Seroatlas · Human Serome Atlas

ASXL2

Putative Polycomb group protein ASXL2

Also known as: ASXH2, ASXL2_HUMAN, FLJ10898, KIAA1685

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

Protein identityUniProt · HPA

UniProt accession: Q76L83
Gene: ASXL2
Ensembl: ENSG00000143970
Chromosome: 2
Canonical length: 1435 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]

Canonical amino-acid sequenceUniProt

1435 residues, UniProt reviewed canonical sequence.

>Q76L83|ASXL2
     1  MREKGRRKKG RTWAEAAKTV LEKYPNTPMS HKEILQVIQR EGLKEIRSGT SPLACLNAML
    61  HTNSRGEEGI FYKVPGRMGV YTLKKDVPDG VKELSEGSEE SSDGQSDSQS SENSSSSSDG
   121  GSNKEGKKSR WKRKVSSSSP QSGCPSPTIP AGKVISPSQK HSKKALKQAL KQQQQKKQQQ
   181  QCRPSISISS NQHLSLKTVK AASDSVPAKP ATWEGKQSDG QTGSPQNSNS SFSSSVKVEN
   241  TLLGLGKKSF QRSERLHTRQ MKRTKCADID VETPDSILVN TNLRALINKH TFSVLPGDCQ
   301  QRLLLLLPEV DRQVGPDGLM KLNGSALNNE FFTSAAQGWK ERLSEGEFTP EMQVRIRQEI
   361  EKEKKVEPWK EQFFESYYGQ SSGLSLEDSK KLTASPSDPK VKKTPAEQPK SMPVSEASLI
   421  RIVPVVSQSE CKEEALQMSS PGRKEECESQ GEVQPNFSTS SEPLLSSALN THELSSILPI
   481  KCPKDEDLLE QKPVTSAEQE SEKNHLTTAS NYNKSESQES LVTSPSKPKS PGVEKPIVKP
   541  TAGAGPQETN MKEPLATLVD QSPESLKRKS SLTQEEAPVS WEKRPRVTEN RQHQQPFQVS
   601  PQPFLNRGDR IQVRKVPPLK IPVSRISPMP FHPSQVSPRA RFPVSITSPN RTGARTLADI
   661  KAKAQLVKAQ RAAAAAAAAA AAAASVGGTI PGPGPGGGQG PGEGGEGQTA RGGSPGSDRV
   721  SETGKGPTLE LAGTGSRGGT RELLPCGPET QPQSETKTTP SQAQPHSVSG AQLQQTPPVP
   781  PTPAVSGACT SVPSPAHIEK LDNEKLNPTR ATATVASVSH PQGPSSCRQE KAPSPTGPAL
   841  ISGASPVHCA ADGTVELKAG PSKNIPNPSA SSKTDASVPV AVTPSPLTSL LTTATLEKLP
   901  VPQVSATTAP AGSAPPSSTL PAASSLKTPG TSLNMNGPTL RPTSSIPANN PLVTQLLQGK
   961  DVPMEQILPK PLTKVEMKTV PLTAKEERGM GALIATNTTE NSTREEVNER QSHPATQQQL
  1021  GKTLQSKQLP QVPRPLQLFS AKELRDSSID THQYHEGLSK ATQDQILQTL IQRVRRQNLL
  1081  SVVPPSQFNF AHSGFQLEDI STSQRFMLGF AGRRTSKPAM AGHYLLNIST YGRGSESFRR
  1141  THSVNPEDRF CLSSPTEALK MGYTDCKNAT GESSSSKEDD TDEESTGDEQ ESVTVKEEPQ
  1201  VSQSAGKGDT SSGPHSRETL STSDCLASKN VKAEIPLNEQ TTLSKENYLF TRGQTFDEKT
  1261  LARDLIQAAQ KQMAHAVRGK AIRSSPELFS STVLPLPADS PTHQPLLLPP LQTPKLYGSP
  1321  TQIGPSYRGM INVSTSSDMD HNSAVPGSQV SSNVGDVMSF SVTVTTIPAS QAMNPSSHGQ
  1381  TIPVQAFSEE NSIEGTPSKC YCRLKAMIMC KGCGAFCHDD CIGPSKLCVS CLVVR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASXL2 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): 0.64
Highest tissue expression: 17 nTPM

Expression across tissuesHPA

Tissue

testis: 17 nTPM
parathyroid gland: 13 nTPM
thymus: 13 nTPM
lymph node: 10 nTPM
thyroid gland: 9.9 nTPM
tonsil: 9.9 nTPM

Single-cell type

neutrophil progenitors: 245 nCPM
neutrophils: 237 nCPM
sertoli cells: 212 nCPM
myonuclei: 183 nCPM
microglia: 163 nCPM
t-cells: 158 nCPM

Immune cell

neutrophil: 6.2 nTPM
eosinophil: 4.3 nTPM
non-classical monocyte: 3.4 nTPM
classical monocyte: 2.7 nTPM
gdT-cell: 2.7 nTPM
naive CD8 T-cell: 2.5 nTPM

Brain region

medulla oblongata: 54 nTPM
hypothalamus: 53 nTPM
thalamus: 51 nTPM
midbrain: 49 nTPM
white matter: 49 nTPM
cerebellum: 48 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ASXL2.

Disease | AllUniProt

Conditions ASXL2 is implicated in, by any mechanism.

Shashi-Pena syndrome (SHAPNS) MIM:617190

Disease | GeneticClinVar

28 pathogenic / likely-pathogenic of 671 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 0.15
gnomAD pLI: 1
gnomAD missense Z: 1.71

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 ASXL2 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 ASXL2 as an antibody target. Whether an autoantibody or antibody against ASXL2 could matter depends on whether native ASXL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASXL2 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 ASXL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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