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ANXA7 annexin A7 [ Homo sapiens (human) ]

Gene ID: 310, updated on 2-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73375101..73414058, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (74246516..74285473, complement)
RS_2024_09 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 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. High ANXA7 Potentiates Eucalyptol Toxicity in Hormone-refractory Prostate Cancer. Leighton X, et al. Anticancer Res, 2018 Jul. PMID 29970503
  2. Optimization of oligonucleotide arrays and RNA amplification protocols for analysis of transcript structure and alternative splicing. Castle J, et al. Genome Biol, 2003. PMID 14519201, Free PMC Article
  3. Characterization of red cell membrane proteins as a function of red cell density: annexin VII in different forms of hereditary spherocytosis. Caterino M, et al. FEBS Lett, 2006 Dec 11. PMID 17112522
  4. The significance of ANXA7 expression and its correlation with poor cellular differentiation and enhanced metastatic potential of gastric cancer. Hsu PI, et al. J Surg Oncol, 2008 Jun 1. PMID 18449914
  5. Role of multi-hnRNP nuclear complex in regulation of tumor suppressor ANXA7 in prostate cancer cells. Torosyan Y, et al. Oncogene, 2010 Apr 29. PMID 20190808

See all (119) 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)

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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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_2024_08

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

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