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2024-04-26 15:10:30, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001204109 5127 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11),
transcript variant 14, mRNA.
ACCESSION NM_001204109
VERSION NM_001204109.1 GI:323362964
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 5127)
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 5127)
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 5127)
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 5127)
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 5127)
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 5127)
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 5127)
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 5127)
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 5127)
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 5127)
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,
AY428962.1 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 (14) lacks an internal exon,
contains an alternate internal exon, and differs in the 3' coding
region and UTR, compared to variant 1. The resulting isoform (14)
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 :: AY428962.1 [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
289-906 AY428962.1 1-618
907-5102 AC096670.1 30794-34989 c
5103-5127 AI268146.1 1-25 c
FEATURES Location/Qualifiers
source 1..5127
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q13"
gene 1..5127
/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..711
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/note="isoform 14 is encoded by transcript variant 14;
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 14"
/protein_id="NP_001191038.1"
/db_xref="GI:323362965"
/db_xref="CCDS:CCDS56136.1"
/db_xref="GeneID:10018"
/db_xref="HGNC:994"
/db_xref="MIM:603827"
/translation="
MAKQPSDVSSECDREGRQLQPAERPPQLRPGAPTSLQTEPQGNPEGNHGGEGDSCPHGSPQGPLAPPASPGPFATRSPLFIFMRRSSLLSRSSSGYFSFDTDRSPAPMSCDKSTQTPSPPCQAFNHYLSAMVREIEEVVV
"
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..807
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/inference="alignment:Splign:1.39.8"
exon 808..5120
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/inference="alignment:Splign:1.39.8"
variation 810
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:142125092"
variation 834
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:193171782"
variation 841
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:374405413"
variation 848
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:185078669"
variation 862
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:138706378"
variation 872
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:150291943"
variation 894
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:372164447"
variation 898
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:375598912"
STS 904..1046
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/standard_name="RH99076"
/db_xref="UniSTS:90012"
variation 918
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:200016050"
variation 919
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:202136894"
variation 924
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:376786434"
variation 933
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:73954977"
variation 938
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:10199276"
variation 974
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:111743396"
variation 985
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:7595612"
variation 993
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:12996100"
variation 1014
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:73954978"
variation 1033
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:12989846"
variation 1038
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:114776970"
variation 1131
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:115158848"
variation 1202
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:367628733"
variation 1205
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:116174114"
variation 1242
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:149549441"
variation 1285
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:115106683"
polyA_signal 1287..1292
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
polyA_site 1306
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
variation 1313
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:371903732"
variation 1417
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:72948380"
variation 1443
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:143188267"
variation 1535
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:148236299"
variation 1549
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:141765222"
variation 1574
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:189977826"
variation 1655
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:73954981"
variation 2009
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:77565616"
variation 2146
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:146204948"
variation 2156
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="c"
/db_xref="dbSNP:181241895"
variation 2157
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:139230805"
variation 2162
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:373964210"
variation 2168
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:200499684"
variation 2184..2185
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="t"
/db_xref="dbSNP:68021656"
variation 2210..2211
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="aat"
/db_xref="dbSNP:375483724"
variation 2218
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:142335632"
variation 2236
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:112485457"
variation 2252
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:150522049"
variation 2298
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:74787552"
variation 2376
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:183793167"
variation 2408
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:368175038"
variation 2446
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:13422314"
variation 2482
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:72837819"
variation 2496..2497
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="ta"
/db_xref="dbSNP:113512595"
variation 2586
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:1051222"
variation 2593
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:375194820"
variation 2614
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:149840577"
variation 2641
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:10201912"
variation 2689
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:369746614"
variation 2727
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:6750142"
variation 2728
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:6753785"
variation 2796
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:180695314"
variation 2835
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:144847549"
variation 2884
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:375517063"
variation 2911
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:112845179"
variation 2913
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:111569632"
variation 2966
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:118047556"
variation 3090..3091
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="g"
/db_xref="dbSNP:35247728"
variation 3213
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:148552232"
variation 3214
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:186316334"
variation 3239
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:73954982"
STS 3257..3366
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/standard_name="WI-11737"
/db_xref="UniSTS:72182"
variation 3346
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:145582217"
variation 3351
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:191863875"
variation 3378
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:147688758"
variation 3487..3488
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="a"
/db_xref="dbSNP:377590041"
variation 3544
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:371870358"
variation 3651..3652
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="a"
/db_xref="dbSNP:370249195"
variation 3657
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:182097802"
variation 3662..3663
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="ct"
/db_xref="dbSNP:139489747"
variation 3793
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:186695504"
variation 3927
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:13421457"
variation 3973
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:113315090"
variation 4122
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:142474437"
variation 4142..4143
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="a"
/db_xref="dbSNP:372197396"
variation 4274
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:191596895"
variation 4303
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:76256675"
variation 4359..4360
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="t"
/db_xref="dbSNP:113356382"
variation 4429
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:369475391"
variation 4462
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="g"
/db_xref="dbSNP:151236568"
variation 4469
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:114720778"
variation 4508
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:377665630"
variation 4525
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="t"
/db_xref="dbSNP:73954983"
variation 4550
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:140452150"
variation 4747
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:371052885"
variation 4767
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="g"
/replace="t"
/db_xref="dbSNP:376059878"
variation 4830..4836
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="aacataa"
/db_xref="dbSNP:3833441"
variation 4836..4842
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace=""
/replace="tttatgt"
/db_xref="dbSNP:71801447"
variation 4836
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:200735948"
STS 4870..4992
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/standard_name="RH91369"
/db_xref="UniSTS:85445"
variation 4994
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="a"
/replace="g"
/db_xref="dbSNP:115389757"
variation 5030
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
/replace="c"
/replace="t"
/db_xref="dbSNP:73954984"
polyA_signal 5101..5106
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
polyA_site 5120
/gene="BCL2L11"
/gene_synonym="BAM; BIM; BOD"
ORIGIN
acttcgctccgcgcagccgcctggtctgcagtttgttggagctctgcgtccagcgccgctgccgctgccgccgccgccgccgccgccgccgccgccgccgccgccgccactaccaccacttgattcttgcagccaccctgcgaaccctgccacactgcgatcgcatcatcgcggtattcggttcgctgcgttcccgccgccaccgcctcggcgccctttcttggcccttgttcccccaaatgtctgactctgactctcggactgagaaacgcaagaaaaaaagaccaaatggcaaagcaaccttctgatgtaagttctgagtgtgaccgagaaggtagacaattgcagcctgcggagaggcctccccagctcagacctggggcccctacctccctacagacagagccacaaggtaatcctgaaggcaatcacggaggtgaaggggacagctgcccccacggcagccctcagggcccgctggccccacctgccagccctggcccttttgctaccagatccccgcttttcatctttatgagaagatcctccctgctgtctcgatcctccagtgggtatttctcttttgacacagacaggagcccagcacccatgagttgtgacaaatcaacacaaaccccaagtcctccttgccaggccttcaaccactatctcagtgcaatggttagagaaatagaggaagttgtcgtgtagttgtcatgtattcagtccacttaagggcagtggggaagcgtttgagacggagctgtggaggctgaatccttgaaggaggaggtgagagaggcacaggtatttttgaataattaccaagcagccgaagaccacccacgaatggttatcttacgactgttacgttacattgtccgcctggtgtggagaatgcattgacaggttctttgcggagccgagataccatgcagacattttgcttgttcaaaccaacaagacccagcaccgcggtctcctggtgccattattatgcagccagcggttctcttgtggagggggcaggtgacgtttcagaagacaccgagctggatgggactacctttctgttcatcaccacacagcagaatttctaatggaagtttgttgtgaatgtaaaggagggagcattctttgctttttaatatacaaaccatggttttttggagcaggattttgtgtaagaatggtgtttacatgcagtgtgttttccccctcaccttcaataaggtttttcaaaaaggaaatggaaactttttaaccaatttgtgaataacttttgtattaaaattttaagaacctacggcctattctcagaggattatgtaacccctgcagtggaaactgagccagctaacttaaaaagctgccttagtttatttttagagattacagaatttttaaacagggagacgtgtgatatactccctcccttccctactattgcctctctgacctttttaaattatttttaataccaaaagagttcttttgaaatggaactgattaaaagggcagagggtctgttgccagcctgcattgatataccagtcccatttgtaaatatttacgtacctttataaattcagttgcatctgtggcaaaatttcagactatttttgcgtctttcctcatcactttttgtgatgcaactccagtctggactcagatgcatagatttggtccagtgtattttcatgataaagtgaaattgagtcagaacaagagttaatatctgcctgtatcttgcacagttcgagcgatctgttattaactgggaagcatttggtgttggttttcattccatttcgacgagcatgttattgggaagtattctgaagaggcaatagcagtaataacaacagacttaagtgctacgcccctttgtgctgctggcttttctggttgcaggctttcccatggtcacaggatgcactgtcagcatcaggtcccagagggccaccgtgtccattacagcagagtccagctgcagcatccagctcacgccctcatgggaattggcacaggcctggggcagggcttctgatggccatttgcttggcctcctgcattttagtccaactcacagtccactagcttcactcctttaaattcactttgaaacaggcctcatcccacttccaccagcaccatagaagaataattctgggcagaagtctgttttttttcatttttccaggacagttggatattgtcaggccacttgtgaccccagccatgtagtgagggtgctctttctctgtgcctgctccttatgagtgcagtggaaggaagccacacactggtcagtcatttcagaggcagcagatgcccagggagacccaagaaagagtcaggttagggagcagtgaaagtgaggagggaagacaattctgtgaactctgtaactcttaaaatttttgaaaactccatcgttaaacaacttttaaaagaaataactaaattttcaaatgagtaagcagtgccaccaactagtgttttgcccgatagaagagccagcatgttcacgttatttaaattaggtggaaaaatctaaacatttttatcttcataatttaaaaaatatatatgtatatattgcatattcactttttcctttaggtagagatgatttcaatccaaatactcttactttaaaaaatttcctttccccaagaatctccttgggactttgacttatttttaaagctgtgttggagctcatcttgttccctgatgtgtctcgagcccattggtagggtcatacaaagcccacggttacaagcagtggtaggattgcagccgtgggcctgctggacacacacatacaccaaagatgtatttggatctgggcaccccctcccaggatccctgtactcacgtgccagtctcctgactagagcactttactctgtttcctcagccctgcagcccctgggagcacacactgggtgcagccctgggccaggcacgggaggccctgccctgtgctgcccaggggctgtgtgcaccacatgagcacatttccctctggcctggcggcctccaggctggctgtggaaacagttcctgaggaaattagagattctatgaattgtaggagtattaaagaccaggctgttggcaccagaacttaaagcgatgactggatgtctctgtactgtatgtatctggttatcaagatgcctctgtgcagaaagtatgcctcccgtgggtatacgtttttaccttttttaaaaaacatttttgtagaaaaaataattaaatcccctttttggaaacttactgcaggttttgtgccttgacaacctctccctatgtgaggtttgtaaaaagtgtcctgtgacttaacacagaaacgcaataaacacacacaaaatagtttcatgagtgattcttcagatgcccttcccaactggttagttgatcaagaattttgggggtgggggttgcggagaaatcaagtttaaaattccttctgattaaaaaaatatagtggaatacaattgtctgccgtttccccttcttaatgtatatattgtgagtatttattagattcgtaggtcatattacttatcaactgagccaaatgtctgtgtgcaattgtgtttcctttaccttgtaaaattttgtacagcataaataagtaaaaaaatcactgtttttctcaactttttcaaaatcaaggattgtaaatattgtagattctttttctgtgtgatgtgtcctactgtttcataatgctgtaacttgtagaaatattgtatatttattttctgcttatttaatgtcttaatttctgaaaagtattaacatccctgtctcccactcccctgccgtcccatgaagttaactcctgagagttgtcgggggtgactggagagctcattgcagaccacgtggtcctccagggtggctctccaccttcgggtcctggtatttccagtcaagtgggtttcaattcttgggctttgccgcccttatgatgaagtgtgtgtttgatgccagtgagaaactcagtctggcaggctacaaaattctactccaagaaatacccagcaaccttctgtttgttccaaagcaactagcttatcatgcaagcaaattttgctgactccaggctttatctttaggaaaacaaaaaaaccaaagtattatcagcaggtgggaaagatttttctattgaaaatttatccctgacaactcagcgtttagaaaagaaataaaatgtgccacttccagaggtgctgcattgcagttgttcagggctagggccaggcaggacaagtgaatgggtgggacaggtggctcctgcctaaggaccacctcaggccactaaccccttgtggacaactgtgagtagctgggttttcccccacctgctgtgcaacttcctgtgctttgaggttggactaacttgtcttcaggagctaattaactgtacagccctccccacgccccacccatacggtcactgcatttggtcagcctgcttcttcaggtcgatgccctccttctgatactccatctccttcaggggaggttggggccccactggactgggtgtcaagatgtgaaagcttatgggagctttaaggagacttcatggtggttccatgcaggtggttctgccatccctgctgatttagcctggtgcctgtgtgtgtccactcacgtacacgtggggtgggggaaacgtgtctacagatgacgctaaatcagttggggtctactctaaacagcattgtgtgtaagaagcatcctcaagctcccagttaagtaacttgactacttttatttgggaatttcagactatagaagctctcttatgttttatgtccagattctgtgaccactagttactgtatcagaactcatcaggtacccacttataaatagcactgatctggctgtatactgatccatcactaacctgttttctaggacccagcgtatgtagcatttgtattgcagtttccctggcttacttgtgttttgcactgatgaattttgacagggtaattgccactttacttgtgcaatactgctgtaaataactgcagatttttaaacaatcttttatgttaattttataaaaataaaactttcaactagttaaaaaaa
//
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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