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

Gene ID: 285331, updated on 23-Nov-2023

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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (56557156..56621837)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (56597679..56662164)
105.20220307 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
  • 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. 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
  3. Circular RNA CCDC66 facilitates abdominal aortic aneurysm through the overexpression of CCDC66. Yang R, et al. Cell Biochem Funct, 2020 Oct. PMID 31997404
  4. 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
  5. 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

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Results associate a distinct retinal dystrophy phenotype with nicotinamide-nucleotide adenylyltransferase 1 protein (NMNAT1) mutation and suggest coiled-coil domain containing 66 (CCDC66) should not be considered a retinal dystrophy candidate gene.
    Title: Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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_2023_10

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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