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

    Gene ID: 64388, updated on 28-Oct-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GREM2 in Genome Data Viewer
    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_000001.11Genomic 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 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:240421073-240422272 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:240656515-240656686 Neighboring gene MPRA-validated peak794 silencer Neighboring gene uncharacterized LOC124904600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:240770159-240770658 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 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

    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
    Genome-wide association study of antibody response to smallpox vaccine.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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
      Q86UD9, Q9H772
      Related
      ENSP00000318650.4, ENST00000318160.5
      Conserved Domains (1) summary
      pfam03045
      Location:51158
      DAN; DAN domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      240489573..240612155 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544249.3XP_011542551.1  gremlin-2 isoform X2

      See identical proteins and their annotated locations for XP_011542551.1

      UniProtKB/Swiss-Prot
      Q86UD9, Q9H772
      Conserved Domains (1) summary
      pfam03045
      Location:51158
      DAN; DAN domain
    2. XM_047427832.1XP_047283788.1  gremlin-2 isoform X1

    3. XM_047427839.1XP_047283795.1  gremlin-2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      239900834..240023520 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338212.1XP_054194187.1  gremlin-2 isoform X2

      UniProtKB/Swiss-Prot
      Q86UD9, Q9H772
    2. XM_054338210.1XP_054194185.1  gremlin-2 isoform X1

    3. XM_054338211.1XP_054194186.1  gremlin-2 isoform X1