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Aliases for CCDC144A Gene

Aliases for CCDC144A Gene

  • Coiled-Coil Domain Containing 144A 2 3 5
  • KIAA0565 4

External Ids for CCDC144A Gene

Previous GeneCards Identifiers for CCDC144A Gene

  • GC17P016539
  • GC17P016460
  • GC17P016592
  • GC17P016691

Summaries for CCDC144A Gene

GeneCards Summary for CCDC144A Gene

CCDC144A (Coiled-Coil Domain Containing 144A) is a Protein Coding gene. An important paralog of this gene is ENSG00000266302.

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 CCDC144A Gene

Genomics for CCDC144A Gene

Regulatory Elements for CCDC144A Gene

Enhancers for CCDC144A 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
GH17G016535 1.7 FANTOM5 Ensembl ENCODE 2.4 -153.3 -153336 2.4 CREB3L1 MLX AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC LRRC75A ENSG00000265511 LOC644422 ZNF287 KRT16P6 CCDC144A ZNF624 LOC105371554 GC17M016532
GH17G016893 0.5 FANTOM5 3.9 +204.0 203979 0.3 L3MBTL2 MGA KRT16P2 CCDC144A COPS3 ENSG00000265853 TBC1D27
GH17G016686 0.2 ENCODE 0.7 -2.3 -2323 0.7 RNASEH1P2 CCDC144A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC144A on UCSC Golden Path with GeneCards custom track

Promoters for CCDC144A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000091797 863 1200 ELF3 FOXA2 RB1 MLX ARID4B ZSCAN9 RAD21 YY1 KAT2B RARA

Genomic Location for CCDC144A Gene

Chromosome:
17
Start:
16,689,537 bp from pter
End:
16,777,881 bp from pter
Size:
88,345 bases
Orientation:
Plus strand

Genomic View for CCDC144A Gene

Genes around CCDC144A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC144A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC144A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC144A Gene

Proteins for CCDC144A Gene

  • Protein details for CCDC144A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A2RUR9-C144A_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 144A
    Protein Accession:
    A2RUR9
    Secondary Accessions:
    • O60311
    • Q6ZU57

    Protein attributes for CCDC144A Gene

    Size:
    1427 amino acids
    Molecular mass:
    165125 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA25491.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA25491.2; Type=Frameshift; Positions=1322; Evidence={ECO:0000305}; Sequence=BAC86369.1; Type=Frameshift; Positions=953; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC144A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC144A Gene

Post-translational modifications for CCDC144A Gene

  • Ubiquitination at Lys955
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CCDC144A Gene

Domains & Families for CCDC144A Gene

Protein Domains for CCDC144A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC144A Gene

Graphical View of Domain Structure for InterPro Entry

A2RUR9

UniProtKB/Swiss-Prot:

C144A_HUMAN :
  • Belongs to the CCDC144 family.
Family:
  • Belongs to the CCDC144 family.
genes like me logo Genes that share domains with CCDC144A: view

No data available for Gene Families for CCDC144A Gene

Function for CCDC144A Gene

Phenotypes for CCDC144A Gene

GenomeRNAi human phenotypes for CCDC144A:
genes like me logo Genes that share phenotypes with CCDC144A: view

Animal Model Products

CRISPR Products

miRNA for CCDC144A Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 CCDC144A Gene

Localization for CCDC144A 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 CCDC144A gene
Compartment Confidence
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC144A Gene

Pathways & Interactions for CCDC144A Gene

SuperPathways for CCDC144A Gene

No Data Available

Interacting Proteins for CCDC144A Gene

Gene Ontology (GO) - Biological Process for CCDC144A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC144A Gene

Transcripts for CCDC144A Gene

mRNA/cDNA for CCDC144A Gene

(4) REFSEQ mRNAs :
(1) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC144A Gene

No ASD Table

Relevant External Links for CCDC144A Gene

GeneLoc Exon Structure for
CCDC144A
ECgene alternative splicing isoforms for
CCDC144A

Expression for CCDC144A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC144A Gene

mRNA differential expression in normal tissues according to GTEx for CCDC144A Gene

This gene is overexpressed in Testis (x20.3), Brain - Cerebellum (x8.2), and Brain - Cerebellar Hemisphere (x4.1).

Protein differential expression in normal tissues from HIPED for CCDC144A Gene

This gene is overexpressed in Heart (46.7), Peripheral blood mononuclear cells (16.2), and Bone marrow mesenchymal stem cell (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC144A Gene



Protein tissue co-expression partners for CCDC144A Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC144A Gene:

CCDC144A
genes like me logo Genes that share expression patterns with CCDC144A: 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 CCDC144A Gene

Orthologs for CCDC144A Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC144A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC144A 34
  • 98.86 (n)
-- 35
  • 14 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 41 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Ccdc144b 35
  • 40 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 32 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 24 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 23 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 19 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 33 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ANKRD7 35
  • 15 (a)
OneToMany
Species where no ortholog for CCDC144A 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC144A Gene

ENSEMBL:
Gene Tree for CCDC144A (if available)
TreeFam:
Gene Tree for CCDC144A (if available)

Paralogs for CCDC144A Gene

genes like me logo Genes that share paralogs with CCDC144A: view

Variants for CCDC144A Gene

Sequence variations from dbSNP and Humsavar for CCDC144A Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000010888 -- 16,752,353(+) CCACA(A/G)TGCCA intron-variant
rs1000041112 -- 16,752,576(+) CTGGT(C/G)TCATG intron-variant
rs1000147940 -- 16,693,396(+) ACTGC(A/G)GGCTC intron-variant
rs1000201190 -- 16,693,567(+) GCCTC(A/G)GCCTC intron-variant
rs1000212249 -- 16,733,488(+) AACAG(C/T)GCGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC144A Gene

Variant ID Type Subtype PubMed ID
dgv5477n54 CNV loss 21841781
esv2635467 CNV loss 19546169
esv2758676 CNV gain+loss 17122850
esv3640113 CNV gain 21293372
esv3640115 CNV gain 21293372
nsv1063764 CNV loss 25217958
nsv111702 CNV insertion 16902084
nsv1128756 CNV duplication 24896259
nsv1141300 CNV duplication 24896259
nsv1160457 CNV duplication 26073780
nsv442737 CNV gain 18776908
nsv833378 CNV gain 17160897
nsv9497 CNV loss 18304495
nsv953837 CNV duplication 24416366
nsv960063 CNV duplication 23825009
nsv962269 CNV duplication 23825009
nsv978373 CNV duplication 23825009
nsv978473 CNV duplication 23825009

Variation tolerance for CCDC144A Gene

Gene Damage Index Score: 5.68; 72.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC144A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC144A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC144A Gene

Disorders for CCDC144A Gene

Relevant External Links for CCDC144A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC144A

No disorders were found for CCDC144A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC144A Gene

Publications for CCDC144A Gene

  1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 64
  2. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. (PMID: 11997339) Park S.S. … Lupski J.R. (Genome Res. 2002) 2 3 64
  3. Yeast two-hybrid screening identified WDR77 as a novel interacting partner of TSC22D2. (PMID: 27337956) Li Q. … Xiong W. (Tumour Biol. 2016) 3 64
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4 64

Products for CCDC144A Gene

Sources for CCDC144A Gene

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