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2024-05-08 22:53:52, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001204107 5033 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11),
transcript variant 12, mRNA.
ACCESSION NM_001204107
VERSION NM_001204107.1 GI:323362960
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 5033)
AUTHORS Hara,H., Takeda,T., Yamamoto,N., Furuya,K., Hirose,K., Kamiya,T.
and Adachi,T.
TITLE Zinc-induced modulation of SRSF6 activity alters Bim splicing to
promote generation of the most potent apoptotic isoform BimS
JOURNAL FEBS J. 280 (14), 3313-3327 (2013)
PUBMED 23648111
REFERENCE 2 (bases 1 to 5033)
AUTHORS Ha Thi,H.T., Lim,H.S., Kim,J., Kim,Y.M., Kim,H.Y. and Hong,S.
TITLE Transcriptional and post-translational regulation of Bim is
essential for TGF-beta and TNF-alpha-induced apoptosis of gastric
cancer cell
JOURNAL Biochim. Biophys. Acta 1830 (6), 3584-3592 (2013)
PUBMED 23500081
REFERENCE 3 (bases 1 to 5033)
AUTHORS Piazza,R., Magistroni,V., Mogavero,A., Andreoni,F., Ambrogio,C.,
Chiarle,R., Mologni,L., Bachmann,P.S., Lock,R.B., Collini,P.,
Pelosi,G. and Gambacorti-Passerini,C.
TITLE Epigenetic silencing of the proapoptotic gene BIM in anaplastic
large cell lymphoma through an MeCP2/SIN3a deacetylating complex
JOURNAL Neoplasia 15 (5), 511-522 (2013)
PUBMED 23633923
REFERENCE 4 (bases 1 to 5033)
AUTHORS Bean,G.R., Ganesan,Y.T., Dong,Y., Takeda,S., Liu,H., Chan,P.M.,
Huang,Y., Chodosh,L.A., Zambetti,G.P., Hsieh,J.J. and Cheng,E.H.
TITLE PUMA and BIM are required for oncogene inactivation-induced
apoptosis
JOURNAL Sci Signal 6 (268), RA20 (2013)
PUBMED 23532334
REMARK Publication Status: Online-Only
REFERENCE 5 (bases 1 to 5033)
AUTHORS Sharma,A., Singh,K., Mazumder,S., Hill,B.T., Kalaycio,M. and
Almasan,A.
TITLE BECN1 and BIM interactions with MCL-1 determine fludarabine
resistance in leukemic B cells
JOURNAL Cell Death Dis 4, E628 (2013)
PUBMED 23681223
REMARK Publication Status: Online-Only
REFERENCE 6 (bases 1 to 5033)
AUTHORS Ng,K.P., Hillmer,A.M., Chuah,C.T., Juan,W.C., Ko,T.K., Teo,A.S.,
Ariyaratne,P.N., Takahashi,N., Sawada,K., Fei,Y., Soh,S., Lee,W.H.,
Huang,J.W., Allen,J.C. Jr., Woo,X.Y., Nagarajan,N., Kumar,V.,
Thalamuthu,A., Poh,W.T., Ang,A.L., Mya,H.T., How,G.F., Yang,L.Y.,
Koh,L.P., Chowbay,B., Chang,C.T., Nadarajan,V.S., Chng,W.J.,
Than,H., Lim,L.C., Goh,Y.T., Zhang,S., Poh,D., Tan,P., Seet,J.E.,
Ang,M.K., Chau,N.M., Ng,Q.S., Tan,D.S., Soda,M., Isobe,K.,
Nothen,M.M., Wong,T.Y., Shahab,A., Ruan,X., Cacheux-Rataboul,V.,
Sung,W.K., Tan,E.H., Yatabe,Y., Mano,H., Soo,R.A., Chin,T.M.,
Lim,W.T., Ruan,Y. and Ong,S.T.
TITLE A common BIM deletion polymorphism mediates intrinsic resistance
and inferior responses to tyrosine kinase inhibitors in cancer
JOURNAL Nat. Med. 18 (4), 521-528 (2012)
PUBMED 22426421
REMARK GeneRIF: the heterogeneity of tyrosine kinase inhibitors responses
across individuals and suggest the possibility of personalizing
therapy with BH3 mimetics to overcome BIM-polymorphism-associated
tyrosine kinase inhibitors resistance.
Publication Status: Online-Only
REFERENCE 7 (bases 1 to 5033)
AUTHORS Huang,D.C., Adams,J.M. and Cory,S.
TITLE The conserved N-terminal BH4 domain of Bcl-2 homologues is
essential for inhibition of apoptosis and interaction with CED-4
JOURNAL EMBO J. 17 (4), 1029-1039 (1998)
PUBMED 9463381
REFERENCE 8 (bases 1 to 5033)
AUTHORS O'Connor,L., Strasser,A., O'Reilly,L.A., Hausmann,G., Adams,J.M.,
Cory,S. and Huang,D.C.
TITLE Bim: a novel member of the Bcl-2 family that promotes apoptosis
JOURNAL EMBO J. 17 (2), 384-395 (1998)
PUBMED 9430630
REFERENCE 9 (bases 1 to 5033)
AUTHORS Zha,J., Harada,H., Yang,E., Jockel,J. and Korsmeyer,S.J.
TITLE Serine phosphorylation of death agonist BAD in response to survival
factor results in binding to 14-3-3 not BCL-X(L)
JOURNAL Cell 87 (4), 619-628 (1996)
PUBMED 8929531
REFERENCE 10 (bases 1 to 5033)
AUTHORS Wang,K., Yin,X.M., Chao,D.T., Milliman,C.L. and Korsmeyer,S.J.
TITLE BID: a novel BH3 domain-only death agonist
JOURNAL Genes Dev. 10 (22), 2859-2869 (1996)
PUBMED 8918887
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC096670.1, AK290377.1,
AY423442.1 and AI268146.1.
This sequence is a reference standard in the RefSeqGene project.
Summary: The protein encoded by this gene belongs to the BCL-2
protein family. BCL-2 family members form hetero- or homodimers and
act as anti- or pro-apoptotic regulators that are involved in a
wide variety of cellular activities. The protein encoded by this
gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to
interact with other members of the BCL-2 protein family and to act
as an apoptotic activator. The expression of this gene can be
induced by nerve growth factor (NGF), as well as by the forkhead
transcription factor FKHR-L1, which suggests a role of this gene in
neuronal and lymphocyte apoptosis. Transgenic studies of the mouse
counterpart suggested that this gene functions as an essential
initiator of apoptosis in thymocyte-negative selection. Several
alternatively spliced transcript variants of this gene have been
identified. [provided by RefSeq, Jun 2013].
Transcript Variant: This variant (12) uses an alternate in-frame
splice site in the 5' coding region, contains two alternate
internal exons, and differs in the 3' coding region and UTR,
compared to variant 1. The resulting isoform (12) is shorter and
has a distinct C-terminus, compared to isoform 1. This record was
created to support clinical studies, but the encoded isoform
currently lacks experimental evidence.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
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##
CDS exon combination :: AY423442.1 [ECO:0000331]
RNAseq introns :: mixed/partial sample support ERS025083,
ERS025084 [ECO:0000350]
##Evidence-Data-END##
##RefSeq-Attributes-START##
NMD candidate :: translation inferred
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-72 AC096670.1 78236-78307 c
73-288 AK290377.1 73-288
289-482 AY423442.1 1-194
483-483 AC096670.1 49107-49107 c
484-812 AY423442.1 196-524
813-5008 AC096670.1 30794-34989 c
5009-5033 AI268146.1 1-25 c
FEATURES Location/Qualifiers
source 1..5033
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q13"
gene 1..5033
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/note="BCL2-like 11 (apoptosis facilitator)"
/db_xref="GeneID:10018"
/db_xref="HGNC:994"
/db_xref="MIM:603827"
exon 1..275
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/inference="alignment:Splign:1.39.8"
variation 67..69
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="gcc"
/db_xref="dbSNP:5833391"
variation 72
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1439286"
variation 75
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:3929143"
misc_feature 121..123
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/note="upstream in-frame stop codon"
variation 196
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:368164757"
variation 209
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:116907128"
exon 276..412
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/inference="alignment:Splign:1.39.8"
variation 285
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:189552070"
CDS 289..546
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/note="isoform 12 is encoded by transcript variant 12;
bcl-2 interacting protein Bim; bcl-2 interacting mediator
of cell death; bcl-2-related ovarian death agonist"
/codon_start=1
/product="bcl-2-like protein 11 isoform 12"
/protein_id="NP_001191036.1"
/db_xref="GI:323362961"
/db_xref="CCDS:CCDS56132.1"
/db_xref="GeneID:10018"
/db_xref="HGNC:994"
/db_xref="MIM:603827"
/translation="
MAKQPSDVSSECDREGRQLQPAERPPQLRPGAPTSLQTEPQASMRQAEPADMRPEIWIAQELRRIGDEFNAYYARRLAKLLASST
"
misc_feature 298..408
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/note="Bim protein N-terminus; Region: Bim_N; pfam06773"
/db_xref="CDD:115431"
misc_feature 412..>498
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/note="Bcl-x interacting; Region: Bclx_interact;
pfam08945"
/db_xref="CDD:149879"
variation 327
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:112446582"
variation 342
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:140468882"
variation 365
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:375839187"
variation 382
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:200974474"
variation 386
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:370683853"
variation 388
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:151214891"
variation 390
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:150345581"
exon 413..516
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/inference="alignment:Splign:1.39.8"
variation 443
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:114585494"
variation 446
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:141962978"
variation 462
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:143377281"
variation 474..475
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="c"
/db_xref="dbSNP:35807932"
variation 475
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:146318804"
variation 478
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:370016302"
variation 479
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:373945451"
variation 483
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:724710"
variation 498
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:142641143"
variation 506
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:376024148"
exon 517..588
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/inference="alignment:Splign:1.39.8"
variation 520
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:377424906"
variation 535
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:114858291"
variation 571
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:140646021"
variation 578
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:190520877"
exon 589..713
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/inference="alignment:Splign:1.39.8"
exon 714..5026
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/inference="alignment:Splign:1.39.8"
variation 716
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:142125092"
variation 740
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:193171782"
variation 747
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:374405413"
variation 754
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:185078669"
variation 768
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:138706378"
variation 778
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:150291943"
variation 800
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:372164447"
variation 804
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:375598912"
STS 810..952
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/standard_name="RH99076"
/db_xref="UniSTS:90012"
variation 824
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:200016050"
variation 825
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:202136894"
variation 830
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:376786434"
variation 839
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:73954977"
variation 844
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:10199276"
variation 880
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:111743396"
variation 891
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:7595612"
variation 899
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:12996100"
variation 920
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:73954978"
variation 939
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:12989846"
variation 944
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:114776970"
variation 1037
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:115158848"
variation 1108
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:367628733"
variation 1111
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:116174114"
variation 1148
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:149549441"
variation 1191
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:115106683"
polyA_signal 1193..1198
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
polyA_site 1212
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
variation 1219
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:371903732"
variation 1323
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:72948380"
variation 1349
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:143188267"
variation 1441
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:148236299"
variation 1455
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:141765222"
variation 1480
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:189977826"
variation 1561
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:73954981"
variation 1915
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:77565616"
variation 2052
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:146204948"
variation 2062
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:181241895"
variation 2063
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:139230805"
variation 2068
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:373964210"
variation 2074
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:200499684"
variation 2090..2091
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="t"
/db_xref="dbSNP:68021656"
variation 2116..2117
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="aat"
/db_xref="dbSNP:375483724"
variation 2124
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:142335632"
variation 2142
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:112485457"
variation 2158
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:150522049"
variation 2204
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:74787552"
variation 2282
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:183793167"
variation 2314
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:368175038"
variation 2352
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:13422314"
variation 2388
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:72837819"
variation 2402..2403
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="ta"
/db_xref="dbSNP:113512595"
variation 2492
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:1051222"
variation 2499
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:375194820"
variation 2520
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:149840577"
variation 2547
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:10201912"
variation 2595
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:369746614"
variation 2633
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:6750142"
variation 2634
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:6753785"
variation 2702
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:180695314"
variation 2741
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:144847549"
variation 2790
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:375517063"
variation 2817
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:112845179"
variation 2819
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:111569632"
variation 2872
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:118047556"
variation 2996..2997
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="g"
/db_xref="dbSNP:35247728"
variation 3119
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:148552232"
variation 3120
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:186316334"
variation 3145
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:73954982"
STS 3163..3272
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/standard_name="WI-11737"
/db_xref="UniSTS:72182"
variation 3252
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:145582217"
variation 3257
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:191863875"
variation 3284
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:147688758"
variation 3393..3394
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="a"
/db_xref="dbSNP:377590041"
variation 3450
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:371870358"
variation 3557..3558
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="a"
/db_xref="dbSNP:370249195"
variation 3563
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:182097802"
variation 3568..3569
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="ct"
/db_xref="dbSNP:139489747"
variation 3699
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:186695504"
variation 3833
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:13421457"
variation 3879
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:113315090"
variation 4028
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:142474437"
variation 4048..4049
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="a"
/db_xref="dbSNP:372197396"
variation 4180
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:191596895"
variation 4209
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:76256675"
variation 4265..4266
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="t"
/db_xref="dbSNP:113356382"
variation 4335
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:369475391"
variation 4368
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:151236568"
variation 4375
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:114720778"
variation 4414
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:377665630"
variation 4431
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:73954983"
variation 4456
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:140452150"
variation 4653
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:371052885"
variation 4673
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:376059878"
variation 4736..4742
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="aacataa"
/db_xref="dbSNP:3833441"
variation 4742..4748
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="tttatgt"
/db_xref="dbSNP:71801447"
variation 4742
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:200735948"
STS 4776..4898
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/standard_name="RH91369"
/db_xref="UniSTS:85445"
variation 4900
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:115389757"
variation 4936
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:73954984"
polyA_signal 5007..5012
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
polyA_site 5026
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
ORIGIN
acttcgctccgcgcagccgcctggtctgcagtttgttggagctctgcgtccagcgccgctgccgctgccgccgccgccgccgccgccgccgccgccgccgccgccgccactaccaccacttgattcttgcagccaccctgcgaaccctgccacactgcgatcgcatcatcgcggtattcggttcgctgcgttcccgccgccaccgcctcggcgccctttcttggcccttgttcccccaaatgtctgactctgactctcggactgagaaacgcaagaaaaaaagaccaaatggcaaagcaaccttctgatgtaagttctgagtgtgaccgagaaggtagacaattgcagcctgcggagaggcctccccagctcagacctggggcccctacctccctacagacagagccacaagcttccatgaggcaggctgaacctgcagatatgcgcccagagatatggatcgcccaagagttgcggcgtattggagacgagtttaacgcttactatgcaaggaggctggcaaaactcctggcatcctccacctgacataaaccagttcacagaacattccagcctagatctgaaatgttagagaaatagaggaagttgtcgtgtagttgtcatgtattcagtccacttaagggcagtggggaagcgtttgagacggagctgtggaggctgaatccttgaaggaggaggtgagagaggcacaggtatttttgaataattaccaagcagccgaagaccacccacgaatggttatcttacgactgttacgttacattgtccgcctggtgtggagaatgcattgacaggttctttgcggagccgagataccatgcagacattttgcttgttcaaaccaacaagacccagcaccgcggtctcctggtgccattattatgcagccagcggttctcttgtggagggggcaggtgacgtttcagaagacaccgagctggatgggactacctttctgttcatcaccacacagcagaatttctaatggaagtttgttgtgaatgtaaaggagggagcattctttgctttttaatatacaaaccatggttttttggagcaggattttgtgtaagaatggtgtttacatgcagtgtgttttccccctcaccttcaataaggtttttcaaaaaggaaatggaaactttttaaccaatttgtgaataacttttgtattaaaattttaagaacctacggcctattctcagaggattatgtaacccctgcagtggaaactgagccagctaacttaaaaagctgccttagtttatttttagagattacagaatttttaaacagggagacgtgtgatatactccctcccttccctactattgcctctctgacctttttaaattatttttaataccaaaagagttcttttgaaatggaactgattaaaagggcagagggtctgttgccagcctgcattgatataccagtcccatttgtaaatatttacgtacctttataaattcagttgcatctgtggcaaaatttcagactatttttgcgtctttcctcatcactttttgtgatgcaactccagtctggactcagatgcatagatttggtccagtgtattttcatgataaagtgaaattgagtcagaacaagagttaatatctgcctgtatcttgcacagttcgagcgatctgttattaactgggaagcatttggtgttggttttcattccatttcgacgagcatgttattgggaagtattctgaagaggcaatagcagtaataacaacagacttaagtgctacgcccctttgtgctgctggcttttctggttgcaggctttcccatggtcacaggatgcactgtcagcatcaggtcccagagggccaccgtgtccattacagcagagtccagctgcagcatccagctcacgccctcatgggaattggcacaggcctggggcagggcttctgatggccatttgcttggcctcctgcattttagtccaactcacagtccactagcttcactcctttaaattcactttgaaacaggcctcatcccacttccaccagcaccatagaagaataattctgggcagaagtctgttttttttcatttttccaggacagttggatattgtcaggccacttgtgaccccagccatgtagtgagggtgctctttctctgtgcctgctccttatgagtgcagtggaaggaagccacacactggtcagtcatttcagaggcagcagatgcccagggagacccaagaaagagtcaggttagggagcagtgaaagtgaggagggaagacaattctgtgaactctgtaactcttaaaatttttgaaaactccatcgttaaacaacttttaaaagaaataactaaattttcaaatgagtaagcagtgccaccaactagtgttttgcccgatagaagagccagcatgttcacgttatttaaattaggtggaaaaatctaaacatttttatcttcataatttaaaaaatatatatgtatatattgcatattcactttttcctttaggtagagatgatttcaatccaaatactcttactttaaaaaatttcctttccccaagaatctccttgggactttgacttatttttaaagctgtgttggagctcatcttgttccctgatgtgtctcgagcccattggtagggtcatacaaagcccacggttacaagcagtggtaggattgcagccgtgggcctgctggacacacacatacaccaaagatgtatttggatctgggcaccccctcccaggatccctgtactcacgtgccagtctcctgactagagcactttactctgtttcctcagccctgcagcccctgggagcacacactgggtgcagccctgggccaggcacgggaggccctgccctgtgctgcccaggggctgtgtgcaccacatgagcacatttccctctggcctggcggcctccaggctggctgtggaaacagttcctgaggaaattagagattctatgaattgtaggagtattaaagaccaggctgttggcaccagaacttaaagcgatgactggatgtctctgtactgtatgtatctggttatcaagatgcctctgtgcagaaagtatgcctcccgtgggtatacgtttttaccttttttaaaaaacatttttgtagaaaaaataattaaatcccctttttggaaacttactgcaggttttgtgccttgacaacctctccctatgtgaggtttgtaaaaagtgtcctgtgacttaacacagaaacgcaataaacacacacaaaatagtttcatgagtgattcttcagatgcccttcccaactggttagttgatcaagaattttgggggtgggggttgcggagaaatcaagtttaaaattccttctgattaaaaaaatatagtggaatacaattgtctgccgtttccccttcttaatgtatatattgtgagtatttattagattcgtaggtcatattacttatcaactgagccaaatgtctgtgtgcaattgtgtttcctttaccttgtaaaattttgtacagcataaataagtaaaaaaatcactgtttttctcaactttttcaaaatcaaggattgtaaatattgtagattctttttctgtgtgatgtgtcctactgtttcataatgctgtaacttgtagaaatattgtatatttattttctgcttatttaatgtcttaatttctgaaaagtattaacatccctgtctcccactcccctgccgtcccatgaagttaactcctgagagttgtcgggggtgactggagagctcattgcagaccacgtggtcctccagggtggctctccaccttcgggtcctggtatttccagtcaagtgggtttcaattcttgggctttgccgcccttatgatgaagtgtgtgtttgatgccagtgagaaactcagtctggcaggctacaaaattctactccaagaaatacccagcaaccttctgtttgttccaaagcaactagcttatcatgcaagcaaattttgctgactccaggctttatctttaggaaaacaaaaaaaccaaagtattatcagcaggtgggaaagatttttctattgaaaatttatccctgacaactcagcgtttagaaaagaaataaaatgtgccacttccagaggtgctgcattgcagttgttcagggctagggccaggcaggacaagtgaatgggtgggacaggtggctcctgcctaaggaccacctcaggccactaaccccttgtggacaactgtgagtagctgggttttcccccacctgctgtgcaacttcctgtgctttgaggttggactaacttgtcttcaggagctaattaactgtacagccctccccacgccccacccatacggtcactgcatttggtcagcctgcttcttcaggtcgatgccctccttctgatactccatctccttcaggggaggttggggccccactggactgggtgtcaagatgtgaaagcttatgggagctttaaggagacttcatggtggttccatgcaggtggttctgccatccctgctgatttagcctggtgcctgtgtgtgtccactcacgtacacgtggggtgggggaaacgtgtctacagatgacgctaaatcagttggggtctactctaaacagcattgtgtgtaagaagcatcctcaagctcccagttaagtaacttgactacttttatttgggaatttcagactatagaagctctcttatgttttatgtccagattctgtgaccactagttactgtatcagaactcatcaggtacccacttataaatagcactgatctggctgtatactgatccatcactaacctgttttctaggacccagcgtatgtagcatttgtattgcagtttccctggcttacttgtgttttgcactgatgaattttgacagggtaattgccactttacttgtgcaatactgctgtaaataactgcagatttttaaacaatcttttatgttaattttataaaaataaaactttcaactagttaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:10018 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:10018 -> Molecular function: GO:0008017 [microtubule binding] evidence: IDA
GeneID:10018 -> Molecular function: GO:0008017 [microtubule binding] evidence: IEA
GeneID:10018 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IEA
GeneID:10018 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA
GeneID:10018 -> Biological process: GO:0001782 [B cell homeostasis] evidence: IEA
GeneID:10018 -> Biological process: GO:0001783 [B cell apoptotic process] evidence: IEA
GeneID:10018 -> Biological process: GO:0001822 [kidney development] evidence: IEA
GeneID:10018 -> Biological process: GO:0002262 [myeloid cell homeostasis] evidence: IEA
GeneID:10018 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:10018 -> Biological process: GO:0006917 [induction of apoptosis] evidence: TAS
GeneID:10018 -> Biological process: GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: IDA
GeneID:10018 -> Biological process: GO:0007160 [cell-matrix adhesion] evidence: IEA
GeneID:10018 -> Biological process: GO:0007283 [spermatogenesis] evidence: IEA
GeneID:10018 -> Biological process: GO:0007420 [brain development] evidence: IEA
GeneID:10018 -> Biological process: GO:0008584 [male gonad development] evidence: IEA
GeneID:10018 -> Biological process: GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] evidence: IDA
GeneID:10018 -> Biological process: GO:0030879 [mammary gland development] evidence: IEA
GeneID:10018 -> Biological process: GO:0032464 [positive regulation of protein homooligomerization] evidence: IDA
GeneID:10018 -> Biological process: GO:0034976 [response to endoplasmic reticulum stress] evidence: IDA
GeneID:10018 -> Biological process: GO:0035148 [tube formation] evidence: IEA
GeneID:10018 -> Biological process: GO:0042475 [odontogenesis of dentin-containing tooth] evidence: IEA
GeneID:10018 -> Biological process: GO:0043029 [T cell homeostasis] evidence: IEA
GeneID:10018 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IMP
GeneID:10018 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: TAS
GeneID:10018 -> Biological process: GO:0043525 [positive regulation of neuron apoptotic process] evidence: IEA
GeneID:10018 -> Biological process: GO:0043583 [ear development] evidence: IEA
GeneID:10018 -> Biological process: GO:0045787 [positive regulation of cell cycle] evidence: IEA
GeneID:10018 -> Biological process: GO:0046620 [regulation of organ growth] evidence: IEA
GeneID:10018 -> Biological process: GO:0048011 [neurotrophin TRK receptor signaling pathway] evidence: TAS
GeneID:10018 -> Biological process: GO:0048066 [developmental pigmentation] evidence: IEA
GeneID:10018 -> Biological process: GO:0048070 [regulation of developmental pigmentation] evidence: IEA
GeneID:10018 -> Biological process: GO:0048536 [spleen development] evidence: IEA
GeneID:10018 -> Biological process: GO:0048538 [thymus development] evidence: IEA
GeneID:10018 -> Biological process: GO:0048563 [post-embryonic organ morphogenesis] evidence: IEA
GeneID:10018 -> Biological process: GO:0060154 [cellular process regulating host cell cycle in response to virus] evidence: IEA
GeneID:10018 -> Biological process: GO:0090200 [positive regulation of release of cytochrome c from mitochondria] evidence: IGI
GeneID:10018 -> Biological process: GO:0090200 [positive regulation of release of cytochrome c from mitochondria] evidence: IMP
GeneID:10018 -> Biological process: GO:0097190 [apoptotic signaling pathway] evidence: TAS
GeneID:10018 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS
GeneID:10018 -> Biological process: GO:1900740 [positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] evidence: TAS
GeneID:10018 -> Biological process: GO:2000271 [positive regulation of fibroblast apoptotic process] evidence: IDA
GeneID:10018 -> Biological process: GO:2001244 [positive regulation of intrinsic apoptotic signaling pathway] evidence: IMP
GeneID:10018 -> Biological process: GO:2001244 [positive regulation of intrinsic apoptotic signaling pathway] evidence: TAS
GeneID:10018 -> Cellular component: GO:0005741 [mitochondrial outer membrane] evidence: TAS
GeneID:10018 -> Cellular component: GO:0005829 [cytosol] evidence: IDA
GeneID:10018 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:10018 -> Cellular component: GO:0005874 [microtubule] evidence: IDA
GeneID:10018 -> Cellular component: GO:0012505 [endomembrane system] evidence: IEA
GeneID:10018 -> Cellular component: GO:0019898 [extrinsic to membrane] evidence: IEA
GeneID:10018 -> Cellular component: GO:0097140 [BIM-BCL-xl complex] evidence: IDA
GeneID:10018 -> Cellular component: GO:0097141 [BIM-BCL-2 complex] evidence: IDA
by
@meso_cacase at
DBCLS
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