Aliases for CCDC138 Gene

Aliases for CCDC138 Gene

  • Coiled-Coil Domain Containing 138 2 3 5
  • Coiled-Coil Domain-Containing Protein 138 3 4
  • FLJ32745 2
  • CCDC138 5

External Ids for CCDC138 Gene

Previous GeneCards Identifiers for CCDC138 Gene

  • GC02P108769
  • GC02P109403
  • GC02P103001

Summaries for CCDC138 Gene

GeneCards Summary for CCDC138 Gene

CCDC138 (Coiled-Coil Domain Containing 138) is a Protein Coding gene. Diseases associated with CCDC138 include Branchiootorenal Syndrome 1 and Fundus Dystrophy.

Additional gene information for CCDC138 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 CCDC138 Gene

Genomics for CCDC138 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC138 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
GH02J108785 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.2 168 2.6 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 RFX1 SOX13 ZNF692 POLR2A CCDC138 GCC2 RANBP2 LIMS1 piR-61532-146 LIMS3-LOC440895 EDAR
GH02J108922 Enhancer 0.8 Ensembl ENCODE dbSUPER 5.2 +136.0 135968 3.4 ZIC2 SCRT2 JUND HLF ZBTB6 GCC2 CCDC138 piR-61060 piR-31839 EDAR LIMS3-LOC440895
GH02J108916 Enhancer 0.6 Ensembl dbSUPER 5 +130.7 130668 1.2 SOX13 SPI1 TFAP4 SOX5 BHLHE40 GCC2 CCDC138 piR-61060 piR-31839 EDAR LIMS3-LOC440895
GH02J108890 Enhancer 0.3 FANTOM5 2.4 +103.4 103418 0.2 ZNF384 piR-58809 EDAR CCDC138 LIMS1 RPL39P16 LIMS3-LOC440895
GH02J108718 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 0.2 -66.0 -66032 4.6 BRCA1 SP1 CREB1 GATAD2A HNRNPL ZNF629 TFE3 SIX5 SOX13 IKZF1 RANBP2 GCC2 piR-33007-003 CCDC138 LIMS3-LOC440895
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC138 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC138

Top Transcription factor binding sites by QIAGEN in the CCDC138 gene promoter:
  • AREB6
  • C/EBPalpha
  • Evi-1
  • FOXL1
  • MRF-2
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • TBP

Genomic Locations for CCDC138 Gene

Genomic Locations for CCDC138 Gene
chr2:108,786,733-108,885,485
(GRCh38/hg38)
Size:
98,753 bases
Orientation:
Plus strand
chr2:109,403,213-109,501,933
(GRCh37/hg19)
Size:
98,721 bases
Orientation:
Plus strand

Genomic View for CCDC138 Gene

Genes around CCDC138 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC138 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC138 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC138 Gene

Proteins for CCDC138 Gene

  • Protein details for CCDC138 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96M89-CC138_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 138
    Protein Accession:
    Q96M89
    Secondary Accessions:
    • Q05DF1
    • Q4ZG07
    • Q53TE1
    • Q6ZUY5
    • Q86VL7

    Protein attributes for CCDC138 Gene

    Size:
    665 amino acids
    Molecular mass:
    76219 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CCDC138 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC138 Gene

Post-translational modifications for CCDC138 Gene

  • Glycosylation at Asn279
  • Ubiquitination at Lys19, Lys41, Lys157, Lys200, Lys230, Lys313, Lys399, and Lys463
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CC138_HUMAN (1123)

No data available for DME Specific Peptides for CCDC138 Gene

Domains & Families for CCDC138 Gene

Gene Families for CCDC138 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC138 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC138 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 138 (CC138_HUMAN)
genes like me logo Genes that share domains with CCDC138: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC138 Gene

Function for CCDC138 Gene

Phenotypes From GWAS Catalog for CCDC138 Gene

genes like me logo Genes that share phenotypes with CCDC138: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC138

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 CCDC138 Gene

Localization for CCDC138 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 CCDC138 gene
Compartment Confidence
cytosol 3
nucleus 2
cytoskeleton 1

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC138 Gene

Pathways & Interactions for CCDC138 Gene

PathCards logo

SuperPathways for CCDC138 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC138 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC138 Gene

Drugs & Compounds for CCDC138 Gene

No Compound Related Data Available

Transcripts for CCDC138 Gene

mRNA/cDNA for CCDC138 Gene

15 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 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 CCDC138

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC138 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d
SP1: -
SP2: -
SP3: - -
SP4: -
SP5: - -

Relevant External Links for CCDC138 Gene

GeneLoc Exon Structure for
CCDC138

Expression for CCDC138 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC138 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC138 Gene

This gene is overexpressed in Testis (x5.8).

Protein differential expression in normal tissues from HIPED for CCDC138 Gene

This gene is overexpressed in Lung (59.1) and Testis (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC138 Gene



Protein tissue co-expression partners for CCDC138 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC138

SOURCE GeneReport for Unigene cluster for CCDC138 Gene:

Hs.731709
genes like me logo Genes that share expression patterns with CCDC138: 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 CCDC138 Gene

Orthologs for CCDC138 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC138 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC138 30 31
  • 99.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC138 30 31
  • 88.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc138 30
  • 82.9 (n)
Mouse
(Mus musculus)
Mammalia Ccdc138 30 17 31
  • 81.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC138 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC138 31
  • 61 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CCDC138 31
  • 59 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC138 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc138 30
  • 64.07 (n)
Str.4317 30
Zebrafish
(Danio rerio)
Actinopterygii CCDC138 31
  • 42 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2655 31
  • 37 (a)
OneToOne
Species where no ortholog for CCDC138 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)
  • Chicken (Gallus gallus)
  • 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 Vase (Ciona intestinalis)
  • 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 CCDC138 Gene

ENSEMBL:
Gene Tree for CCDC138 (if available)
TreeFam:
Gene Tree for CCDC138 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC138: view image

Paralogs for CCDC138 Gene

No data available for Paralogs for CCDC138 Gene

Variants for CCDC138 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC138 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs35794776 - p.Asp99Tyr
rs6740879 - p.Arg115Lys

Additional dbSNP identifiers (rs#s) for CCDC138 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC138 Gene

Variant ID Type Subtype PubMed ID
nsv1149522 OTHER inversion 26484159
nsv1153528 CNV deletion 26484159
nsv2872 CNV insertion 18451855

Variation tolerance for CCDC138 Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.77; 86.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC138 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC138

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC138 Gene

Disorders for CCDC138 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCDC138 Gene - From: DISEASES

Disorder Aliases PubMed IDs
branchiootorenal syndrome 1
  • bor1
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CCDC138: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC138 Gene

Publications for CCDC138 Gene

  1. Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes. (PMID: 28596423) Drew K … Marcotte EM (Molecular systems biology 2017) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3
  5. A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway. (PMID: 30561431) Van Quickelberghe E … Gevaert K (Scientific data 2018) 3

Products for CCDC138 Gene

Sources for CCDC138 Gene