Name | annexin A7 |
Symbol | ANXA7 |
Aliases | SNX; ANX7; synexin; annexin VII (synexin) |
Gene Product | - annexin VII isoform 2
- annexin VII isoform 1
|
Category | - Gross deletion in Prostate cancer
|
UniGene | Hs.78637 |
OMIM | 186360 |
Locus | 310 |
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. The selection of poly(A) signals is independent of the mRNA splicing pattern. ~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. |
Gene Ontology | |
Expression | EST (392 ESTs, 193 libraries) |
Tissue ? |
Frequency ? |
Count ? |
adrenal gland (2/15) | | 4/17521 |
b cells (1/1) | | 1/16734 |
blood (1/27) | | 1/40686 |
bone (1/13) | | 1/26211 |
bone marrow (4/263) | | 15/38555 |
brain (18/204) | | 51/362011 |
cervix (2/7) | | 2/28115 |
colon (9/853) | | 15/165626 |
connective tissue (1/1) | | 1/1301 |
ear (1/2) | | 2/12660 |
eye (4/33) | | 4/93836 |
foreskin (1/4) | | 1/20040 |
germ cell (1/7) | | 2/57383 |
head and neck (11/990) | | 19/79796 |
heart (3/22) | | 3/55494 |
kidney (7/86) | | 10/132968 |
liver (4/38) | | 6/46472 |
lung (13/312) | | 24/245386 |
muscle (2/21) | | 4/71297 |
nervous (1/475) | | 1/43438 |
oral cavity (2/18) | | 4/44567 |
ovary (1/144) | | 1/81880 |
pancreas (7/33) | | 28/117255 |
parathyroid (1/4) | | 9/19377 |
placenta (6/342) | | 7/157762 |
prostate (11/291) | | 20/109871 |
skin (6/31) | | 15/100815 |
stomach (6/312) | | 10/129930 |
t cells (1/2) | | 2/4729 |
testis (6/171) | | 18/117531 |
thyroid (2/24) | | 2/6853 |
umbilical cord (1/3) | | 2/6185 |
uncharacterized tissue (45/1773) | | 76/713325 |
uterus (11/212) | | 31/155110 |
|
SAGE (26292399 tags, 489 libraries) |
Tissue ? |
Frequency ? |
Count ? |
blood (1/1) | | 8/194092 |
brain (19/19) | | 152/5375753 |
cerebellum (1/1) | | 6/205120 |
colon (8/8) | | 110/2224438 |
eye (6/6) | | 56/2546477 |
foreskin (1/2) | | 1/9497 |
heart (1/1) | | 20/421785 |
kidney (1/2) | | 8/167428 |
liver (1/1) | | 13/468027 |
lung (1/1) | | 18/445715 |
mammary gland (19/19) | | 122/3409511 |
muscle (2/2) | | 23/592493 |
ovary (8/10) | | 52/1082712 |
pancreas (8/8) | | 46/1055633 |
prostate (13/13) | | 119/2434427 |
skin (4/7) | | 7/79749 |
stomach (3/3) | | 35/973931 |
uncharacterized tissue (20/22) | | 129/3619277 |
vascular (3/3) | | 34/986334 |
|
|
SNP | rs1050586 (A/C:mrna-utr);  rs6896 (T/C:mrna-utr);  rs2234893 (G/-:coding-nonsyn);  rs2274876 (C/T:coding-nonsyn);  rs2234964 (C/T:coding-nonsyn);  rs14858 (C/T:mrna-utr);   |
Evidence | Gross deletion in Prostate cancer
|