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2024-04-20 02:27:02, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001256166 2408 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens baculoviral IAP repeat containing 2 (BIRC2),
transcript variant 3, mRNA.
ACCESSION NM_001256166
VERSION NM_001256166.1 GI:390608638
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 2408)
AUTHORS Melanson,B.D., Cabrita,M.A., Bose,R., Hamill,J.D., Pan,E.,
Brochu,C., Marcellus,K.A., Zhao,T.T., Holcik,M. and McKay,B.C.
TITLE A novel cis-acting element from the 3'UTR of DNA damage-binding
protein 2 mRNA links transcriptional and post-transcriptional
regulation of gene expression
JOURNAL Nucleic Acids Res. 41 (11), 5692-5703 (2013)
PUBMED 23605047
REMARK GeneRIF: The 3'untranslated region of BIRC2 contains a cis-acting
element that decreases stability of the message but increase
protein expression
REFERENCE 2 (bases 1 to 2408)
AUTHORS Goncharov,T., Niessen,K., de Almagro,M.C., Izrael-Tomasevic,A.,
Fedorova,A.V., Varfolomeev,E., Arnott,D., Deshayes,K.,
Kirkpatrick,D.S. and Vucic,D.
TITLE OTUB1 modulates c-IAP1 stability to regulate signalling pathways
JOURNAL EMBO J. 32 (8), 1103-1114 (2013)
PUBMED 23524849
REMARK GeneRIF: These results suggest that OTUB1 regulates NF-kappaB and
MAPK signalling pathways and TNF-dependent cell death by modulating
c-IAP1 stability.
REFERENCE 3 (bases 1 to 2408)
AUTHORS Tigno-Aranjuez,J.T., Bai,X. and Abbott,D.W.
TITLE A discrete ubiquitin-mediated network regulates the strength of
NOD2 signaling
JOURNAL Mol. Cell. Biol. 33 (1), 146-158 (2013)
PUBMED 23109427
REMARK GeneRIF: a molecular mechanism for cIAP1's regulation in the NOD2
signaling pathway
REFERENCE 4 (bases 1 to 2408)
AUTHORS Basit,F., Humphreys,R. and Fulda,S.
TITLE RIP1 protein-dependent assembly of a cytosolic cell death complex
is required for inhibitor of apoptosis (IAP) inhibitor-mediated
sensitization to lexatumumab-induced apoptosis
JOURNAL J. Biol. Chem. 287 (46), 38767-38777 (2012)
PUBMED 22927431
REMARK GeneRIF: IAP inhibitors and lexatumumab synergistically trigger
apoptosis in a RIP1-dependent but TNFalpha-independent manner in
RMS cells
REFERENCE 5 (bases 1 to 2408)
AUTHORS Xu,W., Liu,L. and Hornby,D.
TITLE c-IAP1 binds and processes PCSK9 protein: linking the c-IAP1 in a
TNF-alpha pathway to PCSK9-mediated LDLR degradation pathway
JOURNAL Molecules 17 (10), 12086-12101 (2012)
PUBMED 23085658
REMARK GeneRIF: c-IAP1 acts on both secretion of PCSK9 and its lysosomal
localization. The novel pathway described here will open new
avenues for exploring novel disease treatments.
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 2408)
AUTHORS Shu,H.B., Takeuchi,M. and Goeddel,D.V.
TITLE The tumor necrosis factor receptor 2 signal transducers TRAF2 and
c-IAP1 are components of the tumor necrosis factor receptor 1
signaling complex
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 93 (24), 13973-13978 (1996)
PUBMED 8943045
REFERENCE 7 (bases 1 to 2408)
AUTHORS Rajcan-Separovic,E., Liston,P., Lefebvre,C. and Korneluk,R.G.
TITLE Assignment of human inhibitor of apoptosis protein (IAP) genes
xiap, hiap-1, and hiap-2 to chromosomes Xq25 and 11q22-q23 by
fluorescence in situ hybridization
JOURNAL Genomics 37 (3), 404-406 (1996)
PUBMED 8938457
REFERENCE 8 (bases 1 to 2408)
AUTHORS Uren,A.G., Pakusch,M., Hawkins,C.J., Puls,K.L. and Vaux,D.L.
TITLE Cloning and expression of apoptosis inhibitory protein homologs
that function to inhibit apoptosis and/or bind tumor necrosis
factor receptor-associated factors
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 93 (10), 4974-4978 (1996)
PUBMED 8643514
REFERENCE 9 (bases 1 to 2408)
AUTHORS Liston,P., Roy,N., Tamai,K., Lefebvre,C., Baird,S.,
Cherton-Horvat,G., Farahani,R., McLean,M., Ikeda,J.E., MacKenzie,A.
and Korneluk,R.G.
TITLE Suppression of apoptosis in mammalian cells by NAIP and a related
family of IAP genes
JOURNAL Nature 379 (6563), 349-353 (1996)
PUBMED 8552191
REFERENCE 10 (bases 1 to 2408)
AUTHORS Rothe,M., Pan,M.G., Henzel,W.J., Ayres,T.M. and Goeddel,D.V.
TITLE The TNFR2-TRAF signaling complex contains two novel proteins
related to baculoviral inhibitor of apoptosis proteins
JOURNAL Cell 83 (7), 1243-1252 (1995)
PUBMED 8548810
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA115985.1, AK303197.1 and
BC028578.1.
Summary: The protein encoded by this gene is a member of a family
of proteins that inhibits apoptosis by binding to tumor necrosis
factor receptor-associated factors TRAF1 and TRAF2, probably by
interfering with activation of ICE-like proteases. This encoded
protein inhibits apoptosis induced by serum deprivation and
menadione, a potent inducer of free radicals. Alternatively spliced
transcript variants encoding different isoforms have been found for
this gene. [provided by RefSeq, Jan 2012].
Transcript Variant: This variant (3) has an alternate splice site
in the 5' region, which results in a downstream AUG start codon,
compared to variant 1. The resulting isoform (2) is shorter at the
N-terminus, compared to isoform 1.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK303197.1 [ECO:0000332]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-95 DA115985.1 1-95
96-1959 AK303197.1 64-1927
1960-2408 BC028578.1 3641-4089
FEATURES Location/Qualifiers
source 1..2408
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q22"
gene 1..2408
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="baculoviral IAP repeat containing 2"
/db_xref="GeneID:329"
/db_xref="HGNC:590"
/db_xref="MIM:601712"
exon 1..195
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/inference="alignment:Splign:1.39.8"
variation 46
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="g"
/db_xref="dbSNP:369402637"
variation 77
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:71478568"
variation 95
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="g"
/db_xref="dbSNP:34115368"
misc_feature 128..130
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="upstream in-frame stop codon"
variation 163
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:138116133"
exon 196..944
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/inference="alignment:Splign:1.39.8"
CDS 197..1906
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="isoform 2 is encoded by transcript variant 3;
NFR2-TRAF signalling complex protein; apoptosis inhibitor
1; baculoviral IAP repeat-containing 2; baculoviral IAP
repeat-containing protein 2; IAP-2; IAP homolog B; RING
finger protein 48; inhibitor of apoptosis protein 2;
TNFR2-TRAF-signaling complex protein 2"
/codon_start=1
/product="baculoviral IAP repeat-containing protein 2
isoform 2"
/protein_id="NP_001243095.1"
/db_xref="GI:390608639"
/db_xref="CCDS:CCDS58169.1"
/db_xref="GeneID:329"
/db_xref="HGNC:590"
/db_xref="MIM:601712"
/translation="
MSTYSTFPAGVPVSERSLARAGFYYTGVNDKVKCFCCGLMLDNWKLGDSPIQKHKQLYPSCSFIQNLVSASLGSTSKNTSPMRNSFAHSLSPTLEHSSLFSGSYSSLSPNPLNSRAVEDISSSRTNPYSYAMSTEEARFLTYHMWPLTFLSPSELARAGFYYIGPGDRVACFACGGKLSNWEPKDDAMSEHRRHFPNCPFLENSLETLRFSISNLSMQTHAARMRTFMYWPSSVPVQPEQLASAGFYYVGRNDDVKCFCCDGGLRCWESGDDPWVEHAKWFPRCEFLIRMKGQEFVDEIQGRYPHLLEQLLSTSDTTGEENADPPIIHFGPGESSSEDAVMMNTPVVKSALEMGFNRDLVKQTVQSKILTTGENYKTVNDIVSALLNAEDEKREEEKEKQAEEMASDDLSLIRKNRMALFQQLTCVLPILDNLLKANVINKQEHDIIKQKTQIPLQARELIDTILVKGNAAANIFKNCLKEIDSTLYKNLFVDKNMKYIPTEDVSGLSLEEQLRRLQEERTCKVCMDKEVSVVFIPCGHLVVCQECAPSLRKCPICRGIIKGTVRTFLS
"
misc_feature 197..394
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="Baculoviral inhibition of apoptosis protein repeat
domain; Found in inhibitors of apoptosis proteins (IAPs)
and other proteins. In higher eukaryotes, BIR domains
inhibit apoptosis by acting as direct inhibitors of the
caspase family of protease enzymes; Region: BIR; cd00022"
/db_xref="CDD:28906"
misc_feature order(272..274,287..289,293..295,314..322,326..328,
338..340,353..355,365..370)
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="peptide binding groove; other site"
/db_xref="CDD:28906"
misc_feature order(296..298,305..307,356..358,377..379)
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="Zn2+ binding site [ion binding]; other site"
/db_xref="CDD:28906"
misc_feature 602..805
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="Baculoviral inhibition of apoptosis protein repeat
domain; Found in inhibitors of apoptosis proteins (IAPs)
and other proteins. In higher eukaryotes, BIR domains
inhibit apoptosis by acting as direct inhibitors of the
caspase family of protease enzymes; Region: BIR; cd00022"
/db_xref="CDD:28906"
misc_feature order(683..685,698..700,704..706,725..733,737..739,
749..751,764..766,776..781)
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="peptide binding groove; other site"
/db_xref="CDD:28906"
misc_feature order(707..709,716..718,767..769,788..790)
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="Zn2+ binding site [ion binding]; other site"
/db_xref="CDD:28906"
misc_feature 857..1057
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="Baculoviral inhibition of apoptosis protein repeat
domain; Found in inhibitors of apoptosis proteins (IAPs)
and other proteins. In higher eukaryotes, BIR domains
inhibit apoptosis by acting as direct inhibitors of the
caspase family of protease enzymes; Region: BIR; cd00022"
/db_xref="CDD:28906"
misc_feature order(941..943,956..958,962..964,983..991,995..997,
1007..1009,1022..1024,1034..1039)
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="peptide binding groove; other site"
/db_xref="CDD:28906"
misc_feature order(965..967,974..976,1025..1027,1046..1048)
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="Zn2+ binding site [ion binding]; other site"
/db_xref="CDD:28906"
misc_feature 1412..1681
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="Caspase activation and recruitment domain found in
Baculoviral IAP repeat-containing proteins, BIRC2 (c-IAP1)
and BIRC3 (c-IAP2); Region: CARD_BIRC2_BIRC3; cd08329"
/db_xref="CDD:176742"
misc_feature 1757..1876
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="RING-finger (Really Interesting New Gene) domain, a
specialized type of Zn-finger of 40 to 60 residues that
binds two atoms of zinc; defined by the 'cross-brace'
motif C-X2-C-X(9-39)-C-X(1-3)-
H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved
in...; Region: RING; cd00162"
/db_xref="CDD:29102"
misc_feature 1757..1867
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="Zinc finger, C3HC4 type (RING finger); Region:
zf-C3HC4_2; pfam13923"
/db_xref="CDD:206094"
misc_feature order(1760..1762,1769..1771,1805..1807,1811..1813,
1823..1825,1832..1834,1853..1855,1862..1864)
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/note="cross-brace motif; other site"
/db_xref="CDD:29102"
variation 212
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:147638046"
variation 221
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="g"
/replace="t"
/db_xref="dbSNP:190798003"
variation 229
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="g"
/replace="t"
/db_xref="dbSNP:201622293"
variation 251
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:200457538"
variation 278
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="g"
/replace="t"
/db_xref="dbSNP:373468213"
variation 294
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:375296936"
variation 404
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="g"
/db_xref="dbSNP:369631692"
variation 421
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:142696464"
variation 445
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="c"
/db_xref="dbSNP:201614272"
variation 449
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:147363362"
variation 454
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:140981143"
variation 459
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:114363568"
variation 466
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:150868637"
variation 503
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="g"
/replace="t"
/db_xref="dbSNP:142241448"
STS 508..739
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/standard_name="PMC166414P1"
/db_xref="UniSTS:271590"
variation 522
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="g"
/db_xref="dbSNP:373200978"
variation 530
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:202103808"
variation 535
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="g"
/replace="t"
/db_xref="dbSNP:376371030"
variation 544
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:200323748"
variation 564
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:369921460"
variation 574
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:139349997"
variation 579
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:372125025"
variation 605
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:372507082"
variation 624
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:182528901"
variation 643
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:377075420"
variation 753
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="t"
/db_xref="dbSNP:150042748"
variation 771
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:144530384"
variation 785
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:145543164"
variation 857
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:199777189"
variation 858
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:199529630"
variation 862
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="g"
/replace="t"
/db_xref="dbSNP:140097579"
variation 863
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:143542691"
variation 907
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:146787390"
variation 938
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:374540712"
variation 939
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:140378382"
exon 945..1044
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/inference="alignment:Splign:1.39.8"
variation 948
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:191312831"
variation 1003
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:182906329"
exon 1045..1123
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/inference="alignment:Splign:1.39.8"
variation 1067
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:113357102"
variation 1070
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:143612582"
variation 1077
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:201120793"
variation 1099
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="t"
/db_xref="dbSNP:151019918"
exon 1124..1172
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/inference="alignment:Splign:1.39.8"
variation 1134
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:191453711"
exon 1173..1415
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/inference="alignment:Splign:1.39.8"
STS 1211..1360
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/standard_name="WI-18122"
/db_xref="UniSTS:13132"
variation 1223..1225
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace=""
/replace="aat"
/db_xref="dbSNP:374365048"
variation 1243
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="g"
/replace="t"
/db_xref="dbSNP:369042949"
variation 1263
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:187423268"
variation 1291
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:190444578"
variation 1352
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="c"
/db_xref="dbSNP:202229070"
variation 1356
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:372654134"
variation 1374
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:377150456"
variation 1386
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:140818148"
variation 1406
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:370745983"
variation 1408
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:34749508"
exon 1416..1670
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/inference="alignment:Splign:1.39.8"
variation 1418
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="g"
/db_xref="dbSNP:138445816"
variation 1434
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:201111444"
variation 1450
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:142757406"
variation 1462
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:146918742"
variation 1475
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:371002487"
variation 1530
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="t"
/db_xref="dbSNP:199507990"
variation 1533
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:137930715"
variation 1548..1549
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace=""
/replace="a"
/db_xref="dbSNP:72317289"
variation 1565
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:201168098"
variation 1566
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:34510872"
variation 1595
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:61754131"
variation 1602
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:375392744"
variation 1608
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:368738246"
variation 1633
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:375715938"
variation 1649
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="t"
/db_xref="dbSNP:372050334"
variation 1651
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:183443211"
exon 1671..1712
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/inference="alignment:Splign:1.39.8"
variation 1687
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:199745735"
variation 1689
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:200728166"
variation 1691
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="c"
/db_xref="dbSNP:199866845"
variation 1694
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:35494784"
variation 1703
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="g"
/replace="t"
/db_xref="dbSNP:371742922"
exon 1713..2393
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/inference="alignment:Splign:1.39.8"
variation 1753
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:201812168"
variation 1803
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:141940436"
variation 1817
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:201982932"
variation 1844
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:61757630"
variation 1871
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:150668897"
variation 1917
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="g"
/replace="t"
/db_xref="dbSNP:375096743"
variation 1918
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="g"
/db_xref="dbSNP:187335846"
variation 1934
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:373002343"
variation 1942
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:35806428"
variation 1954
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:150814245"
variation 1957
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:1801301"
variation 2042
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:193161452"
variation 2055
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="g"
/db_xref="dbSNP:371595637"
STS 2082..2252
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/standard_name="A002E11"
/db_xref="UniSTS:30555"
STS 2102..2290
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/standard_name="D11S4286"
/db_xref="UniSTS:52606"
variation 2103
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:34150604"
variation 2143..2144
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace=""
/replace="gg"
/db_xref="dbSNP:33931521"
variation 2143
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="g"
/replace="t"
/db_xref="dbSNP:111245131"
variation 2144..2145
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace=""
/replace="gg"
/db_xref="dbSNP:71694996"
STS 2165..2308
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/standard_name="RH11632"
/db_xref="UniSTS:4102"
variation 2272
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="c"
/replace="t"
/db_xref="dbSNP:1802868"
variation 2291
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
/replace="a"
/replace="g"
/db_xref="dbSNP:139875396"
polyA_signal 2374..2379
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
polyA_site 2387
/gene="BIRC2"
/gene_synonym="API1; c-IAP1; cIAP1; Hiap-2; HIAP2; MIHB;
RNF48"
ORIGIN
aacgctggtcctcggccgggcgcgctgacgtcatcgtgcgtcagagtgagcccggatggggcggcgggcttcgggagcgcccgggctgatccgagccgagcgggccgtatctccttgtcggcgccgctgattcccggctctgcggaggcctctaggcagccgcgcagcttccgtgtttgctgcgcccgcactgcgaatgtctacatattcaactttccccgccggggtgcctgtctcagaaaggagtcttgctcgtgctggtttttattatactggtgtgaatgacaaggtcaaatgcttctgttgtggcctgatgctggataactggaaactaggagacagtcctattcaaaagcataaacagctatatcctagctgtagctttattcagaatctggtttcagctagtctgggatccacctctaagaatacgtctccaatgagaaacagttttgcacattcattatctcccaccttggaacatagtagcttgttcagtggttcttactccagcctttctccaaaccctcttaattctagagcagttgaagacatctcttcatcgaggactaacccctacagttatgcaatgagtactgaagaagccagatttcttacctaccatatgtggccattaacttttttgtcaccatcagaattggcaagagctggtttttattatataggacctggagatagggtagcctgctttgcctgtggtgggaagctcagtaactgggaaccaaaggatgatgctatgtcagaacaccggaggcattttcccaactgtccatttttggaaaattctctagaaactctgaggtttagcatttcaaatctgagcatgcagacacatgcagctcgaatgagaacatttatgtactggccatctagtgttccagttcagcctgagcagcttgcaagtgctggtttttattatgtgggtcgcaatgatgatgtcaaatgcttttgttgtgatggtggcttgaggtgttgggaatctggagatgatccatgggtagaacatgccaagtggtttccaaggtgtgagttcttgatacgaatgaaaggccaagagtttgttgatgagattcaaggtagatatcctcatcttcttgaacagctgttgtcaacttcagataccactggagaagaaaatgctgacccaccaattattcattttggacctggagaaagttcttcagaagatgctgtcatgatgaatacacctgtggttaaatctgccttggaaatgggctttaatagagacctggtgaaacaaacagttcaaagtaaaatcctgacaactggagagaactataaaacagttaatgatattgtgtcagcacttcttaatgctgaagatgaaaaaagagaagaggagaaggaaaaacaagctgaagaaatggcatcagatgatttgtcattaattcggaagaacagaatggctctctttcaacaattgacatgtgtgcttcctatcctggataatcttttaaaggccaatgtaattaataaacaggaacatgatattattaaacaaaaaacacagatacctttacaagcgagagaactgattgataccattttggttaaaggaaatgctgcggccaacatcttcaaaaactgtctaaaagaaattgactctacattgtataagaacttatttgtggataagaatatgaagtatattccaacagaagatgtttcaggtctgtcactggaagaacaattgaggaggttgcaagaagaacgaacttgtaaagtgtgtatggacaaagaagtttctgttgtatttattccttgtggtcatctggtagtatgccaggaatgtgccccttctctaagaaaatgccctatttgcaggggtataatcaagggtactgttcgtacatttctctcttaaagaaaaatagtctatattttaacctgcataaaaaggtctttaaaatattgttgaacacttgaagccatctaaagtaaaaagggaattatgagtttttcaattagtaacattcatgttctagtctgctttggtactaataatcttgtttctgaaaagatggtatcatatatttaatcttaatctgtttatttacaagggaagatttatgtttggtgaactatattagtatgtatgtgtacctaagggagtagtgtcactgcttgttatgcatcatttcaggagttactggatttgttgttctttcagaaagctttgaatactaaattatagtgtagaaaagaactggaaaccaggaactctggagttcatcagagttatggtgccgaattgtctttggtgcttttcacttgtgttttaaaataaggatttttctcttatttctccccctagtttgtgagaaacatctcaataaagtgctttaaaaagaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:329 -> Molecular function: GO:0003713 [transcription coactivator activity] evidence: IMP
GeneID:329 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: IDA
GeneID:329 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:329 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IDA
GeneID:329 -> Molecular function: GO:0047485 [protein N-terminus binding] evidence: IPI
GeneID:329 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: IDA
GeneID:329 -> Biological process: GO:0001890 [placenta development] evidence: IEA
GeneID:329 -> Biological process: GO:0002224 [toll-like receptor signaling pathway] evidence: TAS
GeneID:329 -> Biological process: GO:0002756 [MyD88-independent toll-like receptor signaling pathway] evidence: TAS
GeneID:329 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:329 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IEA
GeneID:329 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:329 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS
GeneID:329 -> Biological process: GO:0007166 [cell surface receptor signaling pathway] evidence: TAS
GeneID:329 -> Biological process: GO:0034121 [regulation of toll-like receptor signaling pathway] evidence: TAS
GeneID:329 -> Biological process: GO:0034138 [toll-like receptor 3 signaling pathway] evidence: TAS
GeneID:329 -> Biological process: GO:0034142 [toll-like receptor 4 signaling pathway] evidence: TAS
GeneID:329 -> Biological process: GO:0035666 [TRIF-dependent toll-like receptor signaling pathway] evidence: TAS
GeneID:329 -> Biological process: GO:0038061 [NIK/NF-kappaB cascade] evidence: TAS
GeneID:329 -> Biological process: GO:0039535 [regulation of RIG-I signaling pathway] evidence: TAS
GeneID:329 -> Biological process: GO:0042127 [regulation of cell proliferation] evidence: TAS
GeneID:329 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IDA
GeneID:329 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS
GeneID:329 -> Biological process: GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB cascade] evidence: IEP
GeneID:329 -> Biological process: GO:0043161 [proteasomal ubiquitin-dependent protein catabolic process] evidence: IDA
GeneID:329 -> Biological process: GO:0045087 [innate immune response] evidence: TAS
GeneID:329 -> Biological process: GO:0045088 [regulation of innate immune response] evidence: TAS
GeneID:329 -> Biological process: GO:0045595 [regulation of cell differentiation] evidence: TAS
GeneID:329 -> Biological process: GO:0050727 [regulation of inflammatory response] evidence: TAS
GeneID:329 -> Biological process: GO:0051726 [regulation of cell cycle] evidence: IDA
GeneID:329 -> Biological process: GO:0070266 [necroptosis] evidence: IEA
GeneID:329 -> Biological process: GO:0070424 [regulation of nucleotide-binding oligomerization domain containing signaling pathway] evidence: TAS
GeneID:329 -> Biological process: GO:2000116 [regulation of cysteine-type endopeptidase activity] evidence: TAS
GeneID:329 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:329 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:329 -> Cellular component: GO:0009898 [internal side of plasma membrane] evidence: ISS
GeneID:329 -> Cellular component: GO:0035631 [CD40 receptor complex] evidence: ISS
by
@meso_cacase at
DBCLS
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