Aliases for CCDC171 Gene

Aliases for CCDC171 Gene

  • Coiled-Coil Domain Containing 171 2 3 5
  • Coiled-Coil Domain-Containing Protein 171 3 4
  • Myosin Tail Domain Containing Protein 2 3
  • BA536D16.1 2 3
  • BA778P13.1 2 3
  • C9orf93 3 4
  • Chromosome 9 Open Reading Frame 93 2
  • Em:AL513423.1 2
  • FLJ39267 2
  • FLJ46740 2
  • CCDC171 5

External Ids for CCDC171 Gene

Previous HGNC Symbols for CCDC171 Gene

  • C9orf93

Previous GeneCards Identifiers for CCDC171 Gene

  • GC09P015554
  • GC09P015557

Summaries for CCDC171 Gene

GeneCards Summary for CCDC171 Gene

CCDC171 (Coiled-Coil Domain Containing 171) is a Protein Coding gene. Diseases associated with CCDC171 include Kartagener Syndrome. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and obsolete signal transducer activity.

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 CCDC171 Gene

Genomics for CCDC171 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC171 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC171 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC171

Genomic Locations for CCDC171 Gene

Latest Assembly
509,558 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
420,997 bases
Plus strand

(GRCh37/hg19 by Ensembl)
508,767 bases
Plus strand

Genomic View for CCDC171 Gene

Genes around CCDC171 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC171 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC171 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC171 Gene

Proteins for CCDC171 Gene

  • Protein details for CCDC171 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil domain-containing protein 171
    Protein Accession:
    Secondary Accessions:
    • B7ZM22
    • Q5SU58
    • Q6P1W1
    • Q6ZR13
    • Q8N1Z4
    • Q8N8L3
    • Q8TBR2

    Protein attributes for CCDC171 Gene

    1326 amino acids
    Molecular mass:
    152810 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC04370.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC04823.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC87511.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC171 Gene


neXtProt entry for CCDC171 Gene

Post-translational modifications for CCDC171 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC171 Gene

Domains & Families for CCDC171 Gene

Gene Families for CCDC171 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC171 Gene


Suggested Antigen Peptide Sequences for CCDC171 Gene

GenScript: Design optimal peptide antigens:
  • C9orf93 protein (B7ZM22_HUMAN)
  • Chromosome 9 open reading frame 93 (Q5JST2_HUMAN)
  • Chromosome 9 open reading frame 93 (Q5JST5_HUMAN)
genes like me logo Genes that share domains with CCDC171: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC171 Gene

Function for CCDC171 Gene

Phenotypes From GWAS Catalog for CCDC171 Gene

genes like me logo Genes that share phenotypes with CCDC171: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC171

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC171 Gene

Localization for CCDC171 Gene

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 CCDC171 gene
Compartment Confidence
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC171 Gene

Pathways & Interactions for CCDC171 Gene

PathCards logo

SuperPathways for CCDC171 Gene

No Data Available

Interacting Proteins for CCDC171 Gene

Selected Interacting proteins: Q6TFL3-CC171_HUMAN for CCDC171 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for CCDC171 Gene


No data available for Pathways by source and SIGNOR curated interactions for CCDC171 Gene

Drugs & Compounds for CCDC171 Gene

No Compound Related Data Available

Transcripts for CCDC171 Gene

mRNA/cDNA for CCDC171 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC171

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC171 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^
SP1: -
SP2: -

ExUns: 24 ^ 25a · 25b ^ 26 ^ 27a · 27b
SP1: -
SP4: - - -

Relevant External Links for CCDC171 Gene

GeneLoc Exon Structure for

Expression for CCDC171 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC171 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC171 Gene

This gene is overexpressed in Testis (x6.1).

Protein differential expression in normal tissues from HIPED for CCDC171 Gene

This gene is overexpressed in Lung (33.4), Brain (21.2), and Pancreas (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC171 Gene

Protein tissue co-expression partners for CCDC171 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC171

SOURCE GeneReport for Unigene cluster for CCDC171 Gene:

genes like me logo Genes that share expression patterns with CCDC171: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC171 Gene

Orthologs for CCDC171 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC171 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CCDC171 29 30
  • 99.4 (n)
(Canis familiaris)
Mammalia CCDC171 29 30
  • 92.83 (n)
(Bos Taurus)
Mammalia CCDC171 29 30
  • 92.15 (n)
(Mus musculus)
Mammalia Ccdc171 29 16 30
  • 85.22 (n)
(Rattus norvegicus)
Mammalia RGD1560884 29
  • 85.2 (n)
(Monodelphis domestica)
Mammalia CCDC171 30
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia CCDC171 30
  • 67 (a)
(Gallus gallus)
Aves C9ORF93 29
  • 72.97 (n)
CCDC171 30
  • 62 (a)
(Anolis carolinensis)
Reptilia CCDC171 30
  • 67 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc171 29
  • 59.1 (n)
Str.18178 29
(Danio rerio)
Actinopterygii si:ch211-116m6.4 29
  • 49.39 (n)
CCDC171 30
  • 32 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 27 (a)
Species where no ortholog for CCDC171 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 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 CCDC171 Gene

Gene Tree for CCDC171 (if available)
Gene Tree for CCDC171 (if available)
Evolutionary constrained regions (ECRs) for CCDC171: view image
Alliance of Genome Resources:
Additional Orthologs for CCDC171

Paralogs for CCDC171 Gene

(3) SIMAP similar genes for CCDC171 Gene using alignment to 3 proteins:

  • CC171_HUMAN
  • H0Y5M5_HUMAN
  • H0Y701_HUMAN
genes like me logo Genes that share paralogs with CCDC171: view

No data available for Paralogs for CCDC171 Gene

Variants for CCDC171 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC171 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs115940611 Benign: not provided 15,578,892(+) T/C
NM_173550.4(CCDC171):c.221T>C (p.Val74Ala)
rs193920965 Uncertain Significance: Malignant tumor of prostate 15,744,627(+) C/T
NM_173550.4(CCDC171):c.2404C>T (p.Arg802Trp)
rs75279374 Benign: not provided 15,723,684(+) A/C
NM_173550.4(CCDC171):c.1429A>C (p.Lys477Gln)
rs79919960 Benign: not provided 15,744,644(+) T/A
NM_173550.4(CCDC171):c.2421T>A (p.Ala807=)
rs10962127 -- p.Asn495Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCDC171 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CCDC171 Gene

Variant ID Type Subtype PubMed ID
dgv12574n54 CNV loss 21841781
dgv12575n54 CNV loss 21841781
dgv12576n54 CNV gain+loss 21841781
dgv12577n54 CNV loss 21841781
dgv3958n106 CNV deletion 24896259
dgv3959n106 CNV deletion 24896259
dgv478e215 CNV deletion 23714750
dgv7461n100 CNV loss 25217958
dgv927n27 CNV loss 19166990
esv1789194 CNV deletion 17803354
esv1987381 CNV deletion 18987734
esv2344651 CNV deletion 18987734
esv2554638 CNV deletion 19546169
esv25948 CNV gain+loss 19812545
esv2656489 CNV deletion 23128226
esv2661119 CNV deletion 23128226
esv2668193 CNV deletion 23128226
esv2677629 CNV deletion 23128226
esv2677808 CNV deletion 23128226
esv2738230 CNV deletion 23290073
esv2738231 CNV deletion 23290073
esv2738232 CNV deletion 23290073
esv2738233 CNV deletion 23290073
esv2752286 CNV loss 17911159
esv3123400 CNV deletion 24192839
esv3268606 CNV deletion 24192839
esv32957 CNV loss 17666407
esv3303755 CNV mobile element insertion 20981092
esv3356076 CNV insertion 20981092
esv3544588 CNV deletion 23714750
esv3544590 CNV deletion 23714750
esv3573150 CNV loss 25503493
esv3573151 CNV loss 25503493
esv3619783 CNV loss 21293372
esv3619784 CNV loss 21293372
esv3619785 CNV loss 21293372
esv3619786 CNV loss 21293372
esv3619788 CNV loss 21293372
esv3619789 CNV loss 21293372
esv3619790 CNV loss 21293372
esv3619791 CNV loss 21293372
esv3619792 CNV loss 21293372
esv3619793 CNV loss 21293372
esv3619794 CNV loss 21293372
esv3619796 CNV loss 21293372
esv3619797 CNV loss 21293372
esv3619799 CNV loss 21293372
esv3619800 CNV loss 21293372
esv5520 CNV loss 19470904
esv989500 CNV deletion 20482838
nsv1028357 CNV loss 25217958
nsv1034795 CNV loss 25217958
nsv1074304 CNV deletion 25765185
nsv436605 CNV deletion 17901297
nsv472534 CNV novel sequence insertion 20440878
nsv499777 CNV loss 21111241
nsv508536 CNV deletion 20534489
nsv511422 CNV loss 21212237
nsv511428 CNV gain 21212237
nsv515130 CNV loss 21397061
nsv519593 CNV loss 19592680
nsv527616 CNV loss 19592680
nsv528964 CNV gain 19592680
nsv613654 CNV loss 21841781
nsv613655 CNV gain 21841781
nsv613656 CNV loss 21841781
nsv613660 CNV gain 21841781
nsv613662 CNV gain 21841781
nsv613664 CNV gain 21841781
nsv613665 CNV loss 21841781
nsv6485 CNV insertion 18451855
nsv6486 CNV deletion 18451855
nsv821345 CNV deletion 20802225
nsv824862 CNV loss 20364138
nsv824863 CNV gain 20364138
nsv824865 CNV loss 20364138
nsv950842 CNV duplication 24416366
nsv982197 CNV duplication 23825009

Variation tolerance for CCDC171 Gene

Residual Variation Intolerance Score: 28.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.75; 98.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC171 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC171 Gene

Disorders for CCDC171 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC171 Gene - From: COP

Disorder Aliases PubMed IDs
kartagener syndrome
  • kartagener's syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC171

genes like me logo Genes that share disorders with CCDC171: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC171 Gene

Publications for CCDC171 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  4. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. (PMID: 31586073) Capalbo L … D'Avino PP (Nature communications 2019) 3
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3

Products for CCDC171 Gene

Sources for CCDC171 Gene