DMRT2

Protein identityUniProt · HPA

UniProt accession

Q9Y5R5

Gene

DMRT2

Ensembl

ENSG00000173253

Chromosome

9

Canonical length

561 aa

Protein class

Predicted intracellular proteins, Predicted membrane proteins, Transcription factors

Subcellular location

Nucleoplasm,Nucleoli,Vesicles,Centriolar satellite

Quaternary structure

Homodimer

OverviewNCBI Gene

The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]

Canonical amino-acid sequenceUniProt

561 residues, UniProt reviewed canonical sequence.

>Q9Y5R5|DMRT2
     1  MADPQAGSAA GDWEIDVESL ELEEDVCGAP RSTPPGPSPP PADGDCEDDE DDDGVDEDAE
    61  EEGDGEEAGA SPGMPGQPEQ RGGPQPRPPL APQASPAGTG PRERCTPAGG GAEPRKLSRT
   121  PKCARCRNHG VVSCLKGHKR FCRWRDCQCA NCLLVVERQR VMAAQVALRR QQATEDKKGL
   181  SGKQNNFERK AVYQRQVRAP SLLAKSILEG YRPIPAETYV GGTFPLPPPV SDRMRKRRAF
   241  ADKELENIML EREYKEREML ETSQAAALFL PNRMVPGPDY NSYKSAYSPS PVEPPSKDFC
   301  NFLPTCLDLT MQYSGSGNME LISSNVSVAT TYRQYPLSSR FLVWPKCGPI SDTLLYQQCL
   361  LNATTSVQAL KPGASWDLKG ARVQDGLSAE QDMMPSKLEG SLVLPHTPEI QTTRSDLQGH
   421  QAVPERSAFS PPRRNFSPIV DTDSLAAQGH VLTKISKENT RHPLPLRHNP FHSLFQQTLT
   481  DKSGPELKTP FVKEAFEETP KKHRECLVKD NQKYTFTIDR CAKDLFVAKQ VGTKLSVNEP
   541  LSFSVESILK RPSSAITRVS Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DMRT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.67

Highest tissue expression

39 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DMRT2.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 252 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• See cases
• Spondylocostal dysostosis 7, autosomal recessive

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.76

gnomAD pLI

0.01

gnomAD missense Z

-2.06

DepMap mean gene effect

0.2

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• embryonic skeletal system development
• myotome development
• regulation of somitogenesis
• regulation of transcription by RNA polymerase II
• sex differentiation
• positive regulation of myotome development

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• identical protein binding
• metal ion binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• DM DNA-binding domain
• DMRT family
• DM DNA-binding domain superfamily
• DM DNA binding domain

KeywordsUniProt

• DNA-binding
• Metal-binding
• Nucleus
• Transcription
• Transcription regulation
• Zinc