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Q8IXT2

- DMRTD_HUMAN

UniProt

Q8IXT2 - DMRTD_HUMAN

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
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    May be involved in sexual development.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi42 – 8948DMPROSITE-ProRule annotationAdd
    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

    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

    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 PROSITE-ProRule annotation

    GO - Cellular componenti

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

    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 C2PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

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

    Sequence similaritiesi

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

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti73 – 731L → H in BAB71473. (PubMed:14702039)Curated
    Sequence conflicti184 – 1841P → Q in AAH39266. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei150 – 22475NSCGP…PTHGP → PCTQLQPVPSAPAELLWASA AQPSPGSLALVLDSGASWPL GPWTLAASRLLHATTSGVPP AVPRTCCLSASLPWL in isoform 2. 1 PublicationVSP_019525Add
    BLAST
    Alternative sequencei225 – 367143Missing in isoform 2. 1 PublicationVSP_019526Add
    BLAST

    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]
    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...
    MobiDBi 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 ]
    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

    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: October 1, 2014
    This is version 97 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