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Protein

Doublesex- and mab-3-related transcription factor 2

Gene

DMRT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Transcriptional activator that directly regulates early activation of the myogenic determination gene MYF5 by binding in a sequence-specific manner to the early epaxial enhancer element of it. Involved in somitogenesis during embryogenesis and somite development and differentiation into sclerotome and dermomyotome. Required for the initiation and/or maintenance of proper organization of the sclerotome, dermomyotome and myotome (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi123 – 170DMPROSITE-ProRule annotationAdd BLAST48

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Doublesex- and mab-3-related transcription factor 2
Alternative name(s):
Doublesex-like 2 protein
Short name:
DSXL-2
Gene namesi
Name:DMRT2
Synonyms:DSXL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:2935. DMRT2.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi10655.
MalaCardsiDMRT2.
OpenTargetsiENSG00000173253.
Orphaneti242. 46,XY complete gonadal dysgenesis.
PharmGKBiPA27382.

Polymorphism and mutation databases

BioMutaiDMRT2.
DMDMi334302783.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002070481 – 561Doublesex- and mab-3-related transcription factor 2Add BLAST561

Proteomic databases

PaxDbiQ9Y5R5.
PeptideAtlasiQ9Y5R5.
PRIDEiQ9Y5R5.

PTM databases

iPTMnetiQ9Y5R5.
PhosphoSitePlusiQ9Y5R5.

Expressioni

Tissue specificityi

Expressed in testis, kidney and skeletal muscle.

Gene expression databases

BgeeiENSG00000173253.
CleanExiHS_DMRT2.
ExpressionAtlasiQ9Y5R5. baseline and differential.
GenevisibleiQ9Y5R5. HS.

Organism-specific databases

HPAiHPA029297.

Interactioni

Subunit structurei

Homodimer.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115898. 1 interactor.
STRINGi9606.ENSP00000305785.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5R5.
SMRiQ9Y5R5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DMRT family.Curated
Contains 1 DM DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3815. Eukaryota.
ENOG410XSK9. LUCA.
GeneTreeiENSGT00550000074486.
HOGENOMiHOG000049088.
HOVERGENiHBG055968.
InParanoidiQ9Y5R5.
KOiK19489.
OMAiETYVGGT.
OrthoDBiEOG091G0R96.
PhylomeDBiQ9Y5R5.
TreeFamiTF317837.

Family and domain databases

Gene3Di4.10.1040.10. 1 hit.
InterProiIPR001275. DM_DNA-bd.
IPR026607. DMRT/dsx/mab-3.
[Graphical view]
PANTHERiPTHR12322. PTHR12322. 1 hit.
PfamiPF00751. DM. 1 hit.
[Graphical view]
SMARTiSM00301. DM. 1 hit.
[Graphical view]
SUPFAMiSSF82927. SSF82927. 1 hit.
PROSITEiPS40000. DM_1. 1 hit.
PS50809. DM_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y5R5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MADPQAGSAA GDWEIDVESL ELEEDVCGAP RSTPPGPSPP PADGDCEDDE
60 70 80 90 100
DDDGVDEDAE EEGDGEEAGA SPGMPGQPEQ RGGPQPRPPL APQASPAGTG
110 120 130 140 150
PRERCTPAGG GAEPRKLSRT PKCARCRNHG VVSCLKGHKR FCRWRDCQCA
160 170 180 190 200
NCLLVVERQR VMAAQVALRR QQATEDKKGL SGKQNNFERK AVYQRQVRAP
210 220 230 240 250
SLLAKSILEG YRPIPAETYV GGTFPLPPPV SDRMRKRRAF ADKELENIML
260 270 280 290 300
EREYKEREML ETSQAAALFL PNRMVPGPDY NSYKSAYSPS PVEPPSKDFC
310 320 330 340 350
NFLPTCLDLT MQYSGSGNME LISSNVSVAT TYRQYPLSSR FLVWPKCGPI
360 370 380 390 400
SDTLLYQQCL LNATTSVQAL KPGASWDLKG ARVQDGLSAE QDMMPSKLEG
410 420 430 440 450
SLVLPHTPEI QTTRSDLQGH QAVPERSAFS PPRRNFSPIV DTDSLAAQGH
460 470 480 490 500
VLTKISKENT RHPLPLRHNP FHSLFQQTLT DKSGPELKTP FVKEAFEETP
510 520 530 540 550
KKHRECLVKD NQKYTFTIDR CAKDLFVAKQ VGTKLSVNEP LSFSVESILK
560
RPSSAITRVS Q
Length:561
Mass (Da):61,814
Last modified:May 31, 2011 - v2
Checksum:i17D856C78EBB43CB
GO
Isoform 2 (identifier: Q9Y5R5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-226: GYRPIPAETYVGGTFPL → VLLGLFYSYYVYIMNHL
     227-561: Missing.

Note: Produced by DMRT2 bicistronic transcripts (AF284223/AF284224) from non-overlapping reading frame, according to PubMed:10729224.
Show »
Length:226
Mass (Da):24,469
Checksum:iD6DE6CB7EF5EDD43
GO
Isoform 3 (identifier: Q9Y5R5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-233: Missing.

Note: Produced by DMRT2 bicistronic transcripts (AF284223/AF284224) from non-overlapping reading frame, according to PubMed:10729224.
Show »
Length:328
Mass (Da):36,884
Checksum:i7E02085D125017DE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti329A → G in AAF86292 (PubMed:10729224).Curated1
Sequence conflicti329A → G in AAF86294 (PubMed:10729224).Curated1
Sequence conflicti329A → G in AAF86295 (PubMed:10729224).Curated1
Sequence conflicti372P → H in AAF86292 (PubMed:10729224).Curated1
Sequence conflicti372P → H in AAF86294 (PubMed:10729224).Curated1
Sequence conflicti372P → H in AAF86295 (PubMed:10729224).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067719381A → P.1 PublicationCorresponds to variant rs3824419dbSNPEnsembl.1
Natural variantiVAR_067720458E → Q.Corresponds to variant rs17641078dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0412471 – 233Missing in isoform 3. 1 PublicationAdd BLAST233
Alternative sequenceiVSP_041248210 – 226GYRPI…GTFPL → VLLGLFYSYYVYIMNHL in isoform 2. 3 PublicationsAdd BLAST17
Alternative sequenceiVSP_041249227 – 561Missing in isoform 2. 3 PublicationsAdd BLAST335

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF130729 mRNA. Translation: AAD40475.1.
AF284223 mRNA. Translation: AAF86291.1.
AF284223 mRNA. Translation: AAF86292.1.
AF284224 mRNA. Translation: AAF86293.1.
AF284224 mRNA. Translation: AAF86294.1.
AF284225 mRNA. Translation: AAF86295.1.
Y19052 mRNA. Translation: CAB59891.1.
AL358976 Genomic DNA. Translation: CAH70589.1.
CH471071 Genomic DNA. Translation: EAW58816.1.
BC136493 mRNA. Translation: AAI36494.1.
CCDSiCCDS6444.1. [Q9Y5R5-1]
CCDS6445.1. [Q9Y5R5-2]
RefSeqiNP_001124337.1. NM_001130865.2. [Q9Y5R5-2]
NP_006548.1. NM_006557.6. [Q9Y5R5-2]
NP_870987.2. NM_181872.4. [Q9Y5R5-1]
XP_011515989.1. XM_011517687.1. [Q9Y5R5-1]
XP_011515992.1. XM_011517690.2. [Q9Y5R5-1]
XP_011515996.1. XM_011517694.2. [Q9Y5R5-3]
XP_016869702.1. XM_017014213.1. [Q9Y5R5-1]
XP_016869703.1. XM_017014214.1. [Q9Y5R5-1]
XP_016869704.1. XM_017014215.1. [Q9Y5R5-1]
XP_016869705.1. XM_017014216.1. [Q9Y5R5-2]
UniGeneiHs.59506.

Genome annotation databases

EnsembliENST00000259622; ENSP00000259622; ENSG00000173253. [Q9Y5R5-2]
ENST00000358146; ENSP00000350865; ENSG00000173253. [Q9Y5R5-1]
ENST00000382251; ENSP00000371686; ENSG00000173253. [Q9Y5R5-1]
ENST00000382255; ENSP00000371690; ENSG00000173253. [Q9Y5R5-2]
ENST00000412350; ENSP00000397494; ENSG00000173253. [Q9Y5R5-2]
ENST00000635183; ENSP00000489226; ENSG00000173253. [Q9Y5R5-2]
GeneIDi10655.
KEGGihsa:10655.
UCSCiuc003zhb.5. human. [Q9Y5R5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF130729 mRNA. Translation: AAD40475.1.
AF284223 mRNA. Translation: AAF86291.1.
AF284223 mRNA. Translation: AAF86292.1.
AF284224 mRNA. Translation: AAF86293.1.
AF284224 mRNA. Translation: AAF86294.1.
AF284225 mRNA. Translation: AAF86295.1.
Y19052 mRNA. Translation: CAB59891.1.
AL358976 Genomic DNA. Translation: CAH70589.1.
CH471071 Genomic DNA. Translation: EAW58816.1.
BC136493 mRNA. Translation: AAI36494.1.
CCDSiCCDS6444.1. [Q9Y5R5-1]
CCDS6445.1. [Q9Y5R5-2]
RefSeqiNP_001124337.1. NM_001130865.2. [Q9Y5R5-2]
NP_006548.1. NM_006557.6. [Q9Y5R5-2]
NP_870987.2. NM_181872.4. [Q9Y5R5-1]
XP_011515989.1. XM_011517687.1. [Q9Y5R5-1]
XP_011515992.1. XM_011517690.2. [Q9Y5R5-1]
XP_011515996.1. XM_011517694.2. [Q9Y5R5-3]
XP_016869702.1. XM_017014213.1. [Q9Y5R5-1]
XP_016869703.1. XM_017014214.1. [Q9Y5R5-1]
XP_016869704.1. XM_017014215.1. [Q9Y5R5-1]
XP_016869705.1. XM_017014216.1. [Q9Y5R5-2]
UniGeneiHs.59506.

3D structure databases

ProteinModelPortaliQ9Y5R5.
SMRiQ9Y5R5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115898. 1 interactor.
STRINGi9606.ENSP00000305785.

PTM databases

iPTMnetiQ9Y5R5.
PhosphoSitePlusiQ9Y5R5.

Polymorphism and mutation databases

BioMutaiDMRT2.
DMDMi334302783.

Proteomic databases

PaxDbiQ9Y5R5.
PeptideAtlasiQ9Y5R5.
PRIDEiQ9Y5R5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000259622; ENSP00000259622; ENSG00000173253. [Q9Y5R5-2]
ENST00000358146; ENSP00000350865; ENSG00000173253. [Q9Y5R5-1]
ENST00000382251; ENSP00000371686; ENSG00000173253. [Q9Y5R5-1]
ENST00000382255; ENSP00000371690; ENSG00000173253. [Q9Y5R5-2]
ENST00000412350; ENSP00000397494; ENSG00000173253. [Q9Y5R5-2]
ENST00000635183; ENSP00000489226; ENSG00000173253. [Q9Y5R5-2]
GeneIDi10655.
KEGGihsa:10655.
UCSCiuc003zhb.5. human. [Q9Y5R5-1]

Organism-specific databases

CTDi10655.
DisGeNETi10655.
GeneCardsiDMRT2.
HGNCiHGNC:2935. DMRT2.
HPAiHPA029297.
MalaCardsiDMRT2.
MIMi604935. gene.
neXtProtiNX_Q9Y5R5.
OpenTargetsiENSG00000173253.
Orphaneti242. 46,XY complete gonadal dysgenesis.
PharmGKBiPA27382.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3815. Eukaryota.
ENOG410XSK9. LUCA.
GeneTreeiENSGT00550000074486.
HOGENOMiHOG000049088.
HOVERGENiHBG055968.
InParanoidiQ9Y5R5.
KOiK19489.
OMAiETYVGGT.
OrthoDBiEOG091G0R96.
PhylomeDBiQ9Y5R5.
TreeFamiTF317837.

Miscellaneous databases

GenomeRNAii10655.
PROiQ9Y5R5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173253.
CleanExiHS_DMRT2.
ExpressionAtlasiQ9Y5R5. baseline and differential.
GenevisibleiQ9Y5R5. HS.

Family and domain databases

Gene3Di4.10.1040.10. 1 hit.
InterProiIPR001275. DM_DNA-bd.
IPR026607. DMRT/dsx/mab-3.
[Graphical view]
PANTHERiPTHR12322. PTHR12322. 1 hit.
PfamiPF00751. DM. 1 hit.
[Graphical view]
SMARTiSM00301. DM. 1 hit.
[Graphical view]
SUPFAMiSSF82927. SSF82927. 1 hit.
PROSITEiPS40000. DM_1. 1 hit.
PS50809. DM_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDMRT2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5R5
Secondary accession number(s): B1ANC0
, B9EGJ1, Q9NPG6, Q9NQR6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 31, 2011
Last modified: November 2, 2016
This is version 129 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.