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UniProtKB - O15040 (TCPR2_HUMAN)
Protein
Tectonin beta-propeller repeat-containing protein 2
Gene
TECPR2
Organism
Homo sapiens (Human)
Status
Functioni
Probably plays a role as positive regulator of autophagy.
1 PublicationGO - Biological processi
- autophagy Source: UniProtKB-KW
- protein exit from endoplasmic reticulum Source: CACAO
Keywordsi
Biological process | Autophagy |
Enzyme and pathway databases
PathwayCommonsi | O15040 |
SignaLinki | O15040 |
Names & Taxonomyi
Protein namesi | Recommended name: Tectonin beta-propeller repeat-containing protein 2Alternative name(s): WD repeat-containing protein KIAA0329/KIAA0297 |
Gene namesi | Name:TECPR2 Synonyms:KIAA0297, KIAA0329 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19957, TECPR2 |
MIMi | 615000, gene |
neXtProti | NX_O15040 |
VEuPathDBi | HostDB:ENSG00000196663 |
Pathology & Biotechi
Involvement in diseasei
Spastic paraplegia 49, autosomal recessive (SPG49)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMKeywords - Diseasei
Hereditary spastic paraplegia, NeurodegenerationOrganism-specific databases
DisGeNETi | 9895 |
MalaCardsi | TECPR2 |
MIMi | 615031, phenotype |
OpenTargetsi | ENSG00000196663 |
Orphaneti | 320385, Hereditary sensory and autonomic neuropathy due to TECPR2 mutation |
PharmGKBi | PA164726437 |
Miscellaneous databases
Pharosi | O15040, Tbio |
Genetic variation databases
BioMutai | TECPR2 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000050747 | 1 – 1411 | Tectonin beta-propeller repeat-containing protein 2Add BLAST | 1411 |
Proteomic databases
EPDi | O15040 |
jPOSTi | O15040 |
MassIVEi | O15040 |
MaxQBi | O15040 |
PaxDbi | O15040 |
PeptideAtlasi | O15040 |
PRIDEi | O15040 |
ProteomicsDBi | 40302 48395 [O15040-1] |
PTM databases
GlyGeni | O15040, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | O15040 |
PhosphoSitePlusi | O15040 |
Expressioni
Tissue specificityi
Detected in skin fibroblast (at protein level).1 Publication
Gene expression databases
Bgeei | ENSG00000196663, Expressed in globus pallidus and 213 other tissues |
Genevisiblei | O15040, HS |
Organism-specific databases
HPAi | ENSG00000196663, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with the ATG8 family members GABARAP, GABARAPL1, GABARAPL2, MAP1LC3B and MAP1LC3C.
1 PublicationBinary interactionsi
O15040
With | #Exp. | IntAct |
---|---|---|
GABARAP [O95166] | 2 | EBI-2946991,EBI-712001 |
GABARAPL1 [Q9H0R8] | 2 | EBI-2946991,EBI-746969 |
GABARAPL2 [P60520] | 2 | EBI-2946991,EBI-720116 |
MAP1LC3C [Q9BXW4] | 2 | EBI-2946991,EBI-2603996 |
Protein-protein interaction databases
BioGRIDi | 115224, 15 interactors |
IntActi | O15040, 12 interactors |
MINTi | O15040 |
STRINGi | 9606.ENSP00000352510 |
Miscellaneous databases
RNActi | O15040, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 23 – 66 | WD 1Add BLAST | 44 | |
Repeati | 67 – 114 | WD 2Add BLAST | 48 | |
Repeati | 115 – 161 | WD 3Add BLAST | 47 | |
Repeati | 162 – 203 | WD 4Add BLAST | 42 | |
Repeati | 204 – 265 | WD 5Add BLAST | 62 | |
Repeati | 266 – 309 | WD 6Add BLAST | 44 | |
Repeati | 310 – 343 | WD 7Add BLAST | 34 | |
Repeati | 945 – 976 | TECPR 1Add BLAST | 32 | |
Repeati | 994 – 1027 | TECPR 2Add BLAST | 34 | |
Repeati | 1179 – 1209 | TECPR 3Add BLAST | 31 | |
Repeati | 1226 – 1259 | TECPR 4Add BLAST | 34 | |
Repeati | 1279 – 1310 | TECPR 5Add BLAST | 32 | |
Repeati | 1322 – 1353 | TECPR 6Add BLAST | 32 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 379 – 439 | DisorderedSequence analysisAdd BLAST | 61 | |
Regioni | 463 – 542 | DisorderedSequence analysisAdd BLAST | 80 | |
Regioni | 579 – 637 | DisorderedSequence analysisAdd BLAST | 59 | |
Regioni | 758 – 779 | DisorderedSequence analysisAdd BLAST | 22 | |
Regioni | 1388 – 1411 | DisorderedSequence analysisAdd BLAST | 24 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 390 – 423 | Polar residuesSequence analysisAdd BLAST | 34 | |
Compositional biasi | 477 – 542 | Polar residuesSequence analysisAdd BLAST | 66 | |
Compositional biasi | 762 – 779 | Polar residuesSequence analysisAdd BLAST | 18 |
Sequence similaritiesi
Belongs to the WD repeat KIAA0329 family.Curated
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG3621, Eukaryota KOG3669, Eukaryota |
GeneTreei | ENSGT00940000157283 |
HOGENOMi | CLU_005841_0_0_1 |
InParanoidi | O15040 |
OMAi | DQMLWVL |
OrthoDBi | 881551at2759 |
PhylomeDBi | O15040 |
TreeFami | TF323607 |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
InterProi | View protein in InterPro IPR006624, Beta-propeller_rpt_TECPR IPR009091, RCC1/BLIP-II IPR029772, TECPR2 IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR036322, WD40_repeat_dom_sf |
PANTHERi | PTHR23287:SF16, PTHR23287:SF16, 1 hit |
Pfami | View protein in Pfam PF06462, Hyd_WA, 2 hits PF19193, Tectonin, 1 hit |
SMARTi | View protein in SMART SM00706, TECPR, 10 hits SM00320, WD40, 3 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit SSF50985, SSF50985, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: O15040-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MASISEPVTF REFCPLYYLL NAIPTKIQKG FRSIVVYLTA LDTNGDYIAV
60 70 80 90 100
GSSIGMLYLY CRHLNQMRKY NFEGKTESIT VVKLLSCFDD LVAAGTASGR
110 120 130 140 150
VAVFQLVSSL PGRNKQLRRF DVTGIHKNSI TALAWSPNGM KLFSGDDKGK
160 170 180 190 200
IVYSSLDLDQ GLCNSQLVLE EPSSIVQLDY SQKVLLVSTL QRSLLFYTEE
210 220 230 240 250
KSVRQIGTQP RKSTGKFGAC FIPGLCKQSD LTLYASRPGL RLWKADVHGT
260 270 280 290 300
VQATFILKDA FAGGVKPFEL HPRLESPNSG SCSLPERHLG LVSCFFQEGW
310 320 330 340 350
VLSWNEYSIY LLDTVNQATV AGLEGSGDIV SVSCTENEIF FLKGDRNIIR
360 370 380 390 400
ISSRPEGLTS TVRDGLEMSG CSERVHVQQA EKLPGATVSE TRLRGSSMAS
410 420 430 440 450
SVASEPRSRS SSLNSTDSGS GLLPPGLQAT PELGKGSQPL SQRFNAISSE
460 470 480 490 500
DFDQELVVKP IKVKRKKKKK KTEGGSRSTC HSSLESTPCS EFPGDSPQSL
510 520 530 540 550
NTDLLSMTSS VLGSSVDQLS AESPDQESSF NGEVNGVPQE NTDPETFNVL
560 570 580 590 600
EVSGSMPDSL AEEDDIRTEM PHCHHAHGRE LLNGAREDVG GSDVTGLGDE
610 620 630 640 650
PCPADDGPNS TQLPFQEQDS SPGAHDGEDI QPIGPQSTFC EVPLLNSLTV
660 670 680 690 700
PSSLSWAPSA EQWLPGTRAD EGSPVEPSQE QDILTSMEAS GHLSTNLWHA
710 720 730 740 750
VTDDDTGQKE IPISERVLGS VGGQLTPVSA LAASTHKPWL EQPPRDQTLT
760 770 780 790 800
SSDEEDIYAH GLPSSSSETS VTELGPSCSQ QDLSRLGAED AGLLKPDQFA
810 820 830 840 850
ESWMGYSGPG YGILSLVVSE KYIWCLDYKG GLFCSALPGA GLRWQKFEDA
860 870 880 890 900
VQQVAVSPSG ALLWKIEQKS NRAFACGKVT IKGKRHWYEA LPQAVFVALS
910 920 930 940 950
DDTAWIIRTS GDLYLQTGLS VDRPCARAVK VDCPYPLSQI TARNNVVWAL
960 970 980 990 1000
TEQRALLYRE GVSSFCPEGE QWKCDIVSER QALEPVCITL GDQQTLWALD
1010 1020 1030 1040 1050
IHGNLWFRTG IISKKPQGDD DHWWQVSITD YVVFDQCSLF QTIIHATHSV
1060 1070 1080 1090 1100
ATAAQAPVEK VADKLRMAFW SQQLQCQPSL LGVNNSGVWI SSGKNEFHVA
1110 1120 1130 1140 1150
KGSLIGTYWN HVVPRGTASA TKWAFVLASA APTKEGSFLW LCQSSKDLCS
1160 1170 1180 1190 1200
VSAQSAQSRP STVQLPPEAE MRAYAACQDA LWALDSLGQV FIRTLSKSCP
1210 1220 1230 1240 1250
TGMHWTRLDL SQLGAVKLTS LACGNQHIWA CDSRGGVYFR VGTQPLNPSL
1260 1270 1280 1290 1300
MLPAWIMIEP PVQPAGVSLV SVHSSPNDQM LWVLDSRWNV HVRTGITEEM
1310 1320 1330 1340 1350
PVGTAWEHVP GLQACQLALS TRTVWARCPN GDLARRYGVT DKNPAGDYWK
1360 1370 1380 1390 1400
KIPGSVSCFT VTASDELWAV GPPGYLLQRL TKTFSHSHGT QKSSQAAMPH
1410
PEDLEDEWEV I
Sequence cautioni
The sequence BAA20787 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 60 | Y → H in AAI42668 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 60 | Y → H in AAI42716 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_046529 | 320 | V → I2 PublicationsCorresponds to variant dbSNP:rs1309353EnsemblClinVar. | 1 | |
Natural variantiVAR_046530 | 386 | A → T. Corresponds to variant dbSNP:rs11845676EnsemblClinVar. | 1 | |
Natural variantiVAR_046531 | 439 | P → S. Corresponds to variant dbSNP:rs2273906EnsemblClinVar. | 1 | |
Natural variantiVAR_046532 | 683 | I → V. Corresponds to variant dbSNP:rs10149146EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044793 | 1264 – 1267 | PAGV → VSRS in isoform 2. 1 Publication | 4 | |
Alternative sequenceiVSP_044794 | 1268 – 1411 | Missing in isoform 2. 1 PublicationAdd BLAST | 144 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB002295 mRNA Translation: BAA20757.1 AB002327 mRNA Translation: BAA20787.2 Different initiation. AL137229 Genomic DNA No translation available. AL136293 Genomic DNA No translation available. CH471061 Genomic DNA Translation: EAW81789.1 BC136647 mRNA Translation: AAI36648.1 BC142667 mRNA Translation: AAI42668.1 BC142715 mRNA Translation: AAI42716.1 BC151230 mRNA Translation: AAI51231.1 |
CCDSi | CCDS32162.1 [O15040-1] CCDS58337.1 [O15040-2] |
RefSeqi | NP_001166102.1, NM_001172631.2 [O15040-2] NP_055659.2, NM_014844.4 [O15040-1] |
Genome annotation databases
Ensembli | ENST00000359520.12; ENSP00000352510.7; ENSG00000196663.16 ENST00000558678.1; ENSP00000453671.1; ENSG00000196663.16 [O15040-2] |
GeneIDi | 9895 |
KEGGi | hsa:9895 |
MANE-Selecti | ENST00000359520.12; ENSP00000352510.7; NM_014844.5; NP_055659.2 |
UCSCi | uc001ylw.2, human [O15040-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB002295 mRNA Translation: BAA20757.1 AB002327 mRNA Translation: BAA20787.2 Different initiation. AL137229 Genomic DNA No translation available. AL136293 Genomic DNA No translation available. CH471061 Genomic DNA Translation: EAW81789.1 BC136647 mRNA Translation: AAI36648.1 BC142667 mRNA Translation: AAI42668.1 BC142715 mRNA Translation: AAI42716.1 BC151230 mRNA Translation: AAI51231.1 |
CCDSi | CCDS32162.1 [O15040-1] CCDS58337.1 [O15040-2] |
RefSeqi | NP_001166102.1, NM_001172631.2 [O15040-2] NP_055659.2, NM_014844.4 [O15040-1] |
3D structure databases
AlphaFoldDBi | O15040 |
SMRi | O15040 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115224, 15 interactors |
IntActi | O15040, 12 interactors |
MINTi | O15040 |
STRINGi | 9606.ENSP00000352510 |
PTM databases
GlyGeni | O15040, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | O15040 |
PhosphoSitePlusi | O15040 |
Genetic variation databases
BioMutai | TECPR2 |
Proteomic databases
EPDi | O15040 |
jPOSTi | O15040 |
MassIVEi | O15040 |
MaxQBi | O15040 |
PaxDbi | O15040 |
PeptideAtlasi | O15040 |
PRIDEi | O15040 |
ProteomicsDBi | 40302 48395 [O15040-1] |
Protocols and materials databases
Antibodypediai | 64, 38 antibodies from 11 providers |
DNASUi | 9895 |
Genome annotation databases
Ensembli | ENST00000359520.12; ENSP00000352510.7; ENSG00000196663.16 ENST00000558678.1; ENSP00000453671.1; ENSG00000196663.16 [O15040-2] |
GeneIDi | 9895 |
KEGGi | hsa:9895 |
MANE-Selecti | ENST00000359520.12; ENSP00000352510.7; NM_014844.5; NP_055659.2 |
UCSCi | uc001ylw.2, human [O15040-1] |
Organism-specific databases
CTDi | 9895 |
DisGeNETi | 9895 |
GeneCardsi | TECPR2 |
HGNCi | HGNC:19957, TECPR2 |
HPAi | ENSG00000196663, Low tissue specificity |
MalaCardsi | TECPR2 |
MIMi | 615000, gene 615031, phenotype |
neXtProti | NX_O15040 |
OpenTargetsi | ENSG00000196663 |
Orphaneti | 320385, Hereditary sensory and autonomic neuropathy due to TECPR2 mutation |
PharmGKBi | PA164726437 |
VEuPathDBi | HostDB:ENSG00000196663 |
HUGEi | Search... Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3621, Eukaryota KOG3669, Eukaryota |
GeneTreei | ENSGT00940000157283 |
HOGENOMi | CLU_005841_0_0_1 |
InParanoidi | O15040 |
OMAi | DQMLWVL |
OrthoDBi | 881551at2759 |
PhylomeDBi | O15040 |
TreeFami | TF323607 |
Enzyme and pathway databases
PathwayCommonsi | O15040 |
SignaLinki | O15040 |
Miscellaneous databases
BioGRID-ORCSi | 9895, 12 hits in 1066 CRISPR screens |
ChiTaRSi | TECPR2, human |
GenomeRNAii | 9895 |
Pharosi | O15040, Tbio |
PROi | PR:O15040 |
RNActi | O15040, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000196663, Expressed in globus pallidus and 213 other tissues |
Genevisiblei | O15040, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
InterProi | View protein in InterPro IPR006624, Beta-propeller_rpt_TECPR IPR009091, RCC1/BLIP-II IPR029772, TECPR2 IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR036322, WD40_repeat_dom_sf |
PANTHERi | PTHR23287:SF16, PTHR23287:SF16, 1 hit |
Pfami | View protein in Pfam PF06462, Hyd_WA, 2 hits PF19193, Tectonin, 1 hit |
SMARTi | View protein in SMART SM00706, TECPR, 10 hits SM00320, WD40, 3 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit SSF50985, SSF50985, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TCPR2_HUMAN | |
Accessioni | O15040Primary (citable) accession number: O15040 Secondary accession number(s): A5PKY3 Q9UEG6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 21, 2001 |
Last sequence update: | November 30, 2010 | |
Last modified: | May 25, 2022 | |
This is version 167 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families