GREM2 gremlin 2, DAN family BMP antagonist [Homo sapiens (human)] - Gene

Summary

Official Symbol: GREM2provided by HGNC
Official Full Name: gremlin 2, DAN family BMP antagonistprovided by HGNC
Primary source: HGNC:HGNC:17655
See related: Ensembl:ENSG00000180875 MIM:608832; AllianceGenome:HGNC:17655
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PRDC; DAND3; STHAG9; CKTSF1B2
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. [provided by RefSeq, Jul 2008]
Expression: Broad expression in gall bladder (RPKM 20.4), colon (RPKM 11.9) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q43

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (240489573..240612155, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (239900834..240023520, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (240652873..240775455, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MiR-103a-3p Contributes to the Progression of Colorectal Cancer by Regulating GREM2 Expression.
Title: MiR-103a-3p Contributes to the Progression of Colorectal Cancer by Regulating GREM2 Expression.
GREM2 is associated with human central obesity and inhibits visceral preadipocyte browning.
Title: GREM2 is associated with human central obesity and inhibits visceral preadipocyte browning.
Functional characterization of ATF1, GREM2 AND WNT10B variants associated with tooth agenesis.
Title: Functional characterization of ATF1, GREM2 AND WNT10B variants associated with tooth agenesis.
Cancer-associated fibroblast-secreted exosomal miR-423-5p promotes chemotherapy resistance in prostate cancer by targeting GREM2 through the TGF-beta signaling pathway.
Title: Cancer-associated fibroblast-secreted exosomal miR-423-5p promotes chemotherapy resistance in prostate cancer by targeting GREM2 through the TGF-β signaling pathway.
Association of Gremlin-2 gene polymorphisms with osteoporosis risk in Chinese postmenopausal women.
Title: Association of Gremlin-2 gene polymorphisms with osteoporosis risk in Chinese postmenopausal women.
Grem2 increased the phosphorylation of Smad2/3 and decreased the phosphorylation of Smad1/5/8
Title: Grem2 mediates podocyte apoptosis in high glucose milieu.
Significant associations were found between individual SNPs and SNP combinations in WNT10A, WNT10B and GREM2 SNPs with isolated tooth agenesis.
Title: Further evidence for the role of WNT10A, WNT10B and GREM2 as candidate genes for isolated tooth agenesis.
TT genotype of the rs4454537 polymorphism protective against the development of osteoporosis
Title: Association betweenGREM2 gene polymorphism with osteoporosis and osteopenia in postmenopausal women.
Our study confirmed that GREM2 is a candidate gene for tooth agenesis, which mutations can explain, however, only a small fraction of the genetic contribution to the pathogenesis of this anomaly.
Title: GREM2 nucleotide variants and the risk of tooth agenesis.
Data show that the GREMLIN 2 (GREM2) expression during Induced Pluripotent Stem Cell (hiPS) cell cardiac differentiation follows the expression pattern of cardiac-specific genes.
Title: Coordinated Proliferation and Differentiation of Human-Induced Pluripotent Stem Cell-Derived Cardiac Progenitor Cells Depend on Bone Morphogenetic Protein Signaling Regulation by GREMLIN 2.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Tooth agenesis, selective, 9 MedGen: C4310638 OMIM: 617275 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of antibody response to smallpox vaccine. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A004V04 (e-PCR)
- UniSTS:40232

RH92820 (e-PCR)
- UniSTS:92209

SHGC-76594 (e-PCR)
- UniSTS:27481

SHGC-142373 (e-PCR)
- UniSTS:171420

RH68323 (e-PCR)
- UniSTS:74156

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	IEA Inferred from Electronic Annotation more info
enables heparin binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables receptor ligand activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cytokine-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in determination of dorsal identity	IEA Inferred from Electronic Annotation more info
involved_in embryonic body morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cytokine activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in sequestering of BMP from receptor via BMP binding	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: gremlin-2

Names: DAN domain family member 3; cysteine knot superfamily 1, BMP antagonist 2; gremlin 2, cysteine knot superfamily, homolog; protein related to DAN and cerberus

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.