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    CLEC3B C-type lectin domain family 3 member B [ Homo sapiens (human) ]

    Gene ID: 7123, updated on 2-Nov-2024

    Summary

    Official Symbol
    CLEC3Bprovided by HGNC
    Official Full Name
    C-type lectin domain family 3 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:11891
    See related
    Ensembl:ENSG00000163815 MIM:187520; AllianceGenome:HGNC:11891
    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
    TN; TNA; MCDR4
    Summary
    Enables calcium ion binding activity; heparin binding activity; and kringle domain binding activity. Involved in bone mineralization. Located in cytoplasm; extracellular space; and granular component. Implicated in osteoarthritis and retinal macular dystrophy 4. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in spleen (RPKM 63.9), fat (RPKM 63.1) and 20 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CLEC3B in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (45026303..45036071)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (45042041..45051809)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (45067795..45077563)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene zinc finger DHHC-type palmitoyltransferase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:44981025-44981526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:44981527-44982026 Neighboring gene ribosomal protein L12 pseudogene 44 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:45000471-45001670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:45016646-45017190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14276 Neighboring gene exosome component 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45068175-45068676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45068677-45069176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45075939-45076588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45076589-45077236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14277 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14278 Neighboring gene RNA, U5B small nuclear 3, pseudogene Neighboring gene uncharacterized LOC124906233 Neighboring gene CUB domain containing protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:45165469-45165970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:45165971-45166470 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:45169788-45170032 Neighboring gene Sharpr-MPRA regulatory region 12576 Neighboring gene ribosomal protein S24 pseudogene 8

    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
    Macular dystrophy, retinal, 4
    MedGen: C5774187 OMIM: 619977 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686H17246

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables kringle domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bone mineralization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ossification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ossification IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of plasminogen activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    tetranectin
    Names
    plasminogen kringle 4-binding protein
    tetranectin (plasminogen-binding protein)

    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.

    mRNA and Protein(s)

    1. NM_001308394.2NP_001295323.1  tetranectin isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a 5' exon and contains an alternate 5' terminal exon, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BI826174, BI826652, BM669340, CD616729
      Consensus CDS
      CCDS77730.1
      UniProtKB/TrEMBL
      E9PHK0, Q68DS3
      Related
      ENSP00000396013.1, ENST00000428034.1
      Conserved Domains (1) summary
      cd03596
      Location:29157
      CLECT_tetranectin_like; C-type lectin-like domain (CTLD) of the type found in the tetranectin (TN), cartilage derived C-type lectin (CLECSF1), and stem cell growth factor (SCGF)
    2. NM_003278.3NP_003269.2  tetranectin isoform 1precursor

      See identical proteins and their annotated locations for NP_003269.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC104165, BC011024, BI837909
      Consensus CDS
      CCDS2726.1
      UniProtKB/Swiss-Prot
      P05452, Q6FGX6
      UniProtKB/TrEMBL
      B2R582
      Related
      ENSP00000296130.4, ENST00000296130.5
      Conserved Domains (1) summary
      cd03596
      Location:71199
      CLECT_tetranectin_like; C-type lectin-like domain (CTLD) of the type found in the tetranectin (TN), cartilage derived C-type lectin (CLECSF1), and stem cell growth factor (SCGF)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      45026303..45036071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007116.2XP_016862605.1  tetranectin isoform X1

      UniProtKB/TrEMBL
      B2R582
      Conserved Domains (1) summary
      cd03596
      Location:38166
      CLECT_tetranectin_like; C-type lectin-like domain (CTLD) of the type found in the tetranectin (TN), cartilage derived C-type lectin (CLECSF1), and stem cell growth factor (SCGF)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      45042041..45051809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347707.1XP_054203682.1  tetranectin isoform X1