CCDC124 Gene (Protein Coding)

Coiled-Coil Domain Containing 124

GC19P020732
GIFtS:
32

Aliases for CCDC124 Gene

Aliases for CCDC124 Gene

  • Coiled-Coil Domain Containing 124 2 3 5
  • Coiled-Coil Domain-Containing Protein 124 3 4

External Ids for CCDC124 Gene

Previous GeneCards Identifiers for CCDC124 Gene

  • GC19P017911
  • GC19P018043
  • GC19P017608
  • GC19P017977
  • GC19P018178
  • GC19P020485
  • GC19P020627
  • GC19P018297
  • GC19P018330
  • GC19P018704
  • GC19P019013
  • GC19P019331
  • GC19P019667
  • GC19P020028
  • GC19P020343

Summaries for CCDC124 Gene

GeneCards Summary for CCDC124 Gene

CCDC124 (Coiled-Coil Domain Containing 124) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for CCDC124 Gene

Additional gene information for CCDC124 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC124 Gene

Genomics for CCDC124 Gene

GeneHancer (GH) Regulatory Elements for CCDC124 Gene

Promoters and enhancers for CCDC124 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
GH19J017931 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 758.4 -0.1 -60 2.9 ZBTB40 CTCF SIX5 ZBTB6 RBPJ POLR2A USF2 ATF1 CREB1 HCFC1 CCDC124 HAUS8 UPF1 COLGALT1 ENSG00000268030 ELL ENSG00000268938 MVB12A UBA52 RPL18A
GH19J017935 Promoter 0.3 EPDnew 750.6 +2.1 2059 0.1 CCDC124 NONHSAG025112.2 L13712-014 RF00017-2890
GH19J017946 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.6 +16.3 16336 4.8 POLR2A TEAD4 MNT ZNF148 NKRF CSDE1 ZFX MLLT1 SP7 ZSCAN21 KCNN1 5EW4_A-029 CCDC124 ANO8 UNC13A L13712-014 RF00017-2890
GH19J017942 Enhancer 1 ENCODE CraniofacialAtlas 11.9 +10.4 10446 2.6 SMARCE1 L3MBTL2 DACH1 TEAD4 ZNF148 ZFX ZNF639 EGR1 GMEB1 IKZF1 CCDC124 5EW4_A-029 NONHSAG025112.2 L13712-014 RF00017-2890
GH19J017939 Enhancer 0.8 Ensembl 14.1 +5.8 5785 0.4 CTCF RBPJ MYC CC2D1A RAD21 MNT MLLT1 SP7 ARID2 REST CCDC124 ANO8 NONHSAG025112.2 5EW4_A-029 L13712-014 RF00017-2890
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC124 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC124 gene promoter:
  • AP-4
  • Egr-4
  • MIF-1
  • SEF-1 (1)
  • YY1

Genomic Locations for CCDC124 Gene

Genomic Locations for CCDC124 Gene
chr19:17,933,015-17,943,991
(GRCh38/hg38)
Size:
10,977 bases
Orientation:
Plus strand
chr19:18,043,824-18,054,800
(GRCh37/hg19)
Size:
10,977 bases
Orientation:
Plus strand

Genomic View for CCDC124 Gene

Genes around CCDC124 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC124 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC124 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CCDC124 Gene

Proteins for CCDC124 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CCDC124 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CT7-CC124_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 124
    Protein Accession:
    Q96CT7

    Protein attributes for CCDC124 Gene

    Size:
    223 amino acids
    Molecular mass:
    25835 Da
    Quaternary structure:
    • Interacts with RASGEF1B.

neXtProt entry for CCDC124 Gene

Protein Expression for CCDC124 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CCDC124 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC124 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC124 Gene

Domains & Families for CCDC124 Gene

Gene Families for CCDC124 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC124 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC124 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 124 (CC124_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96CT7

UniProtKB/Swiss-Prot:

CC124_HUMAN :
  • Belongs to the CCDC124 family.
Family:
  • Belongs to the CCDC124 family.
genes like me logo Genes that share domains with CCDC124: view

Function for CCDC124 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CCDC124 Gene

UniProtKB/Swiss-Prot Function:
Required for proper progression of late cytokinetic stages.

Phenotypes From GWAS Catalog for CCDC124 Gene

Gene Ontology (GO) - Molecular Function for CCDC124 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
genes like me logo Genes that share ontologies with CCDC124: view
genes like me logo Genes that share phenotypes with CCDC124: view

Animal Models for CCDC124 Gene

MGI Knock Outs for CCDC124:

Animal Model Products

CRISPR Products

miRNA for CCDC124 Gene

miRTarBase miRNAs that target CCDC124

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCDC124 Gene

Localization for CCDC124 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC124 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Midbody. Note=Colocalizes with gamma-tubulin at interphase, prophase, metaphase, and anaphase. Relocates from centrosome to midbody at telophase.

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 CCDC124 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 3
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC124 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with CCDC124: view

Pathways & Interactions for CCDC124 Gene

PathCards logo

SuperPathways for CCDC124 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC124 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with CCDC124: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC124 Gene

Drugs & Compounds for CCDC124 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for CCDC124 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CCDC124 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(221) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC124 Gene

No ASD Table

Relevant External Links for CCDC124 Gene

GeneLoc Exon Structure for
CCDC124
ECgene alternative splicing isoforms for
CCDC124

Expression for CCDC124 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC124 Gene

mRNA expression in normal human tissues for CCDC124 Gene
mRNA expression by GTEx for CCDC124 GenemRNA expression by BioGPS for CCDC124 Gene

Protein differential expression in normal tissues from HIPED for CCDC124 Gene

This gene is overexpressed in Bone marrow stromal cell (15.3), Peripheral blood mononuclear cells (8.4), and Bone (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC124 Gene



Protein tissue co-expression partners for CCDC124 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC124 Gene:

CCDC124

SOURCE GeneReport for Unigene cluster for CCDC124 Gene:

Hs.100043

mRNA Expression by UniProt/SwissProt for CCDC124 Gene:

Q96CT7-CC124_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for CCDC124 Gene

  • Lung(4.4)
  • Muscle(2.2)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with CCDC124: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC124 Gene

Orthologs for CCDC124 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCDC124 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CCDC124 33 32
  • 99.7 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia -- 33
  • 96 (a)
 OneToMany
CCDC124 32
  • 90.28 (n)
-- 33
  • 68 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia CCDC124 33 32
  • 89.09 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ccdc124 17 33 32
  • 84.33 (n)
rat
(Rattus norvegicus)
 Mammalia Ccdc124 32
  • 84.02 (n)
oppossum
(Monodelphis domestica)
 Mammalia CCDC124 33
  • 83 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CCDC124 33
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CCDC124 33 32
  • 76.92 (n)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ccdc124 32
  • 69.44 (n)
Str.3911 32
African clawed frog
(Xenopus laevis)
 Amphibia Xl.3532 32
zebrafish
(Danio rerio)
 Actinopterygii ccdc124 33 32
  • 68.99 (n)
 OneToOne
-- 32
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004110 32
  • 60.07 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG6013 33 32
  • 56.09 (n)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea Y73E7A.1 33 32
  • 55.45 (n)
 OneToOne
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G16210 32
  • 50.23 (n)
rice
(Oryza sativa)
 Liliopsida Os04g0561600 32
  • 55.77 (n)
Species where no ortholog for CCDC124 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CCDC124 Gene

ENSEMBL:
Gene Tree for CCDC124 (if available)
TreeFam:
Gene Tree for CCDC124 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC124: view image

Paralogs for CCDC124 Gene

No data available for Paralogs for CCDC124 Gene

Variants for CCDC124 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CCDC124 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000150866 -- 17,933,451(+) C/G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000286032 -- 17,939,107(+) G/A intron_variant
rs1000347128 -- 17,943,969(+) A/G 3_prime_UTR_variant
rs1000471513 -- 17,934,603(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000478939 -- 17,943,872(+) C/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC124 Gene

Variant ID Type Subtype PubMed ID
esv2232366 CNV deletion 18987734
esv2667655 CNV deletion 23128226
nsv470130 CNV loss 18288195
nsv833772 CNV gain+loss 17160897

Variation tolerance for CCDC124 Gene

Residual Variation Intolerance Score: 70.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.77; 47.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC124 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC124

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC124 Gene

Disorders for CCDC124 Gene

Additional Disease Information for CCDC124

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CCDC124 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC124 Gene

Publications for CCDC124 Gene

  1. Coiled-coil domain containing protein 124 is a novel centrosome and midbody protein that interacts with the Ras-guanine nucleotide exchange factor 1B and is involved in cytokinesis. (PMID: 23894443) Telkoparan P … Tazebay UH (PloS one 2013) 2 3 4 56
  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 56
  3. ATG5 is required for B cell polarization and presentation of particulate antigens. (PMID: 30196744) Arbogast F … Gros F (Autophagy 2019) 3 56
  4. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3 56
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 56

ExternalLinks

View latest publications for CCDC124 gene in Mastermind

Products for CCDC124 Gene

  • Biorbyt antibodies for CCDC124

Sources for CCDC124 Gene