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    CD163 CD163 molecule [ Homo sapiens (human) ]

    Gene ID: 9332, updated on 4-Nov-2024

    Summary

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    Official Symbol
    CD163provided by HGNC
    Official Full Name
    CD163 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:1631
    See related
    Ensembl:ENSG00000177575 MIM:605545; AllianceGenome:HGNC:1631
    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
    M130; MM130; SCARI1
    Summary
    The protein encoded by this gene is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in appendix (RPKM 85.9), spleen (RPKM 66.5) and 18 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CD163 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (7470811..7503777, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (7484506..7517489, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7623407..7656373, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CD163 molecule like 1 Neighboring gene uncharacterized LOC101927882 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:7521391-7522590 Neighboring gene M-phase phosphoprotein 8 pseudogene Neighboring gene uncharacterized LOC124902870 Neighboring gene NANOG hESC enhancer GRCh37_chr12:7650144-7650645 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_30893 Neighboring gene MPRA-validated peak1556 silencer Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 31 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:7736568-7737767 Neighboring gene Sharpr-MPRA regulatory region 13430 Neighboring gene NIFK pseudogene 3

    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. CD163 immunohistochemistry is superior to CD68 in predicting outcome in classical Hodgkin lymphoma. Klein JL, et al. Am J Clin Pathol, 2014 Mar. PMID 24515766
    2. Chemokine expression profile of freshly isolated human glioblastoma-associated macrophages/microglia. Hattermann K, et al. Oncol Rep, 2014 Jul. PMID 24859792
    3. SAA drives proinflammatory heterotypic macrophage differentiation in the lung via CSF-1R-dependent signaling. Anthony D, et al. FASEB J, 2014 Sep. PMID 24846388, Free PMC Article
    4. Immunohistochemical characterization and morphometric analysis of macrophages in rat mammary tumors. Ong CB, et al. Vet Pathol, 2015 Mar. PMID 24842486
    5. Monocyte-activation phenotypes are associated with biomarkers of inflammation and coagulation in chronic HIV infection. Wilson EM, et al. J Infect Dis, 2014 Nov 1. PMID 24813472, Free PMC Article

    See all (311) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HOXA9 and CD163 potentiate pancreatic ductal adenocarcinoma progression.
      Title: HOXA9 and CD163 potentiate pancreatic ductal adenocarcinoma progression.
    2. CD163+ macrophage density in perimysial connective tissue associated with prognosis in IMNM.
      Title: CD163+ macrophage density in perimysial connective tissue associated with prognosis in IMNM.
    3. CD163 as a Potential Biomarker-associated Immune Inflammation in Diabetes Mellitus: A Systematic Review and Bioinformatics Analysis.
      Title: CD163 as a Potential Biomarker-associated Immune Inflammation in Diabetes Mellitus: A Systematic Review and Bioinformatics Analysis.
    4. Differential expression of Semaphorin-7A /CD163-positive macrophages in large artery and cardiogenic stroke.
      Title: Differential expression of Semaphorin-7A /CD163-positive macrophages in large artery and cardiogenic stroke.
    5. The relationship between high ratios of CD4/FOXP3 and CD8/CD163 and the improved survivability of metastatic triple-negative breast cancer patients: a multicenter cohort study.
      Title: The relationship between high ratios of CD4/FOXP3 and CD8/CD163 and the improved survivability of metastatic triple-negative breast cancer patients: a multicenter cohort study.
    6. Clinical Utility of Soluble CD163 and its Diagnostic and Prognostic Value in a Variety of Neurological Disorders.
      Title: Clinical Utility of Soluble CD163 and its Diagnostic and Prognostic Value in a Variety of Neurological Disorders.
    7. Circulating soluble CD163 as a potential biomarker of diabetes complications.
      Title: Circulating soluble CD163 as a potential biomarker of diabetes complications.
    8. Prognostic role of the innate immune signature CD163 and "eat me" signal calreticulin in clear cell renal cell carcinoma.
      Title: Prognostic role of the innate immune signature CD163 and "eat me" signal calreticulin in clear cell renal cell carcinoma.
    9. Soluble CD163 is a predictor of fibrosis and hepatocellular carcinoma development in nonalcoholic steatohepatitis.
      Title: Soluble CD163 is a predictor of fibrosis and hepatocellular carcinoma development in nonalcoholic steatohepatitis.
    10. The clinical utility of CD163 in viral diseases.
      Title: The clinical utility of CD163 in viral diseases.
    Submit: New GeneRIF Correction See all GeneRIFs (264)

    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
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infected patient clinical samples exhibit an upregulation of CXCL10 and soluble CD163, which correlates with viral load PubMed
    Knockdown of CD163 molecule by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef downregulates CD163 expression in M2-type macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables scavenger receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acute-phase response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    scavenger receptor cysteine-rich type 1 protein M130
    Names
    hemoglobin scavenger receptor
    macrophage-associated antigen

    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.

    Genomic

    1. NG_029826.1 RefSeqGene

      Range
      5042..38008
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001370145.1 → NP_001357074.1  scavenger receptor cysteine-rich type 1 protein M130 isoform b precursor

      Status: REVIEWED

      Source sequence(s)
      AC131206
      Consensus CDS
      CCDS53742.1
      UniProtKB/TrEMBL
      F5GZZ9
      Conserved Domains (1) summary
      smart00202
      Location:719 → 819
      SR; Scavenger receptor Cys-rich

    2. NM_001370146.1 → NP_001357075.1  scavenger receptor cysteine-rich type 1 protein M130 isoform c precursor

      Status: REVIEWED

      Source sequence(s)
      AC131206
      UniProtKB/TrEMBL
      F5GZZ9
      Conserved Domains (1) summary
      smart00202
      Location:719 → 819
      SR; Scavenger receptor Cys-rich

    3. NM_004244.6 → NP_004235.4  scavenger receptor cysteine-rich type 1 protein M130 isoform a precursor

      See identical proteins and their annotated locations for NP_004235.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as long tail variant 1, represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC131206, AI129762, BC051281, DA619387, DB291765
      Consensus CDS
      CCDS8578.1
      UniProtKB/Swiss-Prot
      C9JIG2, Q07898, Q07899, Q07900, Q07901, Q2VLH7, Q86VB7
      UniProtKB/TrEMBL
      F5GZZ9
      Related
      ENSP00000352071.4, ENST00000359156.8
      Conserved Domains (2) summary
      smart00202
      Location:719 → 819
      SR; Scavenger receptor Cys-rich
      pfam00530
      Location:724 → 819
      SRCR; Scavenger receptor cysteine-rich domain

    4. NM_203416.4 → NP_981961.2  scavenger receptor cysteine-rich type 1 protein M130 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as short tail variant, uses an alternate splice site in the 3' coding region compared to variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform b which is shorter, and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC131206, AI129762, BC051281, DA619387, DB291765, DQ058615
      Consensus CDS
      CCDS53742.1
      UniProtKB/TrEMBL
      F5GZZ9
      Related
      ENSP00000403885.2, ENST00000432237.3
      Conserved Domains (1) summary
      smart00202
      Location:719 → 819
      SR; Scavenger receptor Cys-rich

    RNA

    1. NR_163255.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC131206

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      7470811..7503777 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449278.2 → XP_024305046.1  scavenger receptor cysteine-rich type 1 protein M130 isoform X2

      UniProtKB/TrEMBL
      C9JHR8, F5GZZ9
      Related
      ENSP00000379863.3, ENST00000396620.7
      Conserved Domains (1) summary
      smart00202
      Location:752 → 852
      SR; Scavenger receptor Cys-rich

    2. XM_047429895.1 → XP_047285851.1  scavenger receptor cysteine-rich type 1 protein M130 isoform X1

      Related
      ENST00000537044.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      7484506..7517489 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373862.1 → XP_054229837.1  scavenger receptor cysteine-rich type 1 protein M130 isoform X2

    2. XM_054373861.1 → XP_054229836.1  scavenger receptor cysteine-rich type 1 protein M130 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86VB7.2 GenPept UniProtKB/Swiss-Prot:Q86VB7

    Gene LinkOut

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

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