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Aliases for CCDC141 Gene

Aliases for CCDC141 Gene

  • Coiled-Coil Domain Containing 141 2 3 5
  • Coiled-Coil Protein Associated With Myosin II And DISC1 2 3 4
  • CAMDI 3 4
  • Coiled-Coil Domain-Containing Protein 141 3

External Ids for CCDC141 Gene

Previous GeneCards Identifiers for CCDC141 Gene

  • GC02M179407
  • GC02M179694
  • GC02M171562

Summaries for CCDC141 Gene

GeneCards Summary for CCDC141 Gene

CCDC141 (Coiled-Coil Domain Containing 141) is a Protein Coding gene. Diseases associated with CCDC141 include Kallmann Syndrome and Hypogonadotropic Hypogonadism 7 With Or Without Anosmia. Gene Ontology (GO) annotations related to this gene include nucleotide binding.

UniProtKB/Swiss-Prot for CCDC141 Gene

  • Plays a critical role in radial migration and centrosomal function.

Additional gene information for CCDC141 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC141 Gene

Genomics for CCDC141 Gene

GeneHancer (GH) Regulatory Elements for CCDC141 Gene

Promoters and enhancers for CCDC141 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I179048 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 0.0 -15 4.2 SCRT1 ZBED1 EBF1 NR2F2 ZNF217 POLR2A SCRT2 NBN ZBTB33 RCOR1 CCDC141 GC02P179069
GH02I178862 Enhancer 1 Ensembl ENCODE dbSUPER 7.6 +185.6 185567 3.4 SMAD1 NFIA NFIB GABPA ZFHX2 NFIC LCORL JUND POLR2A IKZF1 RNU7-104P TTN CCDC141 PRKRA LOC105373766 GC02P178916
GH02I179030 Enhancer 1.1 FANTOM5 Ensembl ENCODE 6.8 +18.3 18261 2.2 SMAD1 EBF1 BATF IRF4 RELA ZNF335 POLR2A NFATC1 ZSCAN29 ETV6 SESTD1 CCDC141 GC02P179029
GH02I178891 Enhancer 0.6 dbSUPER 8.3 +157.5 157490 1.5 CTCF PKNOX1 MAFG ZNF316 POLR2A NFE2 EMSY MAFK NFE2L2 SESTD1 CCDC141 GC02P178916 RNU7-104P LOC105373766
GH02I178880 Enhancer 0.5 dbSUPER 9.2 +169.6 169565 0.6 ATF1 ZBTB21 ZNF133 CREB1 ATF7 ATF2 CCDC141 GC02P178916 RNU7-104P LOC105373766
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC141 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC141 gene promoter:

Genomic Locations for CCDC141 Gene

Genomic Locations for CCDC141 Gene
chr2:178,829,757-179,050,118
(GRCh38/hg38)
Size:
220,362 bases
Orientation:
Minus strand
chr2:179,694,484-179,914,813
(GRCh37/hg19)

Genomic View for CCDC141 Gene

Genes around CCDC141 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC141 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC141 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC141 Gene

Proteins for CCDC141 Gene

  • Protein details for CCDC141 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZP82-CC141_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 141
    Protein Accession:
    Q6ZP82
    Secondary Accessions:
    • H7C0P1
    • J3KNW6
    • Q8N8H3

    Protein attributes for CCDC141 Gene

    Size:
    1450 amino acids
    Molecular mass:
    166261 Da
    Quaternary structure:
    • Interacts with DISC1. Interacts preferentially with phosphorylated forms of myosin regulatory light chain (MRLC).
    SequenceCaution:
    • Sequence=AAI15379.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAX88845.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAC04869.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04869.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305}; Sequence=BAC85242.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC141 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC141 Gene

Post-translational modifications for CCDC141 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC141 Gene

Domains & Families for CCDC141 Gene

Gene Families for CCDC141 Gene

Protein Domains for CCDC141 Gene

Suggested Antigen Peptide Sequences for CCDC141 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC141: view

No data available for UniProtKB/Swiss-Prot for CCDC141 Gene

Function for CCDC141 Gene

Molecular function for CCDC141 Gene

UniProtKB/Swiss-Prot Function:
Plays a critical role in radial migration and centrosomal function.

Phenotypes From GWAS Catalog for CCDC141 Gene

Gene Ontology (GO) - Molecular Function for CCDC141 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12812986
genes like me logo Genes that share ontologies with CCDC141: view

Human Phenotype Ontology for CCDC141 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC141 Gene

Localization for CCDC141 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC141 Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Co-localized with DISC1 at/around the centrosome. Localizes to the centrosome, at least in part, in a DISC1-dependent manner. {ECO:0000250 UniProtKB:A2AST1}.

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 CCDC141 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 3
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCDC141 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with CCDC141: view

Pathways & Interactions for CCDC141 Gene

SuperPathways for CCDC141 Gene

No Data Available

Interacting Proteins for CCDC141 Gene

Gene Ontology (GO) - Biological Process for CCDC141 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC141 Gene

Drugs & Compounds for CCDC141 Gene

No Compound Related Data Available

Transcripts for CCDC141 Gene

Unigene Clusters for CCDC141 Gene

Coiled-coil domain containing 141:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC141 Gene

No ASD Table

Relevant External Links for CCDC141 Gene

GeneLoc Exon Structure for
CCDC141
ECgene alternative splicing isoforms for
CCDC141

Expression for CCDC141 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC141 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC141 Gene

This gene is overexpressed in Heart - Left Ventricle (x24.7) and Heart - Atrial Appendage (x13.0).

Protein differential expression in normal tissues from HIPED for CCDC141 Gene

This gene is overexpressed in CD4 Tcells (14.7), Liver, secretome (12.4), Fetal heart (10.7), Heart (10.5), and Monocytes (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC141 Gene



NURSA nuclear receptor signaling pathways regulating expression of CCDC141 Gene:

CCDC141

SOURCE GeneReport for Unigene cluster for CCDC141 Gene:

Hs.324341

Evidence on tissue expression from TISSUES for CCDC141 Gene

  • Heart(4.6)
genes like me logo Genes that share expression patterns with CCDC141: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC141 Gene

Orthologs for CCDC141 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC141 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC141 33 34
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia CCDC141 33 34
  • 87.21 (n)
cow
(Bos Taurus)
Mammalia LOC530799 33
  • 85.23 (n)
CCDC141 34
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc141 33 16 34
  • 80.1 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc141 33
  • 79.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CCDC141 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC141 33 34
  • 65.37 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC141 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc141 33
  • 57.86 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-122a11.1 33
  • 53.26 (n)
CCDC141 (1 of 2) 34
  • 45 (a)
OneToMany
CCDC141 (2 of 2) 34
  • 29 (a)
OneToMany
Species where no ortholog for CCDC141 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 squirt (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 CCDC141 Gene

ENSEMBL:
Gene Tree for CCDC141 (if available)
TreeFam:
Gene Tree for CCDC141 (if available)

Paralogs for CCDC141 Gene

(2) SIMAP similar genes for CCDC141 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CCDC141: view

No data available for Paralogs for CCDC141 Gene

Variants for CCDC141 Gene

Sequence variations from dbSNP and Humsavar for CCDC141 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000004807 -- 178,980,798(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000009157 -- 179,036,374(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000018461 -- 178,855,071(-) G/A/T genic_downstream_transcript_variant, intron_variant
rs1000046366 -- 178,946,028(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000049410 -- 178,859,626(-) G/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC141 Gene

Variant ID Type Subtype PubMed ID
esv3305748 CNV mobile element insertion 20981092
esv3435405 CNV insertion 20981092
esv3584197 CNV loss 25503493
esv3593495 CNV gain 21293372
esv3593496 CNV loss 21293372
esv3593498 CNV loss 21293372
esv3593499 CNV loss 21293372
esv3593500 CNV loss 21293372
esv3893509 CNV loss 25118596
nsv1000545 CNV gain 25217958
nsv1131532 CNV deletion 24896259
nsv3059 CNV insertion 18451855
nsv477711 CNV novel sequence insertion 20440878
nsv508184 CNV deletion 20534489
nsv521818 CNV loss 19592680
nsv583756 CNV loss 21841781
nsv834470 CNV gain 17160897

Variation tolerance for CCDC141 Gene

Gene Damage Index Score: 9.50; 88.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC141 Gene

Human Gene Mutation Database (HGMD)
CCDC141
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC141

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC141 Gene

Disorders for CCDC141 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CCDC141 Gene - From: HGMD, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kallmann syndrome
  • familial hypogonadism with anosmia
hypogonadotropic hypogonadism 7 with or without anosmia
  • hh7
schizophrenia 1
  • sczd1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC141

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CCDC141: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC141 Gene

Publications for CCDC141 Gene

  1. CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration. (PMID: 20956536) Fukuda T … Yanagi S (The Journal of biological chemistry 2010) 2 3 4 58
  2. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism. (PMID: 28324054) Turan I … Topaloglu AK (The Journal of clinical endocrinology and metabolism 2017) 3 58
  5. CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. (PMID: 27014940) Hutchins BI … Wray S (Endocrinology 2016) 3 58

Products for CCDC141 Gene

Sources for CCDC141 Gene

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