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CHRDL2 chordin like 2 [ Homo sapiens (human) ]

Gene ID: 25884, updated on 22-Aug-2020

Summary

Official Symbol
CHRDL2provided by HGNC
Official Full Name
chordin like 2provided by HGNC
Primary source
HGNC:HGNC:24168
See related
Ensembl:ENSG00000054938 MIM:613127
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

Genomic context

See CHRDL2 in Genome Data Viewer
Location:
11q13.4
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (74696429..74731426, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (74407474..74442227, 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 microRNA 4696 Neighboring gene ribosomal protein L36a pseudogene 38 Neighboring gene ribosomal protein S12 pseudogene 22

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
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FKSG37, DKFZp586M2422, DKFZp586N2124

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cartilage development IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular space HDA PubMed 

General protein information

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

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.

mRNA and Protein(s)

  1. NM_001278473.3NP_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
    Q6WN34
    Related
    ENSP00000365510.3, ENST00000376332.7
    Conserved Domains (2) summary
    smart00214
    Location:252314
    VWC; von Willebrand factor (vWF) type C domain
    cl17735
    Location:111174
    VWC; von Willebrand factor type C domain
  2. NM_001304390.2NP_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/Swiss-Prot
    Q6WN34
    Conserved Domains (2) summary
    smart00214
    Location:232294
    VWC; von Willebrand factor (vWF) type C domain
    cl17735
    Location:91154
    VWC; von Willebrand factor type C domain
  3. NM_001304391.2NP_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 (2) summary
    smart00214
    Location:1375
    VWC; von Willebrand factor (vWF) type C domain
    cl17735
    Location:91154
    VWC; von Willebrand factor type C domain
  4. NM_001304415.2NP_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/Swiss-Prot
    Q6WN34
    Conserved Domains (2) summary
    smart00214
    Location:1375
    VWC; von Willebrand factor (vWF) type C domain
    cl17735
    Location:91154
    VWC; von Willebrand factor type C domain
  5. NM_001304416.2NP_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/Swiss-Prot
    Q6WN34
    Conserved Domains (2) summary
    smart00214
    Location:136198
    VWC; von Willebrand factor (vWF) type C domain
    cl17735
    Location:1958
    VWC; von Willebrand factor type C domain
  6. NM_001304417.2NP_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:187249
    VWC; von Willebrand factor (vWF) type C domain
    cl17735
    Location:46109
    VWC; von Willebrand factor type C domain
  7. NM_015424.6NP_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/Swiss-Prot
    Q6WN34
    Related
    ENSP00000263671.5, ENST00000263671.9
    Conserved Domains (2) summary
    smart00214
    Location:252314
    VWC; von Willebrand factor (vWF) type C domain
    cl17735
    Location:111174
    VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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