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    KCP kielin cysteine rich BMP regulator [ Homo sapiens (human) ]

    Gene ID: 375616, updated on 5-Mar-2024

    Summary

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    Official Symbol
    KCPprovided by HGNC
    Official Full Name
    kielin cysteine rich BMP regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:17585
    See related
    Ensembl:ENSG00000135253 MIM:609344; AllianceGenome:HGNC:17585
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KCP1; CRIM2; NET67
    Summary
    Predicted to act upstream of or within hematopoietic progenitor cell differentiation and positive regulation of BMP signaling pathway. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in kidney (RPKM 3.0), fat (RPKM 0.8) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q32.1
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128876865..128910709, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130189791..130223635, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128516919..128550763, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26605 Neighboring gene ATPase H+ transporting V1 subunit F Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18619 Neighboring gene sperm microtubule inner protein 1 Neighboring gene Sharpr-MPRA regulatory region 1680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26607 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128524773-128525372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128529996-128530586 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:128530587-128531176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:128531177-128531767 Neighboring gene uncharacterized LOC105375497 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:128532717-128533916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128543906-128544411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128544412-128544916 Neighboring gene filamin C pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128569307-128569807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18620 Neighboring gene Sharpr-MPRA regulatory region 2205 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128578271-128578854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26613 Neighboring gene interferon regulatory factor 5

    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. Increased kielin/chordin-like protein levels are associated with the severity of heart failure. Ye J, et al. Clin Chim Acta, 2018 Nov. PMID 30144436
    2. Kielin/chordin-like protein enhances induction of osteoblast differentiation by Bone Morphogenetic Protein-2. Nagasaki K, et al. FEBS Open Bio, 2023 Jul. PMID 37226930, Free PMC Article
    3. Kielin/chordin-like protein, a novel enhancer of BMP signaling, attenuates renal fibrotic disease. Lin J, et al. Nat Med, 2005 Apr. PMID 15793581
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Kielin/chordin-like protein enhances induction of osteoblast differentiation by Bone Morphogenetic Protein-2.
      Title: Kielin/chordin-like protein enhances induction of osteoblast differentiation by Bone Morphogenetic Protein-2.
    2. The KCP was closely associated with heart failure. The regulation of BMP2/7 and TGF-beta1 expression may be the possible mechanisms.
      Title: Increased kielin/chordin-like protein levels are associated with the severity of heart failure.
    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

    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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in positive regulation of BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    kielin/chordin-like protein
    Names
    cysteine rich BMP regulator 2 (chordin-like)
    cysteine-rich motor neuron 2 protein
    kielin/chordin-like protein 1

    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_001366122.1 → NP_001353051.1  kielin/chordin-like protein isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC025594, KF495713, KF510975
      Consensus CDS
      CCDS94194.1
      UniProtKB/Swiss-Prot
      A0A087WT73, Q6ZWJ8, Q8NBE0
      UniProtKB/TrEMBL
      A0A087WVT8
      Related
      ENSP00000479679.1, ENST00000610776.5
      Conserved Domains (5) summary
      pfam00093
      Location:138 → 188
      VWC; von Willebrand factor type C domain
      pfam00094
      Location:1275 → 1424
      VWD; von Willebrand factor type D domain
      pfam01826
      Location:1550 → 1603
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:1472 → 1539
      C8; C8 domain
      cl17735
      Location:1211 → 1268
      VWC; von Willebrand factor type C domain

    2. NM_199349.3 → NP_955381.2  kielin/chordin-like protein isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC025594, AK095464, AK122706
      UniProtKB/Swiss-Prot
      Q6ZWJ8
      Related
      ENST00000612224.1
      Conserved Domains (2) summary
      pfam00093
      Location:138 → 188
      VWC; von Willebrand factor type C domain
      cl17735
      Location:192 → 248
      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      128876865..128910709 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      130189791..130223635 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001135914.1: Suppressed sequence

      Description
      NM_001135914.1: This RefSeq has been removed because currently there is insufficient support for the transcript and protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZWJ8.3 GenPept UniProtKB/Swiss-Prot:Q6ZWJ8

    Gene LinkOut

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

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