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    TBATA thymus, brain and testes associated [ Homo sapiens (human) ]

    Gene ID: 219793, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TBATAprovided by HGNC
    Official Full Name
    thymus, brain and testes associatedprovided by HGNC
    Primary source
    HGNC:HGNC:23511
    See related
    Ensembl:ENSG00000166220 MIM:612640; AllianceGenome:HGNC:23511
    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
    SPATIAL; C10orf27
    Summary
    This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
    Expression
    Restricted expression toward testis (RPKM 6.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See TBATA in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (70771238..70785377, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (71641062..71655191, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72530994..72545133, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:72385043-72385632 Neighboring gene perforin 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72391517-72392148 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:72396829-72397014 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17237 Neighboring gene Sharpr-MPRA regulatory region 11165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3511 Neighboring gene CRISPRi-validated cis-regulatory element chr10.2252 Neighboring gene Sharpr-MPRA regulatory region 4371 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72442365-72443210 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 14 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:72447939-72448583 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72453261-72453762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72453763-72454262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72461609-72462110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72462111-72462610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72465820-72466320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72497279-72497778 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17283 Neighboring gene Sharpr-MPRA regulatory region 12298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72502823-72503626 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72516391-72517350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72521542-72522311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72536007-72536834 Neighboring gene ribosomal protein S26 pseudogene 40 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2451 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2453 Neighboring gene sphingosine-1-phosphate lyase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Peptides presented by HLA class I molecules in the human thymus. Espinosa G, et al. J Proteomics, 2013 Dec 6. PMID 24029068
    2. Evidence for association of chromosome 10 open reading frame (C10orf27) gene polymorphisms and multiple sclerosis. Goertsches R, et al. Mult Scler, 2008 Apr. PMID 18208870
    3. Dynamic distribution of Spatial during mouse spermatogenesis and its interaction with the kinesin KIF17b. Saade M, et al. Exp Cell Res, 2007 Feb 1. PMID 17196196
    4. Tbata modulates thymic stromal cell proliferation and thymus function. Flomerfelt FA, et al. J Exp Med, 2010 Oct 25. PMID 20937703, Free PMC Article
    5. Spatial (Tbata) expression in mature medullary thymic epithelial cells. Saade M, et al. Eur J Immunol, 2010 Feb. PMID 19918778

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional analysis of the orthologous mouse protein.
      Title: Neuronal distribution of spatial in the developing cerebellum and hippocampus and its somatodendritic association with the kinesin motor KIF17.
    2. Functional analysis of the orthologous mouse protein.
      Title: Dynamic distribution of Spatial during mouse spermatogenesis and its interaction with the kinesin KIF17b.
    3. Functional analysis of the orthologous mouse protein.
      Title: Spatial (Tbata) expression in mature medullary thymic epithelial cells.
    4. Functional analysis of the orthologous mouse protein.
      Title: Tbata modulates thymic stromal cell proliferation and thymus function.
    5. C10orf27 is a candidate gene for multiple sclerosis susceptibility and pathogenesis
      Title: Evidence for association of chromosome 10 open reading frame (C10orf27) gene polymorphisms and multiple sclerosis.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Evidence for association of chromosome 10 open reading frame (C10orf27) gene polymorphisms and multiple sclerosis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32820

    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 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein TBATA
    Names
    stromal protein associated with thymii and lymph node homolog
    thymus, brain and testes-associated protein

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001318241.2 → NP_001305170.1  protein TBATA isoform a

      Status: REVIEWED

      Source sequence(s)
      AL358817
      Consensus CDS
      CCDS81471.1
      UniProtKB/TrEMBL
      A0A0A0MSR7, B7ZMN5
      Related
      ENSP00000400224.3, ENST00000456372.4
      Conserved Domains (1) summary
      pfam15256
      Location:77 → 271
      SPATIAL; SPATIAL

    2. NM_001318242.2 → NP_001305171.1  protein TBATA isoform b

      Status: REVIEWED

      Source sequence(s)
      BC137543, DB512647, DC398035, HY289269
      Consensus CDS
      CCDS7308.1
      UniProtKB/Swiss-Prot
      A4QPA8, B2RPQ2, Q5T4G2, Q96M53
      UniProtKB/TrEMBL
      B7ZMN4, B7ZMN5
      Related
      ENSP00000509602.1, ENST00000692183.1
      Conserved Domains (1) summary
      pfam15256
      Location:77 → 270
      SPATIAL; SPATIAL

    3. NM_001318243.2 → NP_001305172.1  protein TBATA isoform c

      Status: REVIEWED

      Source sequence(s)
      BC144692, DB512647, HY289269
      Consensus CDS
      CCDS91256.1
      UniProtKB/TrEMBL
      A0A8I5KS30, B7ZMN4
      Related
      ENSP00000509608.1, ENST00000689622.1
      Conserved Domains (1) summary
      pfam15256
      Location:77 → 269
      SPATIAL; SPATIAL

    4. NM_152710.4 → NP_689923.3  protein TBATA isoform b

      Status: REVIEWED

      Source sequence(s)
      BC137544, DB512647, HY289269
      Consensus CDS
      CCDS7308.1
      UniProtKB/Swiss-Prot
      A4QPA8, B2RPQ2, Q5T4G2, Q96M53
      UniProtKB/TrEMBL
      B7ZMN4, B7ZMN5
      Related
      ENSP00000299290.1, ENST00000299290.5
      Conserved Domains (1) summary
      pfam15256
      Location:77 → 270
      SPATIAL; SPATIAL

    RNA

    1. NR_134531.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BC139728, DC398035, HY289269

    2. NR_134532.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358817

    3. NR_134533.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358817

    4. NR_134534.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358817

    5. NR_165441.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358817

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      70771238..70785377 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015860.2 → XP_016871349.1  protein TBATA isoform X15

    2. XM_017015852.2 → XP_016871341.1  protein TBATA isoform X8

    3. XM_017015853.2 → XP_016871342.1  protein TBATA isoform X9

      UniProtKB/TrEMBL
      B7ZMN5

    4. XM_017015856.2 → XP_016871345.1  protein TBATA isoform X12

      UniProtKB/TrEMBL
      B7ZMN5

    5. XM_017015848.2 → XP_016871337.1  protein TBATA isoform X4

    6. XM_017015849.2 → XP_016871338.1  protein TBATA isoform X5

    7. XM_017015847.2 → XP_016871336.1  protein TBATA isoform X3

    8. XM_017015846.2 → XP_016871335.1  protein TBATA isoform X2

    9. XM_017015845.2 → XP_016871334.1  protein TBATA isoform X1

    10. XM_017015858.2 → XP_016871347.1  protein TBATA isoform X14

      UniProtKB/TrEMBL
      B7Z8G0

    11. XM_017015855.2 → XP_016871344.1  protein TBATA isoform X11

      UniProtKB/TrEMBL
      B7ZMN5

    12. XM_017015854.2 → XP_016871343.1  protein TBATA isoform X10

      UniProtKB/TrEMBL
      B7ZMN5

    13. XM_017015857.2 → XP_016871346.1  protein TBATA isoform X13

      UniProtKB/TrEMBL
      B7ZMN5

    14. XM_047424720.1 → XP_047280676.1  protein TBATA isoform X14

    15. XM_047424721.1 → XP_047280677.1  protein TBATA isoform X16

    16. XM_017015859.3 → XP_016871348.1  protein TBATA isoform X14

      UniProtKB/TrEMBL
      B7Z8G0

    17. XM_047424722.1 → XP_047280678.1  protein TBATA isoform X18

      Related
      ENSP00000508807.1, ENST00000692747.1

    18. XM_017015861.3 → XP_016871350.1  protein TBATA isoform X17

    19. XM_017015851.2 → XP_016871340.1  protein TBATA isoform X7

    20. XM_017015850.2 → XP_016871339.1  protein TBATA isoform X6

    21. XM_017015862.2 → XP_016871351.1  protein TBATA isoform X19

    RNA

    1. XR_001747058.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      71641062..71655191 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365028.1 → XP_054221003.1  protein TBATA isoform X15

    2. XM_054365019.1 → XP_054220994.1  protein TBATA isoform X8

    3. XM_054365020.1 → XP_054220995.1  protein TBATA isoform X9

    4. XM_054365015.1 → XP_054220990.1  protein TBATA isoform X4

    5. XM_054365016.1 → XP_054220991.1  protein TBATA isoform X5

    6. XM_054365026.1 → XP_054221001.1  protein TBATA isoform X14

    7. XM_054365023.1 → XP_054220998.1  protein TBATA isoform X12

    8. XM_054365014.1 → XP_054220989.1  protein TBATA isoform X3

    9. XM_054365013.1 → XP_054220988.1  protein TBATA isoform X2

    10. XM_054365012.1 → XP_054220987.1  protein TBATA isoform X1

    11. XM_054365022.1 → XP_054220997.1  protein TBATA isoform X11

    12. XM_054365021.1 → XP_054220996.1  protein TBATA isoform X10

    13. XM_054365024.1 → XP_054220999.1  protein TBATA isoform X13

    14. XM_054365025.1 → XP_054221000.1  protein TBATA isoform X14

    15. XM_054365029.1 → XP_054221004.1  protein TBATA isoform X16

    16. XM_054365027.1 → XP_054221002.1  protein TBATA isoform X14

    17. XM_054365031.1 → XP_054221006.1  protein TBATA isoform X18

    18. XM_054365030.1 → XP_054221005.1  protein TBATA isoform X17

    19. XM_054365018.1 → XP_054220993.1  protein TBATA isoform X7

    20. XM_054365017.1 → XP_054220992.1  protein TBATA isoform X6

    21. XM_054365032.1 → XP_054221007.1  protein TBATA isoform X19

    RNA

    1. XR_008488175.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M53.3 GenPept UniProtKB/Swiss-Prot:Q96M53

    Gene LinkOut

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