Seroatlas · Human Serome Atlas

KMT2E

Inactive histone-lysine N-methyltransferase 2E

Also known as: HDCMC04P, KMT2E_HUMAN, MLL5, SETD5B

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

Protein identityUniProt · HPA

UniProt accession: Q8IZD2
Gene: KMT2E
Ensembl: ENSG00000005483
Chromosome: 7
Canonical length: 1858 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1858 residues, UniProt reviewed canonical sequence.

>Q8IZD2|KMT2E
     1  MSIVIPLGVD TAETSYLEMA AGSEPESVEA SPVVVEKSNS YPHQLYTSSS HHSHSYIGLP
    61  YADHNYGARP PPTPPASPPP SVLISKNEVG IFTTPNFDET SSATTISTSE DGSYGTDVTR
   121  CICGFTHDDG YMICCDKCSV WQHIDCMGID RQHIPDTYLC ERCQPRNLDK ERAVLLQRRK
   181  RENMSDGDTS ATESGDEVPV ELYTAFQHTP TSITLTASRV SKVNDKRRKK SGEKEQHISK
   241  CKKAFREGSR KSSRVKGSAP EIDPSSDGSN FGWETKIKAW MDRYEEANNN QYSEGVQREA
   301  QRIALRLGNG NDKKEMNKSD LNTNNLLFKP PVESHIQKNK KILKSAKDLP PDALIIEYRG
   361  KFMLREQFEA NGYFFKRPYP FVLFYSKFHG LEMCVDARTF GNEARFIRRS CTPNAEVRHE
   421  IQDGTIHLYI YSIHSIPKGT EITIAFDFDY GNCKYKVDCA CLKENPECPV LKRSSESMEN
   481  INSGYETRRK KGKKDKDISK EKDTQNQNIT LDCEGTTNKM KSPETKQRKL SPLRLSVSNN
   541  QEPDFIDDIE EKTPISNEVE MESEEQIAER KRKMTREERK MEAILQAFAR LEKREKRREQ
   601  ALERISTAKT EVKTECKDTQ IVSDAEVIQE QAKEENASKP TPAKVNRTKQ RKSFSRSRTH
   661  IGQQRRRHRT VSMCSDIQPS SPDIEVTSQQ NDIENTVLTI EPETETALAE IITETEVPAL
   721  NKCPTKYPKT KKHLVNEWLS EKNEKTGKPS DGLSERPLRI TTDPEVLATQ LNSLPGLTYS
   781  PHVYSTPKHY IRFTSPFLSE KRRRKEPTEN ISGSCKKRWL KQALEEENSA ILHRFNSPCQ
   841  ERSRSPAVNG ENKSPLLLND SCSLPDLTTP LKKRRFYQLL DSVYSETSTP TPSPYATPTH
   901  TDITPMDPSF ATPPRIKSDD ETCRNGYKPI YSPVTPVTPG TPGNTMHFEN ISSPESSPEI
   961  KRRTYSQEGY DRSSTMLTLG PFRNSNLTEL GLQEIKTIGY TSPRSRTEVN RQCPGEKEPV
  1021  SDLQLGLDAV EPTALHKTLE TPAHDRAEPN SQLDSTHSGR GTMYSSWVKS PDRTGVNFSV
  1081  NSNLRDLTPS HQLEVGGGFR ISESKCLMQD DTRGMFMETT VFCTSEDGLV SGFGRTVNDN
  1141  LIDGNCTPQN PPQKKKVSLL EYRKRQREAR KSGSKTENFP LISVSPHASG SLSNNGDGCA
  1201  SSNDNGEQVD HTASLPLPTP ATVYNATSEE TSNNCPVKDA TASEKNEPEV QWTASTSVEQ
  1261  VRERSYQRAL LLSDHRKDKD SGGESPCVSC SPSHVQSSPS SHSNHIPQLQ AKGPVPSFSE
  1321  LMEDPDPENP EPTTTNECPS PDTSQNTCKS PPKMSKPGSP GSVIPAQAHG KIFTKPDPQW
  1381  DSTVSASEAE NGVHLKTELQ QKQLSNNNQA LSKNHPPQTH VRNSSEQLSQ KLPSVPTKLH
  1441  CPPSPHLENP PKSSTPHTPV QHGYLSPKPP SQQLGSPYRP HHSQSPQVGT PQREPQRNFY
  1501  PAAQNLPANT QQATSGTLFT QTPSGQSSAT YSQFNQQSLN STAPPPPPPP PPSSSYYQNQ
  1561  QPSANFQNYN QLKGSLSQQT VFTSGPNQAL PGTTSQQTVP GHHVTPGHFL PSQNPTIHHQ
  1621  TAAAVVPPPP PPPPAPGPHL VQQPNSHQQH SVAHVVGPVH AVTPGSHIHS QTAGHHLPPP
  1681  PPPPGPAPHH HPPPHPSTGL QGLQAQHQHV VNSAPPPPPP PPPSSVLASG HHTTSAQALH
  1741  HPPHQGPPLF PSSAHPTVPP YPSQATHHTT LGPGPQHQPS GTGPHCPLPV TGPHLQPQGP
  1801  NSIPTPTASG FCPHPGSVAL PHGVQGPQQA SPVPGQIPIH RAQVPPTFQN NYHGSGWH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KMT2E 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.6
Highest tissue expression: 32 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 32 nTPM
retina: 19 nTPM
cerebellum: 17 nTPM
skin: 13 nTPM
cerebral cortex: 12 nTPM
thymus: 12 nTPM

Single-cell type

neutrophils: 1,497 nCPM
innate lymphoid cells: 1,021 nCPM
b-cells: 963 nCPM
cardiomyocytes: 903 nCPM
t-cells: 862 nCPM
plasma cells: 848 nCPM

Immune cell

neutrophil: 234 nTPM
basophil: 187 nTPM
eosinophil: 140 nTPM
memory B-cell: 131 nTPM
naive B-cell: 128 nTPM
gdT-cell: 95 nTPM

Brain region

cerebellum: 77 nTPM
cerebral cortex: 48 nTPM
hypothalamus: 48 nTPM
white matter: 45 nTPM
medulla oblongata: 37 nTPM
basal ganglia: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KMT2E.

Disease | AllUniProt

Conditions KMT2E is implicated in, by any mechanism.

O'Donnell-Luria-Rodan syndrome (ODLURO) MIM:618512

Disease | GeneticClinVar

139 pathogenic / likely-pathogenic of 1,390 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

O'Donnell-Luria-Rodan syndrome
Inborn genetic diseases
See cases
KMT2E-related disorder
Neurodevelopmental disorder

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): 0.06
gnomAD pLI: 1
gnomAD missense Z: 1.42
DepMap mean gene effect: -0.16
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 KMT2E in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

E2F1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KMT2E as an antibody target. Whether an autoantibody or antibody against KMT2E could matter depends on whether native KMT2E is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KMT2E is annotated at the cell surface, where native KMT2E is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label KMT2E as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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