Q9Y5R5 (DMRT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Doublesex- and mab-3-related transcription factor 2

Alternative name(s):
Doublesex-like 2 protein
Short name=DSXL-2

Gene names

Name:	DMRT2
Synonyms:	DSXL2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	561 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Nucleus Potential.
Tissue specificity	Expressed in testis, kidney and skeletal muscle.
Sequence similarities	Belongs to the DMRT family. Contains 1 DM DNA-binding domain.

Ontologies

Keywords
Biological process	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	male gonad development Traceable author statement. Source: ProtInc sex determination Traceable author statement. Source: ProtInc 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 sequence-specific DNA binding transcription factor activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y5R5-1)

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: Q9Y5R5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     210-226: GYRPIPAETYVGGTFPL → VLLGLFYSYYVYIMNHL
     227-561: Missing.

Note: Produced by DMRT2 bicistronic transcripts (AF284223/AF284224) from non-overlapping reading frame, according to PubMed:10729224.

Isoform 3 (identifier: Q9Y5R5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-233: Missing.

Note: Produced by DMRT2 bicistronic transcripts (AF284223/AF284224) from non-overlapping reading frame, according to PubMed:10729224.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 561	561	Doublesex- and mab-3-related transcription factor 2		PRO_0000207048
Regions
	DNA binding	123 – 170	48	DM
Natural variations
	Alternative sequence	1 – 233	233	Missing in isoform 3.		VSP_041247
	Alternative sequence	210 – 226	17	GYRPI…GTFPL → VLLGLFYSYYVYIMNHL in isoform 2.		VSP_041248
	Alternative sequence	227 – 561	335	Missing in isoform 2.		VSP_041249
Experimental info
	Sequence conflict	329	1	A → G in AAF86292. Ref.2
	Sequence conflict	329	1	A → G in AAF86294. Ref.2
	Sequence conflict	372	1	P → H in AAF86292. Ref.2
	Sequence conflict	372	1	P → H in AAF86294. Ref.2
	Sequence conflict	381	1	A → P in AAI36494. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 31, 2011. Version 2. Checksum: 17D856C78EBB43CB	FASTA	561	61,814
	10 20 30 40 50 60 MADPQAGSAA GDWEIDVESL ELEEDVCGAP RSTPPGPSPP PADGDCEDDE DDDGVDEDAE 70 80 90 100 110 120 EEGDGEEAGA SPGMPGQPEQ RGGPQPRPPL APQASPAGTG PRERCTPAGG GAEPRKLSRT 130 140 150 160 170 180 PKCARCRNHG VVSCLKGHKR FCRWRDCQCA NCLLVVERQR VMAAQVALRR QQATEDKKGL 190 200 210 220 230 240 SGKQNNFERK AVYQRQVRAP SLLAKSILEG YRPIPAETYV GGTFPLPPPV SDRMRKRRAF 250 260 270 280 290 300 ADKELENIML EREYKEREML ETSQAAALFL PNRMVPGPDY NSYKSAYSPS PVEPPSKDFC 310 320 330 340 350 360 NFLPTCLDLT MQYSGSGNME LISSNVSVAT TYRQYPLSSR FLVWPKCGPI SDTLLYQQCL 370 380 390 400 410 420 LNATTSVQAL KPGASWDLKG ARVQDGLSAE QDMMPSKLEG SLVLPHTPEI QTTRSDLQGH 430 440 450 460 470 480 QAVPERSAFS PPRRNFSPIV DTDSLAAQGH VLTKISKENT RHPLPLRHNP FHSLFQQTLT 490 500 510 520 530 540 DKSGPELKTP FVKEAFEETP KKHRECLVKD NQKYTFTIDR CAKDLFVAKQ VGTKLSVNEP 550 560 LSFSVESILK RPSSAITRVS Q
	Isoform 2 [UniParc]. Checksum: D6DE6CB7EF5EDD43	FASTA	226	24,469
	10 20 30 40 50 60 MADPQAGSAA GDWEIDVESL ELEEDVCGAP RSTPPGPSPP PADGDCEDDE DDDGVDEDAE 70 80 90 100 110 120 EEGDGEEAGA SPGMPGQPEQ RGGPQPRPPL APQASPAGTG PRERCTPAGG GAEPRKLSRT 130 140 150 160 170 180 PKCARCRNHG VVSCLKGHKR FCRWRDCQCA NCLLVVERQR VMAAQVALRR QQATEDKKGL 190 200 210 220 SGKQNNFERK AVYQRQVRAP SLLAKSILEV LLGLFYSYYV YIMNHL
	Isoform 3 [UniParc]. Checksum: 7E02085D125017DE	FASTA	328	36,884
	10 20 30 40 50 60 MRKRRAFADK ELENIMLERE YKEREMLETS QAAALFLPNR MVPGPDYNSY KSAYSPSPVE 70 80 90 100 110 120 PPSKDFCNFL PTCLDLTMQY SGSGNMELIS SNVSVATTYR QYPLSSRFLV WPKCGPISDT 130 140 150 160 170 180 LLYQQCLLNA TTSVQALKPG ASWDLKGARV QDGLSAEQDM MPSKLEGSLV LPHTPEIQTT 190 200 210 220 230 240 RSDLQGHQAV PERSAFSPPR RNFSPIVDTD SLAAQGHVLT KISKENTRHP LPLRHNPFHS 250 260 270 280 290 300 LFQQTLTDKS GPELKTPFVK EAFEETPKKH RECLVKDNQK YTFTIDRCAK DLFVAKQVGT 310 320 KLSVNEPLSF SVESILKRPS SAITRVSQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators." Raymond C.S., Parker E.D., Kettlewell J.R., Brown L.G., Page D.C., Kusz K., Jaruzelska J., Reinberg Y., Flejter W.L., Bardwell V.J., Hirsch B., Zarkower D. Hum. Mol. Genet. 8:989-996(1999) [PubMed: 10332030] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Testis.
[2]	"The human doublesex-related gene, DMRT2, is homologous to a gene involved in somitogenesis and encodes a potential bicistronic transcript." Ottolenghi C., Veitia R., Barbieri M., Fellous M., McElreavey K. Genomics 64:179-186(2000) [PubMed: 10729224] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3). Tissue: Kidney.
[3]	"A new submicroscopic deletion that refines the 9p region for sex reversal." Calvari V., Bertini V., De Grandi A., Peverali G., Zuffardi O., Ferguson-Smith M., Knudtzon J., Camerino G., Borsani G., Guioli S. Genomics 65:203-212(2000) [PubMed: 10857744] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Kidney.
[4]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF130729 mRNA. Translation: AAD40475.1. AF284223 mRNA. Translation: AAF86291.1. AF284223 mRNA. Translation: AAF86292.1. AF284224 mRNA. Translation: AAF86293.1. AF284224 mRNA. Translation: AAF86294.1. Y19052 mRNA. Translation: CAB59891.1. AL358976 Genomic DNA. Translation: CAH70589.1. CH471071 Genomic DNA. Translation: EAW58816.1. BC136493 mRNA. Translation: AAI36494.1.
IPI	IPI00001732. IPI00334605. IPI01018035.
RefSeq	NP_001124337.1. NM_001130865.2. NP_006548.1. NM_006557.6. NP_870987.2. NM_181872.4.
UniGene	Hs.59506.
3D structure databases
ProteinModelPortal	Q9Y5R5.
SMR	Q9Y5R5. Positions 121-165.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9Y5R5.
Polymorphism databases
DMDM	12229820.
Proteomic databases
PRIDE	Q9Y5R5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000259622; ENSP00000259622; ENSG00000173253. ENST00000302441; ENSP00000305785; ENSG00000173253. ENST00000358146; ENSP00000350865; ENSG00000173253. ENST00000382251; ENSP00000371686; ENSG00000173253. ENST00000382255; ENSP00000371690; ENSG00000173253. ENST00000412350; ENSP00000397494; ENSG00000173253.
GeneID	10655.
KEGG	hsa:10655.
UCSC	uc003zhb.2. human.
Organism-specific databases
CTD	10655.
GeneCards	GC09P001050.
H-InvDB	HIX0025707.
HGNC	HGNC:2935. DMRT2.
HPA	HPA029297.
MIM	604935. gene.
neXtProt	NX_Q9Y5R5.
Orphanet	242. 46,XY complete gonadal dysgenesis.
PharmGKB	PA27382.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00550000074486.
HOVERGEN	HBG051366.
PhylomeDB	Q9Y5R5.
Gene expression databases
ArrayExpress	Q9Y5R5.
Bgee	Q9Y5R5.
CleanEx	HS_DMRT2.
Genevestigator	Q9Y5R5.
GermOnline	ENSG00000173253. Homo sapiens.
Family and domain databases
InterPro	IPR001275. DM_DNA-bd. [Graphical view]
Gene3D	G3DSA:4.10.1040.10. DM_DNA_bd. 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
NextBio	40507.
SOURCE	Search...

Entry information

Entry name

DMRT2_HUMAN

Accession

Primary (citable) accession number: Q9Y5R5
Secondary accession number(s): B1ANC0, B9EGJ1, Q9NPG6

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	May 31, 2011
Last modified:	January 25, 2012
This is version 88 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.