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

Aliases for CCDC148 Gene

Aliases for CCDC148 Gene

  • Coiled-Coil Domain Containing 148 2 3 5

External Ids for CCDC148 Gene

Previous GeneCards Identifiers for CCDC148 Gene

  • GC02M158737
  • GC02M159027
  • GC02M150916

Summaries for CCDC148 Gene

GeneCards Summary for CCDC148 Gene

CCDC148 (Coiled-Coil Domain Containing 148) is a Protein Coding gene.

Additional gene information for CCDC148 Gene

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 CCDC148 Gene

Genomics for CCDC148 Gene

GeneHancer (GH) Regulatory Elements for CCDC148 Gene

Promoters and enhancers for CCDC148 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
GH02I158456 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -1.2 -1212 3.6 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 PKP4 CCDC148 OR7E28P ENSG00000228586 RPL7AP22
GH02I158213 Enhancer 1.1 Ensembl ENCODE 11.6 +242.3 242313 1.4 ATF1 PKNOX1 FOXA2 ARNT ZNF133 ARID4B FEZF1 FOS ATF7 PPARG RN7SL393P CCDC148 PKP4 CCDC148-AS1 GC02P158160 HNRNPDLP2
GH02I158185 Enhancer 0.9 ENCODE 11.3 +271.7 271650 0.2 ELF3 PKNOX1 FOXA2 NFIB MLX ARID4B NEUROD1 SIN3A RAD21 ZNF48 RN7SL393P PKP4 CCDC148 CCDC148-AS1 GC02P158160 HNRNPDLP2
GH02I158505 Enhancer 0.9 ENCODE 11.3 -49.1 -49054 1.3 HDAC1 HDGF PKNOX1 ARNT ZBTB40 CHAMP1 TCF12 ARID2 PHF21A ZBTB2 CCDC148 PKP4 RN7SL393P PKP4-AS1 ENSG00000228586 RPL7AP22
GH02I158586 Enhancer 0.8 ENCODE 11.5 -129.7 -129691 0.6 FOXA2 FOS RCOR1 THAP11 CEBPB PPARG ZNF217 SP1 NFIL3 KLF16 CCDC148 PKP4 RN7SL393P ENSG00000231675 LOC105373715 GC02M158585
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC148 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC148 gene promoter:

Genomic Locations for CCDC148 Gene

Genomic Locations for CCDC148 Gene
chr2:158,171,081-158,456,824
(GRCh38/hg38)
Size:
285,744 bases
Orientation:
Minus strand
chr2:159,027,593-159,313,265
(GRCh37/hg19)

Genomic View for CCDC148 Gene

Genes around CCDC148 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC148 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC148 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC148 Gene

Proteins for CCDC148 Gene

  • Protein details for CCDC148 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFR7-CC148_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 148
    Protein Accession:
    Q8NFR7
    Secondary Accessions:
    • F5H839
    • Q3B7I3
    • Q3B7I4
    • Q3KR41
    • Q4ZG12
    • Q4ZG23
    • Q53TM6
    • Q96BN5
    • Q96LM2

    Protein attributes for CCDC148 Gene

    Size:
    591 amino acids
    Molecular mass:
    71076 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI07598.1; Type=Frameshift; Positions=383; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC148 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC148 Gene

Post-translational modifications for CCDC148 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC148 Gene

Domains & Families for CCDC148 Gene

Gene Families for CCDC148 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC148 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CCDC148 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC148: view

No data available for UniProtKB/Swiss-Prot for CCDC148 Gene

Function for CCDC148 Gene

Phenotypes From GWAS Catalog for CCDC148 Gene

Gene Ontology (GO) - Molecular Function for CCDC148 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19060904
genes like me logo Genes that share ontologies with CCDC148: view
genes like me logo Genes that share phenotypes with CCDC148: view

Animal Model Products

miRNA for CCDC148 Gene

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC148 Gene

Localization for CCDC148 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 CCDC148 gene
Compartment Confidence
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC148 Gene

Pathways & Interactions for CCDC148 Gene

SuperPathways for CCDC148 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC148 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC148 Gene

Drugs & Compounds for CCDC148 Gene

No Compound Related Data Available

Transcripts for CCDC148 Gene

Unigene Clusters for CCDC148 Gene

Coiled-coil domain containing 148:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC148 Gene

No ASD Table

Relevant External Links for CCDC148 Gene

GeneLoc Exon Structure for
CCDC148
ECgene alternative splicing isoforms for
CCDC148

Expression for CCDC148 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC148 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC148 Gene

This gene is overexpressed in Kidney - Cortex (x4.4) and Testis (x4.2).

Protein differential expression in normal tissues from HIPED for CCDC148 Gene

This gene is overexpressed in Skin (50.1), Testis (12.7), and Salivary gland (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC148 Gene



Protein tissue co-expression partners for CCDC148 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC148 Gene:

CCDC148

SOURCE GeneReport for Unigene cluster for CCDC148 Gene:

Hs.668597

Evidence on tissue expression from TISSUES for CCDC148 Gene

  • Nervous system(3.4)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with CCDC148: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC148 Gene

Orthologs for CCDC148 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC148 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC148 33 34
  • 98.86 (n)
cow
(Bos Taurus)
Mammalia CCDC148 33 34
  • 89.57 (n)
dog
(Canis familiaris)
Mammalia CCDC148 33 34
  • 88.7 (n)
mouse
(Mus musculus)
Mammalia Ccdc148 33 16 34
  • 79.91 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc148 33
  • 78.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC148 34
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC148 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC148 33 34
  • 64.32 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC148 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc148 33
  • 60.34 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToOne
Species where no ortholog for CCDC148 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • zebrafish (Danio rerio)

Evolution for CCDC148 Gene

ENSEMBL:
Gene Tree for CCDC148 (if available)
TreeFam:
Gene Tree for CCDC148 (if available)

Paralogs for CCDC148 Gene

No data available for Paralogs for CCDC148 Gene

Variants for CCDC148 Gene

Sequence variations from dbSNP and Humsavar for CCDC148 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000002135 -- 158,253,124(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000014993 -- 158,336,598(-) A/G genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000024235 -- 158,316,520(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000033278 -- 158,253,317(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000035818 -- 158,263,823(-) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC148 Gene

Variant ID Type Subtype PubMed ID
esv24817 CNV loss 19812545
esv2659913 CNV deletion 23128226
esv2721019 CNV deletion 23290073
esv2721020 CNV deletion 23290073
esv3439506 CNV insertion 20981092
esv3593072 CNV loss 21293372
esv3593073 CNV gain 21293372
esv3593074 CNV loss 21293372
esv3593075 CNV loss 21293372
esv3593076 CNV loss 21293372
nsv1005075 CNV loss 25217958
nsv1010622 CNV loss 25217958
nsv1142313 CNV deletion 24896259
nsv2992 CNV insertion 18451855
nsv459885 CNV loss 19166990
nsv478100 CNV novel sequence insertion 20440878
nsv508876 CNV insertion 20534489
nsv583440 CNV loss 21841781
nsv583441 CNV loss 21841781
nsv583442 CNV loss 21841781

Variation tolerance for CCDC148 Gene

Residual Variation Intolerance Score: 93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.03; 60.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC148 Gene

Human Gene Mutation Database (HGMD)
CCDC148
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC148

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC148 Gene

Disorders for CCDC148 Gene

Additional Disease Information for CCDC148

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CCDC148 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC148 Gene

Publications for CCDC148 Gene

  1. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PMID: 19401682) Maestrini E … IMGSAC (Molecular psychiatry 2010) 3 44 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for CCDC148 Gene

Sources for CCDC148 Gene

Content
Loading form....