Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CCDC28A Gene

Aliases for CCDC28A Gene

  • Coiled-Coil Domain Containing 28A 2 3 5
  • C6orf80 3 4
  • CCRL1AP 3 4
  • Chemokine C-C Motif Receptor-Like 1 Adjacent 3
  • Coiled-Coil Domain-Containing Protein 28A 3
  • Chromosome 6 Open Reading Frame 80 2

External Ids for CCDC28A Gene

Previous HGNC Symbols for CCDC28A Gene

  • C6orf80

Previous GeneCards Identifiers for CCDC28A Gene

  • GC06P139137
  • GC06P139138
  • GC06P139094
  • GC06P136656

Summaries for CCDC28A Gene

Entrez Gene Summary for CCDC28A Gene

  • This gene encodes a coiled-coil domain containing protein. Although the specific function of this gene has not yet been determined, this gene is a known translocation partner of nucleoporin 98 in acute leukemias. The resulting fusion gene produces a nucleoporin 98-coiled-coil domain-containing protein 28A chimeric protein which may be involved in promoting myeloproliferative neoplasms. [provided by RefSeq, Jan 2017]

GeneCards Summary for CCDC28A Gene

CCDC28A (Coiled-Coil Domain Containing 28A) is a Protein Coding gene. An important paralog of this gene is CCDC28B.

Additional gene information for CCDC28A Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC28A Gene

Genomics for CCDC28A Gene

GeneHancer (GH) Regulatory Elements for CCDC28A Gene

Promoters and enhancers for CCDC28A 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
GH06J138772 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 656.2 +0.2 199 2.1 PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 E2F8 ZNF143 CCDC28A GVQW2 ECT2L
GH06J138591 Enhancer 1.2 Ensembl ENCODE 12.3 -179.3 -179319 4.8 FOXA2 ARID4B DMAP1 IRF4 YY1 SLC30A9 FOS SP5 JUNB ZNF592 FLJ46906 NHSL1 CCDC28A PERP LOC100129577 ENSG00000274594
GH06J138590 Enhancer 0.8 ENCODE 12.3 -182.4 -182440 0.2 FOXA2 RB1 ARID4B RAD21 SLC30A9 ZNF143 IKZF2 THAP11 MIXL1 ZNF654 FLJ46906 CCDC28A NHSL1 PERP LOC100129577 ENSG00000274594
GH06J139027 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 1.9 +255.6 255646 3.7 HDGF FOXA2 SMAD1 ARNT SIN3A ZNF2 YY1 KLF13 SP3 JUNB ABRACL GC06M139027 HECA CCDC28A GC06P139052
GH06J138802 Enhancer 0.3 ENCODE 5 +30.9 30895 4.3 HLF ECT2L REPS1 CCDC28A CCRL1P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC28A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC28A gene promoter:
  • AREB6
  • Tal-1beta
  • SREBP-1c
  • SREBP-1b
  • SREBP-1a
  • Ik-3
  • ITF-2
  • Bach1
  • Sox9
  • NRSF form 1

Genomic Locations for CCDC28A Gene

Genomic Locations for CCDC28A Gene
34,819 bases
Plus strand
19,800 bases
Plus strand

Genomic View for CCDC28A Gene

Genes around CCDC28A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC28A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC28A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC28A Gene

Proteins for CCDC28A Gene

  • Protein details for CCDC28A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil domain-containing protein 28A
    Protein Accession:
    Secondary Accessions:
    • E1P591
    • Q32NC7
    • Q66K67
    • Q96E23
    • Q9Y430

    Protein attributes for CCDC28A Gene

    274 amino acids
    Molecular mass:
    30367 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCDC28A Gene

Post-translational modifications for CCDC28A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC28A Gene

No data available for DME Specific Peptides for CCDC28A Gene

Domains & Families for CCDC28A Gene

Gene Families for CCDC28A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CCDC28A Gene


Suggested Antigen Peptide Sequences for CCDC28A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC28A: view

No data available for UniProtKB/Swiss-Prot for CCDC28A Gene

Function for CCDC28A Gene

Gene Ontology (GO) - Molecular Function for CCDC28A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CCDC28A: view
genes like me logo Genes that share phenotypes with CCDC28A: view

Animal Model Products

miRNA for CCDC28A Gene

miRTarBase miRNAs that target CCDC28A

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC28A Gene

Localization for CCDC28A 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 CCDC28A gene
Compartment Confidence
nucleus 3
mitochondrion 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC28A Gene

Pathways & Interactions for CCDC28A Gene

SuperPathways for CCDC28A Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC28A Gene


No data available for Pathways by source and SIGNOR curated interactions for CCDC28A Gene

Drugs & Compounds for CCDC28A Gene

No Compound Related Data Available

Transcripts for CCDC28A Gene

mRNA/cDNA for CCDC28A Gene

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(205) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCDC28A Gene

Coiled-coil domain containing 28A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC28A Gene

No ASD Table

Relevant External Links for CCDC28A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CCDC28A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC28A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC28A Gene

This gene is overexpressed in Heart (20.2), Placenta (16.7), Testis (12.8), Pancreas (7.4), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC28A Gene

Protein tissue co-expression partners for CCDC28A Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC28A Gene:


SOURCE GeneReport for Unigene cluster for CCDC28A Gene:

genes like me logo Genes that share expression patterns with CCDC28A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC28A Gene

Orthologs for CCDC28A Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC28A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CCDC28A 34 33
  • 99.27 (n)
(Ornithorhynchus anatinus)
Mammalia CCDC28A 34
  • 90 (a)
(Canis familiaris)
Mammalia CCDC28A 34 33
  • 88.08 (n)
(Bos Taurus)
Mammalia CCDC28A 34 33
  • 86.33 (n)
(Mus musculus)
Mammalia Ccdc28a 16 34 33
  • 86.05 (n)
(Rattus norvegicus)
Mammalia Ccdc28a 33
  • 85.33 (n)
(Monodelphis domestica)
Mammalia CCDC28A 34
  • 57 (a)
(Gallus gallus)
Aves CCDC28A 34 33
  • 77.47 (n)
(Anolis carolinensis)
Reptilia CCDC28A 34
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc28a 33
  • 72.83 (n)
(Danio rerio)
Actinopterygii ccdc28a 34 33
  • 60.89 (n)
wufe24b05 33
fruit fly
(Drosophila melanogaster)
Insecta CG10874 34
  • 18 (a)
Species where no ortholog for CCDC28A 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)
  • 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 CCDC28A Gene

Gene Tree for CCDC28A (if available)
Gene Tree for CCDC28A (if available)
Evolutionary constrained regions (ECRs) for CCDC28A: view image

Paralogs for CCDC28A Gene

Paralogs for CCDC28A Gene

(1) SIMAP similar genes for CCDC28A Gene using alignment to 5 proteins:

  • Q7Z6N9_HUMAN
genes like me logo Genes that share paralogs with CCDC28A: view

Variants for CCDC28A Gene

Sequence variations from dbSNP and Humsavar for CCDC28A Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000283009 -- 138,777,739(+) A/C intron_variant
rs1000366099 -- 138,790,131(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000374264 -- 138,791,428(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000833812 -- 138,790,259(+) T/C genic_downstream_transcript_variant, intron_variant
rs1001061347 -- 138,771,881(+) GGG/GG upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC28A Gene

Variant ID Type Subtype PubMed ID
esv7585 OTHER inversion 19470904
nsv1114874 CNV deletion 24896259
nsv5500 CNV insertion 18451855

Variation tolerance for CCDC28A Gene

Residual Variation Intolerance Score: 61.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.89; 74.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC28A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC28A Gene

Disorders for CCDC28A Gene


  • Note=A chromosomal aberration involving CCDC28A has been identified in acute leukemias. Translocation t(6;11)(q24.1;p15.5) with NUP98. The chimeric transcript is an in-frame fusion of NUP98 exon 13 to CCDC28A exon 2. Ectopic expression of NUP98-CCDC28A in mouse promotes the proliferative capacity and self-renewal potential of hematopoietic progenitors and rapidly induced fatal myeloproliferative neoplasms and defects in the differentiation of the erythro-megakaryocytic lineage. {ECO:0000269 PubMed:16028218}.

Additional Disease Information for CCDC28A

No disorders were found for CCDC28A Gene.

No data available for MalaCards and Genatlas for CCDC28A Gene

Publications for CCDC28A Gene

  1. Functional analysis of the NUP98-CCDC28A fusion protein. (PMID: 22058212) Petit A … Penard-Lacronique V (Haematologica 2012) 3 4 58
  2. Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-C6orf80 fusion in a case of acute megakaryoblastic leukemia. (PMID: 16028218) Tosi S … Harbott J (Genes, chromosomes & cancer 2005) 3 4 58
  3. 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 58
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 58

Products for CCDC28A Gene

Sources for CCDC28A Gene

Loading form....