Format

Send to:

Choose Destination

TECPR2 tectonin beta-propeller repeat containing 2 [ Homo sapiens (human) ]

Gene ID: 9895, updated on 5-Aug-2018

Summary

Official Symbol
TECPR2provided by HGNC
Official Full Name
tectonin beta-propeller repeat containing 2provided by HGNC
Primary source
HGNC:HGNC:19957
See related
Ensembl:ENSG00000196663 MIM:615000; Vega:OTTHUMG00000171776
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPG49; KIAA0329
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 5.5) and 25 other tissues See more
Orthologs

Genomic context

See TECPR2 in Genome Data Viewer
Location:
14q32.31
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (102362912..102502481)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (102829300..102968818)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene transfer RNA-Ile (AAT) 5-4 Neighboring gene zinc finger protein 839 Neighboring gene cyclin dependent kinase 2 interacting protein Neighboring gene RNA, U6 small nuclear 244, pseudogene Neighboring gene uncharacterized LOC105370679 Neighboring gene ankyrin repeat domain 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spastic paraplegia 49, autosomal recessive
MedGen: C3542549 OMIM: 615031 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0297, KIAA0329

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
tectonin beta-propeller repeat-containing protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042851.1 RefSeqGene

    Range
    5001..144570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172631.2NP_001166102.1  tectonin beta-propeller repeat-containing protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB002327, AL137229, BC142667, BP365224
    Consensus CDS
    CCDS58337.1
    UniProtKB/Swiss-Prot
    O15040
    Related
    ENSP00000453671.1, OTTHUMP00000247150, ENST00000558678.1, OTTHUMT00000415840
    Conserved Domains (3) summary
    COG2319
    Location:36365
    WD40; WD40 repeat [General function prediction only]
    pfam06462
    Location:9961026
    Hyd_WA; Propeller
    sd00039
    Location:3773
    7WD40; WD40 repeat [structural motif]
  2. NM_014844.4NP_055659.2  tectonin beta-propeller repeat-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_055659.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB002327, AL136293, AL137229, BC136647, BP365224, BQ023338
    Consensus CDS
    CCDS32162.1
    UniProtKB/Swiss-Prot
    O15040
    Related
    ENSP00000352510.7, OTTHUMP00000246828, ENST00000359520.11, OTTHUMT00000415056
    Conserved Domains (4) summary
    smart00706
    Location:13471379
    TECPR; Beta propeller repeats in Physarum polycephalum tectonins, Limulus lectin L-6 and animal hypothetical proteins
    COG2319
    Location:36365
    WD40; WD40 repeat [General function prediction only]
    pfam06462
    Location:13241352
    Hyd_WA; Propeller
    sd00039
    Location:3773
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    102362912..102502481
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center