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    DMRTC2 DMRT like family C2 [ Homo sapiens (human) ]

    Gene ID: 63946, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DMRTC2provided by HGNC
    Official Full Name
    DMRT like family C2provided by HGNC
    Primary source
    HGNC:HGNC:13911
    See related
    Ensembl:ENSG00000142025 MIM:614806; AllianceGenome:HGNC:13911
    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
    Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in germ cell development; regulation of transcription by RNA polymerase II; and sex differentiation. Predicted to act upstream of or within male gamete generation and positive regulation of histone H3-K9 methylation. Predicted to be located in XY body. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 14.6) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19q13.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41844916..41852333)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44664392..44671814)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42349105..42356401)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 52 Neighboring gene LY6/PLAUR domain containing 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42364028-42364783 Neighboring gene ribosomal protein S19 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10673 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42373545-42374103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14685 Neighboring gene microRNA 6797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10674 Neighboring gene CD79a molecule

    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. Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination. Ottolenghi C, et al. Genomics, 2002 Mar. PMID 11863363
    2. Impact of cytosine methylation on DNA binding specificities of human transcription factors. Yin Y, et al. Science, 2017 May 5. PMID 28473536, Free PMC Article
    3. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049
    4. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, et al. Cell, 2010 Mar 5. PMID 20211142, Free PMC Article
    5. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article

    See all (10) 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

    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

    Function Evidence Code Pubs
    NOT enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    NOT enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in heterochromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male meiosis I IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sex differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatid nucleus elongation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in XY body IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    doublesex- and mab-3-related transcription factor C2

    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_001040283.3 → NP_001035373.1  doublesex- and mab-3-related transcription factor C2

      See identical proteins and their annotated locations for NP_001035373.1

      Status: VALIDATED

      Source sequence(s)
      AC010616, AC243967, AJ291669, DB026313
      Consensus CDS
      CCDS33034.1
      UniProtKB/Swiss-Prot
      Q8IXT2, Q8N6Q2, Q96M39, Q96SD4
      Related
      ENSP00000269945.2, ENST00000269945.8
      Conserved Domains (2) summary
      pfam00751
      Location:38 → 84
      DM; DM DNA binding domain
      pfam15791
      Location:240 → 365
      DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      41844916..41852333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027128.2 → XP_016882617.1  doublesex- and mab-3-related transcription factor C2 isoform X3

      UniProtKB/TrEMBL
      B4DX56
      Conserved Domains (2) summary
      pfam00751
      Location:38 → 84
      DM; DM DNA binding domain
      pfam15791
      Location:240 → 416
      DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

    2. XM_017027126.3 → XP_016882615.1  doublesex- and mab-3-related transcription factor C2 isoform X3

      UniProtKB/TrEMBL
      B4DX56
      Conserved Domains (2) summary
      pfam00751
      Location:38 → 84
      DM; DM DNA binding domain
      pfam15791
      Location:240 → 416
      DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

    3. XM_017027127.3 → XP_016882616.1  doublesex- and mab-3-related transcription factor C2 isoform X3

      UniProtKB/TrEMBL
      B4DX56
      Conserved Domains (2) summary
      pfam00751
      Location:38 → 84
      DM; DM DNA binding domain
      pfam15791
      Location:240 → 416
      DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

    4. XM_017027125.2 → XP_016882614.1  doublesex- and mab-3-related transcription factor C2 isoform X3

      UniProtKB/TrEMBL
      B4DX56
      Related
      ENSP00000469525.1, ENST00000596827.5
      Conserved Domains (2) summary
      pfam00751
      Location:38 → 84
      DM; DM DNA binding domain
      pfam15791
      Location:240 → 416
      DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

    5. XM_011527216.3 → XP_011525518.1  doublesex- and mab-3-related transcription factor C2 isoform X5

      Related
      ENSP00000472159.1, ENST00000601660.5
      Conserved Domains (1) summary
      pfam00751
      Location:43 → 89
      DM; DM DNA binding domain

    6. XM_017027123.2 → XP_016882612.1  doublesex- and mab-3-related transcription factor C2 isoform X1

    7. XM_017027129.2 → XP_016882618.1  doublesex- and mab-3-related transcription factor C2 isoform X4

    8. XM_017027124.3 → XP_016882613.1  doublesex- and mab-3-related transcription factor C2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      44664392..44671814
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321736.1 → XP_054177711.1  doublesex- and mab-3-related transcription factor C2 isoform X3

      UniProtKB/TrEMBL
      B4DX56

    2. XM_054321735.1 → XP_054177710.1  doublesex- and mab-3-related transcription factor C2 isoform X3

      UniProtKB/TrEMBL
      B4DX56

    3. XM_054321734.1 → XP_054177709.1  doublesex- and mab-3-related transcription factor C2 isoform X3

      UniProtKB/TrEMBL
      B4DX56

    4. XM_054321733.1 → XP_054177708.1  doublesex- and mab-3-related transcription factor C2 isoform X3

      UniProtKB/TrEMBL
      B4DX56

    5. XM_054321738.1 → XP_054177713.1  doublesex- and mab-3-related transcription factor C2 isoform X5

    6. XM_054321731.1 → XP_054177706.1  doublesex- and mab-3-related transcription factor C2 isoform X1

    7. XM_054321737.1 → XP_054177712.1  doublesex- and mab-3-related transcription factor C2 isoform X4

    8. XM_054321732.1 → XP_054177707.1  doublesex- and mab-3-related transcription factor C2 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033052.1: Suppressed sequence

      Description
      NM_033052.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXT2.2 GenPept UniProtKB/Swiss-Prot:Q8IXT2

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