Human Gene ANXA7 (uc001jtz.2) Description and Page Index
  Description: Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.
RefSeq Summary (NM_004034): 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].
Transcript (Including UTRs)
   Position: hg19 chr10:75,135,189-75,173,841 Size: 38,653 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr10:75,135,853-75,160,614 Size: 24,762 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr10:75,135,189-75,173,841)mRNA (may differ from genome)Protein (488 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Annexin A7; AltName: Full=Annexin VII; AltName: Full=Annexin-7; AltName: Full=Synexin;
FUNCTION: Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis.
SUBUNIT: Interacts with PDCD6.
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.
DOMAIN: A pair of annexin repeats may form one binding site for calcium and phospholipid.
SIMILARITY: Belongs to the annexin family.
SIMILARITY: Contains 4 annexin repeats.
SEQUENCE CAUTION: Sequence=CAI52483.1; Type=Erroneous gene model prediction;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ANXA7
CDC HuGE Published Literature: ANXA7

-  MalaCards Disease Associations
  MalaCards Gene Search: ANXA7
Diseases sorted by gene-association score: hereditary spherocytosis (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 61.20 RPKM in Artery - Tibial
Total median expression: 2062.40 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.9073-0.464 Picture PostScript Text
3' UTR -132.79664-0.200 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001464 - Annexin
IPR018502 - Annexin_repeat
IPR018252 - Annexin_repeat_CS
IPR013286 - AnnexinVII

Pfam Domains:
PF00191 - Annexin

SCOP Domains:
47874 - Annexin

ModBase Predicted Comparative 3D Structure on P20073
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005178 integrin binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005544 calcium-dependent phospholipid binding
GO:0048306 calcium-dependent protein binding

Biological Process:
GO:0006874 cellular calcium ion homeostasis
GO:0006914 autophagy
GO:0007599 hemostasis
GO:0008283 cell proliferation
GO:0008360 regulation of cell shape
GO:0009651 response to salt stress
GO:0009992 cellular water homeostasis
GO:0010629 negative regulation of gene expression
GO:0014070 response to organic cyclic compound
GO:0030855 epithelial cell differentiation
GO:0035176 social behavior
GO:0051592 response to calcium ion
GO:0061025 membrane fusion

Cellular Component:
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031982 vesicle
GO:0070062 extracellular exosome
GO:0042584 chromaffin granule membrane

-  Descriptions from all associated GenBank mRNAs
  KJ890678 - Synthetic construct Homo sapiens clone ccsbBroadEn_00072 ANXA7 gene, encodes complete protein.
BC001322 - Homo sapiens annexin A7, mRNA (cDNA clone IMAGE:3456231).
M64272 - Human synexin mRNA, 3' end.
AK295319 - Homo sapiens cDNA FLJ55060 complete cds, highly similar to Annexin A7.
JD399481 - Sequence 380505 from Patent EP1572962.
JD344507 - Sequence 325531 from Patent EP1572962.
JD551561 - Sequence 532585 from Patent EP1572962.
AB062429 - Homo sapiens OK/SW-cl.95 mRNA for annexin A7, complete cds.
BC002632 - Homo sapiens annexin A7, mRNA (cDNA clone MGC:3917 IMAGE:3610541), complete cds.
AK222552 - Homo sapiens mRNA for annexin VII isoform 1 variant, clone: adSU01794.
J04543 - Human synexin mRNA, complete cds.
JD309169 - Sequence 290193 from Patent EP1572962.
JD295229 - Sequence 276253 from Patent EP1572962.
JD515437 - Sequence 496461 from Patent EP1572962.
JD467848 - Sequence 448872 from Patent EP1572962.
AK301681 - Homo sapiens cDNA FLJ54191 complete cds, highly similar to Annexin A7.
AK300086 - Homo sapiens cDNA FLJ54149 complete cds, highly similar to Annexin A7.
BT007187 - Homo sapiens annexin A7 mRNA, complete cds.
AK313024 - Homo sapiens cDNA, FLJ93494, highly similar to Homo sapiens annexin A7 (ANXA7), transcript variant 1, mRNA.
AK312447 - Homo sapiens cDNA, FLJ92798, highly similar to Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.
CR407686 - Homo sapiens full open reading frame cDNA clone RZPDo834D093D for gene ANXA7, annexin A7 complete cds, without stopcodon.
AK309141 - Homo sapiens cDNA, FLJ99182.
AK307772 - Homo sapiens cDNA, FLJ97720.
CU678074 - Synthetic construct Homo sapiens gateway clone IMAGE:100019531 5' read ANXA7 mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: ANX7, ANXA7_HUMAN, NM_004034, NP_004025, OK/SW-cl.95, P20073, Q5F2H3, Q5T0M6, Q5T0M7, SNX
UCSC ID: uc001jtz.2
RefSeq Accession: NM_004034
Protein: P20073 (aka ANXA7_HUMAN or ANX7_HUMAN)
CCDS: CCDS7325.1, CCDS7326.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_004034.2
exon count: 14CDS single in 3' UTR: no RNA size: 2212
ORF size: 1467CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3134.00frame shift in genome: no % Coverage: 99.64
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.