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Aliases for CCDC171 Gene

Aliases for CCDC171 Gene

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

External Ids for CCDC171 Gene

Previous HGNC Symbols for CCDC171 Gene

  • C9orf93

Summaries for CCDC171 Gene

GeneCards Summary for CCDC171 Gene

CCDC171 (Coiled-Coil Domain Containing 171) is a Protein Coding gene. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and signal transducer activity.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC171 Gene

Genomics for CCDC171 Gene

Regulatory Elements for CCDC171 Gene

Enhancers for CCDC171 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G015935 2 FANTOM5 ENCODE 13.9 +383.5 383501 1.1 CTCF FEZF1 RAD21 ZNF2 EP300 ZNF843 OSR2 ZNF335 ZNF366 WT1 CCDC171 GC09P015935 GC09P015957
GH09G015551 1.1 ENCODE 13.4 +0.3 333 2.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF207 ZNF143 CCDC171 LOC389705 ENSG00000272871 GC09M015564
GH09G016039 1.2 Ensembl ENCODE dbSUPER 11.7 +487.5 487453 2.4 CTCF CBX3 TEAD4 ZIC2 RAD21 CTBP1 ZFHX2 EGR2 HLF BHLHE40 CCDC171 GC09P015957 GC09P016216
GH09G016028 1.1 ENCODE dbSUPER 12.6 +477.9 477923 5.4 TBP CTCF TAF1 MAX RAD21 E2F1 POLR3A EED SMC3 FOS CCDC171 GC09P015957 GC09P016216
GH09G015508 1.4 ENCODE dbSUPER 7.8 -41.8 -41792 5.9 HDGF FOXA2 PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 PSIP1 CCDC171 SNAPC3 ENSG00000278754
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC171 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC171 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000233397 226 2201 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF207

Genomic Location for CCDC171 Gene

Chromosome:
9
Start:
15,552,874 bp from pter
End:
16,061,663 bp from pter
Size:
508,790 bases
Orientation:
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:
    Q6TFL3-CC171_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 171
    Protein Accession:
    Q6TFL3
    Secondary Accessions:
    • B7ZM22
    • Q5SU58
    • Q6P1W1
    • Q6ZR13
    • Q8N1Z4
    • Q8N8L3
    • Q8TBR2

    Protein attributes for CCDC171 Gene

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

    Alternative splice isoforms for CCDC171 Gene

    UniProtKB/Swiss-Prot:

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

Protein Domains for CCDC171 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CCDC171 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for CCDC171 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

COMPARTMENTS
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

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

Pathways & Interactions for CCDC171 Gene

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
RPGRIP1L

Gene Ontology (GO) - Biological Process for CCDC171 Gene

None

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

Unigene Clusters for CCDC171 Gene

Coiled-coil domain containing 171:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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: -
SP3:
SP4:

ExUns: 24 ^ 25a · 25b ^ 26 ^ 27a · 27b
SP1: -
SP2:
SP3:
SP4: - - -

Relevant External Links for CCDC171 Gene

GeneLoc Exon Structure for
CCDC171
ECgene alternative splicing isoforms for
CCDC171

Expression for CCDC171 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC171 Gene:

CCDC171

SOURCE GeneReport for Unigene cluster for CCDC171 Gene:

Hs.17267
genes like me logo Genes that share expression patterns with CCDC171: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia CCDC171 34 35
  • 99.4 (n)
dog
(Canis familiaris)
Mammalia CCDC171 34 35
  • 92.83 (n)
cow
(Bos Taurus)
Mammalia CCDC171 34 35
  • 92.15 (n)
mouse
(Mus musculus)
Mammalia Ccdc171 34 16 35
  • 85.22 (n)
rat
(Rattus norvegicus)
Mammalia RGD1560884 34
  • 85.2 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC171 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC171 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves C9ORF93 34
  • 72.97 (n)
CCDC171 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC171 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc171 34
  • 59.1 (n)
Str.18178 34
zebrafish
(Danio rerio)
Actinopterygii si:ch211-116m6.4 34
  • 49.39 (n)
CCDC171 35
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 27 (a)
OneToOne
Species where no ortholog for CCDC171 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

ENSEMBL:
Gene Tree for CCDC171 (if available)
TreeFam:
Gene Tree for CCDC171 (if available)

Paralogs for CCDC171 Gene

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

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 from dbSNP and Humsavar for CCDC171 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs193920965 Uncertain significance 15,744,627(+) TATTT(C/T)GGAAA nc-transcript-variant, reference, missense
rs1000003196 -- 15,616,333(+) TACCC(A/C)CCTTG intron-variant
rs1000006938 -- 15,570,734(+) TTCTG(C/G)CAAGA intron-variant, upstream-variant-2KB
rs1000011310 -- 15,564,004(+) AGCCA(C/T)AGACA nc-transcript-variant, utr-variant-5-prime
rs1000012147 -- 16,040,107(+) GGGCC(A/G)GCTGG intron-variant

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)

Relevant External Links for CCDC171 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC171

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

Disorders for CCDC171 Gene

Relevant External Links for CCDC171

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC171

No disorders were found for CCDC171 Gene.

No data available for MalaCards , 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. (Nat. Genet. 2004) 2 3 4 64
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 64
  5. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. (PMID: 19490893) Luo J. … Elledge S.J. (Cell 2009) 3 64

Products for CCDC171 Gene

Sources for CCDC171 Gene

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