Seroatlas · Human Serome Atlas

ASTN2

Astrotactin-2

Also known as: ASTN2_HUMAN, KIAA0634

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

Protein identityUniProt · HPA

UniProt accession: O75129
Gene: ASTN2
Ensembl: ENSG00000148219
Chromosome: 9
Canonical length: 1339 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

1339 residues, UniProt reviewed canonical sequence.

>O75129|ASTN2
     1  MAAAGARLSP GPGSGLRGRP RLCFHPGPPP LLPLLLLFLL LLPPPPLLAG ATAAASREPD
    61  SPCRLKTVTV STLPALRESD IGWSGARAGA GAGTGAGAAA AAASPGSPGS AGTAAESRLL
   121  LFVRNELPGR IAVQDDLDNT ELPFFTLEMS GTAADISLVH WRQQWLENGT LYFHVSMSSS
   181  GQLAQATAPT LQEPSEIVEE QMHILHISVM GGLIALLLLL LVFTVALYAQ RRWQKRRRIP
   241  QKSASTEATH EIHYIPSVLL GPQARESFRS SRLQTHNSVI GVPIRETPIL DDYDCEEDEE
   301  PPRRANHVSR EDEFGSQVTH TLDSLGHPGE EKVDFEKKAA AEATQETVES LMQKFKESFR
   361  ANTPIEIGQL QPPLRSTSAG KRKRRSKSRG GISFGRAKGT SGSEADDETQ LTFYTEQYRS
   421  RRRSKGLLKS PVNKTALTLI AVSSCILAMV CGSQMSCPLT VKVTLHVPEH FIADGSSFVV
   481  SEGSYLDISD WLNPAKLSLY YQINATSPWV RDLCGQRTTD ACEQLCDPET GECSCHEGYA
   541  PDPVHRHLCV RSDWGQSEGP WPYTTLERGY DLVTGEQAPE KILRSTFSLG QGLWLPVSKS
   601  FVVPPVELSI NPLASCKTDV LVTEDPADVR EEAMLSTYFE TINDLLSSFG PVRDCSRNNG
   661  GCTRNFKCVS DRQVDSSGCV CPEELKPMKD GSGCYDHSKG IDCSDGFNGG CEQLCLQQTL
   721  PLPYDATSST IFMFCGCVEE YKLAPDGKSC LMLSDVCEGP KCLKPDSKFN DTLFGEMLHG
   781  YNNRTQHVNQ GQVFQMTFRE NNFIKDFPQL ADGLLVIPLP VEEQCRGVLS EPLPDLQLLT
   841  GDIRYDEAMG YPMVQQWRVR SNLYRVKLST ITLAAGFTNV LKILTKESSR EELLSFIQHY
   901  GSHYIAEALY GSELTCIIHF PSKKVQQQLW LQYQKETTEL GSKKELKSMP FITYLSGLLT
   961  AQMLSDDQLI SGVEIRCEEK GRCPSTCHLC RRPGKEQLSP TPVLLEINRV VPLYTLIQDN
  1021  GTKEAFKSAL MSSYWCSGKG DVIDDWCRCD LSAFDANGLP NCSPLLQPVL RLSPTVEPSS
  1081  TVVSLEWVDV QPAIGTKVSD YILQHKKVDE YTDTDLYTGE FLSFADDLLS GLGTSCVAAG
  1141  RSHGEVPEVS IYSVIFKCLE PDGLYKFTLY AVDTRGRHSE LSTVTLRTAC PLVDDNKAEE
  1201  IADKIYNLYN GYTSGKEQQM AYNTLMEVSA SMLFRVQHHY NSHYEKFGDF VWRSEDELGP
  1261  RKAHLILRRL ERVSSHCSSL LRSAYIQSRV ETVPYLFCRS EEVRPAGMVW YSILKDTKIT
  1321  CEEKMVSMAR NTYGESKGR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASTN2 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: 2
Mean surface accessibility (rSASA): 0.46
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

prostate: 24 nTPM
heart muscle: 21 nTPM
cerebral cortex: 20 nTPM
cerebellum: 19 nTPM
hypothalamus: 19 nTPM
midbrain: 18 nTPM

Single-cell type

pituicytes/fscs: 2,079 nCPM
oligodendrocyte progenitor cells: 1,333 nCPM
retinal ganglion cells: 1,194 nCPM
prostatic glandular cells: 1,015 nCPM
sertoli cells: 978 nCPM
ependymal cells: 910 nCPM

Immune cell

T-reg: 8.7 nTPM
NK-cell: 5.7 nTPM
MAIT T-cell: 3.5 nTPM
memory CD4 T-cell: 3 nTPM
naive CD4 T-cell: 2.9 nTPM
gdT-cell: 2.7 nTPM

Brain region

midbrain: 126 nTPM
thalamus: 123 nTPM
cerebellum: 121 nTPM
white matter: 119 nTPM
cerebral cortex: 116 nTPM
medulla oblongata: 109 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ASTN2.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 272 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

See cases
Autism

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): 0.25
gnomAD pLI: 1
gnomAD missense Z: 1.16
DepMap mean gene effect: 0.15
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

Membrane attack complex component/perforin (MACPF) domain
Astrotactin
Fibronectin type III superfamily
Annexin-like domain
Astrotactin-1/2, Fn3 domain
Astrotactin-1/2, N-terminal
MAC/Perforin domain
Annexin-like domain
Astrotactin 1/2 N-terminal
ASTN1/2 Fn3 domain
Astrotactin-2, C-terminal beta-hairpin domain
Astrotactin-2 C-terminal beta-hairpin domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ASTN2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

ASTN1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ASTN2 as an antibody target. Whether an autoantibody or antibody against ASTN2 could matter depends on whether native ASTN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASTN2 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 ASTN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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