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

Gene ID: 10655, updated on 1-Jun-2020

Summary

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
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

Genomic context

See DMRT2 in Genome Data Viewer
Location:
9p24.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (1003237..1057554)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (1049858..1057554)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1073, pseudogene Neighboring gene doublesex and mab-3 related transcription factor 3 Neighboring gene H3 histone pseudogene 29 Neighboring gene long intergenic non-protein coding RNA 1230 Neighboring gene RPS27A pseudogene 14 Neighboring gene uncharacterized LOC102723803 Neighboring gene RNA, 5S ribosomal pseudogene 279

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
embryonic skeletal system development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of myotome development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of somitogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

Preferred Names
doublesex- and mab-3-related transcription factor 2
Names
doublesex-like 2 protein
terra-like protein

NCBI Reference Sequences (RefSeq)

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_001130865.2NP_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/Swiss-Prot
    Q9Y5R5
    UniProtKB/TrEMBL
    Q05C20
    Related
    ENSP00000371690.3, ENST00000382255.7
    Conserved Domains (1) summary
    pfam00751
    Location:119165
    DM; DM DNA binding domain
  2. NM_001370531.1NP_001357460.1  doublesex- and mab-3-related transcription factor 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL358976
    Conserved Domains (1) summary
    pfam00751
    Location:119165
    DM; DM DNA binding domain
  3. NM_001370532.1NP_001357461.1  doublesex- and mab-3-related transcription factor 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL358976
  4. NM_001370533.1NP_001357462.1  doublesex- and mab-3-related transcription factor 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL358976
    Related
    ENSP00000489226.1, ENST00000635183.1
    Conserved Domains (1) summary
    pfam00751
    Location:119165
    DM; DM DNA binding domain
  5. NM_006557.7NP_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/Swiss-Prot
    Q9Y5R5
    UniProtKB/TrEMBL
    Q05C20, Q5HYK2
    Related
    ENSP00000397494.2, ENST00000412350.6
    Conserved Domains (1) summary
    pfam00751
    Location:119165
    DM; DM DNA binding domain
  6. NM_181872.6NP_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
    Q9Y5R5
    UniProtKB/TrEMBL
    Q05C20
    Related
    ENSP00000350865.2, ENST00000358146.6
    Conserved Domains (1) summary
    pfam00751
    Location:119165
    DM; DM DNA binding domain

RNA

  1. NR_163472.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358976

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    1003237..1057554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517690.2XP_011515992.1  doublesex- and mab-3-related transcription factor 2 isoform X1

    See identical proteins and their annotated locations for XP_011515992.1

    UniProtKB/Swiss-Prot
    Q9Y5R5
    Conserved Domains (1) summary
    pfam00751
    Location:119165
    DM; DM DNA binding domain
  2. XM_011517687.1XP_011515989.1  doublesex- and mab-3-related transcription factor 2 isoform X1

    See identical proteins and their annotated locations for XP_011515989.1

    UniProtKB/Swiss-Prot
    Q9Y5R5
    Conserved Domains (1) summary
    pfam00751
    Location:119165
    DM; DM DNA binding domain
  3. XM_017014213.1XP_016869702.1  doublesex- and mab-3-related transcription factor 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5R5
    Conserved Domains (1) summary
    pfam00751
    Location:119165
    DM; DM DNA binding domain
  4. XM_017014214.1XP_016869703.1  doublesex- and mab-3-related transcription factor 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5R5
    Related
    ENSP00000371686.3, ENST00000382251.7
    Conserved Domains (1) summary
    pfam00751
    Location:119165
    DM; DM DNA binding domain
  5. XM_017014215.1XP_016869704.1  doublesex- and mab-3-related transcription factor 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5R5
    Conserved Domains (1) summary
    pfam00751
    Location:119165
    DM; DM DNA binding domain
  6. XM_024447384.1XP_024303152.1  doublesex- and mab-3-related transcription factor 2 isoform X2

  7. XM_011517694.2XP_011515996.1  doublesex- and mab-3-related transcription factor 2 isoform X2

    See identical proteins and their annotated locations for XP_011515996.1

    UniProtKB/Swiss-Prot
    Q9Y5R5
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