Q8IXT2 (DMRTD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Doublesex- and mab-3-related transcription factor C2

Gene names

Name:

DMRTC2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	367 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Differentiation Sexual differentiation Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Ligand	DNA-binding Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW sex differentiation Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 367	367	Doublesex- and mab-3-related transcription factor C2		PRO_0000244106
Regions
	DNA binding	42 – 89	48	DM
	Compositional bias	120 – 351	232	Pro-rich
Natural variations
	Alternative sequence	150 – 224	75	NSCGP…PTHGP → PCTQLQPVPSAPAELLWASA AQPSPGSLALVLDSGASWPL GPWTLAASRLLHATTSGVPP AVPRTCCLSASLPWL in isoform 2.		VSP_019525
	Alternative sequence	225 – 367	143	Missing in isoform 2.		VSP_019526
Experimental info
	Sequence conflict	73	1	L → H in BAB71473. Ref.1
	Sequence conflict	184	1	P → Q in AAH39266. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: 4AB62E4024CAAB28	FASTA	367	39,124
	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
	Isoform 2 [UniParc]. Checksum: 65D817A28B45E882	FASTA	224	24,239
	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 LLAPTPPGKP CTQLQPVPSA PAELLWASAA QPSPGSLALV 190 200 210 220 LDSGASWPLG PWTLAASRLL HATTSGVPPA VPRTCCLSAS LPWL

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00480036. IPI00646234.
RefSeq	NP_001035373.1. NM_001040283.1.
UniGene	Hs.350507.
3D structure databases
ProteinModelPortal	Q8IXT2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8IXT2. 1 interaction.
STRING	9606.ENSP00000269945.
PTM databases
PhosphoSite	Q8IXT2.
Polymorphism databases
DMDM	116241336.
Proteomic databases
PaxDb	Q8IXT2.
PRIDE	Q8IXT2.
Protocols and materials databases
DNASU	63946.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000269945; ENSP00000269945; ENSG00000142025. ENST00000601660; ENSP00000472159; ENSG00000142025.
GeneID	63946.
KEGG	hsa:63946.
UCSC	uc002ors.3. human.
Organism-specific databases
CTD	63946.
GeneCards	GC19P042349.
HGNC	HGNC:13911. DMRTC2.
HPA	HPA045016.
MIM	614806. gene.
neXtProt	NX_Q8IXT2.
PharmGKB	PA27388.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG310865.
HOGENOM	HOG000231505.
HOVERGEN	HBG081447.
InParanoid	Q8IXT2.
OMA	ISRSPTC.
OrthoDB	EOG4JQ3XT.
PhylomeDB	Q8IXT2.
Gene expression databases
Bgee	Q8IXT2.
CleanEx	HS_DMRTC2.
Genevestigator	Q8IXT2.
GermOnline	ENSG00000142025. Homo sapiens.
Family and domain databases
Gene3D	4.10.1040.10. 1 hit.
InterPro	IPR001275. DM_DNA-bd. IPR026607. DMRT/dsx/mab-3. [Graphical view]
PANTHER	PTHR12322. PTHR12322. 1 hit.
Pfam	PF00751. DM. 1 hit. [Graphical view]
SMART	SM00301. DM. 1 hit. [Graphical view]
SUPFAM	SSF82927. DM_DNA_bd. 1 hit.
PROSITE	PS40000. DM_1. 1 hit. PS50809. DM_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	63946.
NextBio	65724.
SOURCE	Search...

Entry information

Entry name

DMRTD_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 86 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.