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2024-04-25 22:37:35, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_014394 2449 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens growth hormone inducible transmembrane protein
(GHITM), mRNA.
ACCESSION NM_014394
VERSION NM_014394.2 GI:118200355
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 2449)
AUTHORS Zhang,X., Yang,H., Lee,J.J., Kim,E., Lippman,S.M., Khuri,F.R.,
Spitz,M.R., Lotan,R., Hong,W.K. and Wu,X.
TITLE MicroRNA-related genetic variations as predictors for risk of
second primary tumor and/or recurrence in patients with early-stage
head and neck cancer
JOURNAL Carcinogenesis 31 (12), 2118-2123 (2010)
PUBMED 20819778
REMARK GeneRIF: Observational study of gene-disease association and
gene-gene interaction. (HuGE Navigator)
REFERENCE 2 (bases 1 to 2449)
AUTHORS Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
TITLE Genetic variants in nuclear-encoded mitochondrial genes influence
AIDS progression
JOURNAL PLoS ONE 5 (9), E12862 (2010)
PUBMED 20877624
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 3 (bases 1 to 2449)
AUTHORS Zhou,J., Zhu,T., Hu,C., Li,H., Chen,G., Xu,G., Wang,S., Zhou,J. and
Ma,D.
TITLE Comparative genomics and function analysis on BI1 family
JOURNAL Comput Biol Chem 32 (3), 159-162 (2008)
PUBMED 18440869
REMARK GeneRIF: The tmbim5 may participate in cell death regulation by
interacting with proteins of Bcl-2 family, promoting tumor
metastasis, which is deduced from the evolutionary conservation of
the membrane protein family containing multiple membrane spanning
segments
REFERENCE 4 (bases 1 to 2449)
AUTHORS Oka,T., Sayano,T., Tamai,S., Yokota,S., Kato,H., Fujii,G. and
Mihara,K.
TITLE Identification of a novel protein MICS1 that is involved in
maintenance of mitochondrial morphology and apoptotic release of
cytochrome c
JOURNAL Mol. Biol. Cell 19 (6), 2597-2608 (2008)
PUBMED 18417609
REMARK GeneRIF: MICS1 individually functions in mitochondrial morphology
and cytochrome c release.
REFERENCE 5 (bases 1 to 2449)
AUTHORS Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
TITLE A scan of chromosome 10 identifies a novel locus showing strong
association with late-onset Alzheimer disease
JOURNAL Am. J. Hum. Genet. 78 (1), 78-88 (2006)
PUBMED 16385451
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (bases 1 to 2449)
AUTHORS Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
TITLE The DNA sequence and comparative analysis of human chromosome 10
JOURNAL Nature 429 (6990), 375-381 (2004)
PUBMED 15164054
REFERENCE 7 (bases 1 to 2449)
AUTHORS Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
TITLE The secreted protein discovery initiative (SPDI), a large-scale
effort to identify novel human secreted and transmembrane proteins:
a bioinformatics assessment
JOURNAL Genome Res. 13 (10), 2265-2270 (2003)
PUBMED 12975309
REMARK Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AL603756.8, BC010354.1 and AC022389.9.
On Nov 22, 2006 this sequence version replaced gi:7657479.
##Evidence-Data-START##
Transcript exon combination :: AF078863.1, AL136713.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-130 AL603756.8 30596-30725
131-2068 BC010354.1 2-1939
2069-2449 AC022389.9 11589-11969
FEATURES Location/Qualifiers
source 1..2449
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q23.1"
gene 1..2449
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/note="growth hormone inducible transmembrane protein"
/db_xref="GeneID:27069"
/db_xref="HGNC:17281"
exon 1..165
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="alignment:Splign:1.39.8"
variation 67
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="t"
/db_xref="dbSNP:7923369"
variation 75
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="t"
/db_xref="dbSNP:3829861"
variation 119
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371944147"
variation 133
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:180964266"
variation 163
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="g"
/replace="t"
/db_xref="dbSNP:1136944"
exon 166..333
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="alignment:Splign:1.39.8"
variation 173
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="g"
/db_xref="dbSNP:199896193"
misc_feature 184..186
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/note="upstream in-frame stop codon"
variation 201
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="g"
/db_xref="dbSNP:370207459"
CDS 205..1242
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/note="mitochondrial morphology and cristae structure 1;
transmembrane BAX inhibitor motif containing 5; dermal
papilla-derived protein 2; transmembrane BAX inhibitor
motif-containing protein 5"
/codon_start=1
/product="growth hormone-inducible transmembrane protein"
/protein_id="NP_055209.2"
/db_xref="GI:118200356"
/db_xref="CCDS:CCDS41542.1"
/db_xref="GeneID:27069"
/db_xref="HGNC:17281"
/translation="
MLAARLVCLRTLPSRVFHPAFTKASPVVKNSITKNQWLLTPSREYATKTRIGIRRGRTGQELKEAALEPSMEKIFKIDQMGRWFVAGGAAVGLGALCYYGLGLSNEIGAIEKAVIWPQYVKDRIHSTYMYLAGSIGLTALSAIAISRTPVLMNFMMRGSWVTIGVTFAAMVGAGMLVRSIPYDQSPGPKHLAWLLHSGVMGAVVAPLTILGGPLLIRAAWYTAGIVGGLSTVAMCAPSEKFLNMGAPLGVGLGLVFVSSLGSMFLPPTTVAGATLYSVAMYGGLVLFSMFLLYDTQKVIKRAEVSPMYGVQKYDPINSMLSIYMDTLNIFMRVATMLATGGNRKK
"
transit_peptide 205..336
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="non-experimental evidence, no additional
details recorded"
/note="Mitochondrion (Probable); propagated from
UniProtKB/Swiss-Prot (Q9H3K2.2)"
misc_feature 217..756
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/note="Bax inhibitor 1 like; Region: BaxI_1; pfam12811"
/db_xref="CDD:193287"
mat_peptide 337..1239
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/product="Growth hormone-inducible transmembrane protein"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9H3K2.2)"
misc_feature 451..513
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9H3K2.2);
transmembrane region"
misc_feature 514..1236
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/note="Growth-hormone inducible transmembrane protein;
Region: GHITM; cd10431"
/db_xref="CDD:198413"
misc_feature 580..642
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9H3K2.2);
transmembrane region"
misc_feature 682..744
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9H3K2.2);
transmembrane region"
misc_feature 775..837
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9H3K2.2);
transmembrane region"
misc_feature 844..906
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9H3K2.2);
transmembrane region"
misc_feature 937..999
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9H3K2.2);
transmembrane region"
misc_feature 1018..1080
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9H3K2.2);
transmembrane region"
variation 222
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:373805264"
variation 223
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:367951814"
variation 262
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="g"
/db_xref="dbSNP:371818663"
variation 302
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:199600489"
variation 311
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:202073747"
variation 313
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368370022"
STS 329..495
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/standard_name="D10S1287E"
/db_xref="UniSTS:151322"
exon 334..433
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="alignment:Splign:1.39.8"
variation 356
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:183418384"
variation 365
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:200725515"
variation 384
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="t"
/db_xref="dbSNP:200682505"
variation 387
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="c"
/db_xref="dbSNP:373003612"
variation 400
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:377265995"
variation 402
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="t"
/db_xref="dbSNP:146877821"
variation 414
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:35567829"
exon 434..545
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="alignment:Splign:1.39.8"
variation 475
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370349475"
variation 507
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:74697595"
variation 542
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:371118008"
exon 546..687
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="alignment:Splign:1.39.8"
variation 549
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:370581416"
variation 556
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:193197284"
variation 590
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:374016567"
variation 631
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:199938868"
variation 632
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368204648"
variation 647
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:185114084"
variation 648
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368496790"
variation 662
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="c"
/db_xref="dbSNP:189428106"
variation 683
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="g"
/db_xref="dbSNP:113970915"
exon 688..796
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="alignment:Splign:1.39.8"
variation 691
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371979234"
variation 732
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:375318573"
variation 750
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:369313195"
variation 754..755
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace=""
/replace="c"
/db_xref="dbSNP:34765536"
variation 767
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:11550184"
exon 797..985
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="alignment:Splign:1.39.8"
variation 841
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:202111722"
variation 912
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201995209"
variation 954
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370254416"
variation 966
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:374622091"
variation 967
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:377523783"
variation 982
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:377733810"
exon 986..1157
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="alignment:Splign:1.39.8"
variation 1011
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="g"
/db_xref="dbSNP:374633446"
variation 1027
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200385037"
STS 1034..1237
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/standard_name="RH141018"
/db_xref="UniSTS:223018"
variation 1039
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="g"
/replace="t"
/db_xref="dbSNP:201822789"
variation 1042
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201409514"
variation 1047
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:371326384"
variation 1057
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:375934721"
variation 1080
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:369199203"
variation 1103
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371764167"
variation 1104
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:188887322"
variation 1114
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:369560843"
variation 1116
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:147214750"
STS 1149..1304
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/standard_name="SHGC-167"
/db_xref="UniSTS:28561"
variation 1152
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:11550182"
exon 1158..2449
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/inference="alignment:Splign:1.39.8"
variation 1170
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200970848"
variation 1177
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:143660911"
STS 1199..1344
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/standard_name="D10S2359"
/db_xref="UniSTS:78712"
variation 1212
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:111408234"
variation 1221
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:375289822"
variation 1239
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:377616706"
variation 1250
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="g"
/db_xref="dbSNP:370860854"
variation 1256
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="c"
/db_xref="dbSNP:375275128"
variation 1281..1282
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace=""
/replace="ctta"
/db_xref="dbSNP:372180919"
variation 1323
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:11550183"
variation 1331
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:191920969"
variation 1377
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:181016088"
variation 1403
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="t"
/db_xref="dbSNP:1064705"
variation 1406
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="g"
/replace="t"
/db_xref="dbSNP:1141863"
variation 1409
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="g"
/replace="t"
/db_xref="dbSNP:1141864"
variation 1421
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="c"
/db_xref="dbSNP:1137056"
variation 1423
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1137057"
variation 1429
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="c"
/db_xref="dbSNP:1137059"
variation 1522
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:374071585"
variation 1534
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="g"
/db_xref="dbSNP:373611275"
variation 1665
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:75526201"
variation 1744
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="c"
/db_xref="dbSNP:7576"
variation 1756
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:374249365"
STS 1803..1927
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/standard_name="A001T01"
/db_xref="UniSTS:56644"
STS 1803..1927
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/standard_name="G19610"
/db_xref="UniSTS:56643"
variation 1812
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="t"
/db_xref="dbSNP:185835541"
variation 1813
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:139674609"
variation 1855
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="g"
/db_xref="dbSNP:191474020"
variation 1872
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:144438512"
variation 1883
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371661253"
STS 1919..2045
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/standard_name="WI-18665"
/db_xref="UniSTS:51039"
variation 1965
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:182386711"
variation 1982
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:187364930"
variation 2009
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="c"
/db_xref="dbSNP:373515781"
variation 2164
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:12219287"
variation 2181
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="g"
/db_xref="dbSNP:115258747"
variation 2339
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="t"
/db_xref="dbSNP:190684339"
variation 2427
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="a"
/replace="g"
/db_xref="dbSNP:200657588"
variation 2447
/gene="GHITM"
/gene_synonym="DERP2; HSPC282; MICS1; My021; PTD010;
TMBIM5"
/replace="c"
/replace="g"
/db_xref="dbSNP:146633668"
ORIGIN
agtgtggccgcttttccgacagaggcctgcccgtgattggctgctcgtactatttacgtcctttcgatgttgcgtcatgcagtgcgccggaggaactgtgctctttgaggccgacgctaggggcccggaagggaaactgcgaggcgaaggtgaccggggaccgagcatttcagatctgctcggtagacctggtgcaccaccaccatgttggctgcaaggctggtgtgtctccggacactaccttctagggttttccacccagctttcaccaaggcctcccctgttgtgaagaattccatcacgaagaatcaatggctgttaacacctagcagggaatatgccaccaaaacaagaattgggatccggcgtgggagaactggccaagaactcaaagaggcagcattggaaccatcgatggaaaaaatatttaaaattgatcagatgggaagatggtttgttgctggaggggctgctgttggtcttggagcattgtgctactatggcttgggactgtctaatgagattggagctattgaaaaggctgtaatttggcctcagtatgtcaaggatagaattcattccacctatatgtacttagcagggagtattggtttaacagctttgtctgccatagcaatcagcagaacgcctgttctcatgaacttcatgatgagaggctcttgggtgacaattggtgtgacctttgcagccatggttggagctggaatgctggtacgatcaataccatatgaccagagcccaggcccaaagcatcttgcttggttgctacattctggtgtgatgggtgcagtggtggctcctctgacaatattagggggtcctcttctcatcagagctgcatggtacacagctggcattgtgggaggcctctccactgtggccatgtgtgcgcccagtgaaaagtttctgaacatgggtgcacccctgggagtgggcctgggtctcgtctttgtgtcctcattgggatctatgtttcttccacctaccaccgtggctggtgccactctttactcagtggcaatgtacggtggattagttcttttcagcatgttccttctgtatgatacccagaaagtaatcaagcgtgcagaagtatcaccaatgtatggagttcaaaaatatgatcccattaactcgatgctgagtatctacatggatacattaaatatatttatgcgagttgcaactatgctggcaactggaggcaacagaaagaaatgaagtgactcagcttctggcttctctgctacatcaaatatcttgtttaatggggcagatatgcattaaatagtttgtacaagcagctttcgttgaagtttagaagataagaaacatgtcatcatatttaaatgttccggtaatgtgatgcctcaggtctgcctttttttctggagaataaatgcagtaatcctctcccaaataagcacacacattttcaattctcatgtttgagtgattttaaaatgttttggtgaatgtgaaaactaaagtttgtgtcatgagaatgtaagtcttttttctactttaaaatttagtaggttcactgagtaactaaaatttagcaaacctgtgtttgcatatttttttggagtgcagaatattgtaattaatgtcataagtgatttggagctttggtaaagggaccagagagaaggagtcacctgcagtcttttgtttttttaaatacttagaacttagcacttgtgttattgattagtgaggagccagtaagaaacatctgggtatttggaaacaagtggtcattgttacattcatctgctgaacttaacaaaactgttcatcctgaaacaggcacaggtgatgcattctcctgctgttgcttctcagtgctctctttccaatatagatgtggtcatgtttgacttgtacagaatgttaatcatacagagaatccttgatggaattatatatgtgtgttttacttttgaatgttacaaaaggaaataactttaaaactattctcaagagaaaatattcaaagcatgaaatatgttgctttttccagaatacaaacagtatactcatgattgctaagtgtttttttatttttgcatatttattgaactgtctaattgaatacagcttgctcttgtcacctcttcaagctttcaagcctttatagaaaagcttctttgtggcttacactggaaattatgaaagcagtttttctcctaagacttttggtttctcgcattgcctctcagactaagcactaaaaagcaaagcaaaacagaactagttctgtcttaatgaaatatatcaacccaaaagtgtaatgaggaaaatgcttcattagtttcccctagcagacttttacttctcttacactgctacaccattactttcttgagacatttgtaagttctttgatacagaagagttatatttagaagtctttaatgaaggg
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:27069 -> Molecular function: GO:0003674 [molecular_function] evidence: ND
GeneID:27069 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:27069 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:27069 -> Biological process: GO:0008150 [biological_process] evidence: ND
GeneID:27069 -> Cellular component: GO:0005743 [mitochondrial inner membrane] evidence: IEA
GeneID:27069 -> Cellular component: GO:0016021 [integral to membrane] evidence: NAS
by
@meso_cacase at
DBCLS
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