TECPR2

Protein identityUniProt · HPA

UniProt accession

O15040

Gene

TECPR2

Ensembl

ENSG00000196663

Chromosome

14

Canonical length

1411 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nucleoli,Centrosome

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1411 residues, UniProt reviewed canonical sequence.

>O15040|TECPR2
     1  MASISEPVTF REFCPLYYLL NAIPTKIQKG FRSIVVYLTA LDTNGDYIAV GSSIGMLYLY
    61  CRHLNQMRKY NFEGKTESIT VVKLLSCFDD LVAAGTASGR VAVFQLVSSL PGRNKQLRRF
   121  DVTGIHKNSI TALAWSPNGM KLFSGDDKGK IVYSSLDLDQ GLCNSQLVLE EPSSIVQLDY
   181  SQKVLLVSTL QRSLLFYTEE KSVRQIGTQP RKSTGKFGAC FIPGLCKQSD LTLYASRPGL
   241  RLWKADVHGT VQATFILKDA FAGGVKPFEL HPRLESPNSG SCSLPERHLG LVSCFFQEGW
   301  VLSWNEYSIY LLDTVNQATV AGLEGSGDIV SVSCTENEIF FLKGDRNIIR ISSRPEGLTS
   361  TVRDGLEMSG CSERVHVQQA EKLPGATVSE TRLRGSSMAS SVASEPRSRS SSLNSTDSGS
   421  GLLPPGLQAT PELGKGSQPL SQRFNAISSE DFDQELVVKP IKVKRKKKKK KTEGGSRSTC
   481  HSSLESTPCS EFPGDSPQSL NTDLLSMTSS VLGSSVDQLS AESPDQESSF NGEVNGVPQE
   541  NTDPETFNVL EVSGSMPDSL AEEDDIRTEM PHCHHAHGRE LLNGAREDVG GSDVTGLGDE
   601  PCPADDGPNS TQLPFQEQDS SPGAHDGEDI QPIGPQSTFC EVPLLNSLTV PSSLSWAPSA
   661  EQWLPGTRAD EGSPVEPSQE QDILTSMEAS GHLSTNLWHA VTDDDTGQKE IPISERVLGS
   721  VGGQLTPVSA LAASTHKPWL EQPPRDQTLT SSDEEDIYAH GLPSSSSETS VTELGPSCSQ
   781  QDLSRLGAED AGLLKPDQFA ESWMGYSGPG YGILSLVVSE KYIWCLDYKG GLFCSALPGA
   841  GLRWQKFEDA VQQVAVSPSG ALLWKIEQKS NRAFACGKVT IKGKRHWYEA LPQAVFVALS
   901  DDTAWIIRTS GDLYLQTGLS VDRPCARAVK VDCPYPLSQI TARNNVVWAL TEQRALLYRE
   961  GVSSFCPEGE QWKCDIVSER QALEPVCITL GDQQTLWALD IHGNLWFRTG IISKKPQGDD
  1021  DHWWQVSITD YVVFDQCSLF QTIIHATHSV ATAAQAPVEK VADKLRMAFW SQQLQCQPSL
  1081  LGVNNSGVWI SSGKNEFHVA KGSLIGTYWN HVVPRGTASA TKWAFVLASA APTKEGSFLW
  1141  LCQSSKDLCS VSAQSAQSRP STVQLPPEAE MRAYAACQDA LWALDSLGQV FIRTLSKSCP
  1201  TGMHWTRLDL SQLGAVKLTS LACGNQHIWA CDSRGGVYFR VGTQPLNPSL MLPAWIMIEP
  1261  PVQPAGVSLV SVHSSPNDQM LWVLDSRWNV HVRTGITEEM PVGTAWEHVP GLQACQLALS
  1321  TRTVWARCPN GDLARRYGVT DKNPAGDYWK KIPGSVSCFT VTASDELWAV GPPGYLLQRL
  1381  TKTFSHSHGT QKSSQAAMPH PEDLEDEWEV I

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TECPR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.39

Highest tissue expression

13 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TECPR2.

Disease | AllUniProt

Conditions TECPR2 is implicated in, by any mechanism.

• Neuropathy, hereditary sensory and autonomic, 9, with developmental delay (HSAN9) MIM:615031

Disease | GeneticClinVar

126 pathogenic / likely-pathogenic of 1,575 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary spastic paraplegia 49
• Hereditary spastic paraplegia
• Sensory autonomic neuropathy with intellectual disability
• Inborn genetic diseases
• Autism

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.35

gnomAD pLI

0.58

gnomAD missense Z

1.74

DepMap mean gene effect

-0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• autophagy
• protein exit from endoplasmic reticulum

Cellular components

• cytoplasm

Protein domainsUniProt · Pfam · InterPro

• WD40 repeat
• Beta-propeller repeat TECPR
• Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
• WD40/YVTN repeat-like-containing domain superfamily
• WD40-repeat-containing domain superfamily
• HPS5-like, beta-propeller domain
• Propeller
• Tectonin domain
• HPS5 beta-propeller

KeywordsUniProt

• Autophagy
• Hereditary spastic paraplegia
• Neurodegeneration
• Neuropathy
• Repeat
• WD repeat

InteractionsUniProt · HPA

Protein binding partners of TECPR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GABARAPL1
• GABARAPL2
• MAP1LC3B
• MAP1LC3C
• GABARAP