U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    TSPEAR thrombospondin type laminin G domain and EAR repeats [ Homo sapiens (human) ]

    Gene ID: 54084, updated on 10-Dec-2024

    Summary

    Official Symbol
    TSPEARprovided by HGNC
    Official Full Name
    thrombospondin type laminin G domain and EAR repeatsprovided by HGNC
    Primary source
    HGNC:HGNC:1268
    See related
    Ensembl:ENSG00000175894 MIM:612920; AllianceGenome:HGNC:1268
    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
    DFNB98; ECTD14; STHAG10; TSP-EAR; C21orf29
    Summary
    This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
    Expression
    Biased expression in testis (RPKM 1.1), skin (RPKM 0.4) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TSPEAR in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44497893..44711572, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (42858376..43072006, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45917776..46131487, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905037 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45911506-45912006 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:45912034-45913233 Neighboring gene long intergenic non-protein coding RNA 2575 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45923045-45923564 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:45928270-45929469 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13385 Neighboring gene TSPEAR antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45939631-45940180 Neighboring gene TSPEAR antisense RNA 2 Neighboring gene uncharacterized LOC124905038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45957963-45958462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45958816-45959480 Neighboring gene Sharpr-MPRA regulatory region 850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45969969-45970518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45970519-45971066 Neighboring gene keratin associated protein 10-1 Neighboring gene keratin associated protein 10-2 Neighboring gene keratin associated protein 10-3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45993821-45994338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45994339-45994857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45999625-46000215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46000216-46000805 Neighboring gene keratin associated protein 10-4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46009439-46010260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46011233-46011980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46011981-46012726 Neighboring gene keratin associated protein 10-5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46012727-46013473 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:46018864-46019624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46020385-46021145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46021146-46021905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46022006-46022862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46022863-46023717 Neighboring gene keratin associated protein 10-6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46031985-46032634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46032635-46033283 Neighboring gene keratin associated protein 10-7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46036915-46037661 Neighboring gene keratin associated protein 10-8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46045935-46046630 Neighboring gene keratin associated protein 10-9 Neighboring gene keratin associated protein 10-10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46067006-46067870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46075040-46075540 Neighboring gene keratin associated protein 10-11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46075541-46076041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46077511-46078482 Neighboring gene keratin associated protein 12-4 Neighboring gene keratin associated protein 12-3 Neighboring gene keratin associated protein 12-2 Neighboring gene keratin associated protein 12-1 Neighboring gene keratin associated protein 12-5, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46116947-46117626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46117627-46118306 Neighboring gene inner membrane mitochondrial protein pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46122289-46123024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46123025-46123760 Neighboring gene keratin associated protein 10-12 Neighboring gene keratin associated protein 10-13, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46129182-46129922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46129923-46130663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46130677-46131447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46150268-46150768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46150769-46151269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46151907-46152582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46152583-46153258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46155285-46155958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46155959-46156634 Neighboring gene Sharpr-MPRA regulatory region 5612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46184321-46184886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46185571-46186334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46186335-46187098 Neighboring gene Sharpr-MPRA regulatory region 676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46188940-46189440 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:46208307-46208531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18575 Neighboring gene ubiquitin conjugating enzyme E2 G2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:46220961-46221916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13388 Neighboring gene long intergenic non-protein coding RNA 1424

    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?

    Interactions

    General gene information

    Clone Names

    • MGC11251

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cell surface  
    located_in ciliary membrane  
    located_in extracellular region  
    located_in stereocilium  

    General protein information

    Preferred Names
    thrombospondin-type laminin G domain and EAR repeat-containing protein
    Names
    thrombospondin-type laminin G domain and EAR repeats-containing protein

    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_033806.2 RefSeqGene

      Range
      5000..218679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001272037.2NP_001258966.1  thrombospondin-type laminin G domain and EAR repeat-containing protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional exon in the 5' region that causes translation initiation from a downstream AUG compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AJ487962, AL773604, BC115414
      UniProtKB/Swiss-Prot
      Q8WU66
      UniProtKB/TrEMBL
      A0A087WZ72
      Conserved Domains (2) summary
      pfam03736
      Location:344391
      EPTP; EPTP domain
      cl22861
      Location:14154
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    2. NM_144991.3NP_659428.2  thrombospondin-type laminin G domain and EAR repeat-containing protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_659428.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AJ487962
      Consensus CDS
      CCDS13712.1
      UniProtKB/Swiss-Prot
      Q8WU66
      Related
      ENSP00000321987.4, ENST00000323084.9
      Conserved Domains (2) summary
      pfam03736
      Location:412459
      EPTP; EPTP domain
      cl22861
      Location:82222
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      44497893..44711572 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      42858376..43072006 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    External link. Please review our privacy policy.