DMRT2
entrez
10655
canonical
uniprot
Q9Y5R5
canonical
ensembl
ENSG00000173253
resolver
ensp
ENSP00000350865
resolver
ensp
ENSP00000371686
resolver
ensp
ENSP00000371690
resolver
ensp
ENSP00000397494
resolver
ensp
ENSP00000580868
resolver
ensp
ENSP00000580869
resolver
ensp
ENSP00000672508
resolver
ensp
ENSP00000672509
resolver
genesymbol
DMRT2
resolver
genesymbol_syn
DSXL2
resolver
hgnc
HGNC:2935
resolver
uniprot
B1ANC0
resolver
uniprot
B9EGJ1
resolver
uniprot
Q05C20
resolver
uniprot
Q9NPG6
resolver
uniprot
Q9NQR6
resolver
uniprot_entry
DMRT2_HUMAN
resolver
uniprot_entry
Q05C20_HUMAN
resolver
uniprot_sec
B1ANC0
resolver
uniprot_sec
B9EGJ1
resolver
uniprot_sec
Q9NPG6
resolver
uniprot_sec
Q9NQR6
resolver
amino_acid_sequence
MADPQAGSAAGDWEIDVESLELEEDVCGAPRSTPPGPSPPPADGDCEDDEDDDGVDEDAEEEGDGEEAGASPGMPGQPEQRGGPQPRPPLAPQASPAGTGPRERCTPAGGGAEPRKLSRTPKCARCRNHGVVSCLKGHKRFCRWRDCQCANCLLVVERQRVMAAQVALRRQQATEDKKGLSGKQNNFERKAVYQRQVRAPSLLAKSILEGYRPIPAETYVGGTFPLPPPVSDRMRKRRAFADKELENIMLEREYKEREMLETSQAAALFLPNRMVPGPDYNSYKSAYSPSPVEPPSKDFCNFLPTCLDLTMQYSGSGNMELISSNVSVATTYRQYPLSSRFLVWPKCGPISDTLLYQQCLLNATTSVQALKPGASWDLKGARVQDGLSAEQDMMPSKLEGSLVLPHTPEIQTTRSDLQGHQAVPERSAFSPPRRNFSPIVDTDSLAAQGHVLTKISKENTRHPLPLRHNPFHSLFQQTLTDKSGPELKTPFVKEAFEETPKKHRECLVKDNQKYTFTIDRCAKDLFVAKQVGTKLSVNEPLSFSVESILKRPSSAITRVSQ
uniprot
proteins
disease_involvement
DISEASE: Spondylocostal dysostosis 7, autosomal recessive (SCDO7) [MIM:621523]: A form of spondylocostal dysostosis, a condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. SCDO7 patients exhibit facial dysmorphisms, including cleft palate, and hypoplastic or absent thymus with immunodeficiency. {ECO:0000269|PubMed:29681102, ECO:0000269|PubMed:41014130}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator that directly regulates early activation of the myogenic determination gene MYF5 by binding in a sequence-specific manner to the early epaxial enhancer element of it. Involved in somitogenesis during embryogenesis and somite development and differentiation into sclerotome and dermomyotome. Required for the initiation and/or maintenance of proper organization of the sclerotome, dermomyotome and myotome (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
61814
uniprot
proteins
protein_family
DMRT family
uniprot
proteins
pubmed
10332030
uniprot
proteins
pubmed
10729224
uniprot
proteins
pubmed
10857744
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
29681102
uniprot
proteins
pubmed
41014130
uniprot
proteins
sequence_length
561
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
uniprot
proteins