GREM1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GREM1 (HGNC:2001) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
gremlin 1, DAN family BMP antagonist
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CKTSF1B1, CRAC1
Alias symbols
DRM, gremlin, DAND2, HMPS
%HI
2.63(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.23(Read more about gnomAD pLI score)
LOEUF
0.86(Read more about gnomAD LOEUF score)
Cytoband
15q13.3
Genomic Coordinates
GRCh37/hg19: chr15:33010205-33037307 NCBI Ensembl UCSC
GRCh38/hg38: chr15:32718004-32745106 NCBI Ensembl UCSC
MANE Select Transcript
NM_013372.7 ENST00000651154.1 (Read more about MANE Select)
Function
Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as a BMP antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop. Down-regulates the BMP4 signaling in a dose-dependent manner (By similarity). Antagonist of BMP2; inhibits BMP2-mediated differentiation of osteoblasts (in vitro) (PubMed:27036124). Acts as inhibitor of monocyte chemotaxis. Can inhibit the growth or viability of normal cells but not tra... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7891
ClinGen Curation ID:
CCID:007247
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/20/2020

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
no evidence for haploinsufficiency

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Published Evidence:
TS Evidence Comments:
Although a duplication in exons 3-6 of SCG5 is shown in multiple publications to cause GREM1 increased expression and segregate with colorectal cancer and polyps, as well as interpreted as "Strong" evidence for gene-disease validity in the ClinGen Hereditary Colon Cancer Gene curation group, there is currently no evidence of a whole gene duplication of GREM1 causing a similar phenotype. Based on this, the triplosensitivity of GREM1 is scored as 0. Below are referenced publications on the upstream duplication of exons in SCG5 in relation to GREM1. PMID:26493165 Rohlin et al 2016 describes a family (non-Ashkenazi descent) with a duplication in a gene upstream of GREM1 (SCG5 Exons 3-6), where one carrier was affected with Colorectal Cancer and 6 carriers were affected with colorectal polyps (to such an extent 3 of the 6 received colectomies). PMID:21128281 Venkatachalam et al (2011) describes a 35yo patient with CRC and carrying a duplication in a gene upstream of GREM1 (SCG5 Exons 3-6). The patient has a first degree relative with Colorectal Cancer. PMID:22561515 Jager et al (2012) identifies three families from Ashkenazi or Ashkenazi - descendent lineage, with duplications upstream in SCG5 Exons 3-6 and a history of colorectal adenomas (affected is defined as 3 or more). The initial publication of a large family bearing this same duplication but not as granularly mapped is PMID:12696020 Jaeger et al 2003. The authors include experimental data showing significantly increased expression of GREM1 in normal epithelium and unaffected expression of SCG5.

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)