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COMMD5 COMM domain containing 5 [ Homo sapiens (human) ]

Gene ID: 28991, updated on 27-Nov-2024

Summary

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Official Symbol
COMMD5provided by HGNC
Official Full Name
COMM domain containing 5provided by HGNC
Primary source
HGNC:HGNC:17902
See related
Ensembl:ENSG00000170619 MIM:608216; AllianceGenome:HGNC:17902
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
HCARG; HT002
Summary
Predicted to be involved in proximal tubule morphogenesis. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in bone marrow (RPKM 4.8), spleen (RPKM 4.2) and 25 other tissues See more
Orthologs
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Genomic context

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See COMMD5 in Genome Data Viewer
Location:
8q24.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144837978..144853556, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (146011722..146054961, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (146075561..146078941, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19709 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146018867-146019815 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146021109-146022007 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146022008-146022906 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146024705-146025602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146025603-146026501 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146026502-146027399 Neighboring gene microRNA 6850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28105 Neighboring gene ribosomal protein L8 Neighboring gene uncharacterized LOC100130027 Neighboring gene zinc finger protein 517 Neighboring gene hESC enhancers GRCh37_chr8:146052597-146053122 and GRCh37_chr8:146053123-146053648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146053649-146054174 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:146064238-146064791 Neighboring gene zinc finger protein 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:146076290-146076441 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:146077648-146078496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28109 Neighboring gene zinc finger protein 250 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:146126184-146126788 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:146126789-146127391 Neighboring gene uncharacterized LOC124902042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146127392-146127995 Neighboring gene zinc finger protein 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19717

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. COMMD5 Inhibits Malignant Behavior of Renal Cancer Cells. Ikeda J, et al. Anticancer Res, 2021 Jun. PMID 34083270
  2. HCaRG accelerates tubular repair after ischemic kidney injury. Matsuda H, et al. J Am Soc Nephrol, 2011 Nov. PMID 21921141, Free PMC Article
  3. HCaRG, a novel calcium-regulated gene coding for a nuclear protein, is potentially involved in the regulation of cell proliferation. Solban N, et al. J Biol Chem, 2000 Oct 13. PMID 10918053
  4. Rosiglitazone suppresses gastric carcinogenesis by up-regulating HCaRG expression. Chen BL, et al. Oncol Rep, 2008 Nov. PMID 18949406
  5. COMMD5/HCaRG Hooks Endosomes on Cytoskeleton and Coordinates EGFR Trafficking. Campion CG, et al. Cell Rep, 2018 Jul 17. PMID 30021164

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. COMMD5 Inhibits Malignant Behavior of Renal Cancer Cells.
    Title: COMMD5 Inhibits Malignant Behavior of Renal Cancer Cells.
  2. COMMD5 participates in long-range endosome transport, including epidermal growth factor receptor (EGFR) recycling, and provides the strength to deform and assist the scission of vesicles into sorting endosomes.
    Title: COMMD5/HCaRG Hooks Endosomes on Cytoskeleton and Coordinates EGFR Trafficking.
  3. the hypertension-related, calcium-regulated gene (HCaRG/COMMD5) is involved in renal repair.
    Title: Hypertension-related, calcium-regulated gene (HCaRG/COMMD5) and kidney diseases: HCaRG accelerates tubular repair.
  4. HCaRG accelerates repair of renal proximal tubules by modulating cell proliferation of resident tubular epithelial cells and by facilitating redifferentiation.
    Title: HCaRG accelerates tubular repair after ischemic kidney injury.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide linkage scans for type 2 diabetes mellitus in four ethnically diverse populations-significant evidence for linkage on chromosome 4q in African Americans: the Family Investigation of Nephropathy and Diabetes Research Group.
  6. The up-regulation of HCaRG may be one of the mechanisms underlying the chemopreventive effect of rosiglitazone in gastric cancer.
    Title: Rosiglitazone suppresses gastric carcinogenesis by up-regulating HCaRG expression.
  7. The gene for human HCaRG is located on chromosome 8q24.3.
    Title: Chromosomal mapping of HCaRG, a novel hypertension-related, calcium-regulated gene.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13008, MGC72046

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
COMM domain-containing protein 5
Names
hypertension-related calcium-regulated gene protein

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_001081003.3 → NP_001074472.1  COMM domain-containing protein 5

    See identical proteins and their annotated locations for NP_001074472.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 4. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AW137480, BC002672, BI753202, BU600590
    Consensus CDS
    CCDS6436.1
    UniProtKB/Swiss-Prot
    D3DWN7, Q9GZQ3, Q9NVN6, Q9UHX5
    Related
    ENSP00000394331.2, ENST00000450361.2
    Conserved Domains (1) summary
    cd04753
    Location:115 → 224
    Commd5_HCaRG; COMM_Domain containing protein 5, also called HCaRG (hypertension-related, calcium-regulated gene). HCaRG is a nuclear protein that might be involved in cell proliferation; it is negatively regulated by extracellular calcium concentration, and its basal ...

  2. NM_001081004.3 → NP_001074473.1  COMM domain-containing protein 5

    See identical proteins and their annotated locations for NP_001074473.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 4. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AW137480, BC002672, BQ680339
    Consensus CDS
    CCDS6436.1
    UniProtKB/Swiss-Prot
    D3DWN7, Q9GZQ3, Q9NVN6, Q9UHX5
    Related
    ENSP00000385793.3, ENST00000402718.4
    Conserved Domains (1) summary
    cd04753
    Location:115 → 224
    Commd5_HCaRG; COMM_Domain containing protein 5, also called HCaRG (hypertension-related, calcium-regulated gene). HCaRG is a nuclear protein that might be involved in cell proliferation; it is negatively regulated by extracellular calcium concentration, and its basal ...

  3. NM_001287237.2 → NP_001274166.1  COMM domain-containing protein 5

    See identical proteins and their annotated locations for NP_001274166.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) represents the longest transcript. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AW137480, BC003055, BM013651, BQ680339
    Consensus CDS
    CCDS6436.1
    UniProtKB/Swiss-Prot
    D3DWN7, Q9GZQ3, Q9NVN6, Q9UHX5
    Related
    ENSP00000445840.2, ENST00000543949.2
    Conserved Domains (1) summary
    cd04753
    Location:115 → 224
    Commd5_HCaRG; COMM_Domain containing protein 5, also called HCaRG (hypertension-related, calcium-regulated gene). HCaRG is a nuclear protein that might be involved in cell proliferation; it is negatively regulated by extracellular calcium concentration, and its basal ...

  4. NM_014066.4 → NP_054785.2  COMM domain-containing protein 5

    See identical proteins and their annotated locations for NP_054785.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 4. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AW137480, BC065729, BG705627
    Consensus CDS
    CCDS6436.1
    UniProtKB/Swiss-Prot
    D3DWN7, Q9GZQ3, Q9NVN6, Q9UHX5
    Related
    ENSP00000304544.3, ENST00000305103.4
    Conserved Domains (1) summary
    cd04753
    Location:115 → 224
    Commd5_HCaRG; COMM_Domain containing protein 5, also called HCaRG (hypertension-related, calcium-regulated gene). HCaRG is a nuclear protein that might be involved in cell proliferation; it is negatively regulated by extracellular calcium concentration, and its basal ...

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    144837978..144853556 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002956629.2 RNA Sequence

  2. XR_002956628.2 RNA Sequence

  3. XR_007060730.1 RNA Sequence

  4. XR_928321.4 RNA Sequence

  5. XR_007060731.1 RNA Sequence

  6. XR_428379.4 RNA Sequence

  7. XR_928323.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    146011722..146054961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360356.1 → XP_054216331.1  COMM domain-containing protein 5 isoform X1

  2. XM_054360353.1 → XP_054216328.1  COMM domain-containing protein 5 isoform X1

  3. XM_054360355.1 → XP_054216330.1  COMM domain-containing protein 5 isoform X1

  4. XM_054360354.1 → XP_054216329.1  COMM domain-containing protein 5 isoform X1

  5. XM_054360360.1 → XP_054216335.1  COMM domain-containing protein 5 isoform X1

  6. XM_054360357.1 → XP_054216332.1  COMM domain-containing protein 5 isoform X1

  7. XM_054360351.1 → XP_054216326.1  COMM domain-containing protein 5 isoform X1

  8. XM_054360361.1 → XP_054216336.1  COMM domain-containing protein 5 isoform X1

  9. XM_054360358.1 → XP_054216333.1  COMM domain-containing protein 5 isoform X1

  10. XM_054360352.1 → XP_054216327.1  COMM domain-containing protein 5 isoform X1

  11. XM_054360359.1 → XP_054216334.1  COMM domain-containing protein 5 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9GZQ3.1 GenPept UniProtKB/Swiss-Prot:Q9GZQ3

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