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

Gene ID: 54084, updated on 1-Jun-2020

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
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; 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

Genomic context

See TSPEAR in Genome Data Viewer
Location:
21q22.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (44497893..44711572, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45917775..46131495, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene MT-ND6 pseudogene 21 Neighboring gene MT-ND5 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2575 Neighboring gene TSPEAR antisense RNA 1 Neighboring gene TSPEAR antisense RNA 2 Neighboring gene Sharpr-MPRA regulatory region 850 Neighboring gene keratin associated protein 10-1 Neighboring gene keratin associated protein 10-2 Neighboring gene keratin associated protein 10-3 Neighboring gene keratin associated protein 10-4 Neighboring gene keratin associated protein 10-5 Neighboring gene keratin associated protein 10-6 Neighboring gene keratin associated protein 10-7 Neighboring gene keratin associated protein 10-8 Neighboring gene keratin associated protein 10-9 Neighboring gene keratin associated protein 10-10 Neighboring gene keratin associated protein 10-11 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 12-6, pseudogene Neighboring gene inner membrane mitochondrial protein pseudogene 1 Neighboring gene keratin associated protein 10-12 Neighboring gene keratin associated protein 10-13, pseudogene Neighboring gene ubiquitin conjugating enzyme E2 G2 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

General gene information

Markers

Homology

Clone Names

  • MGC11251

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
regulation of Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tooth mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
stereocilium ISS
Inferred from Sequence or Structural Similarity
more info
 

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)

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_033806.1 RefSeqGene

    Range
    5009..218686
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

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