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CHRDL2 chordin like 2 [ Homo sapiens (human) ]

Gene ID: 25884, updated on 5-Mar-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
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Genomic context

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Location:
11q13.4
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (74696429..74731426, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (74625930..74660944, complement)
105.20220307 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
  • 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.
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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
  
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_2023_10

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

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