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    ANXA8 annexin A8 [ Homo sapiens (human) ]

    Gene ID: 653145, updated on 3-Nov-2024

    Summary

    Official Symbol
    ANXA8provided by HGNC
    Official Full Name
    annexin A8provided by HGNC
    Primary source
    HGNC:HGNC:546
    See related
    Ensembl:ENSG00000265190 MIM:602396; AllianceGenome:HGNC:546
    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
    ANX8; CH17-360D5.2
    Summary
    This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Jul 2008]
    Annotation information
    Note: There are multiple copies of ANXA8-like sequences on human chromosome 10q11. In June, 2007, the locations were re-named to correspond to the order defined by the Human Gene Nomenclature Committee (HGNC). [22 Jun 2007]
    Expression
    Biased expression in skin (RPKM 96.8), esophagus (RPKM 57.8) and 3 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ANXA8 in Genome Data Viewer
    Location:
    10q11.22
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (47467993..47991796, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (48359294..48840973, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (48255247..48271369)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107001062 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:48324479-48325678 Neighboring gene uncharacterized LOC124902420 Neighboring gene long intergenic non-protein coding RNA 3029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:47777655-47778618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:48276917-48277572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:47168559-47169492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:48257259-48257771 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:48255153-48256053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:48254252-48255152 Neighboring gene BMS1P2-AGAP9 readthrough Neighboring gene uncharacterized LOC124902421 Neighboring gene family with sequence similarity 25 member G Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3328 Neighboring gene RNA, 5S ribosomal pseudogene 312 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 Neighboring gene BMS1 pseudogene 2 Neighboring gene glutamate dehydrogenase 1 pseudogene 6 Neighboring gene dual specificity phosphatase 8 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2675 Neighboring gene cathepsin L pseudogene 2 Neighboring gene Ras homolog, mTORC1 binding pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:47396067-47396566 Neighboring gene uncharacterized LOC102724603 Neighboring gene RNA, 7SL, cytoplasmic 453, pseudogene Neighboring gene uncharacterized LOC124902422 Neighboring gene shieldin complex subunit 2 pseudogene 3 Neighboring gene uncharacterized LOC102724593 Neighboring gene Sharpr-MPRA regulatory regions 2784 and 8617 duplicate 2 Neighboring gene RHEB pseudogene 2 Neighboring gene synaptotagmin 15B Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:47089387-47089886 Neighboring gene uncharacterized LOC124902423 Neighboring gene neuropeptide Y receptor Y4-2 Neighboring gene Sharpr-MPRA regulatory region 8752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:47136815-47137314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:47769223-47769865 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:49196054-49197004 Neighboring gene NANOG hESC enhancer GRCh37_chr10:49202415-49202942 Neighboring gene family with sequence similarity 25 member C Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 12, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ53095, FLJ58992

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of phospholipase A2 activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in late endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in sarcolemma 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

    Preferred Names
    annexin A8
    Names
    VAC-beta
    annexin VIII
    annexin-8
    vascular anticoagulant-beta

    NCBI Reference Sequences (RefSeq)

    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_001040084.3NP_001035173.1  annexin A8 isoform 2

      See identical proteins and their annotated locations for NP_001035173.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1. An in-frame AUG is located 66 codons upstream of the annotated translation start site but was not annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
      Source sequence(s)
      BC004376, DC339657, DR980366
      Consensus CDS
      CCDS73122.1
      UniProtKB/Swiss-Prot
      A6NDE6, A6NLM1, B4DKI1, B4DTC9, P13928, Q5T2P8, Q5VTM4, Q6GMY3, Q9BT34
      UniProtKB/TrEMBL
      B4DTB3
      Related
      ENSP00000462880.1, ENST00000585281.6
      Conserved Domains (1) summary
      pfam00191
      Location:2690
      Annexin; Annexin
    2. NM_001271702.2NP_001258631.1  annexin A8 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). An in-frame AUG is located 66 codons upstream of the annotated translation start site but was not annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
      Source sequence(s)
      AK300139, AL591684, BC073755, DC339657
      Consensus CDS
      CCDS73123.1
      UniProtKB/TrEMBL
      A0A087WTN9, B4DTB3
      Related
      ENSP00000478026.1, ENST00000611843.4
      Conserved Domains (2) summary
      smart00335
      Location:76128
      ANX; Annexin repeats
      pfam00191
      Location:135200
      Annexin; Annexin
    3. NM_001271703.2NP_001258632.1  annexin A8 isoform 3

      See identical proteins and their annotated locations for NP_001258632.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks exons in the 5' coding region compared to variant 1. It encodes isoform 3, which is shorter when compared to isoform 1. An in-frame AUG is located 66 codons upstream of the annotated translation start site but was not annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
      Source sequence(s)
      AK296573, AL591684, BC073755, DC339657
      Consensus CDS
      CCDS73121.1
      UniProtKB/TrEMBL
      A0A087WUP0
      Related
      ENSP00000463091.1, ENST00000583911.5
      Conserved Domains (2) summary
      pfam00191
      Location:35100
      Annexin; Annexin
      cl02574
      Location:828
      Annexin; Annexin

    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
      47467993..47991796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717951.4XP_006718014.1  annexin A8 isoform X4

      UniProtKB/TrEMBL
      B4DQE1
      Conserved Domains (1) summary
      pfam00191
      Location:50114
      Annexin; Annexin
    2. XM_011540098.1XP_011538400.1  annexin A8 isoform X2

      Conserved Domains (1) summary
      pfam00191
      Location:147211
      Annexin; Annexin
    3. XM_011540096.1XP_011538398.1  annexin A8 isoform X1

      Conserved Domains (1) summary
      pfam00191
      Location:147211
      Annexin; Annexin
    4. XM_011540099.2XP_011538401.1  annexin A8 isoform X3

      Conserved Domains (1) summary
      pfam00191
      Location:147211
      Annexin; Annexin
    5. XM_047425665.1XP_047281621.1  annexin A8 isoform X6

    6. XM_011540101.3XP_011538403.1  annexin A8 isoform X5

      Conserved Domains (1) summary
      pfam00191
      Location:147211
      Annexin; Annexin

    RNA

    1. XR_945805.1 RNA Sequence

    2. XR_002957008.1 RNA Sequence

    3. XR_246202.2 RNA Sequence

    4. XR_945804.1 RNA Sequence

    5. XR_945806.4 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160001.1 Reference GRCh38.p14 PATCHES

      Range
      146660..210356 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443205.1XP_047299161.1  annexin A8 isoform X7

      UniProtKB/TrEMBL
      Q8N8J2

    RNA

    1. XR_007069154.1 RNA Sequence

    2. XR_007069156.1 RNA Sequence

    3. XR_007069153.1 RNA Sequence

    4. XR_007069148.1 RNA Sequence

    5. XR_007069149.1 RNA Sequence

    6. XR_007069150.1 RNA Sequence

    7. XR_007069151.1 RNA Sequence

    8. XR_007069155.1 RNA Sequence

    9. XR_007069147.1 RNA Sequence

    10. XR_007069152.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      48359294..48840973 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366625.1XP_054222600.1  annexin A8 isoform X4

    2. XM_054366623.1XP_054222598.1  annexin A8 isoform X2

    3. XM_054366622.1XP_054222597.1  annexin A8 isoform X1

    4. XM_054366624.1XP_054222599.1  annexin A8 isoform X3

    5. XM_054366627.1XP_054222602.1  annexin A8 isoform X6

    6. XM_054366626.1XP_054222601.1  annexin A8 isoform X5

    RNA

    1. XR_008488257.1 RNA Sequence

    2. XR_008488256.1 RNA Sequence

    3. XR_008488255.1 RNA Sequence

    4. XR_008488253.1 RNA Sequence

    5. XR_008488254.1 RNA Sequence

    6. XR_008488258.1 RNA Sequence