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

Gene ID: 219793, updated on 3-Apr-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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Location:
10q22.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (70771238..70785377, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (71641062..71655191, complement)
105.20220307 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)

Genotypes

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_2023_10

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

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