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Aliases for ANXA7 Gene

Aliases for ANXA7 Gene

  • Annexin A7 2 3 5
  • Annexin VII 3 4
  • Annexin-7 3 4
  • SYNEXIN 3 4
  • ANX7 3 4
  • SNX 3 4

External Ids for ANXA7 Gene

Previous HGNC Symbols for ANXA7 Gene

  • ANX7

Previous GeneCards Identifiers for ANXA7 Gene

  • GC10M073913
  • GC10M074238
  • GC10M075027
  • GC10M074479
  • GC10M074805
  • GC10M075135
  • GC10M069130

Summaries for ANXA7 Gene

Entrez Gene Summary for ANXA7 Gene

  • Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]

GeneCards Summary for ANXA7 Gene

ANXA7 (Annexin A7) is a Protein Coding gene. Diseases associated with ANXA7 include Hereditary Spherocytosis. Among its related pathways are Cytoskeletal Signaling and Ca, cAMP and Lipid Signaling. GO annotations related to this gene include poly(A) RNA binding and integrin binding. An important paralog of this gene is ANXA11.

UniProtKB/Swiss-Prot for ANXA7 Gene

  • Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis.

Gene Wiki entry for ANXA7 Gene

Additional gene information for ANXA7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANXA7 Gene

Genomics for ANXA7 Gene

Regulatory Elements for ANXA7 Gene

Enhancers for ANXA7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H073964 2.4 VISTA FANTOM5 Ensembl ENCODE dbSUPER 5.2 -553.1 -553117 6 PKNOX1 SIN3A FEZF1 ZNF2 ETS1 GTF3C2 GLIS2 ATF7 FOS SP3 SEC24C GLUD1P3 ENSG00000272140 DUSP8P5 BMS1P4 AP3M1 ENSG00000242288 ECD ZSWIM8 RPL17P50
GH10H073955 1.6 FANTOM5 Ensembl ENCODE 4.2 -544.2 -544197 4 PKNOX1 ARNT YBX1 ZNF766 ZNF143 JUNB REST ZNF592 MEF2D SMARCA4 VCL PLAU C10orf55 NDST2 ADK ANXA7 CFAP70 FUT11 GC10M073941
GH10H073886 1.9 FANTOM5 Ensembl ENCODE dbSUPER 3.5 -476.9 -476927 10 HDGF PKNOX1 FOXA2 SIN3A ZNF2 ZNF121 GLIS2 GATA2 ZNF143 ZNF207 NDST2 ENSG00000272791 ENSG00000268584 AGAP5 ENSG00000227540 C10orf55 FUT11 ENSG00000229990 ENSG00000272599 ENSG00000224195
GH10H073978 1.1 Ensembl ENCODE dbSUPER 5.1 -565.5 -565518 1 ELF1 REST ZNF592 POLR2A MTA1 ZBTB33 MYC SPI1 ADK ANXA7 VCL GC10M073941
GH10H073983 0.9 Ensembl ENCODE dbSUPER 5.1 -569.8 -569791 0 GATA2 ZBTB2 ADK ANXA7 CHCHD1 VCL GC10M073941
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANXA7 on UCSC Golden Path with GeneCards custom track

Promoters for ANXA7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000029816 383 1801 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for ANXA7 Gene

Chromosome:
10
Start:
73,375,101 bp from pter
End:
73,414,083 bp from pter
Size:
38,983 bases
Orientation:
Minus strand

Genomic View for ANXA7 Gene

Genes around ANXA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANXA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANXA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANXA7 Gene

Proteins for ANXA7 Gene

  • Protein details for ANXA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20073-ANXA7_HUMAN
    Recommended name:
    Annexin A7
    Protein Accession:
    P20073
    Secondary Accessions:
    • Q5F2H3
    • Q5T0M6
    • Q5T0M7

    Protein attributes for ANXA7 Gene

    Size:
    488 amino acids
    Molecular mass:
    52739 Da
    Quaternary structure:
    • Interacts with PDCD6.
    SequenceCaution:
    • Sequence=CAI52483.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ANXA7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANXA7 Gene

Post-translational modifications for ANXA7 Gene

  • Ubiquitination at Lys199 and posLast=430430
  • Modification sites at PhosphoSitePlus

Other Protein References for ANXA7 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ANXA7 (ANXA7)

No data available for DME Specific Peptides for ANXA7 Gene

Domains & Families for ANXA7 Gene

Gene Families for ANXA7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ANXA7 Gene

Graphical View of Domain Structure for InterPro Entry

P20073

UniProtKB/Swiss-Prot:

ANXA7_HUMAN :
  • A pair of annexin repeats may form one binding site for calcium and phospholipid.
  • Belongs to the annexin family.
Domain:
  • A pair of annexin repeats may form one binding site for calcium and phospholipid.
Family:
  • Belongs to the annexin family.
genes like me logo Genes that share domains with ANXA7: view

Function for ANXA7 Gene

Molecular function for ANXA7 Gene

GENATLAS Biochemistry:
annexin A7,two forms,47kDa,51kDa,calcium and phospholipid binding protein,synexin,expressed in adrenal medullary cells,skeletal muscle,brain,liver
UniProtKB/Swiss-Prot Function:
Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis.

Phenotypes From GWAS Catalog for ANXA7 Gene

Gene Ontology (GO) - Molecular Function for ANXA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22681889
GO:0005178 integrin binding IPI 24007983
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 9268363
GO:0005544 calcium-dependent phospholipid binding IEA --
genes like me logo Genes that share ontologies with ANXA7: view
genes like me logo Genes that share phenotypes with ANXA7: view

Animal Models for ANXA7 Gene

MGI Knock Outs for ANXA7:

Animal Model Products

CRISPR Products

miRNA for ANXA7 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ANXA7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANXA7 Gene

Localization for ANXA7 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 ANXA7 gene
Compartment Confidence
extracellular 5
nucleus 5
endoplasmic reticulum 5
cytosol 4
plasma membrane 3
lysosome 2
golgi apparatus 2
endosome 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ANXA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10672515
GO:0005635 nuclear envelope IEA --
GO:0005789 endoplasmic reticulum membrane IDA 10672515
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with ANXA7: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ANXA7 Gene

Pathways & Interactions for ANXA7 Gene

genes like me logo Genes that share pathways with ANXA7: view

Pathways by source for ANXA7 Gene

2 Cell Signaling Technology pathways for ANXA7 Gene

Gene Ontology (GO) - Biological Process for ANXA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0006914 autophagy IMP 24007983
GO:0007599 hemostasis IEA --
GO:0008283 cell proliferation IEA --
GO:0008360 regulation of cell shape IEA --
genes like me logo Genes that share ontologies with ANXA7: view

No data available for SIGNOR curated interactions for ANXA7 Gene

Drugs & Compounds for ANXA7 Gene

(3) Drugs for ANXA7 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(3) Additional Compounds for ANXA7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ANXA7: view

Transcripts for ANXA7 Gene

Unigene Clusters for ANXA7 Gene

Annexin A7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ANXA7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ANXA7 Gene

No ASD Table

Relevant External Links for ANXA7 Gene

GeneLoc Exon Structure for
ANXA7
ECgene alternative splicing isoforms for
ANXA7

Expression for ANXA7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANXA7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ANXA7 Gene



Protein tissue co-expression partners for ANXA7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANXA7 Gene:

ANXA7

SOURCE GeneReport for Unigene cluster for ANXA7 Gene:

Hs.631827

mRNA Expression by UniProt/SwissProt for ANXA7 Gene:

P20073-ANXA7_HUMAN
Tissue specificity: Isoform 1 is expressed in brain, heart and skeletal muscle. Isoform 2 is more abundant in liver, lung, kidney, spleen, fibroblasts and placenta.

Evidence on tissue expression from TISSUES for ANXA7 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Pancreas(4.5)
  • Kidney(3.1)
  • Blood(3)
  • Adrenal gland(2.9)
  • Muscle(2.9)
  • Skin(2.9)
  • Heart(2.8)
  • Lung(2.8)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with ANXA7: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANXA7 Gene

Orthologs for ANXA7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ANXA7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANXA7 34 33
  • 99.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANXA7 34 33
  • 91.87 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANXA7 34 33
  • 91.87 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANXA7 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Anxa7 16 34 33
  • 87.01 (n)
rat
(Rattus norvegicus)
Mammalia Anxa7 33
  • 86.71 (n)
oppossum
(Monodelphis domestica)
Mammalia ANXA7 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANXA7 34 33
  • 74.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANXA7 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia anxa7 33
  • 66.67 (n)
Str.805 33
African clawed frog
(Xenopus laevis)
Amphibia LOC397854 33
fruit fly
(Drosophila melanogaster)
Insecta Anxb11 33 35
  • 51.13 (n)
AnnIX 35
  • 50 (a)
AnnX 35
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea nex-2 35 33 34
  • 48.04 (n)
nex-1 35
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU04421 33
  • 43.27 (n)
Species where no ortholog for ANXA7 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • zebrafish (Danio rerio)

Evolution for ANXA7 Gene

ENSEMBL:
Gene Tree for ANXA7 (if available)
TreeFam:
Gene Tree for ANXA7 (if available)

Paralogs for ANXA7 Gene

Paralogs for ANXA7 Gene

(15) SIMAP similar genes for ANXA7 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ANXA7: view

Variants for ANXA7 Gene

Sequence variations from dbSNP and Humsavar for ANXA7 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000062632 -- 73,391,965(+) AATAA(A/C)AAAGG intron-variant
rs1000093329 -- 73,392,149(+) AACCA(C/G)GAAGA intron-variant
rs1000246590 -- 73,399,867(+) CCAGG(C/T)GCAAT intron-variant
rs1000470000 -- 73,405,729(+) TAGAA(C/T)AATGT intron-variant
rs1000500686 -- 73,395,644(+) TGACA(A/G)GTGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANXA7 Gene

Variant ID Type Subtype PubMed ID
nsv1116651 CNV tandem duplication 24896259
nsv831911 CNV loss 17160897

Variation tolerance for ANXA7 Gene

Residual Variation Intolerance Score: 49.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANXA7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANXA7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANXA7 Gene

Disorders for ANXA7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ANXA7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hereditary spherocytosis
  • congenital spherocytic hemolytic anemia
- elite association - COSMIC cancer census association via MalaCards
Search ANXA7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ANXA7

Genetic Association Database (GAD)
ANXA7
Human Genome Epidemiology (HuGE) Navigator
ANXA7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANXA7
genes like me logo Genes that share disorders with ANXA7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANXA7 Gene

Publications for ANXA7 Gene

  1. Divergent structure of the human synexin (annexin VII) gene and assignment to chromosome 10. (PMID: 7515686) Shirvan A … Burns AL (Biochemistry 1994) 2 3 4 22 60
  2. Identification of Alix-type and Non-Alix-type ALG-2-binding sites in human phospholipid scramblase 3: differential binding to an alternatively spliced isoform and amino acid-substituted mutants. (PMID: 18256029) Shibata H … Maki M (The Journal of biological chemistry 2008) 3 4 22 60
  3. Alternative splicing of human synexin mRNA in brain, cardiac, and skeletal muscle alters the unique N-terminal domain. (PMID: 1825209) Magendzo K … Burns AL (The Journal of biological chemistry 1991) 3 4 22 60
  4. Role of multi-hnRNP nuclear complex in regulation of tumor suppressor ANXA7 in prostate cancer cells. (PMID: 20190808) Torosyan Y … Srivastava M (Oncogene 2010) 3 22 60
  5. Monosomy of chromosome 10 associated with dysregulation of epidermal growth factor signaling in glioblastomas. (PMID: 19602687) Yadav AK … Bredel M (JAMA 2009) 3 22 60

Products for ANXA7 Gene

Sources for ANXA7 Gene

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