Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9895
Gene name Gene Name - the full gene name approved by the HGNC.
Tectonin beta-propeller repeat containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TECPR2
Synonyms (NCBI Gene) Gene synonyms aliases
HSAN9, KIAA0329, SPG49
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HSAN9
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.31
Summary Summary of gene provided in NCBI Entrez 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 expressio
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs55716270 G>A,T Likely-benign, conflicting-interpretations-of-pathogenicity Intron variant
rs199845217 C>A,G Conflicting-interpretations-of-pathogenicity Intron variant, genic downstream transcript variant
rs572609303 AGAAGA>-,AGA,AGAAGAAGA,AGAAGAAGAAGAAGA Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, inframe insertion, inframe deletion
rs750908377 T>- Pathogenic Frameshift variant, coding sequence variant
rs751970061 T>- Pathogenic-likely-pathogenic, pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049520 hsa-miR-92a-3p CLASH 23622248
MIRT693423 hsa-miR-6852-5p HITS-CLIP 23313552
MIRT693424 hsa-miR-1234-3p HITS-CLIP 23313552
MIRT693422 hsa-miR-7107-5p HITS-CLIP 23313552
MIRT693421 hsa-miR-6728-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20562859
GO:0005737 Component Cytoplasm IEA
GO:0006914 Process Autophagy IEA
GO:0032527 Process Protein exit from endoplasmic reticulum IMP 26431026
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615000 19957 ENSG00000196663
Protein
UniProt ID O15040
Protein name Tectonin beta-propeller repeat-containing protein 2 (WD repeat-containing protein KIAA0329/KIAA0297)
Protein function Probably plays a role as positive regulator of autophagy.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06462 Hyd_WA 946 974 Propeller Family
PF06462 Hyd_WA 995 1026 Propeller Family
PF19193 Tectonin 1171 1326 Tectonin domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in skin fibroblast (at protein level). {ECO:0000269|PubMed:23176824}.
Sequence
MASISEPVTFREFCPLYYLLNAIPTKIQKGFRSIVVYLTALDTNGDYIAVGSSIGMLYLY
CRHLNQMRKYNFEGKTESITVVKLLSCFDDLVAAGTASGRVAVFQLVSSLPGRNKQLRRF
DVTGIHKNSITALAWSPNGMKLFSGDDKGKIVYSSLDLDQGLCNSQLVLEEPSSIVQLDY
SQKVLLVSTLQRSLLFYTEEKSVRQIGTQPRKSTGKFGACFIPGLCKQSDLTLYASRPGL
RLWKADVHGTVQATFILKDAFAGGVKPFELHPRLESPNSGSCSLPERHLGLVSCFFQEGW
VLSWNEYSIYLLDTVNQATVAGLEGSGDIVSVSCTENEIFFLKGDRNIIRISSRPEGLTS
TVRDGLEMSGCSERVHVQQAEKLPGATVSETRLRGSSMASSVASEPRSRSSSLNSTDSGS
GLLPPGLQATPELGKGSQPLSQRFNAISSEDFDQELVVKPIKVKRKKKKKKTEGGSRSTC
HSSLESTPCSEFPGDSPQSLNTDLLSMTSSVLGSSVDQLSAESPDQESSFNGEVNGVPQE
NTDPETFNVLEVSGSMPDSLAEEDDIRTEMPHCHHAHGRELLNGAREDVGGSDVTGLGDE
PCPADDGPNSTQLPFQEQDSSPGAHDGEDIQPIGPQSTFCEVPLLNSLTVPSSLSWAPSA
EQWLPGTRADEGSPVEPSQEQDILTSMEASGHLSTNLWHAVTDDDTGQKEIPISERVLGS
VGGQLTPVSALAASTHKPWLEQPPRDQTLTSSDEEDIYAHGLPSSSSETSVTELGPSCSQ
QDLSRLGAEDAGLLKPDQFAESWMGYSGPGYGILSLVVSEKYIWCLDYKGGLFCSALPGA
GLRWQKFEDAVQQVAVSPSGALLWKIEQKSNRAFACGKVTIKGKRHWYEALPQAVFVALS
DDTAWIIRTSGDLYLQTGLSVDRPCARAVKVDCPYPLSQITARNNVVWALTEQRALLYRE
GVSSFCPEGEQWKC
DIVSERQALEPVCITLGDQQTLWALDIHGNLWFRTGIISKKPQGDD
DHWWQV
SITDYVVFDQCSLFQTIIHATHSVATAAQAPVEKVADKLRMAFWSQQLQCQPSL
LGVNNSGVWISSGKNEFHVAKGSLIGTYWNHVVPRGTASATKWAFVLASAAPTKEGSFLW
LCQSSKDLCSVSAQSAQSRPSTVQLPPEAEMRAYAACQDALWALDSLGQVFIRTLSKSCP
TGMHWTRLDLSQLGAVKLTSLACGNQHIWACDSRGGVYFRVGTQPLNPSLMLPAWIMIEP
PVQPAGVSLVSVHSSPNDQMLWVLDSRWNVHVRTGITEEMPVGTAWEHVPGLQACQLALS
TRTVWA
RCPNGDLARRYGVTDKNPAGDYWKKIPGSVSCFTVTASDELWAVGPPGYLLQRL
TKTFSHSHGTQKSSQAAMPHPEDLEDEWEVI
Sequence length 1411
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Charcot-marie-tooth disease HMSN Type V rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295
View all (1137 more)
23176824
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy due to TECPR2 mutation rs137852739, rs137852737, rs28940291, rs28940294, rs267607089, rs267607091, rs119482081, rs119482083, rs119482082, rs267607087, rs111033592, rs111033590, rs111033591, rs387906331, rs387906332
View all (41 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Spastic Paraplegia hereditary spastic paraplegia 49 GenCC
Birdshot Chorioretinopathy Birdshot Chorioretinopathy GWAS
Associations from Text Mining
Disease Name Relationship Type References
Ataxia Associate 34130600
Birdshot Chorioretinopathy Associate 24957906
Brain Diseases Associate 34130600
Dystonic Disorders Associate 35130874
Frontotemporal Dementia Associate 34130600
Gaucher Disease Associate 34130600
Gerstmann Straussler Scheinker Disease Associate 34130600
Glycogen Storage Disease Associate 34130600
Heredodegenerative Disorders Nervous System Associate 23439247, 33213269
Huntington Disease Associate 34130600