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2024-04-20 13:53:56, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_003217 2885 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens transmembrane BAX inhibitor motif containing 6
(TMBIM6), transcript variant 1, mRNA.
ACCESSION NM_003217
VERSION NM_003217.2 GI:148746208
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 2885)
AUTHORS Sano,R., Hou,Y.C., Hedvat,M., Correa,R.G., Shu,C.W., Krajewska,M.,
Diaz,P.W., Tamble,C.M., Quarato,G., Gottlieb,R.A., Yamaguchi,M.,
Nizet,V., Dahl,R., Thomas,D.D., Tait,S.W., Green,D.R., Fisher,P.B.,
Matsuzawa,S. and Reed,J.C.
TITLE Endoplasmic reticulum protein BI-1 regulates Ca(2)(+)-mediated
bioenergetics to promote autophagy
JOURNAL Genes Dev. 26 (10), 1041-1054 (2012)
PUBMED 22588718
REMARK GeneRIF: The results reveal BI-1 as a novel autophagy regulator
that bridges Ca(2) signaling between ER and mitochondria, reducing
cellular oxygen consumption and contributing to cellular resilience
in the face of metabolic stress.
REFERENCE 2 (bases 1 to 2885)
AUTHORS Carrara,G., Saraiva,N., Gubser,C., Johnson,B.F. and Smith,G.L.
TITLE Six-transmembrane topology for Golgi anti-apoptotic protein (GAAP)
and Bax inhibitor 1 (BI-1) provides model for the transmembrane Bax
inhibitor-containing motif (TMBIM) family
JOURNAL J. Biol. Chem. 287 (19), 15896-15905 (2012)
PUBMED 22418439
REMARK GeneRIF: Data indicate that GAAP and BI-1 have a six
membrane-spanning topology with cytosolic N and C termini and a
C-terminal reentrant loop.
REFERENCE 3 (bases 1 to 2885)
AUTHORS Bultynck,G., Kiviluoto,S., Henke,N., Ivanova,H., Schneider,L.,
Rybalchenko,V., Luyten,T., Nuyts,K., De Borggraeve,W.,
Bezprozvanny,I., Parys,J.B., De Smedt,H., Missiaen,L. and
Methner,A.
TITLE The C terminus of Bax inhibitor-1 forms a Ca2+-permeable channel
pore
JOURNAL J. Biol. Chem. 287 (4), 2544-2557 (2012)
PUBMED 22128171
REMARK GeneRIF: The C terminus of Bax inhibitor-1 forms a Ca2+-permeable
channel pore.
REFERENCE 4 (bases 1 to 2885)
AUTHORS Lee,G.H., Hwang,J.D., Choi,J.Y., Park,H.J., Cho,J.Y., Kim,K.W.,
Chae,H.J. and Kim,H.R.
TITLE An acidic pH environment increases cell death and pro-inflammatory
cytokine release in osteoblasts: the involvement of BAX inhibitor-1
JOURNAL Int. J. Biochem. Cell Biol. 43 (9), 1305-1317 (2011)
PUBMED 21601004
REMARK GeneRIF: expression of BAX inhibitor-1 is associated with acidic
pH-induced calcium release, cell death, and pro-inflammatory
cytokine release in human osteoblasts
REFERENCE 5 (bases 1 to 2885)
AUTHORS Lee,G.H., Kim,D.S., Kim,H.T., Lee,J.W., Chung,C.H., Ahn,T.,
Lim,J.M., Kim,I.K., Chae,H.J. and Kim,H.R.
TITLE Enhanced lysosomal activity is involved in Bax inhibitor-1-induced
regulation of the endoplasmic reticulum (ER) stress response and
cell death against ER stress: involvement of vacuolar H+-ATPase
(V-ATPase)
JOURNAL J. Biol. Chem. 286 (28), 24743-24753 (2011)
PUBMED 21586565
REMARK GeneRIF: highly maintained lysosomal activity may be one of the
mechanisms by which BI-1 exerts its regulatory effects on the ER
stress response and cell death.
REFERENCE 6 (bases 1 to 2885)
AUTHORS Grzmil,M., Thelen,P., Hemmerlein,B., Schweyer,S., Voigt,S., Mury,D.
and Burfeind,P.
TITLE Bax inhibitor-1 is overexpressed in prostate cancer and its
specific down-regulation by RNA interference leads to cell death in
human prostate carcinoma cells
JOURNAL Am. J. Pathol. 163 (2), 543-552 (2003)
PUBMED 12875974
REMARK GeneRIF: Results indicate that the human Bax inhibitor-1 gene may
serve as a prostate cancer expression marker based on its
overexpression in prostate carcinoma and prostate cancer cell
lines.
REFERENCE 7 (bases 1 to 2885)
AUTHORS Jean,J.C., Oakes,S.M. and Joyce-Brady,M.
TITLE The Bax inhibitor-1 gene is differentially regulated in adult
testis and developing lung by two alternative TATA-less promoters
JOURNAL Genomics 57 (2), 201-208 (1999)
PUBMED 10198159
REFERENCE 8 (bases 1 to 2885)
AUTHORS Cowling,R.T. and Birnboim,H.C.
TITLE Preliminary characterization of the protein encoded by human
testis-enhanced gene transcript (TEGT)
JOURNAL Mol. Membr. Biol. 15 (4), 177-187 (1998)
PUBMED 10087504
REFERENCE 9 (bases 1 to 2885)
AUTHORS Xu,Q. and Reed,J.C.
TITLE Bax inhibitor-1, a mammalian apoptosis suppressor identified by
functional screening in yeast
JOURNAL Mol. Cell 1 (3), 337-346 (1998)
PUBMED 9660918
REFERENCE 10 (bases 1 to 2885)
AUTHORS Walter,L., Marynen,P., Szpirer,J., Levan,G. and Gunther,E.
TITLE Identification of a novel conserved human gene, TEGT
JOURNAL Genomics 28 (2), 301-304 (1995)
PUBMED 8530040
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DA476870.1, AK130050.1, BQ613936.1 and AA057740.1.
On Jun 9, 2007 this sequence version replaced gi:4507432.
Transcript Variant: This variant (1) represents the predominant
transcript and it encodes the shorter protein (isoform 1).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK130050.1, BC000916.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-47 DA476870.1 1-47
48-2237 AK130050.1 1-2190
2238-2672 BQ613936.1 3-437 c
2673-2885 AA057740.1 1-213 c
FEATURES Location/Qualifiers
source 1..2885
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q12-q13"
gene 1..2885
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/note="transmembrane BAX inhibitor motif containing 6"
/db_xref="GeneID:7009"
/db_xref="HGNC:11723"
/db_xref="MIM:600748"
exon 1..102
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="alignment:Splign:1.39.8"
variation 23
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:369230632"
variation 58
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="g"
/db_xref="dbSNP:190201743"
misc_feature 76..78
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/note="upstream in-frame stop codon"
variation 79
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="g"
/db_xref="dbSNP:192809317"
exon 103..188
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="alignment:Splign:1.39.8"
variation 119
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:138716941"
variation 125
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:369650185"
CDS 133..846
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/note="isoform 1 is encoded by transcript variant 1;
testis enhanced gene transcript; BAX inhibitor 1;
testis-enhanced gene transcript protein; transmembrane BAX
inhibitor motif-containing protein 6"
/codon_start=1
/product="bax inhibitor 1 isoform 1"
/protein_id="NP_003208.2"
/db_xref="GI:148746209"
/db_xref="CCDS:CCDS31797.1"
/db_xref="GeneID:7009"
/db_xref="HGNC:11723"
/db_xref="MIM:600748"
/translation="
MNIFDRKINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGSLILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLGPALEFCIAVNPSILPTAFMGTAMIFTCFTLSALYARRRSYLFLGGILMSALSLLLLSSLGNVFFGSIWLFQANLYVGLVVMCGFVLFDTQLIIEKAEHGDQDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK
"
misc_feature 178..816
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/note="BAX inhibitor (BI)-1; Region: BI-1; cd10430"
/db_xref="CDD:198412"
misc_feature 220..282
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P55061.2);
transmembrane region"
misc_feature 289..351
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P55061.2);
transmembrane region"
misc_feature 391..453
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P55061.2);
transmembrane region"
misc_feature 469..531
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P55061.2);
transmembrane region"
misc_feature 550..612
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P55061.2);
transmembrane region"
misc_feature 631..693
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P55061.2);
transmembrane region"
variation 148
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="c"
/db_xref="dbSNP:11540527"
variation 167
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="g"
/db_xref="dbSNP:116901253"
variation 168
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:142729233"
variation 187
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:372759702"
exon 189..297
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="alignment:Splign:1.39.8"
variation 191
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="c"
/db_xref="dbSNP:139620601"
variation 194
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:58919844"
variation 195
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:187664134"
variation 198
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:17123924"
variation 244
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:144540561"
variation 264
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:199859302"
variation 275
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:139270926"
exon 298..418
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="alignment:Splign:1.39.8"
STS 316..400
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/standard_name="D12S1129E"
/db_xref="UniSTS:473344"
variation 364
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="g"
/db_xref="dbSNP:186525370"
exon 419..467
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="alignment:Splign:1.39.8"
variation 442
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:369872998"
variation 456
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:200243571"
variation 464
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:61941194"
exon 468..565
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="alignment:Splign:1.39.8"
variation 494
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:144057087"
variation 495
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:4563"
variation 510
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="g"
/db_xref="dbSNP:11540525"
variation 513
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:1802119"
variation 533
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:139819267"
variation 542
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:143158918"
exon 566..645
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="alignment:Splign:1.39.8"
variation 583
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="g"
/db_xref="dbSNP:11540526"
variation 627
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="c"
/db_xref="dbSNP:201404822"
exon 646..746
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="alignment:Splign:1.39.8"
variation 649
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:150261592"
variation 702
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:12310796"
variation 705
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:141700505"
exon 747..822
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="alignment:Splign:1.39.8"
variation 768
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="c"
/db_xref="dbSNP:147064691"
variation 794
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:1802118"
variation 813
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="g"
/replace="t"
/db_xref="dbSNP:373128507"
variation 820
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:377089649"
exon 823..2884
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/inference="alignment:Splign:1.39.8"
variation 836
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:11540520"
variation 865
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:370807894"
variation 869
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:113280849"
variation 880
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="t"
/db_xref="dbSNP:368576424"
variation 896
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:371163791"
variation 925
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:28932169"
variation 1056..1059
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="ctca"
/db_xref="dbSNP:112133089"
variation 1058
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:17123947"
variation 1059..1062
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="actc"
/db_xref="dbSNP:376714994"
variation 1063
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:11540522"
variation 1075
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:74087196"
variation 1094
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="g"
/db_xref="dbSNP:375526408"
variation 1115
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:149823084"
variation 1116
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:145793344"
variation 1139
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:193229068"
variation 1185
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:11540521"
variation 1207..1208
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="accaaa"
/db_xref="dbSNP:148039038"
variation 1220
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:11540524"
variation 1221
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:377472837"
variation 1238
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:7688"
variation 1255
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:376195970"
STS 1295..1434
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/standard_name="RH70154"
/db_xref="UniSTS:11471"
variation 1314
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="c"
/db_xref="dbSNP:3782324"
variation 1361
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="g"
/db_xref="dbSNP:11540523"
variation 1433
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:138542934"
variation 1479
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="g"
/replace="t"
/db_xref="dbSNP:188209222"
variation 1525
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:140221298"
variation 1666
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:77031795"
variation 1674
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="g"
/replace="t"
/db_xref="dbSNP:145607842"
variation 1758
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="g"
/db_xref="dbSNP:148057357"
variation 1885
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:184002835"
variation 1916
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="g"
/replace="t"
/db_xref="dbSNP:188543212"
variation 1989
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="g"
/db_xref="dbSNP:181888694"
variation 2011
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:371280494"
variation 2018
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="g"
/db_xref="dbSNP:373885498"
variation 2033
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:117948747"
variation 2079
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:111798126"
variation 2144..2145
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="g"
/db_xref="dbSNP:3832814"
variation 2147..2148
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="c"
/db_xref="dbSNP:71737393"
variation 2178
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="g"
/replace="t"
/db_xref="dbSNP:185233746"
variation 2186
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:370768170"
variation 2205
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:7297617"
variation 2219
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:190500256"
STS 2283..2370
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/standard_name="D12S1479E"
/db_xref="UniSTS:153932"
variation 2303
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:368008253"
STS 2418..2556
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/standard_name="RH11178"
/db_xref="UniSTS:77017"
variation 2452
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:11540519"
variation 2495..2498
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="cttc"
/db_xref="dbSNP:370219061"
variation 2544
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="c"
/replace="t"
/db_xref="dbSNP:7297969"
variation 2585
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:150562807"
variation 2601..2602
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="a"
/db_xref="dbSNP:3832813"
variation 2607..2608
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="t"
/db_xref="dbSNP:71733416"
variation 2660
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="t"
/db_xref="dbSNP:3210523"
variation 2662..2663
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="a"
/db_xref="dbSNP:370551368"
variation 2665..2666
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="a"
/db_xref="dbSNP:372917963"
variation 2671..2676
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="aagaaa"
/db_xref="dbSNP:77091058"
variation 2672..2673
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="aaaag"
/db_xref="dbSNP:377390174"
variation 2673..2677
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="gaaag"
/db_xref="dbSNP:370800854"
variation 2673..2674
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="a"
/db_xref="dbSNP:71640541"
variation 2673
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:1063466"
variation 2673
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="g"
/db_xref="dbSNP:67548374"
variation 2677
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:58387198"
variation 2677
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="g"
/db_xref="dbSNP:140131076"
variation 2678..2679
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="g"
/db_xref="dbSNP:199853731"
variation 2681..2682
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="a"
/replace="aa"
/db_xref="dbSNP:66898734"
variation 2681
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:199875731"
variation 2683..2684
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="a"
/replace="aaa"
/replace="gaaaaaa"
/replace="t"
/db_xref="dbSNP:62985960"
variation 2688
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="c"
/db_xref="dbSNP:77128574"
variation 2691..2692
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace=""
/replace="a"
/replace="aa"
/db_xref="dbSNP:66527707"
variation 2711
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:1049986"
variation 2824
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:61401764"
variation 2825
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="g"
/db_xref="dbSNP:182479619"
variation 2831
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="a"
/replace="c"
/db_xref="dbSNP:3210539"
variation 2837
/gene="TMBIM6"
/gene_synonym="BAXI1; BI-1; TEGT"
/replace="g"
/replace="t"
/db_xref="dbSNP:187055776"
ORIGIN
gagaggcgaacgccgggtaaaagatcgggagcggaagtgggcgagtcagagcacatccggtgttagaagcgctggtaggccttggagaggcgggttaggaagagtggagactgctgcacggactctggaaccatgaacatatttgatcgaaagatcaactttgatgcgcttttaaaattttctcatataaccccgtcaacgcagcagcacctgaagaaggtctatgcaagttttgccctttgtatgtttgtggcggctgcaggggcctatgtccatatggtcactcatttcattcaggctggcctgctgtctgccttgggctccctgatattgatgatttggctgatggcaacacctcatagccatgaaactgaacagaaaagactgggacttcttgctggatttgcattccttacaggagttggcctgggccctgccctggagttttgtattgctgtcaaccccagcatccttcccactgctttcatgggcacggcaatgatctttacctgcttcaccctcagtgcactctatgccaggcgccgtagctacctctttctgggaggtatcttgatgtcagccctgagcttgttgcttttgtcttccctggggaatgttttctttggatccatttggcttttccaggcaaacctgtatgtgggactggtggtcatgtgtggcttcgtcctttttgatactcaactcattattgaaaaggccgaacatggagatcaagattatatctggcactgcattgatctcttcttagatttcattactgtcttcagaaaactcatgatgatcctggccatgaatgaaaaggataagaagaaagagaagaaatgaagtgaccatccagcctttcccaattagacttcctctccttccacccctcatttcctttttgcacacattacaggtggtgtgttctgtgataatgaaaagcatcagaaaagcttttgtactttgtggtttcctctattttgaattttttgatcaaaaaactgattagcagaatatagtttggagtttggcttcatcttcctggggttcccctcactcccttttttgtcaaccccatctgtagcctcttcctctactcaggcagtcgacccgccacgatgagaagtgggaccagcagagggcgccaacttcaggagtccgctttcccaccaggcttcattcacccagtggacctgaactgtttggtagagccacccggcccttccttcctcattgttgtttggtatgcgcacagttcctgtgggactgggccgtgagttttccattggaaagaagttcagtggtcccattgttaactcagcctcaaatctcaactgtcaggccctacaaagaaaatggagagcctcttctggtggatgctttgctccctctgagctgcccatgctggtctggcaaacacacctttctgctttgccttcacaaaagtaatgtgttccctttcccaccccttgcctgaccctcagggagtcagcctgcttccatccatgggtgggaagacttcagcacaaaggaaagactaattcttgtcaggcatttttgaaaaggctgattatgtgtatcaaggtacagcatcgtagggttcccctaaacttgccctgtttttgtttttttagtttgttatccccttactgagcggcctctactaggtggctgtgattaaatgtcccaagcaaggatagggaaggggaatggttgagcctctggagatcattgtaaccaatcctgccagacctgtttggggcagtggggagcaaacctagataaggacctgtttggggcagcagggagcaaaatctcctttaacaaccaagcagttcctcattcacatcaacagagcgaggctgtgataacttaggaggcagcaatcctaatagtccttcagtgcattttagtctgtctccaactggacaccagtaggtagtgtcaagccagagattcggggcagtagataaatgttcattttactgatgcactttagtttttggtctgttacctgttttccagaaatttgtggccttttaggcgggagttaggcgaccaaaccagtgagagccccaatccctgcagttttgtggcttcaagtgtgggtggacagtcctaatggggatctccagctccttcctgtgggctgccacagacagctacccccagaagggtcaatgttgggagtggttgtggctctgagctgctctacagagcttcagtgtgagaggatcgagccattgaaagctcattaccagtaggacataatttttggctctccctattcacaaccagtgcacagtttgacacagtggcctcaggttcacagtgcaccatgtcactgtgctatcctacgaaatcatttgtttctaagttgtgtttattcctggagtgacatgccaccccgaatggctcactttcactgaggatgctgtcctctgatttagctgctgcctccagcctctggcttgagaacttactaaaggcacttccttcctgttaaacccctgttaactctccataaatttggtgattctctgctaggcctaagattttgagttaacatctcttgaagccaaactccaccttctgtgctttttgcttgggataatggagtttttctttagaaacagtgccaagaatgacaagatattaaaaaaaaaaaagaaagaaaaaaaaaaaaacacctacttttaaagaaaatacctaacagatttttaatatagttatctctaccactttcttttctagtttcttgattttcagctcaggctgcattctaactcatactgtgaagacaaaggtgtttttgattcagaaatatatgaaatctgcatagtcttaatttgtaaaaaataaagaaaattccttaaccttta
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:7009 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:7009 -> Biological process: GO:0006986 [response to unfolded protein] evidence: IEA
GeneID:7009 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IEA
GeneID:7009 -> Cellular component: GO:0005634 [nucleus] evidence: TAS
GeneID:7009 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: TAS
GeneID:7009 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: IEA
GeneID:7009 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: TAS
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@meso_cacase at
DBCLS
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