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2024-04-19 17:29:00, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_199344 880 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens SFT2 domain containing 2 (SFT2D2), mRNA.
ACCESSION NM_199344 XM_351305
VERSION NM_199344.2 GI:170784805
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 880)
AUTHORS Ehret,G.B., O'Connor,A.A., Weder,A., Cooper,R.S. and Chakravarti,A.
TITLE Follow-up of a major linkage peak on chromosome 1 reveals
suggestive QTLs associated with essential hypertension: GenNet
study
JOURNAL Eur. J. Hum. Genet. 17 (12), 1650-1657 (2009)
PUBMED 19536175
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 2 (bases 1 to 880)
AUTHORS Cheung,C.L., Chan,B.Y., Chan,V., Ikegawa,S., Kou,I., Ngai,H.,
Smith,D., Luk,K.D., Huang,Q.Y., Mori,S., Sham,P.C. and Kung,A.W.
TITLE Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible
genetic association with bone mineral density variation
JOURNAL Hum. Mol. Genet. 18 (4), 679-687 (2009)
PUBMED 19064610
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 3 (bases 1 to 880)
AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
Dunham,I., Hill,D.E. and Vidal,M.
TITLE hORFeome v3.1: a resource of human open reading frames representing
over 10,000 human genes
JOURNAL Genomics 89 (3), 307-315 (2007)
PUBMED 17207965
REFERENCE 4 (bases 1 to 880)
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
AK290325.1 and BC068098.1.
On Mar 26, 2008 this sequence version replaced gi:40786407.
##Evidence-Data-START##
Transcript exon combination :: BC068098.1, BQ882680.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-4 AK290325.1 1-4
5-880 BC068098.1 1-876
FEATURES Location/Qualifiers
source 1..880
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q24.2"
gene 1..880
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/note="SFT2 domain containing 2"
/db_xref="GeneID:375035"
/db_xref="HGNC:25140"
/db_xref="HPRD:14192"
exon 1..126
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/inference="alignment:Splign:1.39.8"
variation 11
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="g"
/db_xref="dbSNP:138834549"
misc_feature 31..33
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/note="upstream in-frame stop codon"
variation 44
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="g"
/db_xref="dbSNP:149372218"
variation 53
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="a"
/replace="c"
/db_xref="dbSNP:188603804"
variation 62
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:202090328"
CDS 64..546
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/note="SFT2 domain-containing protein 2"
/codon_start=1
/product="vesicle transport protein SFT2B"
/protein_id="NP_955376.1"
/db_xref="GI:40786408"
/db_xref="CCDS:CCDS1271.1"
/db_xref="GeneID:375035"
/db_xref="HGNC:25140"
/db_xref="HPRD:14192"
/translation="
MDKLKKVLSGQDTEDRSGLSEVVEASSLSWSTRIKGFIACFAIGILCSLLGTVLLWVPRKGLHLFAVFYTFGNIASIGSTIFLMGPVKQLKRMFEPTRLIATIMVLLCFALTLCSAFWWHNKGLALIFCILQSLALTWYSLSFIPFARDAVKKCFAVCLA
"
misc_feature 88..90
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O95562.1); phosphorylation site"
misc_feature 172..234
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95562.1);
transmembrane region"
misc_feature 187..528
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/note="Got1/Sft2-like family; Region: Got1; pfam04178"
/db_xref="CDD:202918"
misc_feature 253..315
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95562.1);
transmembrane region"
misc_feature 358..420
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95562.1);
transmembrane region"
misc_feature 433..495
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95562.1);
transmembrane region"
variation 69
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:139098348"
variation 73
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="a"
/replace="c"
/db_xref="dbSNP:201418769"
variation 81
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="g"
/db_xref="dbSNP:148619520"
variation 90
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:146761972"
variation 109
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:140315396"
variation 114
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:144712503"
exon 127..213
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/inference="alignment:Splign:1.39.8"
variation 129
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:146498468"
variation 130
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="a"
/replace="g"
/db_xref="dbSNP:371267267"
variation 157
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="a"
/replace="c"
/db_xref="dbSNP:61744540"
variation 180
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="a"
/replace="g"
/db_xref="dbSNP:78134098"
variation 206
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:187251920"
exon 214..299
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/inference="alignment:Splign:1.39.8"
variation 224
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:150546285"
variation 232
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="a"
/replace="g"
/db_xref="dbSNP:368001850"
variation 234
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="g"
/replace="t"
/db_xref="dbSNP:199767613"
variation 243
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="g"
/db_xref="dbSNP:150226246"
variation 258
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:148933332"
variation 260
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:138542621"
variation 284
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="g"
/replace="t"
/db_xref="dbSNP:367848045"
variation 285
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:147297269"
exon 300..381
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/inference="alignment:Splign:1.39.8"
variation 355
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:140922912"
exon 382..417
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/inference="alignment:Splign:1.39.8"
exon 418..476
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/inference="alignment:Splign:1.39.8"
variation 443
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:141672157"
variation 455
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:369465840"
variation 459
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="g"
/replace="t"
/db_xref="dbSNP:139446674"
variation 473
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:377708868"
exon 477..506
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/inference="alignment:Splign:1.39.8"
exon 507..856
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/inference="alignment:Splign:1.39.8"
variation 518
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="a"
/replace="t"
/db_xref="dbSNP:200969601"
variation 524
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="g"
/db_xref="dbSNP:374630156"
variation 531
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:201548427"
variation 550
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="a"
/replace="t"
/db_xref="dbSNP:185876328"
variation 554
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:149604829"
STS 567..824
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/standard_name="RH70401"
/db_xref="UniSTS:20759"
STS 605..714
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/standard_name="A010B09"
/db_xref="UniSTS:56732"
STS 605..714
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/standard_name="G33068"
/db_xref="UniSTS:117644"
variation 612
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:146166038"
variation 651
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="a"
/replace="g"
/db_xref="dbSNP:74121080"
variation 657
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:140180461"
variation 681
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="a"
/replace="g"
/db_xref="dbSNP:113518557"
variation 682
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="a"
/replace="g"
/db_xref="dbSNP:59256452"
variation 706
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="t"
/db_xref="dbSNP:143617355"
variation 800
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="g"
/db_xref="dbSNP:78404728"
variation 828
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="c"
/replace="g"
/db_xref="dbSNP:7551293"
variation 844
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="g"
/replace="t"
/db_xref="dbSNP:188989436"
variation 847
/gene="SFT2D2"
/gene_synonym="dJ747L4.C1.2; RP4-747L4.1; UNQ512"
/replace="a"
/replace="g"
/db_xref="dbSNP:115649124"
ORIGIN
gtcaacttagcgagcgcaacaggctgccgctgaggagctggagctggtggggactgggccgcaatggacaagctgaagaaggtgctgagcgggcaggacacggaggaccggagcggcctgtccgaggttgttgaggcatcttcattaagctggagtaccaggataaaaggcttcattgcgtgttttgctataggaattctctgctcactgctgggtactgttctgctgtgggtgcccaggaagggactacacctcttcgcagtgttttatacctttggtaatatcgcatcaattgggagtaccatcttcctcatgggaccagtgaaacagctgaagcgaatgtttgagcctactcgtttgattgcaactatcatggtgctgttgtgttttgcacttaccctgtgttctgccttttggtggcataacaagggacttgcacttatcttctgcattttgcagtctttggcattgacgtggtacagcctttccttcataccatttgcaagggatgctgtgaagaagtgttttgccgtgtgtcttgcataattcatggccagttttatgaagctttggaaggcactatggacagaagctggtggacagttttgtaactatcttcgaaacctctgtcttacagacatgtgccttttatcttgcagcaatgtgttgcttgtgattcgaacatttgagggttacttttggaagcaacaatacattctcgaacctgaatgtcagtagcacaggatgagaagtgggttctgtatcttgtggagtggaatcttcctcatgtacctgtttcctctctggatgttgtcccactgaattcccatgaatacaaacctattcagcaacagcaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:375035 -> Biological process: GO:0015031 [protein transport] evidence: IEA
GeneID:375035 -> Biological process: GO:0016192 [vesicle-mediated transport] evidence: IEA
GeneID:375035 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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