Aliases for CCDC144A Gene

Aliases for CCDC144A Gene

  • Coiled-Coil Domain Containing 144A 2 3 5
  • Coiled-Coil Domain-Containing Protein 144A 3 4
  • KIAA0565 2 4
  • CCDC144A 5
  • FLJ43983 2

External Ids for CCDC144A Gene

Previous GeneCards Identifiers for CCDC144A Gene

  • GC17P016539
  • GC17P016460
  • GC17P016592
  • GC17P016691
  • GC17P016703
  • GC17P016709

Summaries for CCDC144A Gene

GeneCards Summary for CCDC144A Gene

CCDC144A (Coiled-Coil Domain Containing 144A) is a Protein Coding gene. Diseases associated with CCDC144A include Smith-Magenis Syndrome. An important paralog of this gene is ENSG00000266302.

Additional gene information for CCDC144A Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC144A Gene

Genomics for CCDC144A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC144A 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
GH17J016689 Promoter 1.1 EPDnew Ensembl 250.3 +23.8 23830 1.6 ZNF217 REST CTCF TRIM22 SMARCA5 MLLT1 NRF1 ZBTB33 RLF CREB1 ENSG00000266302 RNU6-405P RF00026-419 piR-34106-001 piR-43834-001 CCDC144A KRT16P6 TNFRSF13B
GH17J016666 Promoter 0.9 EPDnew Ensembl 250.7 +0.8 829 1.6 EZH2 USF2 USF1 SIN3A NEK4P2 CCDC144A lnc-ZNF624-2 ZNF624 KRT16P2 piR-43107-115 HSALNG0114877 ENSG00000266302
GH17J016749 Promoter/Enhancer 0.8 EPDnew Ensembl 250.2 +84.1 84116 3.2 CTCF TRIM22 ZNF316 MAZ ZNF211 ZNF654 CCDC144A RAI1 KRT16P6 NEK4P2 KRT17P1 UPF3AP1 piR-56580-011 ENSG00000266302 TNFRSF13B
GH17J016734 Promoter 0.3 EPDnew 250.2 +68.4 68438 0.1 piR-35009-001 piR-38076-001 CCDC144A piR-47036-001 ENSG00000266302 TNFRSF13B
GH17J016775 Promoter 0.3 EPDnew 250.1 +109.0 108958 0.1 piR-38344-053 CCDC144A HSALNG0114884 ENSG00000266302 TNFRSF13B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC144A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC144A

Top Transcription factor binding sites by QIAGEN in the CCDC144A gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • SEF-1 (1)

Genomic Locations for CCDC144A Gene

Latest Assembly
chr17:16,666,571-16,787,421
(GRCh38/hg38)
Size:
120,851 bases
Orientation:
Plus strand

Previous Assembly
chr17:16,593,555-16,681,195
(GRCh37/hg19 by Entrez Gene)
Size:
87,641 bases
Orientation:
Plus strand

chr17:16,592,851-16,707,767
(GRCh37/hg19 by Ensembl)
Size:
114,917 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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA25491.2; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC86369.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC144A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC144A Gene

Post-translational modifications for CCDC144A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC144A Gene

Domains & Families for CCDC144A Gene

Gene Families for CCDC144A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CCDC144A Gene

Suggested Antigen Peptide Sequences for CCDC144A Gene

GenScript: Design optimal peptide antigens:
  • CCDC144A protein (B7ZM27_HUMAN)
  • Coiled-coil domain-containing protein 144A (C144A_HUMAN)

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

Function for CCDC144A Gene

Phenotypes From GWAS Catalog for CCDC144A Gene

miRNA for CCDC144A Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC144A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , 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
mitochondrion 1
peroxisome 1
cytosol 1
plasma membrane 0
extracellular 0

Subcellular locations from the

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

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

Pathways & Interactions for CCDC144A Gene

PathCards logo

SuperPathways for CCDC144A Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC144A Gene

None

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

Drugs & Compounds for CCDC144A Gene

No Compound Related Data Available

Transcripts for CCDC144A Gene

mRNA/cDNA for CCDC144A Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC144A

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

No ASD Table

Relevant External Links for CCDC144A Gene

GeneLoc Exon Structure for
CCDC144A

Expression for CCDC144A Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC144A

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

Primer products for research

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 30
  • 98.86 (n)
-- 31
  • 14 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 41 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Ccdc144b 31
  • 40 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 32 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 24 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 23 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 19 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 33 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii ANKRD7 31
  • 15 (a)
OneToMany
Species where no ortholog for CCDC144A 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)
  • 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 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC144A: view image

Paralogs for CCDC144A Gene

Paralogs for CCDC144A Gene

(11) SIMAP similar genes for CCDC144A Gene using alignment to 6 proteins:

  • C144A_HUMAN
  • A6NG92_HUMAN
  • A6NJB5_HUMAN
  • B7ZM27_HUMAN
  • C9JAY6_HUMAN
  • C9JT67_HUMAN
genes like me logo Genes that share paralogs with CCDC144A: view

Variants for CCDC144A Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCDC144A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CCDC144A Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC144A Gene

Disorders for CCDC144A Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC144A Gene - From: COP and GCD

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • sms
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC144A

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

No data available for 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  2. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. (PMID: 11997339) Park SS … Lupski JR (Genome research 2002) 2 3
  3. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3
  4. Yeast two-hybrid screening identified WDR77 as a novel interacting partner of TSC22D2. (PMID: 27337956) Li Q … Xiong W (Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2016) 3
  5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4

Products for CCDC144A Gene

Sources for CCDC144A Gene