Seroatlas · Human Serome Atlas

ASAH2

Neutral ceramidase

Also known as: ASAH2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9NR71
Gene: ASAH2
Ensembl: ENSG00000188611
Chromosome: 10
Canonical length: 780 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Focal adhesion sites
Secretome location: Intracellular and membrane

OverviewNCBI Gene

Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

780 residues, UniProt reviewed canonical sequence.

>Q9NR71|ASAH2
     1  MAKRTFSNLE TFLIFLLVMM SAITVALLSL LFITSGTIEN HKDLGGHFFS TTQSPPATQG
    61  STAAQRSTAT QHSTATQSST ATQTSPVPLT PESPLFQNFS GYHIGVGRAD CTGQVADINL
   121  MGYGKSGQNA QGILTRLYSR AFIMAEPDGS NRTVFVSIDI GMVSQRLRLE VLNRLQSKYG
   181  SLYRRDNVIL SGTHTHSGPA GYFQYTVFVI ASEGFSNQTF QHMVTGILKS IDIAHTNMKP
   241  GKIFINKGNV DGVQINRSPY SYLQNPQSER ARYSSNTDKE MIVLKMVDLN GDDLGLISWF
   301  AIHPVSMNNS NHLVNSDNVG YASYLLEQEK NKGYLPGQGP FVAAFASSNL GDVSPNILGP
   361  RCINTGESCD NANSTCPIGG PSMCIAKGPG QDMFDSTQII GRAMYQRAKE LYASASQEVT
   421  GPLASAHQWV DMTDVTVWLN STHASKTCKP ALGYSFAAGT IDGVGGLNFT QGKTEGDPFW
   481  DTIRDQILGK PSEEIKECHK PKPILLHTGE LSKPHPWHPD IVDVQIITLG SLAITAIPGE
   541  FTTMSGRRLR EAVQAEFASH GMQNMTVVIS GLCNVYTHYI TTYEEYQAQR YEAASTIYGP
   601  HTLSAYIQLF RNLAKAIATD TVANLSRGPE PPFFKQLIVP LIPSIVDRAP KGRTFGDVLQ
   661  PAKPEYRVGE VAEVIFVGAN PKNSVQNQTH QTFLTVEKYE ATSTSWQIVC NDASWETRFY
   721  WHKGLLGLSN ATVEWHIPDT AQPGIYRIRY FGHNRKQDIL KPAVILSFEG TSPAFEVVTI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASAH2 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: 1
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 74 nTPM

Expression across tissuesHPA

Tissue

duodenum: 74 nTPM
small intestine: 59 nTPM
retina: 6.8 nTPM
stomach: 4.6 nTPM
liver: 2.9 nTPM
pancreas: 1.2 nTPM

Single-cell type

parietal cells: 28 nCPM
enterocytes: 26 nCPM
müller glia: 24 nCPM
late spermatids: 22 nCPM
cardiomyocytes: 8.7 nCPM
early spermatids: 8.2 nCPM

Immune cell

MAIT T-cell: 0.5 nTPM
naive CD8 T-cell: 0.5 nTPM
memory CD8 T-cell: 0.3 nTPM
naive CD4 T-cell: 0.3 nTPM
memory B-cell: 0.2 nTPM
plasmacytoid DC: 0.2 nTPM

Brain region

cerebellum: 17 nTPM
medulla oblongata: 7.7 nTPM
midbrain: 5.9 nTPM
pons: 5.5 nTPM
spinal cord: 3.6 nTPM
basal ganglia: 2.8 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): 1.12
gnomAD pLI: 0
gnomAD missense Z: 0.35
DepMap mean gene effect: 0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

Neutral/alkaline nonlysosomal ceramidase
Neutral/alkaline non-lysosomal ceramidase, C-terminal
Neutral ceramidase, C-terminal domain superfamily
Neutral/alkaline non-lysosomal ceramidase, C-terminal
Neutral/alkaline non-lysosomal ceramidase, N-terminal
Neutral/alkaline non-lysosomal ceramidase, N-terminal

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ASAH2 as an antibody target. Whether an autoantibody or antibody against ASAH2 could matter depends on whether native ASAH2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASAH2 is annotated at the cell surface, where native ASAH2 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 ASAH2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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