Seroatlas · Human Serome Atlas

DMXL2

DmX-like protein 2

Also known as: DFNA71, DMXL2_HUMAN, KIAA0856, RC3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8TDJ6
Gene
DMXL2
Ensembl
ENSG00000104093
Chromosome
15
Canonical length
3036 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

3036 residues, UniProt reviewed canonical sequence.

>Q8TDJ6|DMXL2
     1  MHLHQVLTGA VNPGDNCYSV GSVGDVPFTA YGSGCDIVIL ANDFECVQII PGAKHGNIQV
    61  SCVECSNQQG RIAASYGNAV CIFEPLGINS HKRNCQLKCQ WLKTGQFFLS SVTYNLAWDP
   121  QDNRLLTATD SIQLWAPPGD DILEEEEEID NTVPPVLNDW KCVWQCKTSV SVHLMEWSPD
   181  GEYFATAGKD DCLLKVWYPM TGWKSSIIPQ DHHEVKRRQS STQFSFVYLA HPRAVTGFSW
   241  RKTSKYMPRG SVCNVLLTSC HDGVCRLWAE TLLPEDCLLG EQICETTTSS IASSLSHAGR
   301  HKDRIQHALE TIHHLKNLRK GQRRSSVLVT HAELMPDQTA MHEVQRHISH HANALCHFHI
   361  AASINPATDI PNVLVGTAFN VDDGNGGFVV HWLNNKEFHF TSSTEVFMHQ LRKLSDKQVD
   421  HENDDADRED EEHSQEDRER GLHMKLDHDL SLDRESEAGT GSSEHEDGER EGSPRTYSRL
   481  SVPMPLPTVL LDRKIETLLT EWNKNPDMLF TIHPVDGTFL VWHVKYLDEY NPGIFRQVQV
   541  SFSSRIPVAF PSGDASSLSK NIMMYACINA TKDSHHTLLH QEGMSVGSPH GSQPHSRSHS
   601  THMNILAPTV MMISKHIDGS LNQWAVTFAD KSAFTTVLTV SHKFRYCGHR FHLNDLACHS
   661  VLPLLLTSSH HNALLTPELD CQWDSDNKLS RLMDPVKHIK GSSKQPLRNA ATRTFHDPNA
   721  IYSELILWRV DPIGPLSYTG GVSELARINS LHTSAFSNVA WLPTLIPSYC LGTYCNSASA
   781  CFVASDGKNL RLYQAVVDAR KLLDELSDPE SSKLIGEVFN IVSQQSTARP GCIIELDAIT
   841  NQCGSNTQLL HVFQEDFIIG YKPHKEDMEK KETEIFFQPS QGYRPPPFSE KFFLVVIEKD
   901  SNNNSILHMW HLHLKSVQAC LAKASEGASS ESLLSVPGQK NVDSSPETSP SVSPMPHSSS
   961  IANLQTASKL ILSSRLVYSQ PLDLPESVEV IRATPSAGHL SSSSIYPVCL APYLVVTTCS
  1021  DNKVRFWKCC MEANPECNKS DEKEIYHWKR WPLMNDEGED NSSTVSIVGR PVAVSCSYTG
  1081  RLAVAYKQPI HHNGFVSKEF SMHVCIFECE STGGSEWVLE QTIHLDDLVK VGSVLDSRVS
  1141  VDSNLFVYSK SDALLSKDRY LIPNIKHLVH LDWVSKEDGS HILTVGVGAN IFMYGRLSGI
  1201  VTEQTNSKDG VAVITLPLGG SIKQGVKSRW VLLRSIDLVS SVDGTPSLPV SLSWVRDGIL
  1261  VVGMDCEMHV YAQWKHAVKF GDTEADSSNA EEAAMQDHST FKSNMLARKS VVEGTAISDD
  1321  VFCSPTVIQD GGLFEAAHVL SPTLPQYHPT QLLELMDLGK VRRAKAILSH LVKCIAGEVA
  1381  IVRDPDAGEG TKRHLSRTIS VSGSTAKETV TVGKDGTRDY TEIDSIPPLP LYALLAADQD
  1441  TSYRISEEST KIPQSYEDQT VSQPEDQYSE LFQIQDIPTD DIDLEPEKRE NKSKVINLSQ
  1501  YGPAYFGQEH ARVLSSHLMH SSLPGLTRLE QMFLVALADT VATTSTELDE SRDKSCSGRD
  1561  TLDECGLRYL LAMRLHTCLL TSLPPLYRVQ LLHQGVSTCH FAWAFHSEAE EELINMIPAI
  1621  QRGDPQWSEL RAMGIGWWVR NINTLRRCIE KVAKASFQRN NDALDAALFY LSMKKKAVVW
  1681  GLFRSQHDEK MTTFFSHNFN EDRWRKAALK NAFSLLGKQR FEQSAAFFLL AGSLKDAIEV
  1741  CLEKMEDIQL AMVIARLYES EFETSSTYIS ILNQKILGCQ KDGSGFSCKR LHPDPFLRSL
  1801  AYWVMKDYTR ALDTLLEQTP KEDDEHQVII KSCNPVAFSF YNYLRTHPLL IRRNLASPEG
  1861  TLATLGLKTE KNFVDKINLI ERKLFFTTAN AHFKVGCPVL ALEVLSKIPK VTKTSALSAK
  1921  KDQPDFISHR MDDVPSHSKA LSDGNGSSGI EWSNVTSSQY DWSQPIVKVD EEPLNLDWGE
  1981  DHDSALDEEE DDAVGLVMKS TDAREKDKQS DQKASDPNML LTPQEEDDPE GDTEVDVIAE
  2041  QLKFRACLKI LMTELRTLAT GYEVDGGKLR FQLYNWLEKE IAALHEICNH ESVIKEYSSK
  2101  TYSKVESDLL DQEEMVDKPD IGSYERHQIE RRRLQAKREH AERRKSWLQK NQDLLRVFLS
  2161  YCSLHGAQGG GLASVRMELK FLLQESQQET TVKQLQSPLP LPTTLPLLSA SIASTKTVIA
  2221  NPVLYLNNHI HDILYTIVQM KTPPHPSIED VKVHTLHSLA ASLSASIYQA LCDSHSYSQT
  2281  EGNQFTGMAY QGLLLSDRRR LRTESIEEHA TPNSSPAQWP GVSSLINLLS SAQDEDQPKL
  2341  NILLCEAVVA VYLSLLIHAL ATNSSSELFR LAAHPLNNRM WAAVFGGGVK LVVKPRRQSE
  2401  NISAPPVLSE DIDKHRRRFN MRMLVPGRPV KDATPPPVPA ERPSYKEKFI PPELSMWDYF
  2461  VAKPFLPLSD SGVIYDSDES IHSDEEDDAF FSDTQIQEHQ DPNSYSWALL HLTMVKLALH
  2521  NVKNFFPIAG LEFSELPVTS PLGIAVIKNL ENWEQILQEK MDQFEGPPPN YINTYPTDLS
  2581  VGAGPAILRN KAMLEPENTP FKSRDSSAFP VKRLWHFLVK QEVLQETFIR YIFTKKRKQS
  2641  EVEADLGYPG GKAKVIHKES DMIMAFSVNK ANCNEIVLAS THDVQELDVT SLLACQSYIW
  2701  IGEEYDRESK SSDDVDYRGS TTTLYQPSAT SYSASQVHPP SSLPWLGTGQ TSTGASVLMK
  2761  RNLHNVKRMT SHPVHQYYLT GAQDGSVRMF EWTRPQQLVC FRQAGNARVT RLYFNSQGNK
  2821  CGVADGEGFL SIWQVNQTAS NPKPYMSWQC HSKATSDFAF ITSSSLVATS GHSNDNRNVC
  2881  LWDTLISPGN SLIHGFTCHD HGATVLQYAP KQQLLISGGR KGHVCIFDIR QRQLIHTFQA
  2941  HDSAIKALAL DPYEEYFTTG SAEGNIKVWR LTGHGLIHSF KSEHAKQSIF RNIGAGVMQI
  3001  DIIQGNRLFS CGADGTLKTR VLPNAFNIPN RILDIL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DMXL2 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
Highest tissue expression
16 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 16 nTPM
  • retina: 15 nTPM
  • epididymis: 13 nTPM
  • cerebral cortex: 11 nTPM
  • appendix: 11 nTPM
  • duodenum: 8.7 nTPM

Single-cell type

  • monocytes: 733 nCPM
  • neutrophils: 692 nCPM
  • kupffer cells: 444 nCPM
  • neutrophil progenitors: 364 nCPM
  • monocyte progenitors: 331 nCPM
  • macrophages: 286 nCPM

Immune cell

  • classical monocyte: 2.8 nTPM
  • non-classical monocyte: 2.7 nTPM
  • intermediate monocyte: 2.2 nTPM
  • neutrophil: 2.2 nTPM
  • myeloid DC: 0.6 nTPM
  • total PBMC: 0.4 nTPM

Brain region

  • choroid plexus: 54 nTPM
  • hippocampal formation: 53 nTPM
  • cerebral cortex: 51 nTPM
  • thalamus: 44 nTPM
  • basal ganglia: 44 nTPM
  • cerebellum: 42 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DMXL2.

Disease | AllUniProt

Conditions DMXL2 is implicated in, by any mechanism.

  • Polyendocrine-polyneuropathy syndrome (PEPNS) MIM:616113
  • Deafness, autosomal dominant, 71 (DFNA71) MIM:617605
  • Developmental and epileptic encephalopathy 81 (DEE81) MIM:618663

Disease | GeneticClinVar

63 pathogenic / likely-pathogenic of 1,956 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Developmental and epileptic encephalopathy, 81
  • Hearing loss, autosomal dominant 71
  • DMXL2-related disorder
  • Polyendocrine-polyneuropathy syndrome

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)
0.16
gnomAD pLI
1
gnomAD missense Z
2.37
DepMap mean gene effect
-0.05
DepMap dependency class
selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DMXL2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DMXL2 as an antibody target. Whether an autoantibody or antibody against DMXL2 could matter depends on whether native DMXL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DMXL2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DMXL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DMXL2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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