• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TECPR2 (HGNC:19957) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
tectonin beta-propeller repeat containing 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
KIAA0329
Alias symbols
No aliases found
%HI
73.01(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.58(Read more about gnomAD pLI score)
LOEUF
0.35(Read more about gnomAD LOEUF score)
Cytoband
14q32.33
Genomic Coordinates
GRCh37/hg19: chr14:102829278-102968814 NCBI Ensembl UCSC
GRCh38/hg38: chr14:102362941-102502477 NCBI Ensembl UCSC
MANE Select Transcript
NM_014844.5 ENST00000359520.12 (Read more about MANE Select)
Function
Probably plays a role as positive regulator of autophagy. {ECO:0000269|PubMed:23176824}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-16279
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • hereditary spastic paraplegia 49 Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)