Seroatlas · Human Serome Atlas

ATXN2L

Ataxin-2-like protein

Also known as: A2D, A2lp, ATX2L_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8WWM7
Gene
ATXN2L
Ensembl
ENSG00000168488
Chromosome
16
Canonical length
1075 aa
Protein class
Plasma proteins, Predicted intracellular proteins
Subcellular location
Cytosol

OverviewNCBI Gene

This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1075 residues, UniProt reviewed canonical sequence.

>Q8WWM7|ATXN2L
     1  MLKPQPLQQP SQPQQPPPTQ QAVARRPPGG TSPPNGGLPG PLATSAAPPG PPAAASPCLG
    61  PVAAAGSGLR RGAEGILAPQ PPPPQQHQER PGAAAIGSAR GQSTGKGPPQ SPVFEGVYNN
   121  SRMLHFLTAV VGSTCDVKVK NGTTYEGIFK TLSSKFELAV DAVHRKASEP AGGPRREDIV
   181  DTMVFKPSDV MLVHFRNVDF NYATKDKFTD SAIAMNSKVN GEHKEKVLQR WEGGDSNSDD
   241  YDLESDMSNG WDPNEMFKFN EENYGVKTTY DSSLSSYTVP LEKDNSEEFR QRELRAAQLA
   301  REIESSPQYR LRIAMENDDG RTEEEKHSAV QRQGSGRESP SLASREGKYI PLPQRVREGP
   361  RGGVRCSSSR GGRPGLSSLP PRGPHHLDNS SPGPGSEARG INGGPSRMSP KAQRPLRGAK
   421  TLSSPSNRPS GETSVPPPPA VGRMYPPRSP KSAAPAPISA SCPEPPIGSA VPTSSASIPV
   481  TSSVSDPGVG SISPASPKIS LAPTDVKELS TKEPGRTLEP QELARIAGKV PGLQNEQKRF
   541  QLEELRKFGA QFKLQPSSSP ENSLDPFPPR ILKEEPKGKE KEVDGLLTSE PMGSPVSSKT
   601  ESVSDKEDKP PLAPSGGTEG PEQPPPPCPS QTGSPPVGLI KGEDKDEGPV AEQVKKSTLN
   661  PNAKEFNPTK PLLSVNKSTS TPTSPGPRTH STPSIPVLTA GQSGLYSPQY ISYIPQIHMG
   721  PAVQAPQMYP YPVSNSVPGQ QGKYRGAKGS LPPQRSDQHQ PASAPPMMQA AAAAGPPLVA
   781  ATPYSSYIPY NPQQFPGQPA MMQPMAHYPS QPVFAPMLQS NPRMLTSGSH PQAIVSSSTP
   841  QYPSAEQPTP QALYATVHQS YPHHATQLHA HQPQPATTPT GSQPQSQHAA PSPVQHQAGQ
   901  APHLGSGQPQ QNLYHPGALT GTPPSLPPGP SAQSPQSSFP QPAAVYAIHH QQLPHGFTNM
   961  AHVTQAHVQT GITAAPPPHP GAPHPPQVML LHPPQSHGGP PQGAVPQSGV PALSASTPSP
  1021  YPYIGHPQGE QPGQAPGFPG GADDRIREFS LAGGIWHGRA EGLQVGQDAR VLGGE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATXN2L 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
174 nTPM

Expression across tissuesHPA

Tissue

  • testis: 174 nTPM
  • cerebellum: 146 nTPM
  • spleen: 114 nTPM
  • pituitary gland: 114 nTPM
  • pancreas: 95 nTPM
  • liver: 93 nTPM

Single-cell type

  • retinal ganglion cells: 124 nCPM
  • late primary spermatocytes: 105 nCPM
  • rod photoreceptor cells: 104 nCPM
  • adrenal cortex cells: 95 nCPM
  • early primary spermatocytes: 91 nCPM
  • endometrial luminal cells: 91 nCPM

Immune cell

  • plasmacytoid DC: 5.7 nTPM
  • memory B-cell: 4.3 nTPM
  • naive B-cell: 3 nTPM
  • neutrophil: 2.4 nTPM
  • naive CD8 T-cell: 2.3 nTPM
  • classical monocyte: 2.1 nTPM

Brain region

  • cerebral cortex: 127 nTPM
  • cerebellum: 106 nTPM
  • thalamus: 94 nTPM
  • white matter: 93 nTPM
  • pons: 93 nTPM
  • medulla oblongata: 92 nTPM

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)
0.14
gnomAD pLI
1
gnomAD missense Z
2.25
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 ATXN2L 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 ATXN2L as an antibody target. Whether an autoantibody or antibody against ATXN2L could matter depends on whether native ATXN2L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATXN2L 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 ATXN2L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ATXN2L. 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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