Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q8IXT2 (DMRTD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Doublesex- and mab-3-related transcription factor C2
Gene names
Name:DMRTC2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length367 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May be involved in sexual development. Ref.3

Subcellular location

Nucleus Potential.

Tissue specificity

Expressed in testis and pancreas. Ref.3

Sequence similarities

Belongs to the DMRT family.

Contains 1 DM DNA-binding domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IXT2-1)

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.
Isoform 2 (identifier: Q8IXT2-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 367367Doublesex- and mab-3-related transcription factor C2
PRO_0000244106

Regions

DNA binding42 – 8948DM
Compositional bias120 – 351232Pro-rich

Natural variations

Alternative sequence150 – 22475NSCGP…PTHGP → PCTQLQPVPSAPAELLWASA AQPSPGSLALVLDSGASWPL GPWTLAASRLLHATTSGVPP AVPRTCCLSASLPWL in isoform 2.
VSP_019525
Alternative sequence225 – 367143Missing in isoform 2.
VSP_019526

Experimental info

Sequence conflict731L → H in BAB71473. Ref.1
Sequence conflict1841P → Q in AAH39266. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: 4AB62E4024CAAB28

FASTA36739,124
        10         20         30         40         50         60 
MEPSDMPAGY HCPLDSAPWD ETRDPQSTEL IPRRAISRSP TCARCRNHGV TAHLKGHKRL 

        70         80         90        100        110        120 
CLFQACECHK CVLILERRRV MAAQVALRRQ QEAQLKKHLM RRGEASPKAP NHFRKGTTQP 

       130        140        150        160        170        180 
QVPSGKENIA PQPQTPHGAV LLAPTPPGKN SCGPLLLSHP PEASPLSWTP VPPGPWVPGH 

       190        200        210        220        230        240 
WLPPGFSMPP PVVCRLLYQE PAVSLPPFPG FDPGTSLQLP THGPFTTCPG SHPVLTAPLS 

       250        260        270        280        290        300 
GEPQGPPSQP RTHSTLILQP CGTPDPLQLQ PQASGASCLA RTSGPSEWQL QQEAAEALVG 

       310        320        330        340        350        360 
LKDSSQAPRV TPSVPPNPAW ISLLHPCGPP APAGGRGFQP VGPCLRPSPA PSVALHIGRL 


GSISLLS 

« Hide

Isoform 2 [UniParc].

Checksum: 65D817A28B45E882
Show »

FASTA22424,239

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK057404 mRNA. Translation: BAB71473.1.
BC029202 mRNA. Translation: AAH29202.1.
BC039266 mRNA. Translation: AAH39266.1.
AJ291669 mRNA. Translation: CAC40652.1.
CCDSCCDS33034.1. [Q8IXT2-1]
RefSeqNP_001035373.1. NM_001040283.2. [Q8IXT2-1]
XP_005259205.1. XM_005259148.2. [Q8IXT2-1]
UniGeneHs.350507.

3D structure databases

ProteinModelPortalQ8IXT2.
SMRQ8IXT2. Positions 40-84.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122010. 2 interactions.
IntActQ8IXT2. 1 interaction.
STRING9606.ENSP00000269945.

PTM databases

PhosphoSiteQ8IXT2.

Polymorphism databases

DMDM116241336.

Proteomic databases

PaxDbQ8IXT2.
PRIDEQ8IXT2.

Protocols and materials databases

DNASU63946.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000269945; ENSP00000269945; ENSG00000142025. [Q8IXT2-1]
ENST00000601660; ENSP00000472159; ENSG00000142025. [Q8IXT2-2]
ENST00000609569; ENSP00000476385; ENSG00000273436. [Q8IXT2-2]
ENST00000610108; ENSP00000476360; ENSG00000273436. [Q8IXT2-1]
GeneID63946.
KEGGhsa:63946.
UCSCuc002ors.3. human. [Q8IXT2-1]

Organism-specific databases

CTD63946.
GeneCardsGC19P042349.
HGNCHGNC:13911. DMRTC2.
HPAHPA045016.
MIM614806. gene.
neXtProtNX_Q8IXT2.
PharmGKBPA27388.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG310865.
HOGENOMHOG000231505.
HOVERGENHBG081447.
InParanoidQ8IXT2.
OrthoDBEOG7QRQV1.
PhylomeDBQ8IXT2.
TreeFamTF340713.

Gene expression databases

ArrayExpressQ8IXT2.
BgeeQ8IXT2.
CleanExHS_DMRTC2.
GenevestigatorQ8IXT2.

Family and domain databases

Gene3D4.10.1040.10. 1 hit.
InterProIPR001275. DM_DNA-bd.
IPR026607. DMRT/dsx/mab-3.
[Graphical view]
PANTHERPTHR12322. PTHR12322. 1 hit.
PfamPF00751. DM. 1 hit.
[Graphical view]
SMARTSM00301. DM. 1 hit.
[Graphical view]
SUPFAMSSF82927. SSF82927. 1 hit.
PROSITEPS40000. DM_1. 1 hit.
PS50809. DM_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi63946.
NextBio65724.
PROQ8IXT2.
SOURCESearch...

Entry information

Entry nameDMRTD_HUMAN
AccessionPrimary (citable) accession number: Q8IXT2
Secondary accession number(s): Q8N6Q2, Q96M39, Q96SD4
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM