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2024-04-26 17:36:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001191323 4015 bp mRNA linear PRI 01-JUL-2013
DEFINITION Homo sapiens gremlin 1, DAN family BMP antagonist (GREM1),
transcript variant 2, mRNA.
ACCESSION NM_001191323
VERSION NM_001191323.1 GI:300797327
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 4015)
AUTHORS Peters,U., Jiao,S., Schumacher,F.R., Hutter,C.M., Aragaki,A.K.,
Baron,J.A., Berndt,S.I., Bezieau,S., Brenner,H., Butterbach,K.,
Caan,B.J., Campbell,P.T., Carlson,C.S., Casey,G., Chan,A.T.,
Chang-Claude,J., Chanock,S.J., Chen,L.S., Coetzee,G.A.,
Coetzee,S.G., Conti,D.V., Curtis,K.R., Duggan,D., Edwards,T.,
Fuchs,C.S., Gallinger,S., Giovannucci,E.L., Gogarten,S.M.,
Gruber,S.B., Haile,R.W., Harrison,T.A., Hayes,R.B., Henderson,B.E.,
Hoffmeister,M., Hopper,J.L., Hudson,T.J., Hunter,D.J.,
Jackson,R.D., Jee,S.H., Jenkins,M.A., Jia,W.H., Kolonel,L.N.,
Kooperberg,C., Kury,S., Lacroix,A.Z., Laurie,C.C., Laurie,C.A., Le
Marchand,L., Lemire,M., Levine,D., Lindor,N.M., Liu,Y., Ma,J.,
Makar,K.W., Matsuo,K., Newcomb,P.A., Potter,J.D., Prentice,R.L.,
Qu,C., Rohan,T., Rosse,S.A., Schoen,R.E., Seminara,D.,
Shrubsole,M., Shu,X.O., Slattery,M.L., Taverna,D., Thibodeau,S.N.,
Ulrich,C.M., White,E., Xiang,Y., Zanke,B.W., Zeng,Y.X., Zhang,B.,
Zheng,W. and Hsu,L.
CONSRTM Colon Cancer Family Registry and the Genetics and Epidemiology of
Colorectal Cancer Consortium
TITLE Identification of Genetic Susceptibility Loci for Colorectal Tumors
in a Genome-Wide Meta-analysis
JOURNAL Gastroenterology 144 (4), 799-807 (2013)
PUBMED 23266556
REMARK Review article
REFERENCE 2 (bases 1 to 4015)
AUTHORS Chen,M.H., Yeh,Y.C., Shyr,Y.M., Jan,Y.H., Chao,Y., Li,C.P.,
Wang,S.E., Tzeng,C.H., Chang,P.M., Liu,C.Y., Chen,M.H., Hsiao,M.
and Huang,C.Y.
TITLE Expression of gremlin 1 correlates with increased angiogenesis and
progression-free survival in patients with pancreatic
neuroendocrine tumors
JOURNAL J. Gastroenterol. 48 (1), 101-108 (2013)
PUBMED 22706573
REMARK GeneRIF: Our data support a tumor suppressor role of GREM1 in
pancreatic neuroendocrine tumors.
REFERENCE 3 (bases 1 to 4015)
AUTHORS Leijten,J.C., Emons,J., Sticht,C., van Gool,S., Decker,E.,
Uitterlinden,A., Rappold,G., Hofman,A., Rivadeneira,F.,
Scherjon,S., Wit,J.M., van Meurs,J., van Blitterswijk,C.A. and
Karperien,M.
TITLE Gremlin 1, frizzled-related protein, and Dkk-1 are key regulators
of human articular cartilage homeostasis
JOURNAL Arthritis Rheum. 64 (10), 3302-3312 (2012)
PUBMED 22576962
REMARK GeneRIF: our study identified Gremlin 1, FRP, and Dkk-1 as natural
brakes on hypertrophic differentiation in articular cartilage.
REFERENCE 4 (bases 1 to 4015)
AUTHORS Mulvihill,M.S., Kwon,Y.W., Lee,S., Fang,L.T., Choi,H., Ray,R.,
Kang,H.C., Mao,J.H., Jablons,D. and Kim,I.J.
TITLE Gremlin is overexpressed in lung adenocarcinoma and increases cell
growth and proliferation in normal lung cells
JOURNAL PLoS ONE 7 (8), E42264 (2012)
PUBMED 22870311
REMARK GeneRIF: Lung adenocarcinoma but not squamous cell carcinoma shows
a significant increase in Gremlin expression by mRNA and protein
level. Lung fibroblast and epithelial cell lines transfected with
GREM1 show significantly increased cell proliferation.
REFERENCE 5 (bases 1 to 4015)
AUTHORS Guimei,M., Baddour,N., Elkaffash,D., Abdou,L. and Taher,Y.
TITLE Gremlin in the pathogenesis of hepatocellular carcinoma
complicating chronic hepatitis C: an immunohistochemical and PCR
study of human liver biopsies
JOURNAL BMC Res Notes 5, 390 (2012)
PUBMED 22839096
REMARK GeneRIF: Higher numbers of cirrhosis cases and HCCs showed gremlin
expression, which correlated with the stage. Gremlin expression
correlated with that of CK19 and FGF2 in hepatitis cases
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 4015)
AUTHORS Chen,B., Athanasiou,M., Gu,Q. and Blair,D.G.
TITLE Drm/Gremlin transcriptionally activates p21(Cip1) via a novel
mechanism and inhibits neoplastic transformation
JOURNAL Biochem. Biophys. Res. Commun. 295 (5), 1135-1141 (2002)
PUBMED 12135612
REMARK GeneRIF: Drm/Gremlin transcriptionally activates p21(Cip1) via a
novel mechanism and inhibits neoplastic transformation.
REFERENCE 7 (bases 1 to 4015)
AUTHORS McMahon,R., Murphy,M., Clarkson,M., Taal,M., Mackenzie,H.S.,
Godson,C., Martin,F. and Brady,H.R.
TITLE IHG-2, a mesangial cell gene induced by high glucose, is human
gremlin. Regulation by extracellular glucose concentration, cyclic
mechanical strain, and transforming growth factor-beta1
JOURNAL J. Biol. Chem. 275 (14), 9901-9904 (2000)
PUBMED 10744662
REFERENCE 8 (bases 1 to 4015)
AUTHORS Topol,L.Z., Modi,W.S., Koochekpour,S. and Blair,D.G.
TITLE DRM/GREMLIN (CKTSF1B1) maps to human chromosome 15 and is highly
expressed in adult and fetal brain
JOURNAL Cytogenet. Cell Genet. 89 (1-2), 79-84 (2000)
PUBMED 10894942
REFERENCE 9 (bases 1 to 4015)
AUTHORS Murphy,M., Godson,C., Cannon,S., Kato,S., Mackenzie,H.S., Martin,F.
and Brady,H.R.
TITLE Suppression subtractive hybridization identifies high glucose
levels as a stimulus for expression of connective tissue growth
factor and other genes in human mesangial cells
JOURNAL J. Biol. Chem. 274 (9), 5830-5834 (1999)
PUBMED 10026205
REFERENCE 10 (bases 1 to 4015)
AUTHORS Hsu,D.R., Economides,A.N., Wang,X., Eimon,P.M. and Harland,R.M.
TITLE The Xenopus dorsalizing factor Gremlin identifies a novel family of
secreted proteins that antagonize BMP activities
JOURNAL Mol. Cell 1 (5), 673-683 (1998)
PUBMED 9660951
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK095890.1 and AC090877.4.
Summary: This gene encodes a member of the BMP (bone morphogenic
protein) antagonist family. Like BMPs, BMP antagonists contain
cystine knots and typically form homo- and heterodimers. The CAN
(cerberus and dan) subfamily of BMP antagonists, to which this gene
belongs, is characterized by a C-terminal cystine knot with an
eight-membered ring. The antagonistic effect of the secreted
glycosylated protein encoded by this gene is likely due to its
direct binding to BMP proteins. As an antagonist of BMP, this gene
may play a role in regulating organogenesis, body patterning, and
tissue differentiation. In mouse, this protein has been shown to
relay the sonic hedgehog (SHH) signal from the polarizing region to
the apical ectodermal ridge during limb bud outgrowth.
Alternatively spliced transcript variants encoding different
isoforms have been found for this gene. [provided by RefSeq, Jul
2010].
Transcript Variant: This variant (2) lacks an in-frame segment in
the CDS, as compared to variant 1. The resulting isoform (2) lacks
an internal segment, as compared to isoform 1.
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##
Transcript exon combination :: AK095890.1, DA556356.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025084 [ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-630 AK095890.1 1-630
631-4015 AC090877.4 65795-69179
FEATURES Location/Qualifiers
source 1..4015
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q13.3"
gene 1..4015
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/note="gremlin 1, DAN family BMP antagonist"
/db_xref="GeneID:26585"
/db_xref="HGNC:2001"
/db_xref="MIM:603054"
exon 1..158
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/inference="alignment:Splign:1.39.8"
variation 31
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="c"
/db_xref="dbSNP:370380722"
variation 48
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="g"
/db_xref="dbSNP:35531317"
variation 55
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:35332609"
STS 138..644
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/db_xref="UniSTS:483181"
exon 159..273
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/inference="alignment:Splign:1.39.8"
CDS 160..591
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/note="isoform 2 precursor is encoded by transcript
variant 2; cysteine knot superfamily 1, BMP antagonist 1;
increased in high glucose-2; gremlin-1;
proliferation-inducing gene 2; gremlin 1-like protein; DAN
domain family member 2; increased in high glucose protein
2; cell proliferation-inducing gene 2 protein;
down-regulated in Mos-transformed cells protein; gremlin
1, cysteine knot superfamily, homolog"
/codon_start=1
/product="gremlin-1 isoform 2 precursor"
/protein_id="NP_001178252.1"
/db_xref="GI:300797328"
/db_xref="CCDS:CCDS53927.1"
/db_xref="GeneID:26585"
/db_xref="HGNC:2001"
/db_xref="MIM:603054"
/translation="
MSRTAYTVGALLLLLGTLLPAAEGKKKGSQGAIPPPDKALHVTERKYLKRDWCKTQPLKQTIHEEGCNSRTIINRFCYGQCNSFYIPRHIRKEEGSFQSCSFCKPKKFTTMMVTLNCPELQPPTKKKRVTRVKQCRCISIDLD
"
sig_peptide 160..231
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 232..588
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/product="gremlin-1 isoform 2"
misc_feature 265..588
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/note="DAN domain; Region: DAN; pfam03045"
/db_xref="CDD:217336"
STS 160..591
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/db_xref="UniSTS:481747"
variation 218
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="c"
/db_xref="dbSNP:148668967"
variation 236
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199894051"
variation 262
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="g"
/db_xref="dbSNP:111262341"
exon 274..4015
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/inference="alignment:Splign:1.39.8"
variation 279
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368472880"
variation 301
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:12911221"
variation 343
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370674293"
variation 345
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:78005246"
variation 380
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367676745"
variation 393
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:34096580"
variation 408
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371194430"
variation 427
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145439767"
variation 438
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199522589"
variation 485
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:202104240"
variation 499
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199760237"
variation 572
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368726521"
variation 605
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372399812"
variation 631
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="c"
/db_xref="dbSNP:12915554"
variation 711
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="g"
/db_xref="dbSNP:201006159"
variation 732
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371474885"
variation 791
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:185217380"
variation 815
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:33963919"
variation 830
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="c"
/db_xref="dbSNP:17816260"
variation 834
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="c"
/db_xref="dbSNP:117317622"
variation 850
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143523028"
variation 860
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:137899769"
variation 1007
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143378615"
variation 1075
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:190144321"
variation 1096
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:3743105"
variation 1130
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:3743104"
variation 1152
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="c"
/db_xref="dbSNP:201983195"
variation 1167
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:16957163"
variation 1211
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="g"
/replace="t"
/db_xref="dbSNP:375493301"
variation 1295
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:192905956"
variation 1325
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:183994238"
variation 1373
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="g"
/db_xref="dbSNP:147141645"
variation 1490
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:73376942"
variation 1539
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:28482374"
variation 1549..1550
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace=""
/replace="ag"
/db_xref="dbSNP:139291638"
variation 1581
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="g"
/replace="t"
/db_xref="dbSNP:34498321"
variation 1600
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="g"
/replace="t"
/db_xref="dbSNP:7162202"
variation 1607
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140994982"
variation 1647
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112753078"
variation 1705
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="t"
/db_xref="dbSNP:117841568"
variation 1712
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:17525764"
variation 1790
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="g"
/replace="t"
/db_xref="dbSNP:75058002"
variation 1843
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="g"
/replace="t"
/db_xref="dbSNP:141585953"
variation 1846
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="g"
/replace="t"
/db_xref="dbSNP:188017488"
variation 1912
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:3812933"
variation 1930
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:180926708"
variation 1953
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:17228641"
variation 2023
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373667491"
variation 2031
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="c"
/db_xref="dbSNP:185189241"
variation 2038
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:190577955"
variation 2051
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:150874443"
variation 2094
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="g"
/replace="t"
/db_xref="dbSNP:114181728"
variation 2144
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371240416"
variation 2196
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:60698247"
variation 2273
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="g"
/db_xref="dbSNP:182311272"
variation 2302
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:186962851"
variation 2308
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:16957261"
STS 2309..2438
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/standard_name="RH47687"
/db_xref="UniSTS:53301"
STS 2324..2503
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/standard_name="SHGC-54520"
/db_xref="UniSTS:2239"
variation 2339
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:74011946"
variation 2359
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:115255450"
variation 2365
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139371510"
variation 2466
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:202110695"
variation 2491
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="g"
/db_xref="dbSNP:117202960"
variation 2496
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="g"
/replace="t"
/db_xref="dbSNP:191603802"
variation 2498
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201393123"
variation 2557
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374959412"
variation 2584
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1129488"
variation 2652
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:146588909"
variation 2691
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:182520997"
variation 2732..2734
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace=""
/replace="ttg"
/db_xref="dbSNP:373821879"
variation 2772
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:3743103"
variation 2887
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="g"
/replace="t"
/db_xref="dbSNP:140081414"
variation 2925
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11853876"
variation 2936
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="g"
/replace="t"
/db_xref="dbSNP:146793673"
variation 3007
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141078860"
variation 3039
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373252623"
variation 3054
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143200567"
variation 3060
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="c"
/db_xref="dbSNP:114363828"
variation 3124
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:10318"
variation 3132..3133
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11548035"
variation 3162
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:185751333"
variation 3206
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="g"
/db_xref="dbSNP:369985830"
variation 3304
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="g"
/replace="t"
/db_xref="dbSNP:189731184"
variation 3328
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="g"
/db_xref="dbSNP:373869559"
variation 3433
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:62002611"
variation 3472
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:182180121"
variation 3559
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:73376946"
variation 3564
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:187710735"
variation 3588
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="g"
/replace="t"
/db_xref="dbSNP:193242794"
variation 3639
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200916567"
variation 3701
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="t"
/db_xref="dbSNP:115899948"
STS 3726..3901
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/standard_name="STS-N21113"
/db_xref="UniSTS:59852"
variation 3804
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="g"
/db_xref="dbSNP:151194761"
variation 3812
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1129456"
variation 3879
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="c"
/replace="g"
/db_xref="dbSNP:16957376"
polyA_signal 3990..3995
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
variation 4011
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
/replace="a"
/replace="c"
/db_xref="dbSNP:201134502"
polyA_site 4015
/gene="GREM1"
/gene_synonym="CKTSF1B1; DAND2; DRM; GREMLIN; IHG-2; PIG2"
ORIGIN
actcggtgcgccttccgcggaccgggcgacccagtgcacggccgccgcgtcactctcggtcccgctgaccccgcgccgagccccggcggctctggccgcggccgcactcagcgccacgcgtcgaaagcgcaggccccgaggacccgccgcactgacagtatgagccgcacagcctacacggtgggagccctgcttctcctcttggggaccctgctgccggctgctgaagggaaaaagaaagggtcccaaggtgccatccccccgccagacaaggccctgcatgtgacggagcgcaaatacctgaagcgagactggtgcaaaacccagccgcttaagcagaccatccacgaggaaggctgcaacagtcgcaccatcatcaaccgcttctgttacggccagtgcaactctttctacatccccaggcacatccggaaggaggaaggttcctttcagtcctgctccttctgcaagcccaagaaattcactaccatgatggtcacactcaactgccctgaactacagccacctaccaagaagaagagagtcacacgtgtgaagcagtgtcgttgcatatccatcgatttggattaagccaaatccaggtgcacccagcatgtcctaggaatgcagccccaggaagtcccagacctaaaacaaccagattcttacttggcttaaacctagaggccagaagaacccccagctgcctcctggcaggagcctgcttgtgcgtagttcgtgtgcatgagtgtggatgggtgcctgtgggtgtttttagacaccagagaaaacacagtctctgctagagagcactccctattttgtaaacatatctgctttaatggggatgtaccagaaacccacctcaccccggctcacatctaaaggggcggggccgtggtctggttctgactttgtgtttttgtgccctcctggggaccagaatctcctttcggaatgaatgttcatggaagaggctcctctgagggcaagagacctgttttagtgctgcattcgacatggaaaagtccttttaacctgtgcttgcatcctcctttcctcctcctcctcacaatccatctcttcttaagttgatagtgactatgtcagtctaatctcttgtttgccaaggttcctaaattaattcacttaaccatgatgcaaatgtttttcattttgtgaagaccctccagactctgggagaggctggtgtgggcaaggacaagcaggatagtggagtgagaaagggagggtggagggtgaggccaaatcaggtccagcaaaagtcagtagggacattgcagaagcttgaaaggccaataccagaacacaggctgatgcttctgagaaagtcttttcctagtatttaacagaacccaagtgaacagaggagaaatgagattgccagaaagtgattaactttggccgttgcaatctgctcaaacctaacaccaaactgaaaacataaatactgaccactcctatgttcggacccaagcaagttagctaaaccaaaccaactcctctgctttgtccctcaggtggaaaagagaggtagtttagaactctctgcataggggtgggaattaatcaaaaacctcagaggctgaaattcctaatacctttcctttatcgtggttatagtcagctcatttccattccactatttcccataatgcttctgagagccactaacttgattgataaagatcctgcctctgctgagtgtacctgacagtagtctaagatgagagagtttagggactactctgttttagcaagagatattttgggggtctttttgttttaactattgtcaggagattgggctaaagagaagacgacgagagtaaggaaataaagggaattgcctctggctagagagtagttaggtgttaatacctggtagagatgtaagggatatgacctccctttctttatgtgctcactgaggatctgaggggaccctgttaggagagcatagcatcatgatgtattagctgttcatctgctactggttggatggacataactattgtaactattcagtatttactggtaggcactgtcctctgattaaacttggcctactggcaatggctacttaggattgatctaagggccaaagtgcagggtgggtgaactttattgtactttggatttggttaacctgttttcttcaagcctgaggttttatatacaaactccctgaatactctttttgccttgtatcttctcagcctcctagccaagtcctatgtaatatggaaaacaaacactgcagacttgagattcagttgccgatcaaggctctggcattcagagaacccttgcaactcgagaagctgtttttatttcgtttttgttttgatccagtgctctcccatctaacaactaaacaggagccatttcaaggcgggagatattttaaacacccaaaatgttgggtctgattttcaaacttttaaactcactactgatgattctcacgctaggcgaatttgtccaaacacatagtgtgtgtgttttgtatacactgtatgaccccaccccaaatctttgtattgtccacattctccaacaataaagcacagagtggatttaattaagcacacaaatgctaaggcagaattttgagggtgggagagaagaaaagggaaagaagctgaaaatgtaaaaccacaccagggaggaaaaatgacattcagaaccagcaaacactgaatttctcttgttgttttaactctgccacaagaatgcaatttcgttaacggagatgacttaagttggcagcagtaatcttcttttaggagcttgtaccacagtcttgcacataagtgcagatttggctcaagtaaagagaatttcctcaacactaacttcactgggataatcagcagcgtaactaccctaaaagcatatcactagccaaagagggaaatatctgttcttcttactgtgcctatattaagactagtacaaatgtggtgtgtcttccaactttcattgaaaatgccatatctataccatattttattcgagtcactgatgatgtaatgatatattttttcattattatagtagaatatttttatggcaagatatttgtggtcttgatcatacctattaaaataatgccaaacaccaaatatgaattttatgatgtacactttgtgcttggcattaaaagaaaaaaacacacatcctggaagtctgtaagttgttttttgttactgtaggtcttcaaagttaagagtgtaagtgaaaaatctggaggagaggataatttccactgtgtggaatgtgaatagttaaatgaaaagttatggttatttaatgtaattattacttcaaatcctttggtcactgtgatttcaagcatgttttctttttctcctttatatgactttctctgagttgggcaaagaagaagctgacacaccgtatgttgttagagtcttttatctggtcaggggaaacaaaatcttgacccagctgaacatgtcttcctgagtcagtgcctgaatctttattttttaaattgaatgttccttaaaggttaacatttctaaagcaatattaagaaagactttaaatgttattttggaagacttacgatgcatgtatacaaacgaatagcagataatgatgactagttcacacataaagtccttttaaggagaaaatctaaaatgaaaagtggataaacagaacatttataagtgatcagttaatgcctaagagtgaaagtagttctattgacattcctcaagatatttaatatcaactgcattatgtattatgtctgcttaaatcatttaaaaacggcaaagaattatatagactatgaggtaccttgctgtgtaggaggatgaaaggggagttgatagtctcataaaactaatttggcttcaagtttcatgaatctgtaactagaatttaattttcaccccaataatgttctatatagcctttgctaaagagcaactaataaattaaacctattctttctgtg
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:26585 -> Molecular function: GO:0005125 [cytokine activity] evidence: IEA
GeneID:26585 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:26585 -> Molecular function: GO:0016015 [morphogen activity] evidence: ISS
GeneID:26585 -> Molecular function: GO:0030296 [protein tyrosine kinase activator activity] evidence: IEA
GeneID:26585 -> Molecular function: GO:0036122 [BMP binding] evidence: ISS
GeneID:26585 -> Molecular function: GO:0043184 [vascular endothelial growth factor receptor 2 binding] evidence: ISS
GeneID:26585 -> Molecular function: GO:0048018 [receptor agonist activity] evidence: ISS
GeneID:26585 -> Biological process: GO:0000902 [cell morphogenesis] evidence: IDA
GeneID:26585 -> Biological process: GO:0001658 [branching involved in ureteric bud morphogenesis] evidence: IEA
GeneID:26585 -> Biological process: GO:0002042 [cell migration involved in sprouting angiogenesis] evidence: ISS
GeneID:26585 -> Biological process: GO:0002092 [positive regulation of receptor internalization] evidence: ISS
GeneID:26585 -> Biological process: GO:0003257 [positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation] evidence: ISS
GeneID:26585 -> Biological process: GO:0003337 [mesenchymal to epithelial transition involved in metanephros morphogenesis] evidence: IEA
GeneID:26585 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:26585 -> Biological process: GO:0007267 [cell-cell signaling] evidence: IEA
GeneID:26585 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: IDA
GeneID:26585 -> Biological process: GO:0009954 [proximal/distal pattern formation] evidence: IEA
GeneID:26585 -> Biological process: GO:0010717 [regulation of epithelial to mesenchymal transition] evidence: IMP
GeneID:26585 -> Biological process: GO:0030199 [collagen fibril organization] evidence: IMP
GeneID:26585 -> Biological process: GO:0030308 [negative regulation of cell growth] evidence: IEA
GeneID:26585 -> Biological process: GO:0030326 [embryonic limb morphogenesis] evidence: IEA
GeneID:26585 -> Biological process: GO:0030502 [negative regulation of bone mineralization] evidence: IMP
GeneID:26585 -> Biological process: GO:0030514 [negative regulation of BMP signaling pathway] evidence: IDA
GeneID:26585 -> Biological process: GO:0030514 [negative regulation of BMP signaling pathway] evidence: IMP
GeneID:26585 -> Biological process: GO:0032872 [regulation of stress-activated MAPK cascade] evidence: ISS
GeneID:26585 -> Biological process: GO:0033689 [negative regulation of osteoblast proliferation] evidence: IMP
GeneID:26585 -> Biological process: GO:0042346 [positive regulation of NF-kappaB import into nucleus] evidence: IEA
GeneID:26585 -> Biological process: GO:0045766 [positive regulation of angiogenesis] evidence: IEA
GeneID:26585 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IEA
GeneID:26585 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: ISS
GeneID:26585 -> Biological process: GO:0046851 [negative regulation of bone remodeling] evidence: IMP
GeneID:26585 -> Biological process: GO:0048263 [determination of dorsal identity] evidence: IMP
GeneID:26585 -> Biological process: GO:0051092 [positive regulation of NF-kappaB transcription factor activity] evidence: IEA
GeneID:26585 -> Biological process: GO:0051893 [regulation of focal adhesion assembly] evidence: IEA
GeneID:26585 -> Biological process: GO:0051973 [positive regulation of telomerase activity] evidence: IDA
GeneID:26585 -> Biological process: GO:0060394 [negative regulation of pathway-restricted SMAD protein phosphorylation] evidence: IDA
GeneID:26585 -> Biological process: GO:0060676 [ureteric bud formation] evidence: IEA
GeneID:26585 -> Biological process: GO:0072331 [signal transduction by p53 class mediator] evidence: ISS
GeneID:26585 -> Biological process: GO:0090027 [negative regulation of monocyte chemotaxis] evidence: ISS
GeneID:26585 -> Biological process: GO:0090090 [negative regulation of canonical Wnt receptor signaling pathway] evidence: IDA
GeneID:26585 -> Biological process: GO:0090190 [positive regulation of branching involved in ureteric bud morphogenesis] evidence: IEA
GeneID:26585 -> Biological process: GO:0090191 [negative regulation of branching involved in ureteric bud morphogenesis] evidence: IEA
GeneID:26585 -> Biological process: GO:0090291 [negative regulation of osteoclast proliferation] evidence: IMP
GeneID:26585 -> Biological process: GO:1900086 [positive regulation of peptidyl-tyrosine autophosphorylation] evidence: ISS
GeneID:26585 -> Biological process: GO:1900155 [negative regulation of bone trabecula formation] evidence: IMP
GeneID:26585 -> Biological process: GO:1900158 [negative regulation of bone mineralization involved in bone maturation] evidence: IMP
GeneID:26585 -> Biological process: GO:2000727 [positive regulation of cardiac muscle cell differentiation] evidence: ISS
GeneID:26585 -> Cellular component: GO:0005615 [extracellular space] evidence: NAS
GeneID:26585 -> Cellular component: GO:0009986 [cell surface] evidence: IEA
by
@meso_cacase at
DBCLS
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