Seroatlas · Human Serome Atlas

JARID2

Protein Jumonji

Also known as: JARD2_HUMAN, JMJ

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

Protein identityUniProt · HPA

UniProt accession: Q92833
Gene: JARID2
Ensembl: ENSG00000008083
Chromosome: 6
Canonical length: 1246 aa
Protein class: Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Mitochondria

OverviewNCBI Gene

This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]

Canonical amino-acid sequenceUniProt

1246 residues, UniProt reviewed canonical sequence.

>Q92833|JARID2
     1  MSKERPKRNI IQKKYDDSDG IPWSEERVVR KVLYLSLKEF KNSQKRQHAE GIAGSLKTVN
    61  GLLGNDQSKG LGPASEQSEN EKDDASQVSS TSNDVSSSDF EEGPSRKRPR LQAQRKFAQS
   121  QPNSPSTTPV KIVEPLLPPP ATQISDLSKR KPKTEDFLTF LCLRGSPALP NSMVYFGSSQ
   181  DEEEVEEEDD ETEDVKTATN NASSSCQSTP RKGKTHKHVH NGHVFNGSSR STREKEPVQK
   241  HKSKEATPAK EKHSDHRADS RREQASANHP AAAPSTGSSA KGLAATHHHP PLHRSAQDLR
   301  KQVSKVNGVT RMSSLGAGVT SAKKMREVRP SPSKTVKYTA TVTKGAVTYT KAKRELVKDT
   361  KPNHHKPSSA VNHTISGKTE SSNAKTRKQV LSLGGASKST GPAVNGLKVS GRLNPKSCTK
   421  EVGGRQLREG LQLREGLRNS KRRLEEAHQA EKPQSPPKKM KGAAGPAEGP GKKAPAERGL
   481  LNGHVKKEVP ERSLERNRPK RATAGKSTPG RQAHGKADSA SCENRSTSQP ESVHKPQDSG
   541  KAEKGGGKAG WAAMDEIPVL RPSAKEFHDP LIYIESVRAQ VEKFGMCRVI PPPDWRPECK
   601  LNDEMRFVTQ IQHIHKLGRR WGPNVQRLAC IKKHLKSQGI TMDELPLIGG CELDLACFFR
   661  LINEMGGMQQ VTDLKKWNKL ADMLRIPRTA QDRLAKLQEA YCQYLLSYDS LSPEEHRRLE
   721  KEVLMEKEIL EKRKGPLEGH TENDHHKFHP LPRFEPKNGL IHGVAPRNGF RSKLKEVGQA
   781  QLKTGRRRLF AQEKEVVKEE EEDKGVLNDF HKCIYKGRSV SLTTFYRTAR NIMSMCFSKE
   841  PAPAEIEQEY WRLVEEKDCH VAVHCGKVDT NTHGSGFPVG KSEPFSRHGW NLTVLPNNTG
   901  SILRHLGAVP GVTIPWLNIG MVFSTSCWSR DQNHLPYIDY LHTGADCIWY CIPAEEENKL
   961  EDVVHTLLQA NGTPGLQMLE SNVMISPEVL CKEGIKVHRT VQQSGQFVVC FPGSFVSKVC
  1021  CGYSVSETVH FATTQWTSMG FETAKEMKRR HIAKPFSMEK LLYQIAQAEA KKENGPTLST
  1081  ISALLDELRD TELRQRRQLF EAGLHSSARY GSHDGSSTVA DGKKKPRKWL QLETSERRCQ
  1141  ICQHLCYLSM VVQENENVVF CLECALRHVE KQKSCRGLKL MYRYDEEQII SLVNQICGKV
  1201  SGKNGSIENC LSKPTPKRGP RKRATVDVPP SRLSASSSSK SASSSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against JARID2 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): 0.48
Highest tissue expression: 55 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 55 nTPM
cerebellum: 20 nTPM
thymus: 19 nTPM
retina: 19 nTPM
testis: 15 nTPM
esophagus: 13 nTPM

Single-cell type

monocytes: 2,369 nCPM
neutrophils: 1,192 nCPM
endometrial luminal cells: 1,052 nCPM
cdc: 977 nCPM
endometrial glandular cells: 832 nCPM
monocyte progenitors: 734 nCPM

Immune cell

neutrophil: 13 nTPM
basophil: 10 nTPM
NK-cell: 4.9 nTPM
plasmacytoid DC: 4.4 nTPM
classical monocyte: 3.8 nTPM
gdT-cell: 3.4 nTPM

Brain region

cerebellum: 53 nTPM
cerebral cortex: 22 nTPM
thalamus: 21 nTPM
white matter: 20 nTPM
pons: 20 nTPM
hippocampal formation: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about JARID2.

Disease | AllUniProt

Conditions JARID2 is implicated in, by any mechanism.

Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF) MIM:620098

Disease | GeneticClinVar

28 pathogenic / likely-pathogenic of 374 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental delay with variable intellectual disability and dysmorphic facies
Inborn genetic diseases
Neurodevelopmental disorder
Mild intellectual disability
Intellectual disability

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): 0.19
gnomAD pLI: 1
gnomAD missense Z: 2.69
DepMap mean gene effect: -0.01
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 JARID2 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 JARID2 as an antibody target. Whether an autoantibody or antibody against JARID2 could matter depends on whether native JARID2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

JARID2 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 JARID2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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