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

Gene ID: 10655, updated on 14-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
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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)

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
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
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

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