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Q8IXT2

- DMRTD_HUMAN

UniProt

Q8IXT2 - DMRTD_HUMAN

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Protein
Doublesex- and mab-3-related transcription factor C2
Gene
DMRTC2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

May be involved in sexual development.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi42 – 8948DM
Add
BLAST

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. sequence-specific DNA binding Source: Ensembl
  3. sequence-specific DNA binding transcription factor activity Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. male meiosis I Source: Ensembl
  2. positive regulation of histone H3-K9 dimethylation Source: Ensembl
  3. positive regulation of histone H3-K9 trimethylation Source: Ensembl
  4. sex differentiation Source: UniProtKB-KW
  5. spermatid nucleus elongation Source: Ensembl
  6. transcription, DNA-templated Source: UniProtKB-KW
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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:13911. DMRTC2.

Subcellular locationi

Nucleus Reviewed prediction

GO - Cellular componenti

  1. XY body Source: Ensembl
  2. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27388.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 367367Doublesex- and mab-3-related transcription factor C2
PRO_0000244106Add
BLAST

Proteomic databases

PaxDbiQ8IXT2.
PRIDEiQ8IXT2.

PTM databases

PhosphoSiteiQ8IXT2.

Expressioni

Tissue specificityi

Expressed in testis and pancreas.1 Publication

Gene expression databases

ArrayExpressiQ8IXT2.
BgeeiQ8IXT2.
CleanExiHS_DMRTC2.
GenevestigatoriQ8IXT2.

Organism-specific databases

HPAiHPA045016.

Interactioni

Protein-protein interaction databases

BioGridi122010. 2 interactions.
IntActiQ8IXT2. 1 interaction.
STRINGi9606.ENSP00000269945.

Structurei

3D structure databases

ProteinModelPortaliQ8IXT2.
SMRiQ8IXT2. Positions 40-84.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi120 – 351232Pro-rich
Add
BLAST

Sequence similaritiesi

Belongs to the DMRT family.

Phylogenomic databases

eggNOGiNOG310865.
HOGENOMiHOG000231505.
HOVERGENiHBG081447.
InParanoidiQ8IXT2.
OrthoDBiEOG7QRQV1.
PhylomeDBiQ8IXT2.
TreeFamiTF340713.

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 (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MEPSDMPAGY HCPLDSAPWD ETRDPQSTEL IPRRAISRSP TCARCRNHGV    50
TAHLKGHKRL CLFQACECHK CVLILERRRV MAAQVALRRQ QEAQLKKHLM 100
RRGEASPKAP NHFRKGTTQP QVPSGKENIA PQPQTPHGAV LLAPTPPGKN 150
SCGPLLLSHP PEASPLSWTP VPPGPWVPGH WLPPGFSMPP PVVCRLLYQE 200
PAVSLPPFPG FDPGTSLQLP THGPFTTCPG SHPVLTAPLS GEPQGPPSQP 250
RTHSTLILQP CGTPDPLQLQ PQASGASCLA RTSGPSEWQL QQEAAEALVG 300
LKDSSQAPRV TPSVPPNPAW ISLLHPCGPP APAGGRGFQP VGPCLRPSPA 350
PSVALHIGRL GSISLLS 367
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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei150 – 22475NSCGP…PTHGP → PCTQLQPVPSAPAELLWASA AQPSPGSLALVLDSGASWPL GPWTLAASRLLHATTSGVPP AVPRTCCLSASLPWL in isoform 2.
VSP_019525Add
BLAST
Alternative sequencei225 – 367143Missing in isoform 2.
VSP_019526Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti73 – 731L → H in BAB71473. 1 Publication
Sequence conflicti184 – 1841P → Q in AAH39266. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
XP_005259205.1. XM_005259148.2. [Q8IXT2-1]
UniGeneiHs.350507.

Genome annotation databases

EnsembliENST00000269945; ENSP00000269945; ENSG00000142025. [Q8IXT2-1]
ENST00000601660; ENSP00000472159; ENSG00000142025. [Q8IXT2-2]
ENST00000609569; ENSP00000476385; ENSG00000273436. [Q8IXT2-2]
ENST00000610108; ENSP00000476360; ENSG00000273436. [Q8IXT2-1]
GeneIDi63946.
KEGGihsa:63946.
UCSCiuc002ors.3. human. [Q8IXT2-1]

Polymorphism databases

DMDMi116241336.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK057404 mRNA. Translation: BAB71473.1 .
BC029202 mRNA. Translation: AAH29202.1 .
BC039266 mRNA. Translation: AAH39266.1 .
AJ291669 mRNA. Translation: CAC40652.1 .
CCDSi CCDS33034.1. [Q8IXT2-1 ]
RefSeqi NP_001035373.1. NM_001040283.2. [Q8IXT2-1 ]
XP_005259205.1. XM_005259148.2. [Q8IXT2-1 ]
UniGenei Hs.350507.

3D structure databases

ProteinModelPortali Q8IXT2.
SMRi Q8IXT2. Positions 40-84.
ModBasei Search...

Protein-protein interaction databases

BioGridi 122010. 2 interactions.
IntActi Q8IXT2. 1 interaction.
STRINGi 9606.ENSP00000269945.

PTM databases

PhosphoSitei Q8IXT2.

Polymorphism databases

DMDMi 116241336.

Proteomic databases

PaxDbi Q8IXT2.
PRIDEi Q8IXT2.

Protocols and materials databases

DNASUi 63946.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000269945 ; ENSP00000269945 ; ENSG00000142025 . [Q8IXT2-1 ]
ENST00000601660 ; ENSP00000472159 ; ENSG00000142025 . [Q8IXT2-2 ]
ENST00000609569 ; ENSP00000476385 ; ENSG00000273436 . [Q8IXT2-2 ]
ENST00000610108 ; ENSP00000476360 ; ENSG00000273436 . [Q8IXT2-1 ]
GeneIDi 63946.
KEGGi hsa:63946.
UCSCi uc002ors.3. human. [Q8IXT2-1 ]

Organism-specific databases

CTDi 63946.
GeneCardsi GC19P042349.
HGNCi HGNC:13911. DMRTC2.
HPAi HPA045016.
MIMi 614806. gene.
neXtProti NX_Q8IXT2.
PharmGKBi PA27388.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG310865.
HOGENOMi HOG000231505.
HOVERGENi HBG081447.
InParanoidi Q8IXT2.
OrthoDBi EOG7QRQV1.
PhylomeDBi Q8IXT2.
TreeFami TF340713.

Miscellaneous databases

GenomeRNAii 63946.
NextBioi 65724.
PROi Q8IXT2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8IXT2.
Bgeei Q8IXT2.
CleanExi HS_DMRTC2.
Genevestigatori Q8IXT2.

Family and domain databases

Gene3Di 4.10.1040.10. 1 hit.
InterProi IPR001275. DM_DNA-bd.
IPR026607. DMRT/dsx/mab-3.
[Graphical view ]
PANTHERi PTHR12322. PTHR12322. 1 hit.
Pfami PF00751. DM. 1 hit.
[Graphical view ]
SMARTi SM00301. DM. 1 hit.
[Graphical view ]
SUPFAMi SSF82927. SSF82927. 1 hit.
PROSITEi PS40000. DM_1. 1 hit.
PS50809. DM_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain and Testis.
  3. "Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination."
    Ottolenghi C., Fellous M., Barbieri M., McElreavey K.
    Genomics 79:333-343(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 35-367 (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
    Tissue: Testis.

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: July 9, 2014
This is version 96 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

External Data

Dasty 3

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