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    CCDC172 coiled-coil domain containing 172 [ Homo sapiens (human) ]

    Gene ID: 374355, updated on 9-Dec-2024

    Summary

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    Official Symbol
    CCDC172provided by HGNC
    Official Full Name
    coiled-coil domain containing 172provided by HGNC
    Primary source
    HGNC:HGNC:30524
    See related
    Ensembl:ENSG00000182645 AllianceGenome:HGNC:30524
    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
    C10orf96
    Summary
    Predicted to be located in sperm midpiece. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 5.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC172 in Genome Data Viewer
    Location:
    10q25.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (116324448..116380029)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (117218440..117274006)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (118083960..118139541)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene GDNF family receptor alpha 1 Neighboring gene small nucleolar RNA, C/D box 158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118032883-118033720 Neighboring gene uncharacterized LOC107984273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2854 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 6 Neighboring gene pancreatic lipase related protein 3 Neighboring gene high mobility group box 3 pseudogene 8

    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. Molecular cloning and subcellular localization of Tektin2-binding protein 1 (Ccdc 172) in rat spermatozoa. Yamaguchi A, et al. J Histochem Cytochem, 2014 Apr. PMID 24394471, Free PMC Article
    2. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
    3. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article
    4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Yang X, et al. Cell, 2016 Feb 11. PMID 26871637, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    • MGC35062

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm midpiece ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 172
    Names
    UPF0628 protein C10orf96

    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_198515.3 → NP_940917.1  coiled-coil domain-containing protein 172

      See identical proteins and their annotated locations for NP_940917.1

      Status: VALIDATED

      Source sequence(s)
      AJ457798, BC044830
      Consensus CDS
      CCDS31291.1
      UniProtKB/Swiss-Prot
      P0C7W6
      Related
      ENSP00000329860.3, ENST00000333254.4
      Conserved Domains (1) summary
      cl25732
      Location:3 → 209
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      116324448..116380029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717820.5 → XP_006717883.1  coiled-coil domain-containing protein 172 isoform X2

      Conserved Domains (1) summary
      pfam04111
      Location:64 → 176
      APG6; Autophagy protein Apg6

    2. XM_011539771.3 → XP_011538073.1  coiled-coil domain-containing protein 172 isoform X3

      Conserved Domains (1) summary
      COG1196
      Location:3 → 209
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    3. XM_017016206.1 → XP_016871695.1  coiled-coil domain-containing protein 172 isoform X1

      UniProtKB/Swiss-Prot
      P0C7W6
      Conserved Domains (1) summary
      cl25732
      Location:3 → 209
      SMC_N; RecF/RecN/SMC N terminal domain

    4. XM_047425192.1 → XP_047281148.1  coiled-coil domain-containing protein 172 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      117218440..117274006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365800.1 → XP_054221775.1  coiled-coil domain-containing protein 172 isoform X2

    2. XM_054365801.1 → XP_054221776.1  coiled-coil domain-containing protein 172 isoform X3

    3. XM_054365799.1 → XP_054221774.1  coiled-coil domain-containing protein 172 isoform X1

      UniProtKB/Swiss-Prot
      P0C7W6

    4. XM_054365802.1 → XP_054221777.1  coiled-coil domain-containing protein 172 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C7W6.1 GenPept UniProtKB/Swiss-Prot:P0C7W6

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools