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    CD68 CD68 molecule [ Homo sapiens (human) ]

    Gene ID: 968, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CD68provided by HGNC
    Official Full Name
    CD68 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:1693
    See related
    Ensembl:ENSG00000129226 MIM:153634; AllianceGenome:HGNC:1693
    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
    GP110; LAMP4; SCARD1
    Summary
    This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in spleen (RPKM 159.3), lung (RPKM 115.5) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CD68 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7579638..7582111)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7483886..7486361)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7482956..7485429)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SENP3-EIF4A1 readthrough (NMD candidate) Neighboring gene eukaryotic translation initiation factor 4A1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7481957-7482145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11635 Neighboring gene small nucleolar RNA, C/D box 10 Neighboring gene small nucleolar RNA, H/ACA box 67 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7485994-7486867 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7486868-7487742 Neighboring gene MPDU1 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7487743-7488615 Neighboring gene mannose-P-dolichol utilization defect 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7492556-7493130 Neighboring gene SRY-box transcription factor 15 Neighboring gene FMR1 autosomal homolog 2 Neighboring gene uncharacterized LOC124904134

    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. CD68 expression in aortocoronary saphenous vein bypass grafts. Malinska A, et al. Histochem Cell Biol, 2013 Aug. PMID 23275124
    2. The Scavenger Receptor CD68 Regulates Platelet Mediated Oxidized Low-Density Lipoprotein (oxLDL) Deposition in Atherosclerotic Vessels at an Early Stage of Atherosclerosis in LDLR(-/-)/ApoBec(-/-) Mice. Zeibig S, et al. Cell Physiol Biochem, 2019. PMID 30921507
    3. Evaluation of the effects of anti-psychotic drugs on the expression of CD68 on the peripheral blood monocytes of Alzheimer patients with psychotic symptoms. Bahramabadi R, et al. Life Sci, 2017 Jun 15. PMID 28465247
    4. Role of renal expression of CD68 in the long-term prognosis of proliferative lupus nephritis. Dias CB, et al. J Nephrol, 2017 Feb. PMID 26621103
    5. The Diagnostic Impact of C4d, CD68, and NF-κB Expression in the Differentiation Between Recurrent Hepatitis C and Acute Cellular Rejection After Liver Transplantation. Abdou AG, et al. Appl Immunohistochem Mol Morphol, 2016 Oct. PMID 26469325

    See all (107) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of CD68 in the tumor immune microenvironment in Hodgkin's lymphoma.
      Title: Role of CD68 in the tumor immune microenvironment in Hodgkin's lymphoma.
    2. Unraveling the potential of CD8, CD68, and VISTA as diagnostic and prognostic markers in patients with pancreatic ductal adenocarcinoma.
      Title: Unraveling the potential of CD8, CD68, and VISTA as diagnostic and prognostic markers in patients with pancreatic ductal adenocarcinoma.
    3. CD68 expression in the placenta of gestational diabetic mothers: A case-control study.
      Title: CD68 expression in the placenta of gestational diabetic mothers: A case-control study.
    4. Microglial CD68 and L-ferritin upregulation in response to phosphorylated-TDP-43 pathology in the amyotrophic lateral sclerosis brain.
      Title: Microglial CD68 and L-ferritin upregulation in response to phosphorylated-TDP-43 pathology in the amyotrophic lateral sclerosis brain.
    5. Impact of vitamin D in children with chronic tonsillitis (immunohistochemical study of CD68 polarisation and proinflammatory cytokines estimation).
      Title: Impact of vitamin D in children with chronic tonsillitis (immunohistochemical study of CD68 polarisation and proinflammatory cytokines estimation).
    6. CD47 and CD68 expression in breast cancer is associated with tumor-infiltrating lymphocytes, blood vessel invasion, detection mode, and prognosis.
      Title: CD47 and CD68 expression in breast cancer is associated with tumor-infiltrating lymphocytes, blood vessel invasion, detection mode, and prognosis.
    7. A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.
      Title: A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.
    8. Bone marrow expression of CD68/CD163 macrophages, IL-17 and FOXP3 cells in aplastic anemia and their relation to prognosis.
      Title: Bone marrow expression of CD68/CD163 macrophages, IL-17 and FOXP3 cells in aplastic anemia and their relation to prognosis.
    9. Progranulin-derived granulin E and lysosome membrane protein CD68 interact to reciprocally regulate their protein homeostasis.
      Title: Progranulin-derived granulin E and lysosome membrane protein CD68 interact to reciprocally regulate their protein homeostasis.
    10. BMP6 increases CD68 expression by up-regulating CTGF expression in human granulosa-lutein cells.
      Title: BMP6 increases CD68 expression by up-regulating CTGF expression in human granulosa-lutein cells.
    Submit: New GeneRIF Correction See all GeneRIFs (85)

    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
    A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: EIF4A1

    Homology

    Clone Names

    • DKFZp686M18236

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to nutrient levels ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to oxidised low-density lipoprotein particle stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in establishment of protein localization to organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inflammatory response to antigenic stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of dendritic cell antigen processing and presentation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in late endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    macrosialin
    Names
    CD68 antigen
    macrophage antigen CD68
    scavenger receptor class D, member 1

    NCBI Reference Sequences (RefSeq)

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    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_001040059.2 → NP_001035148.1  macrosialin isoform B precursor

      See identical proteins and their annotated locations for NP_001035148.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform B), compared to isoform A.
      Source sequence(s)
      AW294871, BC015557, BX438711, DB187273
      Consensus CDS
      CCDS58512.1
      UniProtKB/Swiss-Prot
      P34810
      Related
      ENSP00000369867.6, ENST00000380498.10
      Conserved Domains (1) summary
      pfam01299
      Location:58 → 292
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)

    2. NM_001251.3 → NP_001242.2  macrosialin isoform A precursor

      See identical proteins and their annotated locations for NP_001242.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A).
      Source sequence(s)
      AW294871, BC015557
      Consensus CDS
      CCDS11114.1
      UniProtKB/Swiss-Prot
      B4DVT4, P34810, Q53HR6, Q53XI3, Q96BI7
      UniProtKB/TrEMBL
      B4DNT7
      Related
      ENSP00000250092.6, ENST00000250092.11
      Conserved Domains (1) summary
      pfam01299
      Location:85 → 319
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7579638..7582111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7483886..7486361
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P34810.2 GenPept UniProtKB/Swiss-Prot:P34810

    Gene LinkOut

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

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