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    TCP11L2 t-complex 11 like 2 [ Homo sapiens (human) ]

    Gene ID: 255394, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TCP11L2provided by HGNC
    Official Full Name
    t-complex 11 like 2provided by HGNC
    Primary source
    HGNC:HGNC:28627
    See related
    Ensembl:ENSG00000166046 MIM:619889; AllianceGenome:HGNC:28627
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be involved in muscle cell migration and signal transduction. Predicted to be located in cytoskeleton. Predicted to be part of cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 5.7), lung (RPKM 5.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TCP11L2 in Genome Data Viewer
    Location:
    12q23.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (106297935..106347003)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (106265162..106310306)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (106696511..106740781)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4815 Neighboring gene Sharpr-MPRA regulatory region 12855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106696289-106697174 Neighboring gene RNA, U7 small nuclear 94 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr12:106725081-106725582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106791431-106791932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106791933-106792432 Neighboring gene RNA polymerase III subunit B Neighboring gene ReSE screen-validated silencer GRCh37_chr12:106838256-106838461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106870783-106871355 Neighboring gene NANOG hESC enhancer GRCh37_chr12:106884667-106885244 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:106887966-106888130 Neighboring gene uncharacterized LOC100287944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106929421-106929920 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106934851-106935440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106944957-106945458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106974861-106975743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106977232-106977816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106979571-106980156 Neighboring gene Sharpr-MPRA regulatory region 8958 Neighboring gene Sharpr-MPRA regulatory region 7289 Neighboring gene regulatory factor X4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:107038213-107038714 Neighboring gene uncharacterized LOC100505978

    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 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. Genome-wide association study of Tourette's syndrome. Scharf JM, et al. Mol Psychiatry, 2013 Jun. PMID 22889924, Free PMC Article
    2. BioID-based Identification of Skp Cullin F-box (SCF)β-TrCP1/2 E3 Ligase Substrates. Coyaud E, et al. Mol Cell Proteomics, 2015 Jul. PMID 25900982, Free PMC Article
    3. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article
    4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of Tourette's syndrome.
    EBI GWAS Catalog

    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

    • MGC40368

    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 muscle cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    T-complex protein 11-like protein 2
    Names
    t-complex 11, testis-specific-like 2

    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_001286262.2 → NP_001273191.1  T-complex protein 11-like protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001273191.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' exons and contains an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC079174, AC080012, BC017872, BC033617
      Consensus CDS
      CCDS66456.1
      UniProtKB/TrEMBL
      G3V1Z2
      Related
      ENSP00000448952.1, ENST00000547153.5
      Conserved Domains (1) summary
      pfam05794
      Location:77 → 257
      Tcp11; T-complex protein 11

    2. NM_152772.3 → NP_689985.1  T-complex protein 11-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_689985.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC079174, AC080012, BC033617
      Consensus CDS
      CCDS9104.1
      UniProtKB/Swiss-Prot
      B2RA65, G3V1Y9, Q8N4U5
      Related
      ENSP00000299045.3, ENST00000299045.8
      Conserved Domains (1) summary
      pfam05794
      Location:77 → 500
      Tcp11; T-complex protein 11

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      106297935..106347003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428667.1 → XP_047284623.1  T-complex protein 11-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RA65, G3V1Y9, Q8N4U5

    2. XM_017019131.2 → XP_016874620.1  T-complex protein 11-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RA65, G3V1Y9, Q8N4U5
      Conserved Domains (1) summary
      pfam05794
      Location:77 → 500
      Tcp11; T-complex protein 11

    3. XM_047428666.1 → XP_047284622.1  T-complex protein 11-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RA65, G3V1Y9, Q8N4U5

    4. XM_011538129.4 → XP_011536431.1  T-complex protein 11-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011536431.1

      UniProtKB/Swiss-Prot
      B2RA65, G3V1Y9, Q8N4U5
      Conserved Domains (1) summary
      pfam05794
      Location:77 → 500
      Tcp11; T-complex protein 11

    5. XM_017019127.3 → XP_016874616.1  T-complex protein 11-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RA65, G3V1Y9, Q8N4U5
      Conserved Domains (1) summary
      pfam05794
      Location:77 → 500
      Tcp11; T-complex protein 11

    6. XM_017019129.3 → XP_016874618.1  T-complex protein 11-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RA65, G3V1Y9, Q8N4U5
      Conserved Domains (1) summary
      pfam05794
      Location:77 → 500
      Tcp11; T-complex protein 11

    7. XM_011538130.3 → XP_011536432.1  T-complex protein 11-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011536432.1

      UniProtKB/Swiss-Prot
      B2RA65, G3V1Y9, Q8N4U5
      Conserved Domains (1) summary
      pfam05794
      Location:77 → 500
      Tcp11; T-complex protein 11

    8. XM_005268768.5 → XP_005268825.1  T-complex protein 11-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005268825.1

      UniProtKB/Swiss-Prot
      B2RA65, G3V1Y9, Q8N4U5
      Conserved Domains (1) summary
      pfam05794
      Location:77 → 500
      Tcp11; T-complex protein 11

    9. XM_005268767.6 → XP_005268824.1  T-complex protein 11-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005268824.1

      UniProtKB/Swiss-Prot
      B2RA65, G3V1Y9, Q8N4U5
      Conserved Domains (1) summary
      pfam05794
      Location:77 → 500
      Tcp11; T-complex protein 11

    10. XM_017019130.3 → XP_016874619.1  T-complex protein 11-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RA65, G3V1Y9, Q8N4U5
      Conserved Domains (1) summary
      pfam05794
      Location:77 → 500
      Tcp11; T-complex protein 11

    11. XM_017019133.3 → XP_016874622.1  T-complex protein 11-like protein 2 isoform X2

      Conserved Domains (1) summary
      pfam05794
      Location:12 → 432
      Tcp11; T-complex protein 11

    12. XM_011538132.4 → XP_011536434.1  T-complex protein 11-like protein 2 isoform X3

      UniProtKB/TrEMBL
      G3V1Z2
      Conserved Domains (1) summary
      pfam05794
      Location:77 → 320
      Tcp11; T-complex protein 11

    13. XM_047428669.1 → XP_047284625.1  T-complex protein 11-like protein 2 isoform X4

    14. XM_047428671.1 → XP_047284627.1  T-complex protein 11-like protein 2 isoform X4

    15. XM_047428673.1 → XP_047284629.1  T-complex protein 11-like protein 2 isoform X4

    16. XM_047428670.1 → XP_047284626.1  T-complex protein 11-like protein 2 isoform X4

      Related
      ENSP00000448629.1, ENST00000553098.5

    17. XM_047428672.1 → XP_047284628.1  T-complex protein 11-like protein 2 isoform X4

    18. XM_047428668.1 → XP_047284624.1  T-complex protein 11-like protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      106265162..106310306
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371674.1 → XP_054227649.1  T-complex protein 11-like protein 2 isoform X1

    2. XM_054371669.1 → XP_054227644.1  T-complex protein 11-like protein 2 isoform X1

    3. XM_054371672.1 → XP_054227647.1  T-complex protein 11-like protein 2 isoform X1

    4. XM_054371676.1 → XP_054227651.1  T-complex protein 11-like protein 2 isoform X2

    5. XM_054371677.1 → XP_054227652.1  T-complex protein 11-like protein 2 isoform X3

    6. XM_054371679.1 → XP_054227654.1  T-complex protein 11-like protein 2 isoform X4

    7. XM_054371680.1 → XP_054227655.1  T-complex protein 11-like protein 2 isoform X4

    8. XM_054371671.1 → XP_054227646.1  T-complex protein 11-like protein 2 isoform X1

    9. XM_054371670.1 → XP_054227645.1  T-complex protein 11-like protein 2 isoform X1

    10. XM_054371668.1 → XP_054227643.1  T-complex protein 11-like protein 2 isoform X1

    11. XM_054371678.1 → XP_054227653.1  T-complex protein 11-like protein 2 isoform X4

    12. XM_054371673.1 → XP_054227648.1  T-complex protein 11-like protein 2 isoform X1

    13. XM_054371681.1 → XP_054227656.1  T-complex protein 11-like protein 2 isoform X4

    14. XM_054371675.1 → XP_054227650.1  T-complex protein 11-like protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4U5.1 GenPept UniProtKB/Swiss-Prot:Q8N4U5

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