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] See more...

Aliases for H2AP Gene

Aliases for H2AP Gene

  • H2A.P Histone 2 3 5
  • Huntingtin Interacting Protein M 2 3
  • Huntingtin-Interacting Protein M 3 4
  • Huntingtin Yeast Partner M 3 4
  • Histone H2A.P 3 4
  • CXorf27 3 4
  • HIP17 2 3
  • HYPM 3 4
  • Chromosome X Open Reading Frame 27 2
  • H2AP 5

External Ids for H2AP Gene

Previous HGNC Symbols for H2AP Gene

  • CXorf27
  • HYPM

Summaries for H2AP Gene

Entrez Gene Summary for H2AP 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]

GeneCards Summary for H2AP Gene

H2AP (H2A.P Histone) is a Protein Coding gene. Diseases associated with H2AP include Huntington Disease.

Additional gene information for H2AP Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for H2AP Gene

Genomics for H2AP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for H2AP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ037989 Enhancer 0.3 Ensembl 600.7 -1.6 -1578 0.4 CEBPB JUN H2AP piR-56133-232 SYTL5 ENSG00000250349
GH0XJ037991 Enhancer 0.2 Ensembl 600.7 +0.6 622 0.8 H2AP H2AL1RP SYTL5 SRPX ENSG00000250349
GH0XJ037993 Enhancer 0.7 Ensembl ENCODE 0.7 +3.6 3605 0.8 RFX1 BMI1 MYNN CSDE1 ZBTB7B ZNF143 MXI1 EGR2 H2AL1RP H2AP piR-46501-102 SYTL5 SRPX ENSG00000250349
GH0XJ038005 Promoter/Enhancer 0.9 EPDnew ENCODE 0.4 +15.6 15626 1.3 CTBP1 ZNF217 NCOR1 KLF9 DPF2 TAL1 FOXA1 ATF4 SMARCE1 CBFA2T3 SYTL5 piR-46501-102 RF01061-192 H2AP SRPX ENSG00000250349
GH0XJ037904 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 0.2 -85.0 -84958 2 PRDM10 ZNF629 CTCF ZIC2 PATZ1 ZNF341 SP2 SP1 RFX1 ZXDB ENSG00000259977 SYTL5 RNU6-49P lnc-CYBB-1 H2AP ENSG00000250349
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around H2AP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for H2AP

Genomic Locations for H2AP Gene

Genomic Locations for H2AP Gene
chrX:37,990,779-37,991,314
(GRCh38/hg38)
Size:
536 bases
Orientation:
Plus strand
chrX:37,850,070-37,850,570
(GRCh37/hg19)
Size:
501 bases
Orientation:
Plus strand

Genomic View for H2AP Gene

Genes around H2AP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2AP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2AP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2AP Gene

Proteins for H2AP Gene

  • Protein details for H2AP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75409-HYPM_HUMAN
    Recommended name:
    Huntingtin-interacting protein M
    Protein Accession:
    O75409
    Secondary Accessions:
    • A1A4D3

    Protein attributes for H2AP Gene

    Size:
    117 amino acids
    Molecular mass:
    13442 Da
    Quaternary structure:
    • May interact with the N-terminus of HD.
    SequenceCaution:
    • Sequence=AAC26851.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for H2AP Gene

Post-translational modifications for H2AP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for H2AP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for H2AP Gene

Domains & Families for H2AP Gene

Gene Families for H2AP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for H2AP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for H2AP Gene

GenScript: Design optimal peptide antigens:
  • Huntingtin yeast partner M (HYPM_HUMAN)
genes like me logo Genes that share domains with H2AP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for H2AP Gene

Function for H2AP Gene

Gene Ontology (GO) - Molecular Function for H2AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with H2AP: view
genes like me logo Genes that share phenotypes with H2AP: view

Animal Model Products

CRISPR Products

miRNA for H2AP Gene

miRTarBase miRNAs that target H2AP

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for H2AP

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for H2AP Gene

Localization for H2AP Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for H2AP gene
Compartment Confidence
nucleus 4
cytosol 1

Gene Ontology (GO) - Cellular Components for H2AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IBA 21873635
genes like me logo Genes that share ontologies with H2AP: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for H2AP Gene

Pathways & Interactions for H2AP Gene

PathCards logo

SuperPathways for H2AP Gene

No Data Available

Gene Ontology (GO) - Biological Process for H2AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IBA 21873635
GO:0006342 chromatin silencing IBA 21873635
genes like me logo Genes that share ontologies with H2AP: view

No data available for Pathways by source and SIGNOR curated interactions for H2AP Gene

Drugs & Compounds for H2AP Gene

No Compound Related Data Available

Transcripts for H2AP Gene

mRNA/cDNA for H2AP Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for H2AP

Alternative Splicing Database (ASD) splice patterns (SP) for H2AP Gene

No ASD Table

Relevant External Links for H2AP Gene

GeneLoc Exon Structure for
H2AP

Expression for H2AP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for H2AP

No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for H2AP Gene

Orthologs for H2AP Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for H2AP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CXHXorf27 30
  • 99.43 (n)
CXorf27 31
  • 99 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 1700054O13Rik 31
  • 48 (a)
OneToOne
Species where no ortholog for H2AP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for H2AP Gene

ENSEMBL:
Gene Tree for H2AP (if available)
TreeFam:
Gene Tree for H2AP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for H2AP: view image

Paralogs for H2AP Gene

No data available for Paralogs for H2AP Gene

Variants for H2AP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for H2AP Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs1569148952 Pathogenic: Short stature 37,991,159(+) TTG/T FRAMESHIFT_VARIANT
rs6651635 - p.Val68Ile

Additional dbSNP identifiers (rs#s) for H2AP Gene

Structural Variations from Database of Genomic Variants (DGV) for H2AP Gene

Variant ID Type Subtype PubMed ID
esv2752323 CNV gain 17911159
nsv518029 CNV gain 19592680
nsv519012 CNV gain 19592680

Variation tolerance for H2AP Gene

Residual Variation Intolerance Score: 72.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.24; 5.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for H2AP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2AP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for H2AP Gene

Disorders for H2AP Gene

MalaCards: The human disease database

(1) MalaCards diseases for H2AP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
huntington disease
  • hd
- elite association - COSMIC cancer census association via MalaCards
Search H2AP in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with H2AP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for H2AP Gene

Publications for H2AP Gene

  1. Huntingtin interacts with a family of WW domain proteins. (PMID: 9700202) Faber PW … MacDonald ME (Human molecular genetics 1998) 2 3 4
  2. Evolutionary origins and diversification of testis-specific short histone H2A variants in mammals. (PMID: 29549088) Molaro A … Malik HS (Genome research 2018) 2 3
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland SL … Hayden MR (Human molecular genetics 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3

Products for H2AP Gene

Sources for H2AP Gene