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Protein

Doublesex- and mab-3-related transcription factor C2

Gene

DMRTC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

May be involved in sexual development.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi42 – 89DMPROSITE-ProRule annotationAdd BLAST48

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Differentiation, Sexual differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Doublesex- and mab-3-related transcription factor C2
Gene namesi
Name:DMRTC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:13911. DMRTC2.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000142025.
PharmGKBiPA27388.

Polymorphism and mutation databases

BioMutaiDMRTC2.
DMDMi116241336.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002441061 – 367Doublesex- and mab-3-related transcription factor C2Add BLAST367

Proteomic databases

PaxDbiQ8IXT2.
PeptideAtlasiQ8IXT2.
PRIDEiQ8IXT2.

PTM databases

iPTMnetiQ8IXT2.
PhosphoSitePlusiQ8IXT2.

Expressioni

Tissue specificityi

Expressed in testis and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000142025.
CleanExiHS_DMRTC2.
ExpressionAtlasiQ8IXT2. baseline and differential.
GenevisibleiQ8IXT2. HS.

Organism-specific databases

HPAiHPA045016.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122010. 2 interactors.
IntActiQ8IXT2. 1 interactor.
STRINGi9606.ENSP00000269945.

Structurei

3D structure databases

ProteinModelPortaliQ8IXT2.
SMRiQ8IXT2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi120 – 351Pro-richAdd BLAST232

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG3815. Eukaryota.
ENOG410XSK9. LUCA.
GeneTreeiENSGT00530000063957.
HOGENOMiHOG000231505.
HOVERGENiHBG081447.
InParanoidiQ8IXT2.
KOiK19493.
PhylomeDBiQ8IXT2.
TreeFamiTF340713.

Family and domain databases

Gene3Di4.10.1040.10. 1 hit.
InterProiIPR001275. DM_DNA-bd.
IPR031577. DMRT-C1/C2_C.
IPR026607. DMRT/dsx/mab-3.
[Graphical view]
PANTHERiPTHR12322. PTHR12322. 1 hit.
PfamiPF00751. DM. 1 hit.
PF15791. DMRT-like. 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 (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IXT2-1) [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
MEPSDMPAGY HCPLDSAPWD ETRDPQSTEL IPRRAISRSP TCARCRNHGV
60 70 80 90 100
TAHLKGHKRL CLFQACECHK CVLILERRRV MAAQVALRRQ QEAQLKKHLM
110 120 130 140 150
RRGEASPKAP NHFRKGTTQP QVPSGKENIA PQPQTPHGAV LLAPTPPGKN
160 170 180 190 200
SCGPLLLSHP PEASPLSWTP VPPGPWVPGH WLPPGFSMPP PVVCRLLYQE
210 220 230 240 250
PAVSLPPFPG FDPGTSLQLP THGPFTTCPG SHPVLTAPLS GEPQGPPSQP
260 270 280 290 300
RTHSTLILQP CGTPDPLQLQ PQASGASCLA RTSGPSEWQL QQEAAEALVG
310 320 330 340 350
LKDSSQAPRV TPSVPPNPAW ISLLHPCGPP APAGGRGFQP VGPCLRPSPA
360
PSVALHIGRL GSISLLS
Length:367
Mass (Da):39,124
Last modified:October 17, 2006 - v2
Checksum:i4AB62E4024CAAB28
GO
Isoform 2 (identifier: Q8IXT2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     150-224: NSCGPLLLSH...TSLQLPTHGP → PCTQLQPVPS...CCLSASLPWL
     225-367: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:224
Mass (Da):24,239
Checksum:i65D817A28B45E882
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti73L → H in BAB71473 (PubMed:14702039).Curated1
Sequence conflicti184P → Q in AAH39266 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_019525150 – 224NSCGP…PTHGP → PCTQLQPVPSAPAELLWASA AQPSPGSLALVLDSGASWPL GPWTLAASRLLHATTSGVPP AVPRTCCLSASLPWL in isoform 2. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_019526225 – 367Missing in isoform 2. 1 PublicationAdd BLAST143

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057404 mRNA. Translation: BAB71473.1.
BC029202 mRNA. Translation: AAH29202.1.
BC039266 mRNA. Translation: AAH39266.1.
AJ291669 mRNA. Translation: CAC40652.1.
CCDSiCCDS33034.1. [Q8IXT2-1]
RefSeqiNP_001035373.1. NM_001040283.2. [Q8IXT2-1]
UniGeneiHs.350507.

Genome annotation databases

EnsembliENST00000269945; ENSP00000269945; ENSG00000142025. [Q8IXT2-1]
ENST00000601660; ENSP00000472159; ENSG00000142025. [Q8IXT2-2]
GeneIDi63946.
KEGGihsa:63946.
UCSCiuc002orr.2. human. [Q8IXT2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057404 mRNA. Translation: BAB71473.1.
BC029202 mRNA. Translation: AAH29202.1.
BC039266 mRNA. Translation: AAH39266.1.
AJ291669 mRNA. Translation: CAC40652.1.
CCDSiCCDS33034.1. [Q8IXT2-1]
RefSeqiNP_001035373.1. NM_001040283.2. [Q8IXT2-1]
UniGeneiHs.350507.

3D structure databases

ProteinModelPortaliQ8IXT2.
SMRiQ8IXT2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122010. 2 interactors.
IntActiQ8IXT2. 1 interactor.
STRINGi9606.ENSP00000269945.

PTM databases

iPTMnetiQ8IXT2.
PhosphoSitePlusiQ8IXT2.

Polymorphism and mutation databases

BioMutaiDMRTC2.
DMDMi116241336.

Proteomic databases

PaxDbiQ8IXT2.
PeptideAtlasiQ8IXT2.
PRIDEiQ8IXT2.

Protocols and materials databases

DNASUi63946.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269945; ENSP00000269945; ENSG00000142025. [Q8IXT2-1]
ENST00000601660; ENSP00000472159; ENSG00000142025. [Q8IXT2-2]
GeneIDi63946.
KEGGihsa:63946.
UCSCiuc002orr.2. human. [Q8IXT2-1]

Organism-specific databases

CTDi63946.
GeneCardsiDMRTC2.
HGNCiHGNC:13911. DMRTC2.
HPAiHPA045016.
MIMi614806. gene.
neXtProtiNX_Q8IXT2.
OpenTargetsiENSG00000142025.
PharmGKBiPA27388.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3815. Eukaryota.
ENOG410XSK9. LUCA.
GeneTreeiENSGT00530000063957.
HOGENOMiHOG000231505.
HOVERGENiHBG081447.
InParanoidiQ8IXT2.
KOiK19493.
PhylomeDBiQ8IXT2.
TreeFamiTF340713.

Miscellaneous databases

GenomeRNAii63946.
PROiQ8IXT2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000142025.
CleanExiHS_DMRTC2.
ExpressionAtlasiQ8IXT2. baseline and differential.
GenevisibleiQ8IXT2. HS.

Family and domain databases

Gene3Di4.10.1040.10. 1 hit.
InterProiIPR001275. DM_DNA-bd.
IPR031577. DMRT-C1/C2_C.
IPR026607. DMRT/dsx/mab-3.
[Graphical view]
PANTHERiPTHR12322. PTHR12322. 1 hit.
PfamiPF00751. DM. 1 hit.
PF15791. DMRT-like. 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 nameiDMRTD_HUMAN
AccessioniPrimary (citable) accession number: Q8IXT2
Secondary accession number(s): Q8N6Q2, Q96M39, Q96SD4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: October 17, 2006
Last modified: November 30, 2016
This is version 114 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 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.