Aliases for CCDC172 Gene

Aliases for CCDC172 Gene

  • Coiled-Coil Domain Containing 172 2 3 5
  • Coiled-Coil Domain-Containing Protein 172 3 4
  • C10orf96 3 4
  • Chromosome 10 Open Reading Frame 96 2
  • UPF0628 Protein C10orf96 3
  • MGC35062 2
  • CCDC172 5

External Ids for CCDC172 Gene

Previous HGNC Symbols for CCDC172 Gene

  • C10orf96

Previous GeneCards Identifiers for CCDC172 Gene

  • GC10P118083

Summaries for CCDC172 Gene

GeneCards Summary for CCDC172 Gene

CCDC172 (Coiled-Coil Domain Containing 172) is a Protein Coding gene. Diseases associated with CCDC172 include Stargardt Disease.

Additional gene information for CCDC172 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC172 Gene

Genomics for CCDC172 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC172 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J116324 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 600.7 +1.0 964 1.4 NANOG POLR2A CCDC172 piR-56341-021 PNLIPRP3
GH10J116398 Enhancer 0.6 Ensembl ENCODE 10.6 +74.3 74304 0.8 CTBP1 ESRRA ZNF217 DPF2 ELF1 SMARCE1 CCDC172 piR-33422-045 SNRPGP6 lnc-PNLIPRP3-1 PNLIPRP3
GH10J116278 Enhancer 0.5 ENCODE CraniofacialAtlas 0.3 -45.3 -45308 0.6 EZH2 SMARCA4 ENSG00000285587 GFRA1 LOC107984273 piR-44085-005 CCDC172
GH10J116326 Enhancer 0.2 Ensembl 0.7 +2.8 2804 0.6 CCDC172 piR-56341-021 PNLIPRP3
GH10J116296 Enhancer 0.3 ENCODE 0.3 -27.6 -27633 0.9 PRDM10 ATF2 piR-44085-005 GFRA1 C10orf82 CCDC172
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC172 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC172

Genomic Locations for CCDC172 Gene

Genomic Locations for CCDC172 Gene
55,933 bases
Plus strand
55,602 bases
Plus strand

Genomic View for CCDC172 Gene

Genes around CCDC172 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC172 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC172 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC172 Gene

Proteins for CCDC172 Gene

  • Protein details for CCDC172 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil domain-containing protein 172
    Protein Accession:

    Protein attributes for CCDC172 Gene

    258 amino acids
    Molecular mass:
    31035 Da
    Quaternary structure:
    • May interact with TEKT2.

neXtProt entry for CCDC172 Gene

Post-translational modifications for CCDC172 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC172 Gene

No data available for DME Specific Peptides for CCDC172 Gene

Domains & Families for CCDC172 Gene

Gene Families for CCDC172 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC172 Gene


Suggested Antigen Peptide Sequences for CCDC172 Gene

GenScript: Design optimal peptide antigens:
  • UPF0628 protein C10orf96 (CJ096_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CCDC172 family.
  • Belongs to the CCDC172 family.
genes like me logo Genes that share domains with CCDC172: view

Function for CCDC172 Gene

Phenotypes From GWAS Catalog for CCDC172 Gene

Gene Ontology (GO) - Molecular Function for CCDC172 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CCDC172: view

Phenotypes for CCDC172 Gene

genes like me logo Genes that share phenotypes with CCDC172: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC172

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC172 Gene

Localization for CCDC172 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC172 Gene

Cytoplasm. Cell projection, cilium. Note=In spermatozoa, localized in the middle piece, predominantly concentrated at the mitochondrial sheath of the flagella and to a lesser extent with outer dense fibers (ODF) (By similarity). Colocalized with TEKT2 at the perinuclear region (By similarity). {ECO:0000250 UniProtKB:Q6AXT4, ECO:0000250 UniProtKB:Q810N9}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC172 gene
Compartment Confidence
nucleus 2
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CCDC172 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
GO:0097225 sperm midpiece IEA,ISS --
genes like me logo Genes that share ontologies with CCDC172: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CCDC172 Gene

Pathways & Interactions for CCDC172 Gene

PathCards logo

SuperPathways for CCDC172 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC172 Gene


No data available for Pathways by source and SIGNOR curated interactions for CCDC172 Gene

Drugs & Compounds for CCDC172 Gene

No Compound Related Data Available

Transcripts for CCDC172 Gene

mRNA/cDNA for CCDC172 Gene

2 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC172

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC172 Gene

No ASD Table

Relevant External Links for CCDC172 Gene

GeneLoc Exon Structure for

Expression for CCDC172 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC172 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC172 Gene

This gene is overexpressed in Testis (x51.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC172 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC172

SOURCE GeneReport for Unigene cluster for CCDC172 Gene:


Evidence on tissue expression from TISSUES for CCDC172 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with CCDC172: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC172 Gene

Orthologs for CCDC172 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC172 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CCDC172 30 31
  • 99.22 (n)
(Canis familiaris)
Mammalia CCDC172 30 31
  • 90.57 (n)
(Bos Taurus)
Mammalia CCDC172 30 31
  • 89.49 (n)
(Mus musculus)
Mammalia Ccdc172 30 17 31
  • 80.42 (n)
(Rattus norvegicus)
Mammalia Ccdc172 30
  • 80.16 (n)
(Monodelphis domestica)
Mammalia CCDC172 31
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia CCDC172 31
  • 59 (a)
(Gallus gallus)
Aves C10ORF96 30
  • 69.05 (n)
CCDC172 31
  • 52 (a)
(Anolis carolinensis)
Reptilia CCDC172 31
  • 50 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc172 30
  • 56.88 (n)
(Danio rerio)
Actinopterygii ccdc172 30 31
  • 47.38 (n)
Species where no ortholog for CCDC172 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CCDC172 Gene

Gene Tree for CCDC172 (if available)
Gene Tree for CCDC172 (if available)
Evolutionary constrained regions (ECRs) for CCDC172: view image

Paralogs for CCDC172 Gene

No data available for Paralogs for CCDC172 Gene

Variants for CCDC172 Gene

Additional dbSNP identifiers (rs#s) for CCDC172 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC172 Gene

Variant ID Type Subtype PubMed ID
esv3303851 CNV mobile element insertion 20981092
esv3309037 CNV mobile element insertion 20981092
esv3341817 CNV insertion 20981092
esv3345160 CNV insertion 20981092
nsv1046807 CNV loss 25217958
nsv1047591 CNV loss 25217958
nsv7211 OTHER inversion 18451855
nsv832000 CNV gain 17160897
nsv832001 CNV loss 17160897

Variation tolerance for CCDC172 Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC172 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC172 Gene

Disorders for CCDC172 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC172 Gene - From: DISEASES

Disorder Aliases PubMed IDs
stargardt disease
  • stargardt disease 1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CCDC172: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC172 Gene

Publications for CCDC172 Gene

  1. Molecular cloning and subcellular localization of Tektin2-binding protein 1 (Ccdc 172) in rat spermatozoa. (PMID: 24394471) Yamaguchi A … Iida H (The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2014) 2 3
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for CCDC172 Gene

Sources for CCDC172 Gene