Seroatlas · Human Serome Atlas

H2AP

Huntingtin-interacting protein M

Also known as: CXorf27, HIP17, HYPM, HYPM_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O75409
Gene: H2AP
Ensembl: ENSG00000187516
Chromosome: X
Canonical length: 117 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein shown to interact with huntingtin, which contains an expanded polyglutamine tract in individuals with Huntington's disease (PMID: 9700202). [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

117 residues, UniProt reviewed canonical sequence.

>O75409|H2AP
     1  MSEKKNCKNS STNNNQTQDP SRNELQVPRS FVDRVVQDER DVQSQSSSTI NTLLTLLDCL
    61  ADYIMERVGL EASNNGSMRN TSQDREREVD NNREPHSAES DVTRFLFDEM PKSRKND

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against H2AP 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): 0.61
Highest tissue expression: 45 nTPM

Expression across tissuesHPA

Tissue

testis: 45 nTPM
skin: 0.2 nTPM
adrenal gland: 0.1 nTPM
basal ganglia: 0.1 nTPM
hypothalamus: 0.1 nTPM
kidney: 0.1 nTPM

Single-cell type

late spermatids: 2,063 nCPM
early spermatids: 377 nCPM
late primary spermatocytes: 114 nCPM
peritubular myoid cells: 4.5 nCPM
leydig cells: 2.4 nCPM
epididymal clear cells: 2 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

hypothalamus: 3.8 nTPM
basal ganglia: 3.2 nTPM
hippocampal formation: 2.3 nTPM
cerebral cortex: 1.8 nTPM
amygdala: 1.4 nTPM
medulla oblongata: 1.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about H2AP.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 17 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Short stature

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
gnomAD pLI: 0
DepMap mean gene effect: 0.14
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

heterochromatin formation

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Histone-fold

InteractionsUniProt · HPA

Protein binding partners of H2AP 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 H2AP as an antibody target. Whether an autoantibody or antibody against H2AP could matter depends on whether native H2AP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

H2AP 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 H2AP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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