Aliases for CCDC148 Gene
External Ids for CCDC148 Gene
- HGNC: 25191
- Entrez Gene: 130940
- Ensembl: ENSG00000153237
- UniProtKB: Q8NFR7
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.
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
Regulatory Elements for CCDC148 Gene
Enhancers for CCDC148 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 |
|---|---|---|---|---|---|---|---|---|
| GH02G158213 | 1.2 | Ensembl ENCODE | 11.6 | +242.3 | 242314 | 1.4 | PKNOX1 FOXA2 ATF1 ARNT ZNF133 ARID4B FEZF1 FOS JUNB PPARG | RN7SL393P CCDC148 PKP4 CCDC148-AS1 HNRNPDLP2 |
| GH02G158185 | 0.9 | ENCODE | 11.3 | +271.7 | 271651 | 0.3 | ELF3 PKNOX1 FOXA2 NFIB MLX ARID4B SIN3A RAD21 ZNF48 ZSCAN9 | RN7SL393P CCDC148 PKP4 CCDC148-AS1 HNRNPDLP2 |
| GH02G158505 | 0.9 | ENCODE | 11.3 | -49.1 | -49055 | 1.3 | HDAC1 HDGF PKNOX1 CBX3 ARNT ZBTB40 RAD21 CHAMP1 TCF12 FOS | PKP4 CCDC148 RN7SL393P PKP4-AS1 ENSG00000228586 RPL7AP22 |
| GH02G158510 | 0.6 | Ensembl | 15.5 | -53.6 | -53577 | 0.8 | JUND ZNF316 MAFG FOS ZNF24 NFE2 EMSY SPI1 FOXA1 | PKP4 CCDC148 RN7SL393P PKP4-AS1 OR7E28P RPL7AP22 |
| GH02G158586 | 0.8 | ENCODE | 11.5 | -129.7 | -129692 | 0.6 | FOXA2 FOS RCOR1 THAP11 CEBPB ELF1 PPARG ZNF843 ZNF217 MBD2 | PKP4 CCDC148 RN7SL393P ENSG00000231675 GC02M158585 LOC105373715 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CCDC148 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CCDC148 gene promoter:
Regulatory Element Products
Genomic Location for CCDC148 Gene
- Chromosome:
- 2
- Start:
- 158,171,081 bp from pter
- End:
- 158,456,824 bp from pter
- Size:
- 285,744 bases
- Orientation:
- Minus strand
Genomic View for CCDC148 Gene
Genes around CCDC148 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q24.1 by Ensembl
- 2q24.1 by Entrez Gene
- 2q24.1 by HGNC
CCDC148 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for CCDC148 Gene
Post-translational modifications for CCDC148 Gene
Other Protein References for CCDC148 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CCDC148
- Novus Biologicals Antibodies for CCDC148
- Invitrogen Antibodies for CCDC148
- Search GeneTex for Antibodies for CCDC148
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CCDC148
- Origene Custom Protein Services for CCDC148
- Search GeneTex for Proteins for CCDC148
Assay Products
No data available for DME Specific Peptides for CCDC148 Gene
Domains & Families for CCDC148 Gene
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
No data available for Gene Families and UniProtKB/Swiss-Prot for CCDC148 Gene
Function for CCDC148 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for CCDC148 Gene
- GenomeRNAi human phenotypes for CCDC148:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CCDC148
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CCDC148 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC148 gene
- Search ViGene Biosciences for CCDC148
CRISPR Products
-
OriGene CRISPR knockouts for CCDC148
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC148
- GenScript: Design CRISPR guide RNA sequences for CCDC148
miRNA for CCDC148 Gene
- miRTarBase miRNAs that target CCDC148
miRNA Products
- Search ViGene Biosciences for CCDC148
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CCDC148
- Browse OriGene Inhibitory RNA Products For CCDC148
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC148 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CCDC148
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC148
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CCDC148
-
ViGene Biosciences adenoviral particle packaged cDNA for CCDC148 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CCDC148 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC148 gene
Flow Cytometry 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
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 2 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC148 Gene
Pathways & Interactions for CCDC148 Gene
No Data Available
Interacting Proteins for CCDC148 Gene
Selected Interacting proteins:
ENSP00000283233
Q8NFR7-CC148_HUMAN
for CCDC148 Gene via
STRING
IID
UniProtKB
No data available for Pathways by source and SIGNOR curated interactions for CCDC148 Gene
Transcripts for CCDC148 Gene
mRNA/cDNA for CCDC148 Gene
- (13) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (24) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CCDC148 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CCDC148
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC148
- GenScript: Design CRISPR guide RNA sequences for CCDC148
miRNA Products
- Search ViGene Biosciences for CCDC148
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CCDC148
- Browse OriGene Inhibitory RNA Products For CCDC148
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC148 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CCDC148
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC148
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression 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).
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
NURSA nuclear receptor signaling pathways regulating expression of CCDC148 Gene:
CCDC148SOURCE GeneReport for Unigene cluster for CCDC148 Gene:
Hs.668597Evidence on tissue expression from TISSUES for CCDC148 Gene
- Nervous system(3.4)
- Lung(2.4)
Primer Products
-
OriGene qPCR primer pairs for CCDC148
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CCDC148 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CCDC148 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CCDC148 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Ccdc148 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ccdc148 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CCDC148 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CCDC148 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CCDC148 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CCDC148 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ccdc148 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for CCDC148 Gene
No data available for Paralogs for CCDC148 Gene
Variants for CCDC148 Gene
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000002135 | -- | 158,253,124(+) | ATTTT(C/T)ATTTA | intron-variant | |
| rs1000014993 | -- | 158,336,598(+) | GAAAC(A/G)GATCA | intron-variant | |
| rs1000024235 | -- | 158,316,520(+) | TTTCC(A/G)GTTAC | intron-variant | |
| rs1000033278 | -- | 158,253,317(+) | ACACA(C/T)AATCT | intron-variant | |
| rs1000035818 | -- | 158,263,823(+) | AATCC(C/T)TTCCT | intron-variant |
| 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 |
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)
Relevant External Links for CCDC148 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC148 Gene
Disorders for CCDC148 Gene
Relevant External Links for CCDC148
No disorders were found for CCDC148 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC148 Gene
Publications for CCDC148 Gene
- 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. … Monaco A.P. (Mol. Psychiatry 2010) 3 46 64
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
- A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
Products for CCDC148 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for CCDC148
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CCDC148
- Origene Custom Protein Services for CCDC148
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CCDC148
- Browse OriGene Inhibitory RNA Products For CCDC148
- OriGene qPCR primer pairs for CCDC148
- OriGene CRISPR knockouts for CCDC148
- OriGene ORF clones in human for CCDC148
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping cDNA ORF clone for CCDC148 in any vector
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- GenScript: Design CRISPR guide RNA sequences for CCDC148
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- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for CCDC148
- Novus Biologicals proteins and lysates for CCDC148
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- ViGene Biosciences adenoviral particle packaged cDNA for CCDC148 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CCDC148 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CCDC148 gene
- Search ViGene Biosciences for CCDC148
- Horizon Cell Lines for CCDC148
- Cyagen custom Knockout/knockin (KOKI) mouse models for CCDC148
- VectorBuilder custom plasmid, inducible vectors for CCDC148
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC148
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CCDC148 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer