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

Gene ID: 374355, updated on 5-Mar-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 cytoplasm and sperm midpiece. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 5.2) See more
Orthologs
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Genomic context

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Location:
10q25.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (116324448..116380029)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (117218440..117274006)
105.20220307 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)

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

  • 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_2023_10

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

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