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    CHRDL2 chordin like 2 [ Homo sapiens (human) ]

    Gene ID: 25884, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CHRDL2provided by HGNC
    Official Full Name
    chordin like 2provided by HGNC
    Primary source
    HGNC:HGNC:24168
    See related
    Ensembl:ENSG00000054938 MIM:613127; AllianceGenome:HGNC:24168
    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
    BNF1; CHL2
    Summary
    This gene encodes a member of the chordin family of proteins. Chordin family members are secreted proteins that share a cysteine-rich pro-collagen repeat domain and associate with members of the transforming growth factor beta superfamily. In vitro assays demonstrate a direct interaction between the encoded protein and human activin A. This gene is expressed in many tissues including osteoblasts, where it is differentially expressed during differentiation. In addition, its expression is upregulated in human osteoarthritic joint cartilage, suggesting a role in adult cartilage regeneration. [provided by RefSeq, Jan 2015]
    Expression
    Biased expression in gall bladder (RPKM 39.8), appendix (RPKM 39.3) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CHRDL2 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (74696429..74731426, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (74625930..74660944, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (74407474..74442471, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene DNA polymerase delta 3, accessory subunit Neighboring gene RAN pseudogene 3 Neighboring gene RN7SK pseudogene 297 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:74407669-74408868 Neighboring gene uncharacterized LOC124902713 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:74410705-74411205 Neighboring gene uncharacterized LOC124902714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:74418314-74419158 Neighboring gene small nucleolar RNA SNORD43 Neighboring gene microRNA 4696 Neighboring gene ribosomal protein L36a pseudogene 38 Neighboring gene ribosomal protein S12 pseudogene 22

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. CHRDL2 promotes cell proliferation by activating the YAP/TAZ signaling pathway in gastric cancer. Wang L, et al. Free Radic Biol Med, 2022 Nov 20. PMID 36206931
    2. CHRDL2 promotes osteosarcoma cell proliferation and metastasis through the BMP-9/PI3K/AKT pathway. Chen H, et al. Cell Biol Int, 2021 Mar. PMID 33245175, Free PMC Article
    3. Overexpression of colorectal cancer oncogene CHRDL2 predicts a poor prognosis. Sun J, et al. Oncotarget, 2017 Feb 14. PMID 28009989, Free PMC Article
    4. Insights into osteoarthritis progression revealed by analyses of both knee tibiofemoral compartments. Chou CH, et al. Osteoarthritis Cartilage, 2015 Apr. PMID 25575966, Free PMC Article
    5. Molecular characterization of central neurocytomas: potential markers for tumor typing and progression. Vasiljevic A, et al. Neuropathology, 2013 Apr. PMID 22816789

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CHRDL2 promotes cell proliferation by activating the YAP/TAZ signaling pathway in gastric cancer.
      Title: CHRDL2 promotes cell proliferation by activating the YAP/TAZ signaling pathway in gastric cancer.
    2. CHRDL2 promotes osteosarcoma cell proliferation and metastasis through the BMP-9/PI3K/AKT pathway.
      Title: CHRDL2 promotes osteosarcoma cell proliferation and metastasis through the BMP-9/PI3K/AKT pathway.
    3. These results suggest CHRDL2 could serve as a biomarker of poor prognosis in CRC, and provide evidence that CHRDL2 acts as an oncogene in human colorectal cancer
      Title: Overexpression of colorectal cancer oncogene CHRDL2 predicts a poor prognosis.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
    5. Differential expression of CHL2 variants was observed during myoblast and osteoblast differentiation, implying a role for this gene in these physiological processes.
      Title: hCHL2, a novel chordin-related gene, displays differential expression and complex alternative splicing in human tissues and during myoblast and osteoblast maturation.
    6. CHL2 expression is restricted to chondrocytes of various developing joint cartilage surfaces and connective tissues in reproductive organs
      Title: A novel chordin-like BMP inhibitor, CHL2, expressed preferentially in chondrocytes of developing cartilage and osteoarthritic joint cartilage.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FKSG37, DKFZp586M2422, DKFZp586N2124

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BMP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space HDA PubMed 

    General protein information

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    Preferred Names
    chordin-like protein 2
    Names
    breast tumor novel factor 1
    chordin-related protein 2

    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.

    mRNA and Protein(s)

    1. NM_001278473.3 → NP_001265402.1  chordin-like protein 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001265402.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate 3' coding exon, which results in a frameshift compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AP001324, AY279090, BC142623
      Consensus CDS
      CCDS60893.1
      UniProtKB/Swiss-Prot
      A5PKU9, Q6WN30, Q6WN31, Q6WN32, Q6WN34, Q7Z5J3
      UniProtKB/TrEMBL
      B4E311
      Related
      ENSP00000365510.3, ENST00000376332.8
      Conserved Domains (2) summary
      smart00214
      Location:252 → 314
      VWC; von Willebrand factor (vWF) type C domain
      cl17735
      Location:111 → 174
      VWC; von Willebrand factor type C domain

    2. NM_001304390.2 → NP_001291319.1  chordin-like protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has a distinct 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate codon compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AP001324, AY279092, AY358522
      UniProtKB/TrEMBL
      B4E311
      Conserved Domains (2) summary
      smart00214
      Location:232 → 294
      VWC; von Willebrand factor (vWF) type C domain
      cl17735
      Location:91 → 154
      VWC; von Willebrand factor type C domain

    3. NM_001304391.2 → NP_001291320.1  chordin-like protein 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has a distinct 5' UTR, initiates translation at an alternate codon, and has multiple coding region differences compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AP001324, AY279092, AY358522
      UniProtKB/Swiss-Prot
      Q6WN34
      Conserved Domains (3) summary
      smart00214
      Location:13 → 75
      VWC; von Willebrand factor (vWF) type C domain
      PHA03307
      Location:136 → 354
      PHA03307; transcriptional regulator ICP4; Provisional
      cl17735
      Location:91 → 154
      VWC; von Willebrand factor type C domain

    4. NM_001304415.2 → NP_001291344.1  chordin-like protein 2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has a distinct 5' UTR, initiates translation at an alternate codon, and has multiple coding region differences compared to variant 1. The encoded isoform (5) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      AP001324, AY279092, AY358522
      UniProtKB/TrEMBL
      Q6WN33
      Conserved Domains (3) summary
      smart00214
      Location:13 → 75
      VWC; von Willebrand factor (vWF) type C domain
      pfam19548
      Location:253 → 326
      CHRDL_1_2_C; Chordin-like protein 1/2 C-terminal
      cl17735
      Location:91 → 154
      VWC; von Willebrand factor type C domain

    5. NM_001304416.2 → NP_001291345.1  chordin-like protein 2 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has a distinct 5' UTR, initiates translation at a downstream codon, and has multiple coding region differences compared to variant 1. The encoded isoform (6) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      AP001324, AY279092
      UniProtKB/TrEMBL
      Q9BZ90
      Conserved Domains (3) summary
      smart00214
      Location:136 → 198
      VWC; von Willebrand factor (vWF) type C domain
      pfam19548
      Location:222 → 295
      CHRDL_1_2_C; Chordin-like protein 1/2 C-terminal
      cl17735
      Location:19 → 58
      VWC; von Willebrand factor type C domain

    6. NM_001304417.2 → NP_001291346.1  chordin-like protein 2 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has a distinct 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate codon compared to variant 1. The encoded isoform (7) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AP001324, AY358522
      UniProtKB/Swiss-Prot
      Q6WN34
      Conserved Domains (2) summary
      smart00214
      Location:187 → 249
      VWC; von Willebrand factor (vWF) type C domain
      cl17735
      Location:46 → 109
      VWC; von Willebrand factor type C domain

    7. NM_015424.6 → NP_056239.3  chordin-like protein 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_056239.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AP001324, AY279090, AY358522, BC142623
      Consensus CDS
      CCDS8234.1
      UniProtKB/TrEMBL
      B4E311
      Related
      ENSP00000263671.5, ENST00000263671.9
      Conserved Domains (2) summary
      smart00214
      Location:252 → 314
      VWC; von Willebrand factor (vWF) type C domain
      cl17735
      Location:111 → 174
      VWC; von Willebrand factor type C 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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      74696429..74731426 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      74625930..74660944 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6WN34.1 GenPept UniProtKB/Swiss-Prot:Q6WN34

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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