in UCSC)
- ENST00000558678 4281 nts (view in UCSC)
- ENST00000559124 491 nts (view in UCSC)
- ENST00000560060 584 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TECPR2 - Select products 50% OFF >
- * TECPR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TECPR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TECPR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for TECPR2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TECPR2
- Browse OriGene Inhibitory RNA Products For TECPR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TECPR2
Clone Products
- Applied Biological Materials (abm): Clones for TECPR2 - Select products 50% OFF >
- * TECPR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TECPR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TECPR2
Relevant External Links for TECPR2 Gene
- GeneLoc Exon Structure for
- TECPR2
Expression for TECPR2 Gene
mRNA differential expression in normal tissues according to GTEx for TECPR2 Gene
This gene is overexpressed in Whole Blood (x4.9).
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, MaxQB, and MOPED for TECPR2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TECPR2
SOURCE GeneReport for Unigene cluster for TECPR2 Gene:
Hs.195667mRNA Expression by UniProt/SwissProt for TECPR2 Gene:
O15040-TCPR2_HUMAN
Tissue specificity:
Detected in skin fibroblast (at protein level).
Evidence on tissue expression from TISSUES for TECPR2 Gene
- Nervous system(4.6)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TECPR2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cheek
- chin
- face
- forehead
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- scalp
- skull
- tooth
Thorax:
- esophagus
Abdomen:
- stomach
Limb:
- lower limb
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
Primer Products
-
OriGene qPCR primer pairs for TECPR2
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TECPR2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TECPR2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Tecpr2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tecpr2 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | TECPR2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TECPR2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TECPR2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TECPR2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TECPR2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tecpr2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tecpr2 30 31 |
|
OneToOne | |
| Dr.25330 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG11141 31 |
|
OneToOne |
- Species where no ortholog for TECPR2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for TECPR2: view image
Paralogs for TECPR2 Gene
Variants for TECPR2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TECPR2 Gene
| SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 643494 | Uncertain Significance: Spastic paraplegia 49, autosomal recessive | 102,449,735(+) | T/C | MISSENSE_VARIANT | |
| 646985 | Uncertain Significance: Spastic paraplegia 49, autosomal recessive | 102,498,210(+) | G/A | MISSENSE_VARIANT | |
| 647491 | Uncertain Significance: Spastic paraplegia 49, autosomal recessive | 102,434,823(+) | CTGA/C | INFRAME_DELETION | |
| 649453 | Uncertain Significance: Spastic paraplegia 49, autosomal recessive | 102,414,777(+) | A/G | MISSENSE_VARIANT | |
| 651200 | Uncertain Significance: Spastic paraplegia 49, autosomal recessive; not provided | 102,435,147(+) | G/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv263n27 | CNV | gain | 19166990 |
| esv23885 | CNV | gain | 19812545 |
| esv2670585 | CNV | deletion | 23128226 |
| esv2671371 | CNV | deletion | 23128226 |
| esv2676040 | CNV | deletion | 23128226 |
| esv2749150 | CNV | deletion | 23290073 |
| esv3441952 | CNV | insertion | 20981092 |
| esv3552079 | CNV | deletion | 23714750 |
| esv3635555 | CNV | gain | 21293372 |
| esv3635556 | CNV | loss | 21293372 |
| esv3635557 | CNV | loss | 21293372 |
| esv5763 | CNV | gain | 19470904 |
| nsv1049544 | CNV | gain | 25217958 |
| nsv1115804 | CNV | deletion | 24896259 |
| nsv1153710 | CNV | deletion | 26484159 |
| nsv1160203 | CNV | deletion | 26073780 |
| nsv470671 | CNV | gain | 18288195 |
| nsv522878 | CNV | loss | 19592680 |
| nsv565948 | CNV | gain | 21841781 |
| nsv832880 | CNV | loss | 17160897 |
| nsv952253 | CNV | duplication | 24416366 |
| nsv952254 | CNV | deletion | 24416366 |
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)
Additional Variant Information for TECPR2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TECPR2 Gene
Disorders for TECPR2 Gene
(14) MalaCards diseases for TECPR2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 49, autosomal recessive |
|
|
| birdshot chorioretinopathy |
|
|
| spastic paraparesis |
|
|
| mental retardation, fra12a type |
|
|
| paraplegia |
|
|
Search TECPR2 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for TECPR2
No data available for Genatlas for TECPR2 Gene
Publications for TECPR2 Gene
- 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 research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
- TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export. (PMID: 26431026) Stadel D … Behrends C (Molecular cell 2015) 2 3
- Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. (PMID: 23176824) Oz-Levi D … Lancet D (American journal of human genetics 2012) 3 4
- Network organization of the human autophagy system. (PMID: 20562859) Behrends C … Harper JW (Nature 2010) 3 4
- Neuropathology-driven Whole-genome Sequencing Study Points to Novel Candidate Genes for Healthy Brain Aging. (PMID: 30681437) Alexander J … Kovacs GG (Alzheimer disease and associated disorders 2019) 3
ExternalLinks
Products for TECPR2 Gene
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- Biorbyt antibodies for TECPR2
Sources for TECPR2 Gene
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