Home |
Help |
Advanced search
2024-04-23 23:01:29, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_138624 5139 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11),
transcript variant 4, mRNA.
ACCESSION NM_138624
VERSION NM_138624.3 GI:323362955
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 5139)
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 5139)
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 5139)
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 5139)
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 5139)
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 5139)
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 5139)
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 5139)
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 5139)
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 5139)
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,
AB071197.1 and AI268146.1.
This sequence is a reference standard in the RefSeqGene project.
On Feb 12, 2011 this sequence version replaced gi:46276875.
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 (4, also known as Bim-beta1)
contains an alternate internal exon, and differs in the 3' coding
region and UTR, compared to variant 1. The resulting isoform (4)
has a shorter and 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 :: AB071197.1 [ECO:0000331]
RNAseq introns :: mixed/partial sample support ERS025081,
ERS025083 [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
289-785 AB071197.1 1-497
786-786 AC096670.1 49107-49107 c
787-918 AB071197.1 499-630
919-5114 AC096670.1 30794-34989 c
5115-5139 AI268146.1 1-25 c
FEATURES Location/Qualifiers
source 1..5139
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q13"
gene 1..5139
/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..682
/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..696
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/note="isoform 4 is encoded by transcript variant 4; 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 4"
/protein_id="NP_619530.1"
/db_xref="GI:20336321"
/db_xref="CCDS:CCDS56134.1"
/db_xref="GeneID:10018"
/db_xref="HGNC:994"
/db_xref="MIM:603827"
/translation="
MAKQPSDVSSECDREGRQLQPAERPPQLRPGAPTSLQTEPQGNPEGNHGGEGDSCPHGSPQGPLAPPASPGPFATRSPLFIFMRRSSLLSRSSSGYFSFDTDRSPAPMSCDKSTQTPSPPCQAFNHYLSAMANWD
"
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 493..495
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by MAPK; propagated from
UniProtKB/Swiss-Prot (O43521.1); phosphorylation site"
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"
variation 428
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:199602272"
variation 453
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:368816038"
variation 476
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:376019476"
variation 478
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:116642497"
variation 497
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:142060590"
variation 521
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:142670904"
variation 542
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:372180669"
variation 572
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:375532454"
exon 683..715
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/inference="alignment:Splign:1.39.8"
variation 712
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:73954956"
exon 716..819
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/inference="alignment:Splign:1.39.8"
variation 746
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:114585494"
variation 749
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:141962978"
variation 765
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:143377281"
variation 777..778
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="c"
/db_xref="dbSNP:35807932"
variation 778
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:146318804"
variation 781
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:370016302"
variation 782
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:373945451"
variation 786
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:724710"
variation 801
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:142641143"
variation 809
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:376024148"
exon 820..5132
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/inference="alignment:Splign:1.39.8"
variation 822
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:142125092"
variation 846
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:193171782"
variation 853
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:374405413"
variation 860
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:185078669"
variation 874
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:138706378"
variation 884
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:150291943"
variation 906
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:372164447"
variation 910
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:375598912"
STS 916..1058
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/standard_name="RH99076"
/db_xref="UniSTS:90012"
variation 930
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:200016050"
variation 931
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:202136894"
variation 936
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:376786434"
variation 945
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:73954977"
variation 950
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:10199276"
variation 986
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:111743396"
variation 997
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:7595612"
variation 1005
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:12996100"
variation 1026
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:73954978"
variation 1045
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:12989846"
variation 1050
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:114776970"
variation 1143
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:115158848"
variation 1214
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:367628733"
variation 1217
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:116174114"
variation 1254
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:149549441"
variation 1297
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:115106683"
polyA_signal 1299..1304
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
polyA_site 1318
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
variation 1325
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:371903732"
variation 1429
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:72948380"
variation 1455
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:143188267"
variation 1547
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:148236299"
variation 1561
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:141765222"
variation 1586
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:189977826"
variation 1667
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:73954981"
variation 2021
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:77565616"
variation 2158
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:146204948"
variation 2168
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:181241895"
variation 2169
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:139230805"
variation 2174
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:373964210"
variation 2180
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:200499684"
variation 2196..2197
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="t"
/db_xref="dbSNP:68021656"
variation 2222..2223
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="aat"
/db_xref="dbSNP:375483724"
variation 2230
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:142335632"
variation 2248
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:112485457"
variation 2264
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:150522049"
variation 2310
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:74787552"
variation 2388
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:183793167"
variation 2420
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:368175038"
variation 2458
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:13422314"
variation 2494
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:72837819"
variation 2508..2509
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="ta"
/db_xref="dbSNP:113512595"
variation 2598
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:1051222"
variation 2605
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:375194820"
variation 2626
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:149840577"
variation 2653
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:10201912"
variation 2701
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:369746614"
variation 2739
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:6750142"
variation 2740
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:6753785"
variation 2808
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:180695314"
variation 2847
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:144847549"
variation 2896
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:375517063"
variation 2923
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:112845179"
variation 2925
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:111569632"
variation 2978
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:118047556"
variation 3102..3103
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="g"
/db_xref="dbSNP:35247728"
variation 3225
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:148552232"
variation 3226
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:186316334"
variation 3251
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:73954982"
STS 3269..3378
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/standard_name="WI-11737"
/db_xref="UniSTS:72182"
variation 3358
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:145582217"
variation 3363
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:191863875"
variation 3390
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:147688758"
variation 3499..3500
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="a"
/db_xref="dbSNP:377590041"
variation 3556
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:371870358"
variation 3663..3664
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="a"
/db_xref="dbSNP:370249195"
variation 3669
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:182097802"
variation 3674..3675
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="ct"
/db_xref="dbSNP:139489747"
variation 3805
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:186695504"
variation 3939
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:13421457"
variation 3985
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:113315090"
variation 4134
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:142474437"
variation 4154..4155
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="a"
/db_xref="dbSNP:372197396"
variation 4286
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:191596895"
variation 4315
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:76256675"
variation 4371..4372
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="t"
/db_xref="dbSNP:113356382"
variation 4441
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:369475391"
variation 4474
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:151236568"
variation 4481
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:114720778"
variation 4520
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:377665630"
variation 4537
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:73954983"
variation 4562
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:140452150"
variation 4759
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:371052885"
variation 4779
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:376059878"
variation 4842..4848
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="aacataa"
/db_xref="dbSNP:3833441"
variation 4848..4854
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="tttatgt"
/db_xref="dbSNP:71801447"
variation 4848
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:200735948"
STS 4882..5004
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/standard_name="RH91369"
/db_xref="UniSTS:85445"
variation 5006
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:115389757"
variation 5042
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:73954984"
polyA_signal 5113..5118
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
polyA_site 5132
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
ORIGIN
acttcgctccgcgcagccgcctggtctgcagtttgttggagctctgcgtccagcgccgctgccgctgccgccgccgccgccgccgccgccgccgccgccgccgccgccactaccaccacttgattcttgcagccaccctgcgaaccctgccacactgcgatcgcatcatcgcggtattcggttcgctgcgttcccgccgccaccgcctcggcgccctttcttggcccttgttcccccaaatgtctgactctgactctcggactgagaaacgcaagaaaaaaagaccaaatggcaaagcaaccttctgatgtaagttctgagtgtgaccgagaaggtagacaattgcagcctgcggagaggcctccccagctcagacctggggcccctacctccctacagacagagccacaaggtaatcctgaaggcaatcacggaggtgaaggggacagctgcccccacggcagccctcagggcccgctggccccacctgccagccctggcccttttgctaccagatccccgcttttcatctttatgagaagatcctccctgctgtctcgatcctccagtgggtatttctcttttgacacagacaggagcccagcacccatgagttgtgacaaatcaacacaaaccccaagtcctccttgccaggccttcaaccactatctcagtgcaatggctaactgggactagaaacagctccatcacccagcttccatgaggcaggctgaacctgcagatatgcgcccagagatatggatcgcccaagagttgcggcgtattggagacgagtttaacgcttactatgcaaggagggtatttttgaataattaccaagcagccgaagaccacccacgaatggttatcttacgactgttacgttacattgtccgcctggtgtggagaatgcattgacaggttctttgcggagccgagataccatgcagacattttgcttgttcaaaccaacaagacccagcaccgcggtctcctggtgccattattatgcagccagcggttctcttgtggagggggcaggtgacgtttcagaagacaccgagctggatgggactacctttctgttcatcaccacacagcagaatttctaatggaagtttgttgtgaatgtaaaggagggagcattctttgctttttaatatacaaaccatggttttttggagcaggattttgtgtaagaatggtgtttacatgcagtgtgttttccccctcaccttcaataaggtttttcaaaaaggaaatggaaactttttaaccaatttgtgaataacttttgtattaaaattttaagaacctacggcctattctcagaggattatgtaacccctgcagtggaaactgagccagctaacttaaaaagctgccttagtttatttttagagattacagaatttttaaacagggagacgtgtgatatactccctcccttccctactattgcctctctgacctttttaaattatttttaataccaaaagagttcttttgaaatggaactgattaaaagggcagagggtctgttgccagcctgcattgatataccagtcccatttgtaaatatttacgtacctttataaattcagttgcatctgtggcaaaatttcagactatttttgcgtctttcctcatcactttttgtgatgcaactccagtctggactcagatgcatagatttggtccagtgtattttcatgataaagtgaaattgagtcagaacaagagttaatatctgcctgtatcttgcacagttcgagcgatctgttattaactgggaagcatttggtgttggttttcattccatttcgacgagcatgttattgggaagtattctgaagaggcaatagcagtaataacaacagacttaagtgctacgcccctttgtgctgctggcttttctggttgcaggctttcccatggtcacaggatgcactgtcagcatcaggtcccagagggccaccgtgtccattacagcagagtccagctgcagcatccagctcacgccctcatgggaattggcacaggcctggggcagggcttctgatggccatttgcttggcctcctgcattttagtccaactcacagtccactagcttcactcctttaaattcactttgaaacaggcctcatcccacttccaccagcaccatagaagaataattctgggcagaagtctgttttttttcatttttccaggacagttggatattgtcaggccacttgtgaccccagccatgtagtgagggtgctctttctctgtgcctgctccttatgagtgcagtggaaggaagccacacactggtcagtcatttcagaggcagcagatgcccagggagacccaagaaagagtcaggttagggagcagtgaaagtgaggagggaagacaattctgtgaactctgtaactcttaaaatttttgaaaactccatcgttaaacaacttttaaaagaaataactaaattttcaaatgagtaagcagtgccaccaactagtgttttgcccgatagaagagccagcatgttcacgttatttaaattaggtggaaaaatctaaacatttttatcttcataatttaaaaaatatatatgtatatattgcatattcactttttcctttaggtagagatgatttcaatccaaatactcttactttaaaaaatttcctttccccaagaatctccttgggactttgacttatttttaaagctgtgttggagctcatcttgttccctgatgtgtctcgagcccattggtagggtcatacaaagcccacggttacaagcagtggtaggattgcagccgtgggcctgctggacacacacatacaccaaagatgtatttggatctgggcaccccctcccaggatccctgtactcacgtgccagtctcctgactagagcactttactctgtttcctcagccctgcagcccctgggagcacacactgggtgcagccctgggccaggcacgggaggccctgccctgtgctgcccaggggctgtgtgcaccacatgagcacatttccctctggcctggcggcctccaggctggctgtggaaacagttcctgaggaaattagagattctatgaattgtaggagtattaaagaccaggctgttggcaccagaacttaaagcgatgactggatgtctctgtactgtatgtatctggttatcaagatgcctctgtgcagaaagtatgcctcccgtgggtatacgtttttaccttttttaaaaaacatttttgtagaaaaaataattaaatcccctttttggaaacttactgcaggttttgtgccttgacaacctctccctatgtgaggtttgtaaaaagtgtcctgtgacttaacacagaaacgcaataaacacacacaaaatagtttcatgagtgattcttcagatgcccttcccaactggttagttgatcaagaattttgggggtgggggttgcggagaaatcaagtttaaaattccttctgattaaaaaaatatagtggaatacaattgtctgccgtttccccttcttaatgtatatattgtgagtatttattagattcgtaggtcatattacttatcaactgagccaaatgtctgtgtgcaattgtgtttcctttaccttgtaaaattttgtacagcataaataagtaaaaaaatcactgtttttctcaactttttcaaaatcaaggattgtaaatattgtagattctttttctgtgtgatgtgtcctactgtttcataatgctgtaacttgtagaaatattgtatatttattttctgcttatttaatgtcttaatttctgaaaagtattaacatccctgtctcccactcccctgccgtcccatgaagttaactcctgagagttgtcgggggtgactggagagctcattgcagaccacgtggtcctccagggtggctctccaccttcgggtcctggtatttccagtcaagtgggtttcaattcttgggctttgccgcccttatgatgaagtgtgtgtttgatgccagtgagaaactcagtctggcaggctacaaaattctactccaagaaatacccagcaaccttctgtttgttccaaagcaactagcttatcatgcaagcaaattttgctgactccaggctttatctttaggaaaacaaaaaaaccaaagtattatcagcaggtgggaaagatttttctattgaaaatttatccctgacaactcagcgtttagaaaagaaataaaatgtgccacttccagaggtgctgcattgcagttgttcagggctagggccaggcaggacaagtgaatgggtgggacaggtggctcctgcctaaggaccacctcaggccactaaccccttgtggacaactgtgagtagctgggttttcccccacctgctgtgcaacttcctgtgctttgaggttggactaacttgtcttcaggagctaattaactgtacagccctccccacgccccacccatacggtcactgcatttggtcagcctgcttcttcaggtcgatgccctccttctgatactccatctccttcaggggaggttggggccccactggactgggtgtcaagatgtgaaagcttatgggagctttaaggagacttcatggtggttccatgcaggtggttctgccatccctgctgatttagcctggtgcctgtgtgtgtccactcacgtacacgtggggtgggggaaacgtgtctacagatgacgctaaatcagttggggtctactctaaacagcattgtgtgtaagaagcatcctcaagctcccagttaagtaacttgactacttttatttgggaatttcagactatagaagctctcttatgttttatgtccagattctgtgaccactagttactgtatcagaactcatcaggtacccacttataaatagcactgatctggctgtatactgatccatcactaacctgttttctaggacccagcgtatgtagcatttgtattgcagtttccctggcttacttgtgttttgcactgatgaattttgacagggtaattgccactttacttgtgcaatactgctgtaaataactgcagatttttaaacaatcttttatgttaattttataaaaataaaactttcaactagttaaaaaaa
//
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
This page is licensed under a Creative Commons Attribution 2.1 Japan License.