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Protein

Doublesex- and mab-3-related transcription factor C2

Gene

DMRTC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionDNA-binding
Biological processDifferentiation, Sexual differentiation, Transcription, Transcription regulation
LigandMetal-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

EuPathDBiHostDB:ENSG00000142025.15
HGNCiHGNC:13911 DMRTC2
MIMi614806 gene
neXtProtiNX_Q8IXT2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Phylogenomic databases

eggNOGiKOG3815 Eukaryota
ENOG410XSK9 LUCA
GeneTreeiENSGT00550000074486
HOGENOMiHOG000231505
HOVERGENiHBG081447
InParanoidiQ8IXT2
KOiK19493
PhylomeDBiQ8IXT2
TreeFamiTF340713

Family and domain databases

Gene3Di4.10.1040.10, 1 hit
InterProiView protein in InterPro
IPR001275 DM_DNA-bd
IPR036407 DM_DNA-bd_sf
IPR031577 DMRT-C1/C2_C
IPR026607 DMRT/dsx/mab-3
PANTHERiPTHR12322 PTHR12322, 1 hit
PfamiView protein in Pfam
PF00751 DM, 1 hit
PF15791 DMRT-like, 1 hit
SMARTiView protein in SMART
SM00301 DM, 1 hit
SUPFAMiSSF82927 SSF82927, 1 hit
PROSITEiView protein in PROSITE
PS40000 DM_1, 1 hit
PS50809 DM_2, 1 hit

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

Similar proteinsi

Entry informationi

Entry nameiDMRTD_HUMAN
AccessioniPrimary (citable) accession number: Q8IXT2
Secondary accession number(s): Q8N6Q2, Q96M39, Q96SD4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: October 17, 2006
Last modified: May 23, 2018
This is version 123 of the entry and version 2 of the sequence. See 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

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