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

    Gene ID: 9895, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:19957
    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
    HSAN9; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TECPR2 in Genome Data Viewer
    Location:
    14q32.31
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (102362941..102502477)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (96598536..96738379)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (102829278..102968814)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9070 Neighboring gene zinc finger protein 839 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6115 Neighboring gene uncharacterized LOC124903389 Neighboring gene cyclin dependent kinase 2 interacting protein Neighboring gene uncharacterized LOC124903440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9072 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:102877147-102878136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:102906165-102906672 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:102974901-102975062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:102976187-102976830 Neighboring gene uncharacterized LOC105370679 Neighboring gene RNA, U6 small nuclear 244, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:102976831-102977476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:102977477-102978120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6120 Neighboring gene uncharacterized LOC105370680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9073 Neighboring gene ankyrin repeat domain 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6121 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:102995075-102995576

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0297, KIAA0329

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein exit from endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein exit from endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    tectonin beta-propeller repeat-containing protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5030..144566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172631.3NP_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, ENST00000558678.1
      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_014844.5NP_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
      A5PKY3, A6NFY9, A7E2X3, H0YMM9, O15040, Q9UEG6
      Related
      ENSP00000352510.7, ENST00000359520.12
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      102362941..102502477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      96598536..96738379
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)