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

Gene ID: 64388, updated on 7-Jun-2020

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
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

Genomic context

See GREM2 in Genome Data Viewer
Location:
1q43
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (240489573..240612372, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (240652873..240775462, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene formin 2 Neighboring gene proteasome 26S subunit, non-ATPase, 2 pseudogene 1 Neighboring gene ADH5 pseudogene 3 Neighboring gene uncharacterized LOC107985369 Neighboring gene RNA, U5F small nuclear 8, pseudogene Neighboring gene ribosomal protein S11 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
BMP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine activity IEA
Inferred from Electronic Annotation
more info
 
heparin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
receptor ligand activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway TAS
Traceable Author Statement
more info
 
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
determination of dorsal identity IEA
Inferred from Electronic Annotation
more info
 
embryonic body morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cytokine activity ISS
Inferred from Sequence or Structural Similarity
more info
 
sequestering of BMP from receptor via BMP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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.

Genomic

  1. NG_053136.1 RefSeqGene

    Range
    5218..127800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022469.4NP_071914.3  gremlin-2 precursor

    See identical proteins and their annotated locations for NP_071914.3

    Status: REVIEWED

    Source sequence(s)
    AK024848, AL358176, BQ005641
    Consensus CDS
    CCDS31070.1
    UniProtKB/Swiss-Prot
    Q9H772
    UniProtKB/TrEMBL
    A0A024R3Y1
    Related
    ENSP00000318650.4, ENST00000318160.5
    Conserved Domains (1) summary
    pfam03045
    Location:54158
    DAN; DAN domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    240489573..240612372 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544249.2XP_011542551.1  gremlin-2 isoform X2

    See identical proteins and their annotated locations for XP_011542551.1

    UniProtKB/Swiss-Prot
    Q9H772
    UniProtKB/TrEMBL
    A0A024R3Y1
    Conserved Domains (1) summary
    pfam03045
    Location:54158
    DAN; DAN domain
  2. XM_005273226.4XP_005273283.1  gremlin-2 isoform X1

    Conserved Domains (1) summary
    pfam03045
    Location:72176
    DAN; DAN domain
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