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Aliases for CBWD2 Gene

Aliases for CBWD2 Gene

  • COBW Domain Containing 2 2 3 5
  • Cobalamin Synthase W Domain-Containing Protein 2 3 4
  • Cobalamin Synthetase W Domain-Containing Protein 2 3
  • COBW Domain-Containing Protein 2 3

External Ids for CBWD2 Gene

Previous GeneCards Identifiers for CBWD2 Gene

  • GC00U991146
  • GC02U900009
  • GC02P114102
  • GC02P114290
  • GC02P113912
  • GC02P114188
  • GC02P114196
  • GC02P113438
  • GC02P113575

Summaries for CBWD2 Gene

GeneCards Summary for CBWD2 Gene

CBWD2 (COBW Domain Containing 2) is a Protein Coding gene. An important paralog of this gene is CBWD1.

Additional gene information for CBWD2 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 CBWD2 Gene

Genomics for CBWD2 Gene

GeneHancer (GH) Regulatory Elements for CBWD2 Gene

Promoters and enhancers for CBWD2 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
GH02J113437 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 663.5 +0.3 300 1.7 HDAC1 MXI1 ATF1 SIN3A E4F1 ZEB1 ZNF335 E2F1 POLR2A ELK1 CBWD2 LOC101927400 FOXD4L1
GH02J112792 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -642.9 -642924 4.4 HDGF PKNOX1 ARNT ZNF766 CBX5 E2F8 JUNB REST ZNF592 MEF2D IL1B IL1RN ANAPC1 IL1A CKAP2L CBWD2 RGPD8 IL36G ZC3H6 TMEM87B
GH02J113239 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.1 -196.7 -196650 3.9 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FOS ZNF263 SP3 SP5 PAX8-AS1 WASH2P CBWD2 RNU6-1180P IL1RN PAX8 GC02M113274
GH02J113376 Enhancer 1.2 FANTOM5 Ensembl ENCODE 8.8 -60.7 -60708 1.2 SRF PKNOX1 ZNF687 JUNB MEF2B ELF1 DPF2 ATF2 IKZF1 ATF7 IL1RN IL36B PAX8 PAX8-AS1 PSD4 RNU6-1180P CBWD2 IL36G GC02P113622 IGKV1OR2-108
GH02J113323 Enhancer 1.3 Ensembl ENCODE dbSUPER 7.3 -112.8 -112822 2.4 HDAC1 PKNOX1 NFIB ZSCAN4 SIN3A ZNF48 ZNF335 GLIS2 ZNF366 SCRT2 LOC101927400 LOC105373567 PAX8 PAX8-AS1 PSD4 CBWD2 ACTR3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CBWD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CBWD2 gene promoter:
  • MRF-2
  • ATF-2
  • HNF-4alpha2
  • HNF-4alpha1
  • GATA-1
  • GCNF
  • GCNF-1
  • GCNF-2
  • Cdc5
  • Pax-6

Genomic Locations for CBWD2 Gene

Genomic Locations for CBWD2 Gene
chr2:113,437,691-113,496,204
(GRCh38/hg38)
Size:
58,514 bases
Orientation:
Plus strand
chr2:114,195,268-114,253,781
(GRCh37/hg19)
Size:
58,514 bases
Orientation:
Plus strand

Genomic View for CBWD2 Gene

Genes around CBWD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBWD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBWD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBWD2 Gene

Proteins for CBWD2 Gene

  • Protein details for CBWD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUF1-CBWD2_HUMAN
    Recommended name:
    COBW domain-containing protein 2
    Protein Accession:
    Q8IUF1
    Secondary Accessions:
    • Q0VAN3

    Protein attributes for CBWD2 Gene

    Size:
    395 amino acids
    Molecular mass:
    44034 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CBWD2 Gene

Post-translational modifications for CBWD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CBWD2 Gene

Domains & Families for CBWD2 Gene

Gene Families for CBWD2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CBWD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IUF1

UniProtKB/Swiss-Prot:

CBWD2_HUMAN :
  • Belongs to the SIMIBI class G3E GTPase family. CobW subfamily.
Family:
  • Belongs to the SIMIBI class G3E GTPase family. CobW subfamily.
genes like me logo Genes that share domains with CBWD2: view

Function for CBWD2 Gene

Phenotypes From GWAS Catalog for CBWD2 Gene

Gene Ontology (GO) - Molecular Function for CBWD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CBWD2: view

Animal Model Products

miRNA for CBWD2 Gene

miRTarBase miRNAs that target CBWD2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CBWD2 Gene

Localization for CBWD2 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 CBWD2 gene
Compartment Confidence
nucleus 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CBWD2 Gene

Pathways & Interactions for CBWD2 Gene

SuperPathways for CBWD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CBWD2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CBWD2 Gene

Drugs & Compounds for CBWD2 Gene

No Compound Related Data Available

Transcripts for CBWD2 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CBWD2 Gene

No ASD Table

Relevant External Links for CBWD2 Gene

GeneLoc Exon Structure for
CBWD2
ECgene alternative splicing isoforms for
CBWD2

Expression for CBWD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CBWD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CBWD2 Gene:

CBWD2

Evidence on tissue expression from TISSUES for CBWD2 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with CBWD2: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CBWD2 Gene

Orthologs for CBWD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CBWD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 98 (a)
ManyToMany
-- 34
  • 96 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 90 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cbwd1 34
  • 80 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves CBWD1 34
  • 73 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 72 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii cbwd 34
  • 72 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 32 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G15730 33
  • 52.12 (n)
rice
(Oryza sativa)
Liliopsida Os04g0599700 33
  • 51.02 (n)
Species where no ortholog for CBWD2 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CBWD2 Gene

ENSEMBL:
Gene Tree for CBWD2 (if available)
TreeFam:
Gene Tree for CBWD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CBWD2: view image

Paralogs for CBWD2 Gene

Paralogs for CBWD2 Gene

(5) SIMAP similar genes for CBWD2 Gene using alignment to 5 proteins:

  • CBWD2_HUMAN
  • C9J3G2_HUMAN
  • F8WEG4_HUMAN
  • F8WEU0_HUMAN
  • F8WFD0_HUMAN
genes like me logo Genes that share paralogs with CBWD2: view

Variants for CBWD2 Gene

Sequence variations from dbSNP and Humsavar for CBWD2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000045085 -- 113,476,621(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000184934 -- 113,440,587(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000251478 -- 113,487,235(+) A/C genic_downstream_transcript_variant, intron_variant
rs1000468439 -- 113,441,096(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000522571 -- 113,439,132(+) C/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CBWD2 Gene

Variant ID Type Subtype PubMed ID
esv2759085 CNV gain+loss 17122850
esv28287 CNV gain 19812545
esv3559956 CNV deletion 23714750
esv3592016 CNV gain 21293372
nsv1002255 CNV gain 25217958
nsv10130 CNV gain 18304495
nsv834334 CNV gain 17160897
nsv954794 CNV duplication 24416366
nsv961492 CNV duplication 23825009
nsv961999 CNV duplication 23825009
nsv963707 CNV duplication 23825009
nsv979106 CNV duplication 23825009

Variation tolerance for CBWD2 Gene

Residual Variation Intolerance Score: 74.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.00; 60.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CBWD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBWD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBWD2 Gene

Disorders for CBWD2 Gene

Additional Disease Information for CBWD2

No disorders were found for CBWD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CBWD2 Gene

Publications for CBWD2 Gene

  1. Diverse fates of paralogs following segmental duplication of telomeric genes. (PMID: 15233989) Wong A … Ledbetter DH (Genomics 2004) 2 3 4 58
  2. Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions. (PMID: 12421752) Fan Y … Trask BJ (Genome research 2002) 2 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 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 CBWD2 Gene

Sources for CBWD2 Gene

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