The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member ... See more...

Aliases for ANXA9 Gene

Aliases for ANXA9 Gene

  • Annexin A9 2 3 4 5
  • Annexin XXXI 3 4
  • Annexin-9 3 4
  • Pemphaxin 3 4
  • ANX31 3 4
  • Annexin 31 3
  • Annexin-31 4

External Ids for ANXA9 Gene

Previous HGNC Symbols for ANXA9 Gene

  • ANX31

Previous GeneCards Identifiers for ANXA9 Gene

  • GC01P148796
  • GC01P146701
  • GC01P147729
  • GC01P148171
  • GC01P147767
  • GC01P149221
  • GC01P150954
  • GC01P122331

Summaries for ANXA9 Gene

Entrez Gene Summary for ANXA9 Gene

  • The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008]

GeneCards Summary for ANXA9 Gene

ANXA9 (Annexin A9) is a Protein Coding gene. Diseases associated with ANXA9 include Pemphigus and Acantholytic Acanthoma. Gene Ontology (GO) annotations related to this gene include calcium ion binding and phospholipid binding. An important paralog of this gene is ANXA2.

UniProtKB/Swiss-Prot Summary for ANXA9 Gene

  • Low affinity receptor for acetylcholine known to be targeted by disease-causing pemphigus vulgaris antibodies in keratinocytes.

Gene Wiki entry for ANXA9 Gene

Additional gene information for ANXA9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANXA9 Gene

Genomics for ANXA9 Gene

GeneHancer (GH) Regulatory Elements for ANXA9 Gene

Promoters and enhancers for ANXA9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANXA9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANXA9

Top Transcription factor binding sites by QIAGEN in the ANXA9 gene promoter:
  • AREB6
  • GR
  • GR-alpha
  • GR-beta
  • HTF
  • SRF
  • SRF (504 AA)
  • USF-1
  • USF1

Genomic Locations for ANXA9 Gene

Genomic Locations for ANXA9 Gene
chr1:150,982,023-150,996,063
(GRCh38/hg38)
Size:
14,041 bases
Orientation:
Plus strand
chr1:150,954,493-150,968,114
(GRCh37/hg19)
Size:
13,622 bases
Orientation:
Plus strand

Genomic View for ANXA9 Gene

Genes around ANXA9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANXA9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANXA9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANXA9 Gene

Proteins for ANXA9 Gene

  • Protein details for ANXA9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76027-ANXA9_HUMAN
    Recommended name:
    Annexin A9
    Protein Accession:
    O76027
    Secondary Accessions:
    • Q5SZF1
    • Q6FI55
    • Q9BS00
    • Q9HBJ6

    Protein attributes for ANXA9 Gene

    Size:
    345 amino acids
    Molecular mass:
    38364 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAH05830.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA08933.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for ANXA9 Gene

Post-translational modifications for ANXA9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANXA9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANXA9 Gene

Domains & Families for ANXA9 Gene

Gene Families for ANXA9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ANXA9 Gene

Blocks:
  • Annexin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANXA9 Gene

GenScript: Design optimal peptide antigens:
  • Pemphaxin (ANXA9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O76027

UniProtKB/Swiss-Prot:

ANXA9_HUMAN :
  • Belongs to the annexin family.
Family:
  • Belongs to the annexin family.
genes like me logo Genes that share domains with ANXA9: view

Function for ANXA9 Gene

Molecular function for ANXA9 Gene

UniProtKB/Swiss-Prot Function:
Low affinity receptor for acetylcholine known to be targeted by disease-causing pemphigus vulgaris antibodies in keratinocytes.
GENATLAS Biochemistry:
annexin A9,mainly expressed in undifferentiating tissues,homolog of annexin 2 and derived by duplication of annexin 1

Phenotypes From GWAS Catalog for ANXA9 Gene

Gene Ontology (GO) - Molecular Function for ANXA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IDA 12832069
GO:0002020 protease binding IBA 21873635
GO:0005262 calcium channel activity IBA 21873635
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 22841549
genes like me logo Genes that share ontologies with ANXA9: view
genes like me logo Genes that share phenotypes with ANXA9: view

Animal Models for ANXA9 Gene

MGI Knock Outs for ANXA9:
  • Anxa9 Anxa9<tm1b(EUCOMM)Wtsi>

Animal Model Products

Clone Products

  • Addgene plasmids for ANXA9

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ANXA9 Gene

Localization for ANXA9 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 ANXA9 gene
Compartment Confidence
cytosol 5
plasma membrane 4
extracellular 4
nucleus 4
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANXA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA 21873635
GO:0005623 cell IEA --
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IDA 12832069
genes like me logo Genes that share ontologies with ANXA9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ANXA9 Gene

Pathways & Interactions for ANXA9 Gene

PathCards logo

SuperPathways for ANXA9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANXA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IBA 21873635
GO:0001765 membrane raft assembly IBA 21873635
GO:0001921 positive regulation of receptor recycling IBA 21873635
GO:0001934 positive regulation of protein phosphorylation IBA 21873635
GO:0003417 growth plate cartilage development IBA 21873635
genes like me logo Genes that share ontologies with ANXA9: view

No data available for Pathways by source and SIGNOR curated interactions for ANXA9 Gene

Drugs & Compounds for ANXA9 Gene

(1) Drugs for ANXA9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(124) Additional Compounds for ANXA9 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PS(14:0/14:0)
  • 1-Myristoyl-2-myristoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:0)
  • Phosphatidylserine(28:0)
  • PS(28:0)
  • pSer(14:0/14:0)
PS(14:0/14:1(9Z))
  • 1-Myristoyl-2-myristoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:1)
  • Phosphatidylserine(14:0/14:1n5)
  • Phosphatidylserine(14:0/14:1W5)
  • Phosphatidylserine(28:1)
PS(14:0/16:0)
  • 1-Myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:0)
  • Phosphatidylserine(30:0)
  • PS(30:0)
  • pSer(14:0/16:0)
PS(14:0/16:1(9Z))
  • 1-Myristoyl-2-palmitoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:1)
  • Phosphatidylserine(14:0/16:1n7)
  • Phosphatidylserine(14:0/16:1W7)
  • Phosphatidylserine(30:1)
PS(14:0/18:0)
  • 1-Myristoyl-2-stearoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/18:0)
  • Phosphatidylserine(32:0)
  • PS(32:0)
  • pSer(14:0/18:0)
genes like me logo Genes that share compounds with ANXA9: view

Transcripts for ANXA9 Gene

mRNA/cDNA for ANXA9 Gene

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

Clone Products

  • Addgene plasmids for ANXA9

Alternative Splicing Database (ASD) splice patterns (SP) for ANXA9 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
SP1: -
SP2:
SP3: -

Relevant External Links for ANXA9 Gene

GeneLoc Exon Structure for
ANXA9

Expression for ANXA9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANXA9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANXA9 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x5.4), Pancreas (x4.6), Liver (x4.3), and Skin - Not Sun Exposed (Suprapubic) (x4.2).

Protein differential expression in normal tissues from HIPED for ANXA9 Gene

This gene is overexpressed in Cervix (50.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANXA9 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANXA9

SOURCE GeneReport for Unigene cluster for ANXA9 Gene:

Hs.3346

mRNA Expression by UniProt/SwissProt for ANXA9 Gene:

O76027-ANXA9_HUMAN
Tissue specificity: Expressed in the stratified squamous skin epithelium, but not in epithelia of other types (at protein level).

Evidence on tissue expression from TISSUES for ANXA9 Gene

  • Liver(4.4)
  • Intestine(4.2)
  • Spleen(4)
  • Gall bladder(2.1)
genes like me logo Genes that share expression patterns with ANXA9: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANXA9 Gene

Orthologs for ANXA9 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANXA9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANXA9 31 30
  • 99.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANXA9 31 30
  • 87.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANXA9 31 30
  • 85.22 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Anxa9 30
  • 81.3 (n)
mouse
(Mus musculus)
Mammalia Anxa9 17 31 30
  • 79.61 (n)
oppossum
(Monodelphis domestica)
Mammalia ANXA9 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia anxa9 30
  • 56.26 (n)
African clawed frog
(Xenopus laevis)
Amphibia anxa9-prov 30
zebrafish
(Danio rerio)
Actinopterygii ANXA9 31
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nex-1 31
  • 26 (a)
ManyToMany
nex-3 31
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 34 (a)
ManyToMany
Species where no ortholog for ANXA9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for ANXA9 Gene

ENSEMBL:
Gene Tree for ANXA9 (if available)
TreeFam:
Gene Tree for ANXA9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANXA9: view image

Paralogs for ANXA9 Gene

(15) SIMAP similar genes for ANXA9 Gene using alignment to 1 proteins:

  • ANXA9_HUMAN
genes like me logo Genes that share paralogs with ANXA9: view

Variants for ANXA9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANXA9 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs16832595 - p.Ala28Thr
rs16832602 - p.Ala119Thr
rs267733 - p.Asp166Gly
rs7536645 - p.Thr114Ala
rs7542365 - p.Arg232Gln

Additional dbSNP identifiers (rs#s) for ANXA9 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANXA9 Gene

Variant ID Type Subtype PubMed ID
nsv1008496 CNV gain 25217958
nsv522317 CNV loss 19592680
nsv522840 CNV gain 19592680

Variation tolerance for ANXA9 Gene

Residual Variation Intolerance Score: 95.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.60; 72.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANXA9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANXA9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANXA9 Gene

Disorders for ANXA9 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ANXA9 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pemphigus
acantholytic acanthoma
miyoshi muscular dystrophy
  • miyoshi myopathy
- elite association - COSMIC cancer census association via MalaCards
Search ANXA9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ANXA9

genes like me logo Genes that share disorders with ANXA9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANXA9 Gene

Publications for ANXA9 Gene

  1. Expression profile and structural divergence of novel human annexin 31. (PMID: 9742942) Morgan RO … Fernandez MP (FEBS letters 1998) 2 3 4 23 54
  2. Human annexin 31 genetic mapping and origin. (PMID: 9931420) Morgan RO … Fernandez MP (Gene 1999) 2 3 23 54
  3. Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. (PMID: 21926416) Amos CI … Wei Q (Human molecular genetics 2011) 3 41 54
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for ANXA9 Gene

Sources for ANXA9 Gene