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2024-03-29 16:52:14, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001630               2053 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens annexin A8-like 2 (ANXA8L2), mRNA.
ACCESSION   NM_001630 XM_001128973 XR_110466
VERSION     NM_001630.2  GI:91807121
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2053)
  AUTHORS   Karanjawala,Z.E., Illei,P.B., Ashfaq,R., Infante,J.R., Murphy,K.,
            Pandey,A., Schulick,R., Winter,J., Sharma,R., Maitra,A., Goggins,M.
            and Hruban,R.H.
  TITLE     New markers of pancreatic cancer identified through differential
            gene expression analyses: claudin 18 and annexin A8
  JOURNAL   Am. J. Surg. Pathol. 32 (2), 188-196 (2008)
   PUBMED   18223320
  REMARK    GeneRIF: Claudin 18 and annexin A8 are frequently highly
            overexpressed in infiltrating ductal adenocarcinomas.
REFERENCE   2  (bases 1 to 2053)
  AUTHORS   Gerke,V., Creutz,C.E. and Moss,S.E.
  TITLE     Annexins: linking Ca2+ signalling to membrane dynamics
  JOURNAL   Nat. Rev. Mol. Cell Biol. 6 (6), 449-461 (2005)
   PUBMED   15928709
  REMARK    Review article
REFERENCE   3  (bases 1 to 2053)
  AUTHORS   Gerke,V. and Moss,S.E.
  TITLE     Annexins: from structure to function
  JOURNAL   Physiol. Rev. 82 (2), 331-371 (2002)
   PUBMED   11917092
  REMARK    Review article
REFERENCE   4  (bases 1 to 2053)
  AUTHORS   Reutelingsperger,C.P., van Heerde,W., Hauptmann,R., Maassen,C., van
            Gool,R.G., de Leeuw,P. and Tiebosch,A.
  TITLE     Differential tissue expression of Annexin VIII in human
  JOURNAL   FEBS Lett. 349 (1), 120-124 (1994)
   PUBMED   8045287
REFERENCE   5  (bases 1 to 2053)
  AUTHORS   Sarkar,A., Yang,P., Fan,Y.H., Mu,Z.M., Hauptmann,R., Adolf,G.R.,
            Stass,S.A. and Chang,K.S.
  TITLE     Regulation of the expression of annexin VIII in acute promyelocytic
            leukemia
  JOURNAL   Blood 84 (1), 279-286 (1994)
   PUBMED   8018923
REFERENCE   6  (bases 1 to 2053)
  AUTHORS   Chambers,J.A., Gardner,E., Hauptmann,R., Ponder,B.A. and
            Mulligan,L.M.
  TITLE     TaqI polymorphisms at the annexin VIII locus (ANX8)
  JOURNAL   Hum. Mol. Genet. 1 (7), 550 (1992)
   PUBMED   1364010
REFERENCE   7  (bases 1 to 2053)
  AUTHORS   Hauptmann,R., Maurer-Fogy,I., Krystek,E., Bodo,G., Andree,H. and
            Reutelingsperger,C.P.
  TITLE     Vascular anticoagulant beta: a novel human Ca2+/phospholipid
            binding protein that inhibits coagulation and phospholipase A2
            activity. Its molecular cloning, expression and comparison with
            VAC-alpha
  JOURNAL   Eur. J. Biochem. 185 (1), 63-71 (1989)
   PUBMED   2530088
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA698972.1, X16662.1,
            AL603965.10 and BC008813.2.
            On or before Apr 8, 2011 this sequence version replaced
            gi:310124568, gi:310124587, gi:4502112.
            
            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].
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns ERS025084,
                              ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                DA698972.1         54-140
            88-467              X16662.1           2-381
            468-513             AL603965.10        66241-66286
            514-604             AL603965.10        67050-67140
            605-684             AL603965.10        67800-67879
            685-744             AL603965.10        68368-68427
            745-838             AL603965.10        68974-69067
            839-934             AL603965.10        69307-69402
            935-993             AL603965.10        71181-71239
            994-1116            AL603965.10        71985-72107
            1117-1989           AL603965.10        74463-75335
            1990-2053           BC008813.2         1821-1884
FEATURES             Location/Qualifiers
     source          1..2053
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     gene            1..2053
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /note="annexin A8-like 2"
                     /db_xref="GeneID:244"
                     /db_xref="HGNC:23335"
     exon            1..213
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /inference="alignment:Splign:1.39.8"
     variation       59
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:138970875"
     variation       125
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373237589"
     variation       164
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200231986"
     variation       173
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202192438"
     variation       180
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374033985"
     variation       181
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377110649"
     variation       183
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370212312"
     CDS             193..1176
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /note="annexin A8L2"
                     /codon_start=1
                     /product="annexin A8-like protein 2"
                     /protein_id="NP_001621.2"
                     /db_xref="GI:91807122"
                     /db_xref="CCDS:CCDS7216.1"
                     /db_xref="GeneID:244"
                     /db_xref="HGNC:23335"
                     /translation="
MAWWKAWIEQEGVTVKSSSHFNPDPDAETLYKAMKGIGTNEQAIIDVLTKRSNTQRQQIAKSFKAQFGKDLTETLKSELSGKFERLIVALMYPPYRYEAKELHDAMKGLGTKEGVIIEILASRTKNQLREIMKAYEEDYGSSLEEDIQADTSGYLERILVCLLQGSRDDVSSFVDPALALQDAQDLYAAGENIRGTDEMKFITILCTRSATHLLRVFEEYEKIANKSIEDSIKSETHGSLEEAMLTVVKCTQNLHSYFAERLYYAMKGAGTRDGTLIRNIVSRSEIDLNLIKCHFKKMYGKTLSSMIMEDTSGDYKNALLSLVGSDP
"
     misc_feature    265..462
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VT79.1);
                     Region: Annexin 1"
     misc_feature    268..462
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /note="Annexin; Region: Annexin; pfam00191"
                     /db_xref="CDD:201070"
     misc_feature    481..678
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /note="Annexin; Region: Annexin; pfam00191"
                     /db_xref="CDD:201070"
     misc_feature    481..678
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VT79.1);
                     Region: Annexin 2"
     misc_feature    733..933
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VT79.1);
                     Region: Annexin 3"
     misc_feature    775..933
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /note="Annexin repeats; Region: ANX; smart00335"
                     /db_xref="CDD:197661"
     misc_feature    961..1158
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /note="Annexin; Region: Annexin; pfam00191"
                     /db_xref="CDD:201070"
     misc_feature    961..1158
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VT79.1);
                     Region: Annexin 4"
     exon            214..304
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /inference="alignment:Splign:1.39.8"
     variation       286
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:2670516"
     exon            305..399
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /inference="alignment:Splign:1.39.8"
     variation       339
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2271516"
     exon            400..513
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /inference="alignment:Splign:1.39.8"
     variation       468
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2271517"
     exon            514..604
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /inference="alignment:Splign:1.39.8"
     variation       542
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:75086646"
     variation       570
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149943195"
     variation       593
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2271519"
     variation       593
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200976247"
     exon            605..684
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /inference="alignment:Splign:1.39.8"
     exon            685..744
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /inference="alignment:Splign:1.39.8"
     variation       688
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144726888"
     variation       690
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:139931538"
     variation       692
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145448356"
     variation       706
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:147659536"
     variation       717
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77623921"
     variation       718
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:142447427"
     variation       719
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151338701"
     variation       720
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2942949"
     variation       722
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:75345346"
     variation       722
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3013886"
     variation       729
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375281576"
     variation       738
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150445437"
     variation       739
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138417320"
     exon            745..838
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /inference="alignment:Splign:1.39.8"
     variation       754
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374712956"
     variation       759
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:369933973"
     variation       768
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:977788"
     variation       768
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:202221168"
     variation       773
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373508737"
     variation       812
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376366484"
     variation       813
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369623324"
     exon            839..934
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /inference="alignment:Splign:1.39.8"
     exon            935..993
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /inference="alignment:Splign:1.39.8"
     variation       978
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:4922529"
     variation       978
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200846894"
     exon            994..1116
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /inference="alignment:Splign:1.39.8"
     exon            1117..2030
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1131
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2801067"
     STS             1189..1531
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /standard_name="SHGC-12720"
                     /db_xref="UniSTS:23001"
     variation       1277
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:112174058"
     variation       1283
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2670521"
     variation       1694
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:6776"
     variation       1880
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:8979"
     variation       1979..1980
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11559194"
     variation       1980
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:10663"
     polyA_signal    2006..2011
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
     polyA_site      2024
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
     polyA_site      2030
                     /gene="ANXA8L2"
                     /gene_synonym="ANXA8; bA145E20.2"
ORIGIN      
aaagccaggcagagcccgggggcgagggggcggcaggcaggtgtagcgctgccctgggcgggcttgcacccccacacccaagtgagcggcctgctcactcctcagctgcaggagccagacgtgtggagtcccagcagaggccaacctgtgtctcttcatctccgtgagaaaggtgcccccgaagtgaaagagatggcctggtggaaagcctggattgaacaggagggtgtcacagtgaagagcagctcccacttcaacccagaccctgatgcagagaccctctacaaagccatgaaggggatcgggaccaacgagcaggctatcatcgatgtgctcaccaagagaagcaacacgcagcggcagcagatcgccaagtccttcaaggctcagttcggcaaggacctcactgagaccttgaagtctgagctcagtggcaagtttgagaggctcattgtggcccttatgtacccgccatacagatacgaagccaaggagctgcatgacgccatgaagggcttaggaaccaaggagggtgtcatcattgagatcctggcctctcggaccaagaaccagctgcgggagataatgaaggcgtatgaggaagactatgggtccagcctggaggaggacatccaagcagacacaagtggctacctggagaggatcctggtgtgcctcctgcagggcagcagggatgatgtgagcagctttgtggacccggcactggccctccaagacgcacaggatctgtatgcggcaggcgagaatattcgtgggactgatgagatgaaattcatcaccatcctgtgcacgcgcagtgccactcacctgctgagagtgtttgaagagtatgagaaaattgccaacaagagcattgaggacagcatcaagagtgagacccatggctcactggaggaggccatgctcactgtggtgaaatgcacccaaaacctccacagctactttgcagagagactctactatgccatgaagggagcagggacgcgtgatgggaccctgataagaaacatcgtttcaaggagcgagattgacttaaatcttatcaaatgtcacttcaagaagatgtacggcaagaccctcagcagcatgatcatggaagacaccagcggtgactacaagaacgccctgctgagcctggtgggcagcgacccctgaggcacagaagaacaagagcaaagaccatgaagccagagtctccaggactcctcactcaacctcggccatggacgcaggttgggtgtgaggggggtcccagcctttcggtcttctatttccctatttccagtgctttccagccgggtttctgacccagagggtggaaccggcctggactcctcttcccaacttcctccaggtcatttcccagtgtgagcacaatgccaaccttagtgtttctccagccagacagatgcctcagcatgaagggcttggggacttgtggatcattccttcctccctgcaggagcttcccaagctggtcacagagtctcctgggcacaggttatacagaccccagccccattcccatctactgaaacagggtctccacaagaggggccagggaatatgggtttttaacaagcgtcttacaaaacacttctctatcatgcagccggagagctggctgggagcccttttgttttagaacacacatccttcagcagctgagaaacgaacacgaatccatcccaaccgagatgccattaacattcatctaaaaatgttaggctctaaatggacgaaaaattctctcgccatcttaataacaaaataaactacaaattcctgacccaaggacactgtgttataagaggcgtgggctcccctggtggctgaccaggtcagctgccctggccttgcacccctctgcatgcagcacagaagggtgtgaccatgccctcagcaccactcttgtccccactgaacggcaactgagactgggtacctggagattctgaagtgcctttgctgtggttttcaaaataataaagatttgtattcaactcaaaaaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:244 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA
            GeneID:244 -> Molecular function: GO:0005544 [calcium-dependent phospholipid binding] evidence: IEA

by @meso_cacase at DBCLS
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