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    DMRT2 doublesex and mab-3 related transcription factor 2 [ Homo sapiens (human) ]

    Gene ID: 10655, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DMRT2provided by HGNC
    Official Full Name
    doublesex and mab-3 related transcription factor 2provided by HGNC
    Primary source
    HGNC:HGNC:2935
    See related
    Ensembl:ENSG00000173253 MIM:604935; AllianceGenome:HGNC:2935
    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
    DSXL-2
    Summary
    The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]
    Expression
    Biased expression in kidney (RPKM 4.2), fat (RPKM 1.8) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DMRT2 in Genome Data Viewer
    Location:
    9p24.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (1050357..1057552)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (1004786..1059221)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (1050357..1057552)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:1046691-1047556 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:1047960-1048147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:1050129-1050998 Neighboring gene H3 histone pseudogene 29 Neighboring gene long intergenic non-coding adipose anti-inflammatory Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:1083793-1084293 Neighboring gene RPS27A pseudogene 14 Neighboring gene Sharpr-MPRA regulatory region 3102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:1224129-1224749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28122 Neighboring gene NANOG hESC enhancer GRCh37_chr9:1273747-1274248 Neighboring gene uncharacterized LOC102723803 Neighboring gene RNA, 5S ribosomal pseudogene 279

    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. The human doublesex-related gene, DMRT2, is homologous to a gene involved in somitogenesis and encodes a potential bicistronic transcript. Ottolenghi C, et al. Genomics, 2000 Mar 1. PMID 10729224
    2. Expression and differential regulation of human TERRA at several chromosome ends. Feretzaki M, et al. RNA, 2019 Nov. PMID 31350341, Free PMC Article
    3. Prognostic impact of telomeric repeat-containing RNA expression on long-term oncologic outcomes in colorectal cancer. Bae SU, et al. Medicine (Baltimore), 2019 Apr. PMID 30946316, Free PMC Article
    4. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. Raymond CS, et al. Hum Mol Genet, 1999 Jun. PMID 10332030
    5. Heat shock factor 1 promotes TERRA transcription and telomere protection upon heat stress. Koskas S, et al. Nucleic Acids Res, 2017 Jun 20. PMID 28369628, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Protein Phosphatase 2A-Dependent Mitotic hnRNPA1 Dephosphorylation and TERRA Formation Facilitate Telomere Capping.
      Title: Protein Phosphatase 2A-Dependent Mitotic hnRNPA1 Dephosphorylation and TERRA Formation Facilitate Telomere Capping.
    2. TRF2 recruits nucleolar protein TCOF1 to coordinate telomere transcription and replication.
      Title: TRF2 recruits nucleolar protein TCOF1 to coordinate telomere transcription and replication.
    3. Long interspersed element-1 ribonucleoprotein particles protect telomeric ends in alternative lengthening of telomeres dependent cells.
      Title: Long interspersed element-1 ribonucleoprotein particles protect telomeric ends in alternative lengthening of telomeres dependent cells.
    4. study confirms that TERRA corresponds to a large gene family transcribed from multiple chromosome ends where we identified two types of TERRA promoters, only one of which is regulated by DNA methylation
      Title: Expression and differential regulation of human TERRA at several chromosome ends.
    5. This study showed that 18p TERRA expression was marginally significantly associated with preoperative CEA and significantly associated with telomere length, rendering it a potential prognostic factor for long-term oncologic outcomes in CRC.
      Title: Prognostic impact of telomeric repeat-containing RNA expression on long-term oncologic outcomes in colorectal cancer.
    6. Evidence for the essential function of HSF1 in the transcriptional activation of TERRA and in telomere protection upon stress.
      Title: Heat shock factor 1 promotes TERRA transcription and telomere protection upon heat stress.
    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

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-08-22)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-08-22)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
    EBI GWAS Catalog
    Wnt signaling and Dupuytren's disease.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    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 molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in embryonic skeletal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myotome development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of myotome development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of somitogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sex differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in 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 2
    Names
    doublesex-like 2 protein
    terra-like 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.

    Genomic

    1. NG_017051.1 RefSeqGene

      Range
      5012..12207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130865.3 → NP_001124337.1  doublesex- and mab-3-related transcription factor 2 isoform 1

      See identical proteins and their annotated locations for NP_001124337.1

      Status: REVIEWED

      Source sequence(s)
      AA771859, AF130729, BC030204
      Consensus CDS
      CCDS6445.1
      UniProtKB/TrEMBL
      Q05C20
      Related
      ENSP00000371690.3, ENST00000382255.7
      Conserved Domains (1) summary
      pfam00751
      Location:119 → 165
      DM; DM DNA binding domain

    2. NM_001370531.1 → NP_001357460.1  doublesex- and mab-3-related transcription factor 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL358976
      Consensus CDS
      CCDS6445.1
      UniProtKB/TrEMBL
      Q05C20
      Conserved Domains (1) summary
      pfam00751
      Location:119 → 165
      DM; DM DNA binding domain

    3. NM_001370532.1 → NP_001357461.1  doublesex- and mab-3-related transcription factor 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL358976
      UniProtKB/TrEMBL
      A0A0A0MR18

    4. NM_001370533.1 → NP_001357462.1  doublesex- and mab-3-related transcription factor 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL358976
      Consensus CDS
      CCDS6445.1
      UniProtKB/TrEMBL
      Q05C20
      Conserved Domains (1) summary
      pfam00751
      Location:119 → 165
      DM; DM DNA binding domain

    5. NM_001387557.1 → NP_001374486.1  doublesex- and mab-3-related transcription factor 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL358976
      Consensus CDS
      CCDS6445.1
      UniProtKB/TrEMBL
      Q05C20
      Related
      ENSP00000489226.1, ENST00000635183.1
      Conserved Domains (1) summary
      pfam00751
      Location:119 → 165
      DM; DM DNA binding domain

    6. NM_001387558.1 → NP_001374487.1  doublesex- and mab-3-related transcription factor 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL358976
      Consensus CDS
      CCDS6444.1
      UniProtKB/Swiss-Prot
      B1ANC0, B9EGJ1, Q9NPG6, Q9NQR6, Q9Y5R5
      Conserved Domains (1) summary
      pfam00751
      Location:119 → 165
      DM; DM DNA binding domain

    7. NM_001387559.1 → NP_001374488.1  doublesex- and mab-3-related transcription factor 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL358976
      Consensus CDS
      CCDS6444.1
      UniProtKB/Swiss-Prot
      B1ANC0, B9EGJ1, Q9NPG6, Q9NQR6, Q9Y5R5
      Conserved Domains (1) summary
      pfam00751
      Location:119 → 165
      DM; DM DNA binding domain

    8. NM_001387560.1 → NP_001374489.1  doublesex- and mab-3-related transcription factor 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL358976
      UniProtKB/TrEMBL
      A0A0A0MR18
      Related
      ENST00000634526.1

    9. NM_006557.7 → NP_006548.1  doublesex- and mab-3-related transcription factor 2 isoform 1

      See identical proteins and their annotated locations for NP_006548.1

      Status: REVIEWED

      Source sequence(s)
      AL358976
      Consensus CDS
      CCDS6445.1
      UniProtKB/TrEMBL
      Q05C20
      Related
      ENSP00000397494.2, ENST00000412350.6
      Conserved Domains (1) summary
      pfam00751
      Location:119 → 165
      DM; DM DNA binding domain

    10. NM_181872.6 → NP_870987.2  doublesex- and mab-3-related transcription factor 2 isoform 2

      See identical proteins and their annotated locations for NP_870987.2

      Status: REVIEWED

      Source sequence(s)
      AL358976
      Consensus CDS
      CCDS6444.1
      UniProtKB/Swiss-Prot
      B1ANC0, B9EGJ1, Q9NPG6, Q9NQR6, Q9Y5R5
      Related
      ENSP00000350865.2, ENST00000358146.7
      Conserved Domains (1) summary
      pfam00751
      Location:119 → 165
      DM; DM DNA binding domain

    RNA

    1. NR_163472.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358976

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      1050357..1057552
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014214.2 → XP_016869703.1  doublesex- and mab-3-related transcription factor 2 isoform X1

      UniProtKB/Swiss-Prot
      B1ANC0, B9EGJ1, Q9NPG6, Q9NQR6, Q9Y5R5
      Related
      ENSP00000371686.3, ENST00000382251.7
      Conserved Domains (1) summary
      pfam00751
      Location:119 → 165
      DM; DM DNA binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      1004786..1059221
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361788.1 → XP_054217763.1  doublesex- and mab-3-related transcription factor 2 isoform X1

      UniProtKB/Swiss-Prot
      B1ANC0, B9EGJ1, Q9NPG6, Q9NQR6, Q9Y5R5

    2. XM_054361790.1 → XP_054217765.1  doublesex- and mab-3-related transcription factor 2 isoform X2

      UniProtKB/TrEMBL
      Q05C20

    3. XM_054361791.1 → XP_054217766.1  doublesex- and mab-3-related transcription factor 2 isoform X2

      UniProtKB/TrEMBL
      Q05C20

    4. XM_054361786.1 → XP_054217761.1  doublesex- and mab-3-related transcription factor 2 isoform X1

      UniProtKB/Swiss-Prot
      B1ANC0, B9EGJ1, Q9NPG6, Q9NQR6, Q9Y5R5

    5. XM_054361787.1 → XP_054217762.1  doublesex- and mab-3-related transcription factor 2 isoform X1

      UniProtKB/Swiss-Prot
      B1ANC0, B9EGJ1, Q9NPG6, Q9NQR6, Q9Y5R5

    6. XM_054361789.1 → XP_054217764.1  doublesex- and mab-3-related transcription factor 2 isoform X1

      UniProtKB/Swiss-Prot
      B1ANC0, B9EGJ1, Q9NPG6, Q9NQR6, Q9Y5R5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5R5.2 GenPept UniProtKB/Swiss-Prot:Q9Y5R5

    Gene LinkOut

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

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