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 ne... See more...

Aliases for CCDC28A Gene

Aliases for CCDC28A Gene

  • Coiled-Coil Domain Containing 28A 2 3 5
  • CCRL1AP 2 3 4
  • Coiled-Coil Domain-Containing Protein 28A 3 4
  • C6orf80 3 4
  • Chemokine C-C Motif Receptor-Like 1 Adjacent 3
  • Chromosome 6 Open Reading Frame 80 2
  • DKFZp586D0623 2
  • CCDC28A 5

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. Diseases associated with CCDC28A include Childhood Acute Myeloid Leukemia. An important paralog of this gene is CCDC28B.

Additional gene information for CCDC28A Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC28A Gene

Genomics for CCDC28A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC28A 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
GH06J138772 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 606.1 +0.1 92 2.4 BRCA1 SP1 CREB1 ATF7 PRDM10 REST ZNF629 RFX1 SIX5 POLR2A CCDC28A CCDC28A-AS1 ECT2L
GH06J138591 Enhancer 1 ENCODE 12.3 -179.3 -179319 4.8 SP1 GATAD2A ZNF629 TFE3 NFKBIZ RCOR2 POLR2A BACH1 LARP7 PRDM1 ENSG00000225177 NHSL1 CCDC28A PERP RF00017-5809 RF00017-5808 lnc-NHSL1-4 HEBP2
GH06J138590 Enhancer 0.7 ENCODE 12.3 -182.4 -182440 0.2 GATAD2A CTCF KDM1A RCOR2 REST RAD21 TRIM22 SMC3 CUX1 IKZF1 ENSG00000225177 CCDC28A NHSL1 PERP RF00017-5809 RF00017-5808 lnc-NHSL1-4 HEBP2
GH06J138768 Enhancer 0.7 Ensembl ENCODE 6.1 -4.3 -4308 1.6 PRDM10 IKZF2 YY1 EED RUNX3 NR2F2 JUNB IRF4 BATF SPI1 ECT2L CCDC28A CCDC28A-AS1 lnc-CCDC28A-2 NHSL1
GH06J139027 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 1.9 +255.7 255692 4 RNF2 PRDM10 ZNF629 ZNF692 POLR2A BACH1 TARDBP LARP7 PRDM1 RELA ABRACL lnc-ABRACL-1 lnc-REPS1-2 HECA CCDC28A RF00017-5813 MN297907-011
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC28A

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

Genomic Locations for CCDC28A Gene

Genomic Locations for CCDC28A Gene
chr6:138,773,509-138,793,319
(GRCh38/hg38)
Size:
19,811 bases
Orientation:
Plus strand
chr6:139,094,657-139,114,456
(GRCh37/hg19)
Size:
19,800 bases
Orientation:
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:
    Q8IWP9-CC28A_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 28A
    Protein Accession:
    Q8IWP9
    Secondary Accessions:
    • E1P591
    • Q32NC7
    • Q66K67
    • Q96E23
    • Q9Y430

    Protein attributes for CCDC28A Gene

    Size:
    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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC28A Gene

GenScript: Design optimal peptide antigens:
  • CCRL1AP (CC28A_HUMAN)
  • CCDC28A protein (Q7Z6N9_HUMAN)
genes like me logo Genes that share domains with CCDC28A: view

No data available for Graphical View of Domain Structure and 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 Models for CCDC28A Gene

MGI Knock Outs for CCDC28A:
  • Ccdc28a Ccdc28a<tm3b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for CCDC28A Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC28A

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

Localization for CCDC28A 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 CCDC28A gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 0

Subcellular locations from the

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

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

Pathways & Interactions for CCDC28A Gene

PathCards logo

SuperPathways for CCDC28A Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC28A Gene

None

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC28A

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

No ASD Table

Relevant External Links for CCDC28A Gene

GeneLoc Exon Structure for
CCDC28A

Expression for CCDC28A Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC28A

SOURCE GeneReport for Unigene cluster for CCDC28A Gene:

Hs.412019
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
Chimpanzee
(Pan troglodytes)
Mammalia CCDC28A 30 31
  • 99.27 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC28A 31
  • 90 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC28A 30 31
  • 88.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC28A 30 31
  • 86.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ccdc28a 30 17 31
  • 86.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc28a 30
  • 85.33 (n)
Oppossum
(Monodelphis domestica)
Mammalia CCDC28A 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC28A 30 31
  • 77.47 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC28A 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc28a 30
  • 72.83 (n)
Zebrafish
(Danio rerio)
Actinopterygii ccdc28a 30 31
  • 60.89 (n)
OneToOne
wufe24b05 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG10874 31
  • 18 (a)
OneToMany
Species where no ortholog for CCDC28A 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)
  • 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 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

ENSEMBL:
Gene Tree for CCDC28A (if available)
TreeFam:
Gene Tree for CCDC28A (if available)
Aminode:
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:

  • CC28A_HUMAN
  • Q7Z6N9_HUMAN
  • R9RSM4_HUMAN
  • R9RUD5_HUMAN
  • R9RUZ6_HUMAN
genes like me logo Genes that share paralogs with CCDC28A: view

Variants for CCDC28A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC28A Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs2273510 - p.Pro82Leu
rs34538642 - p.Ser42Tyr

Additional dbSNP identifiers (rs#s) for CCDC28A Gene

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
CCDC28A

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

Disorders for CCDC28A Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC28A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
childhood acute myeloid leukemia
  • childhood acute myeloid leukaemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CC28A_HUMAN
  • 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}.
genes like me logo Genes that share disorders with CCDC28A: view

No data available for 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
  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
  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
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for CCDC28A Gene

Sources for CCDC28A Gene