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    TLDC2 TBC/LysM-associated domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 140711, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TLDC2provided by HGNC
    Official Full Name
    TBC/LysM-associated domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:16112
    See related
    Ensembl:ENSG00000101342 AllianceGenome:HGNC:16112
    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
    Also known as
    C20orf118
    Summary
    Predicted to be involved in response to oxidative stress. Predicted to act upstream of or within negative regulation of oxidative stress-induced neuron death. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in appendix (RPKM 10.6), small intestine (RPKM 8.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TLDC2 in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36876121..36894235)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38597382..38618601)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35504524..35522638)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35410629-35411130 Neighboring gene microtubule crosslinking factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35478413-35478912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35483021-35483521 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35484024-35484524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35485529-35486030 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35486031-35486531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35500385-35500891 Neighboring gene RNA, 7SL, cytoplasmic 156, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35515591-35516313 Neighboring gene SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:35575178-35576013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12883 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:35604082-35604653 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35604654-35605224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35618031-35618532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35618533-35619032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35628373-35629300 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35640175-35641116 Neighboring gene RB transcriptional corepressor like 1 Neighboring gene RPS3A pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17826 Neighboring gene RPS27A pseudogene 3

    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. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. Choudhury NR, et al. BMC Biol, 2017 Nov 8. PMID 29117863, Free PMC Article
    2. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    3. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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

    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    TLD domain-containing protein 2
    Names
    TBC/LysM-associated domain-containing protein 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_001304783.1 → NP_001291712.1  TLD domain-containing protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AI537606, AK123544, BC127688, BG163960, BY994247
      UniProtKB/Swiss-Prot
      A0PJX2
      Conserved Domains (1) summary
      smart00584
      Location:53 → 180
      TLDc; domain in TBC and LysM domain containing proteins

    2. NM_080628.3 → NP_542195.1  TLD domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_542195.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI537606, AK123544, AL079335, BC127688
      Consensus CDS
      CCDS33465.1
      UniProtKB/Swiss-Prot
      A0PJX2, B3KVU8
      Related
      ENSP00000217320.3, ENST00000217320.8
      Conserved Domains (1) summary
      smart00584
      Location:53 → 212
      TLDc; domain in TBC and LysM domain containing proteins

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      36876121..36894235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027674.2 → XP_016883163.1  TLD domain-containing protein 2 isoform X1

      Conserved Domains (1) summary
      smart00584
      Location:1 → 116
      TLDc; domain in TBC and LysM domain containing proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      38597382..38618601
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323011.1 → XP_054178986.1  TLD domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A0PJX2, B3KVU8

    2. XM_054323012.1 → XP_054178987.1  TLD domain-containing protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0PJX2.1 GenPept UniProtKB/Swiss-Prot:A0PJX2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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