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    ANXA7 annexin A7 [ Homo sapiens (human) ]

    Gene ID: 310, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ANXA7provided by HGNC
    Official Full Name
    annexin A7provided by HGNC
    Primary source
    HGNC:HGNC:545
    See related
    Ensembl:ENSG00000138279 MIM:186360; AllianceGenome:HGNC:545
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SNX; ANX7; SYNEXIN
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 52.9), kidney (RPKM 46.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANXA7 in Genome Data Viewer
    Location:
    10q22.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73375101..73414058, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (74246516..74285473, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75134859..75173816, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 70 Neighboring gene RNA, U6 small nuclear 833, pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 9775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:75117765-75118290 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:75118291-75118816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:75165474-75165974 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:75170289-75170496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3561 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2483 Neighboring gene ribosomal protein L26 pseudogene 6 Neighboring gene MSS51 mitochondrial translational activator

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. AnnexinA7 promotes epithelial-mesenchymal transition by interacting with Sorcin and contributes to aggressiveness in hepatocellular carcinoma. Ling F, et al. Cell Death Dis, 2021 Oct 29. PMID 34716295, Free PMC Article
    2. Knockdown of annexin VII enhances nasopharyngeal carcinoma cell radiosensitivity in vivo and in vitro. Gui SJ, et al. Cancer Biomark, 2020. PMID 31958076
    3. ANXA7 regulates trophoblast proliferation and apoptosis in preeclampsia. Mo HQ, et al. Am J Reprod Immunol, 2019 Dec. PMID 31446642
    4. Annexin A7 is required for ESCRT III-mediated plasma membrane repair. Sønder SL, et al. Sci Rep, 2019 Apr 30. PMID 31040365, Free PMC Article
    5. Tissue microarray analysis delineate potential prognostic role of Annexin A7 in prostate cancer progression. Leighton X, et al. PLoS One, 2018. PMID 30321230, Free PMC Article

    See all (111) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AnnexinA7 promotes epithelial-mesenchymal transition by interacting with Sorcin and contributes to aggressiveness in hepatocellular carcinoma.
      Title: AnnexinA7 promotes epithelial-mesenchymal transition by interacting with Sorcin and contributes to aggressiveness in hepatocellular carcinoma.
    2. ANXA7 promotes the cell cycle, proliferation and cell adhesion-mediated drug resistance of multiple myeloma cells by up-regulating CDC5L.
      Title: ANXA7 promotes the cell cycle, proliferation and cell adhesion-mediated drug resistance of multiple myeloma cells by up-regulating CDC5L.
    3. Knockdown of annexin VII enhances nasopharyngeal carcinoma cell radiosensitivity in vivo and in vitro.
      Title: Knockdown of annexin VII enhances nasopharyngeal carcinoma cell radiosensitivity in vivo and in vitro.
    4. Annexin A7 is required for ESCRT III-mediated plasma membrane repair.
      Title: Annexin A7 is required for ESCRT III-mediated plasma membrane repair.
    5. ANXA7 regulates trophoblast proliferation and apoptosis in preeclampsia.
      Title: ANXA7 regulates trophoblast proliferation and apoptosis in preeclampsia.
    6. ANXA7 was downregulated in breast cancer cells and higher expression of ANXA7 was associated with better prognosis of breast cancer patients.
      Title: Annexin A7 is correlated with better clinical outcomes of patients with breast cancer.
    7. Annexin A7 has a prognostic role in prostate cancer progression
      Title: Tissue microarray analysis delineate potential prognostic role of Annexin A7 in prostate cancer progression.
    8. Meanwhile, the key biomarkers of cell metastasis E-cadherin expression increased while MMP-9 decreased.we found that ANXA7 played its role via MAPK/ERK pathway. ANXA7 might involve in the development of hepatocellular carcinoma and act as an oncogene which might be a potential therapeutic target for treatment.
      Title: AnnexinA7 down-regulation might suppress the proliferation and metastasis of human hepatocellular carcinoma cells via MAPK/ ERK pathway.
    9. Overexpression of ANXA7 enhances eucalyptol cytotoxicity in prostate cancer cell lines
      Title: High ANXA7 Potentiates Eucalyptol Toxicity in Hormone-refractory Prostate Cancer.
    10. Up-regulation of ANXA7-GTPase tumor suppressor reverses tumorigenesis. (Review)
      Title: ANXA7-GTPase as Tumor Suppressor: Mechanisms and Therapeutic Opportunities.
    Submit: New GeneRIF Correction See all GeneRIFs (36)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium-dependent phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables phosphatidylserine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with chromaffin granule membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    annexin A7
    Names
    annexin VII
    annexin-7

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001156.5 → NP_001147.1  annexin A7 isoform 1

      See identical proteins and their annotated locations for NP_001147.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon, compared to variant 2, resulting in a shorter protein (isoform 1) that lacks an internal segment, compared to isoform 2.
      Source sequence(s)
      AL512656, BQ017137, HY002854, J04543
      Consensus CDS
      CCDS7325.1
      UniProtKB/TrEMBL
      B2R7L2
      Related
      ENSP00000362012.4, ENST00000372921.10
      Conserved Domains (2) summary
      pfam00191
      Location:167 → 232
      Annexin; Annexin
      pfam14944
      Location:78 → 165
      TCRP1; Tongue Cancer Chemotherapy Resistant Protein 1

    2. NM_001320879.2 → NP_001307808.1  annexin A7 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region including an alternate in-frame exon, and initiates translation at a downstream start site compared to variant 2. The encoded isoform (4) is shorter than isoform 2.
      Source sequence(s)
      AL512656, BQ017137, BQ689410, BX361177, HY002854
      UniProtKB/TrEMBL
      B2R7L2
      Conserved Domains (2) summary
      pfam00191
      Location:127 → 192
      Annexin; Annexin
      pfam04959
      Location:37 → 106
      ARS2; Arsenite-resistance protein 2

    3. NM_001320880.2 → NP_001307809.1  annexin A7 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start site compared to variant 2. The encoded isoform (3) has a shorter N-terminus than isoform 2.
      Source sequence(s)
      AL512656, BQ017137, BQ689410, BX361177, DA131184
      UniProtKB/TrEMBL
      B2R657
      Conserved Domains (2) summary
      pfam00191
      Location:149 → 214
      Annexin; Annexin
      pfam04959
      Location:37 → 103
      ARS2; Arsenite-resistance protein 2

    4. NM_004034.4 → NP_004025.1  annexin A7 isoform 2

      See identical proteins and their annotated locations for NP_004025.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AK312447, AL512656, BQ017137
      Consensus CDS
      CCDS7326.1
      UniProtKB/Swiss-Prot
      P20073, Q5F2H3, Q5T0M6, Q5T0M7
      UniProtKB/TrEMBL
      B2R657
      Related
      ENSP00000362010.4, ENST00000372919.8
      Conserved Domains (2) summary
      pfam00191
      Location:189 → 254
      Annexin; Annexin
      pfam04959
      Location:77 → 143
      ARS2; Arsenite-resistance protein 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      73375101..73414058 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016162.3 → XP_016871651.1  annexin A7 isoform X1

      UniProtKB/Swiss-Prot
      P20073, Q5F2H3, Q5T0M6, Q5T0M7
      UniProtKB/TrEMBL
      B2R657
      Conserved Domains (2) summary
      pfam00191
      Location:189 → 254
      Annexin; Annexin
      pfam04959
      Location:77 → 143
      ARS2; Arsenite-resistance protein 2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      74246516..74285473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P20073.3 GenPept UniProtKB/Swiss-Prot:P20073

    Gene LinkOut

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