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    CCDC66 coiled-coil domain containing 66 [ Homo sapiens (human) ]

    Gene ID: 285331, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CCDC66provided by HGNC
    Official Full Name
    coiled-coil domain containing 66provided by HGNC
    Primary source
    HGNC:HGNC:27709
    See related
    Ensembl:ENSG00000180376 MIM:619287; AllianceGenome:HGNC:27709
    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
    Summary
    Enables microtubule binding activity. Involved in cilium assembly; microtubule bundle formation; and regulation of protein localization to cilium. Located in several cellular components, including Flemming body; microtubule cytoskeleton; and photoreceptor inner segment. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 7.3), endometrium (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC66 in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (56557156..56621837)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (56597679..56662164)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (56591184..56655865)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ELKS/RAB6-interacting/CAST family member 2 Neighboring gene RNA, 5S ribosomal pseudogene 133 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:56288084-56288696 Neighboring gene NANOG hESC enhancer GRCh37_chr3:56469501-56470002 Neighboring gene uncharacterized LOC105377099 Neighboring gene Sharpr-MPRA regulatory region 10072 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:56590646-56591318 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:56591319-56591990 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:56716124-56717068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14471 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:56796980-56797857 Neighboring gene transcription activation suppressor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14472 Neighboring gene Sharpr-MPRA regulatory region 9253 Neighboring gene Rho guanine nucleotide exchange factor 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:56886037-56887236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14474 Neighboring gene Sharpr-MPRA regulatory region 9226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:56949810-56950362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:56950363-56950913 Neighboring gene ARHGEF3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57040522-57041053 Neighboring gene Sharpr-MPRA regulatory region 6639 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:57049075-57049840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:57086410-57086910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:57086911-57087411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57097817-57098598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19985 Neighboring gene spermatogenesis associated 12

    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. CCDC66 regulates primary cilium length and signaling via interactions with transition zone and axonemal proteins. Odabasi E, et al. J Cell Sci, 2023 Feb 1. PMID 36606424
    2. Circ-CCDC66 accelerates proliferation and invasion of gastric cancer via binding to miRNA-1238-3p. Yang M, et al. Eur Rev Med Pharmacol Sci, 2019 May. PMID 31173287
    3. Centrosomal and ciliary targeting of CCDC66 requires cooperative action of centriolar satellites, microtubules and molecular motors. Conkar D, et al. Sci Rep, 2019 Oct 3. PMID 31582766, Free PMC Article
    4. Circular RNA CCDC66 facilitates abdominal aortic aneurysm through the overexpression of CCDC66. Yang R, et al. Cell Biochem Funct, 2020 Oct. PMID 31997404
    5. CircRNACCDC66 regulates cisplatin resistance in gastric cancer via the miR-618/BCL2 axis. Zhang Q, et al. Biochem Biophys Res Commun, 2020 Jun 4. PMID 32253030

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CCDC66 mutations are associated with high myopia through affected cell mitosis.
      Title: CCDC66 mutations are associated with high myopia through affected cell mitosis.
    2. CCDC66 regulates primary cilium length and signaling via interactions with transition zone and axonemal proteins.
      Title: CCDC66 regulates primary cilium length and signaling via interactions with transition zone and axonemal proteins.
    3. Circular RNA CCDC66 Improves Murine Double Minute 4 (MDM4) Expression through Targeting miR-370 in Colorectal Cancer.
      Title: Circular RNA CCDC66 Improves Murine Double Minute 4 (MDM4) Expression through Targeting miR-370 in Colorectal Cancer.
    4. Circular RNA circCCDC66 promotes glioma proliferation by acting as a ceRNA for miR-320a to regulate FOXM1 expression.
      Title: Circular RNA circCCDC66 promotes glioma proliferation by acting as a ceRNA for miR-320a to regulate FOXM1 expression.
    5. Circular RNA CCDC66 facilitates abdominal aortic aneurysm through the overexpression of CCDC66.
      Title: Circular RNA CCDC66 facilitates abdominal aortic aneurysm through the overexpression of CCDC66.
    6. CircRNACCDC66 regulates cisplatin resistance in gastric cancer via the miR-618/BCL2 axis.
      Title: CircRNACCDC66 regulates cisplatin resistance in gastric cancer via the miR-618/BCL2 axis.
    7. Centrosomal and ciliary targeting of CCDC66 requires cooperative action of centriolar satellites, microtubules and molecular motors.
      Title: Centrosomal and ciliary targeting of CCDC66 requires cooperative action of centriolar satellites, microtubules and molecular motors.
    8. Circ-CCDC66 accelerates proliferation and invasion of gastric cancer via binding to miRNA-1238-3p.
      Title: Circ-CCDC66 accelerates proliferation and invasion of gastric cancer via binding to miRNA-1238-3p.
    9. this is the first report revealing that cir-CCDC66 modulates DCX expression through sponging miR-488-3p and thus participates in the onset of Hirschsprung's disease.
      Title: Circular RNA CCDC66 targets DCX to regulate cell proliferation and migration by sponging miR-488-3p in Hirschsprung's disease.
    10. HGF/c-Met regulates expression of SAE2 and cirRNA CCDC66 to increase epithelial-to-mesenchymal transition and drug resistance of lung adenocarcinoma cells.
      Title: The role of HGF-MET pathway and CCDC66 cirRNA expression in EGFR resistance and epithelial-to-mesenchymal transition of lung adenocarcinoma cells.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686C0433

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in detection of light stimulus involved in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in microtubule bundle formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retina homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Flemming body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT colocalizes_with ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in photoreceptor inner segment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 66

    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_001012506.5 → NP_001012524.4  coiled-coil domain-containing protein 66 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC098478, AL833326, BC047509, BC132827, BM874633, BU674751, CU456552, DA017177
      Consensus CDS
      CCDS33770.2
      UniProtKB/Swiss-Prot
      A2RUB6
      Related
      ENSP00000326050.7, ENST00000326595.11
      Conserved Domains (1) summary
      pfam15236
      Location:377 → 528
      CCDC66; Coiled-coil domain-containing protein 66

    2. NM_001141947.3 → NP_001135419.1  coiled-coil domain-containing protein 66 isoform 1

      See identical proteins and their annotated locations for NP_001135419.1

      Status: VALIDATED

      Source sequence(s)
      AC098478, AL833326, BC132827, BM874633, BU674751, CU456552, DA017177
      Consensus CDS
      CCDS46852.1
      UniProtKB/Swiss-Prot
      A2RUB6, B3KWL8, Q4VC34, Q8N949
      Related
      ENSP00000378167.3, ENST00000394672.8
      Conserved Domains (1) summary
      pfam15236
      Location:411 → 562
      CCDC66; Coiled-coil domain-containing protein 66

    3. NM_001353147.1 → NP_001340076.1  coiled-coil domain-containing protein 66 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:411 → 562
      CCDC66; Coiled-coil domain-containing protein 66

    4. NM_001353148.1 → NP_001340077.1  coiled-coil domain-containing protein 66 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:411 → 556
      CCDC66; Coiled-coil domain-containing protein 66

    5. NM_001353149.1 → NP_001340078.1  coiled-coil domain-containing protein 66 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:404 → 555
      CCDC66; Coiled-coil domain-containing protein 66

    6. NM_001353150.1 → NP_001340079.1  coiled-coil domain-containing protein 66 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:388 → 539
      CCDC66; Coiled-coil domain-containing protein 66

    7. NM_001353151.1 → NP_001340080.1  coiled-coil domain-containing protein 66 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:378 → 529
      CCDC66; Coiled-coil domain-containing protein 66

    8. NM_001353152.1 → NP_001340081.1  coiled-coil domain-containing protein 66 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Consensus CDS
      CCDS33770.2
      Conserved Domains (1) summary
      pfam15236
      Location:377 → 528
      CCDC66; Coiled-coil domain-containing protein 66

    9. NM_001353153.1 → NP_001340082.1  coiled-coil domain-containing protein 66 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Consensus CDS
      CCDS33770.2
      Conserved Domains (1) summary
      pfam15236
      Location:377 → 528
      CCDC66; Coiled-coil domain-containing protein 66

    10. NM_001353154.1 → NP_001340083.1  coiled-coil domain-containing protein 66 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (2) summary
      pfam15236
      Location:368 → 519
      CCDC66; Coiled-coil domain-containing protein 66
      cl25732
      Location:218 → 511
      SMC_N; RecF/RecN/SMC N terminal domain

    11. NM_001353155.1 → NP_001340084.1  coiled-coil domain-containing protein 66 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:361 → 512
      CCDC66; Coiled-coil domain-containing protein 66

    12. NM_001353156.1 → NP_001340085.1  coiled-coil domain-containing protein 66 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:112 → 263
      CCDC66; Coiled-coil domain-containing protein 66

    13. NM_001353158.1 → NP_001340087.1  coiled-coil domain-containing protein 66 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:69 → 220
      CCDC66; Coiled-coil domain-containing protein 66

    14. NM_001353160.1 → NP_001340089.1  coiled-coil domain-containing protein 66 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:47 → 198
      CCDC66; Coiled-coil domain-containing protein 66

    RNA

    1. NR_024460.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AL832692, AL833326, BC132827, BM874633, BU674751, DA017177
      Related
      ENST00000341455.10

    2. NR_148366.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633

    3. NR_148367.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633

    4. NR_148368.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633

    5. NR_148369.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633

    6. NR_148370.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Related
      ENST00000471681.5

    7. NR_148371.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633

    8. NR_148372.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633

    9. NR_148373.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633

    10. NR_148374.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633

    11. NR_148375.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633

    12. NR_148376.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633

    13. NR_148377.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633

    14. NR_148378.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633

    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
      56557156..56621837
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448017.1 → XP_047303973.1  coiled-coil domain-containing protein 66 isoform X3

    2. XM_047448018.1 → XP_047303974.1  coiled-coil domain-containing protein 66 isoform X4

    3. XM_011533616.4 → XP_011531918.1  coiled-coil domain-containing protein 66 isoform X3

      See identical proteins and their annotated locations for XP_011531918.1

      Conserved Domains (1) summary
      pfam15236
      Location:377 → 528
      CCDC66; Coiled-coil domain-containing protein 66

    4. XM_011533615.3 → XP_011531917.1  coiled-coil domain-containing protein 66 isoform X2

      See identical proteins and their annotated locations for XP_011531917.1

      Conserved Domains (1) summary
      pfam15236
      Location:378 → 529
      CCDC66; Coiled-coil domain-containing protein 66

    5. XM_005265083.5 → XP_005265140.1  coiled-coil domain-containing protein 66 isoform X5

      Conserved Domains (1) summary
      pfam15236
      Location:368 → 519
      CCDC66; Coiled-coil domain-containing protein 66

    6. XM_005265082.5 → XP_005265139.1  coiled-coil domain-containing protein 66 isoform X1

      Conserved Domains (1) summary
      pfam15236
      Location:404 → 555
      CCDC66; Coiled-coil domain-containing protein 66

    7. XM_047448019.1 → XP_047303975.1  coiled-coil domain-containing protein 66 isoform X6

    8. XM_024453462.2 → XP_024309230.1  coiled-coil domain-containing protein 66 isoform X3

      Conserved Domains (1) summary
      pfam15236
      Location:377 → 528
      CCDC66; Coiled-coil domain-containing protein 66

    9. XM_047448021.1 → XP_047303977.1  coiled-coil domain-containing protein 66 isoform X10

    10. XM_024453464.2 → XP_024309232.1  coiled-coil domain-containing protein 66 isoform X7

      Conserved Domains (1) summary
      pfam15236
      Location:211 → 362
      CCDC66; Coiled-coil domain-containing protein 66

    11. XM_017006239.2 → XP_016861728.1  coiled-coil domain-containing protein 66 isoform X8

      Conserved Domains (1) summary
      pfam15236
      Location:112 → 263
      CCDC66; Coiled-coil domain-containing protein 66

    12. XM_047448020.1 → XP_047303976.1  coiled-coil domain-containing protein 66 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      56597679..56662164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346304.1 → XP_054202279.1  coiled-coil domain-containing protein 66 isoform X3

    2. XM_054346305.1 → XP_054202280.1  coiled-coil domain-containing protein 66 isoform X4

    3. XM_054346303.1 → XP_054202278.1  coiled-coil domain-containing protein 66 isoform X3

    4. XM_054346302.1 → XP_054202277.1  coiled-coil domain-containing protein 66 isoform X2

    5. XM_054346306.1 → XP_054202281.1  coiled-coil domain-containing protein 66 isoform X12

    6. XM_054346301.1 → XP_054202276.1  coiled-coil domain-containing protein 66 isoform X11

    7. XM_054346307.1 → XP_054202282.1  coiled-coil domain-containing protein 66 isoform X13

    8. XM_054346308.1 → XP_054202283.1  coiled-coil domain-containing protein 66 isoform X3

    9. XM_054346313.1 → XP_054202288.1  coiled-coil domain-containing protein 66 isoform X15

    10. XM_054346309.1 → XP_054202284.1  coiled-coil domain-containing protein 66 isoform X7

    11. XM_054346310.1 → XP_054202285.1  coiled-coil domain-containing protein 66 isoform X8

    12. XM_054346311.1 → XP_054202286.1  coiled-coil domain-containing protein 66 isoform X9

    13. XM_054346312.1 → XP_054202287.1  coiled-coil domain-containing protein 66 isoform X14

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2RUB6.4 GenPept UniProtKB/Swiss-Prot:A2RUB6

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