Aliases for BBLN Gene

Aliases for BBLN Gene

  • Bublin Coiled Coil Protein 2 3
  • Chromosome 9 Open Reading Frame 16 2 5
  • UPF0184 Protein C9orf16 3 4
  • EST00098 2 3
  • C9orf16 3 5
  • FLJ12823 2
  • MGC4639 2

External Ids for BBLN Gene

Previous HGNC Symbols for BBLN Gene

  • C9orf16

Summaries for BBLN Gene

GeneCards Summary for BBLN Gene

BBLN (Bublin Coiled Coil Protein) is a Protein Coding 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 BBLN Gene

Genomics for BBLN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BBLN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Genomic Locations for BBLN Gene

Latest Assembly
chr9:128,159,425-128,163,926
(GRCh38/hg38)
Size:
4,502 bases
Orientation:
Plus strand

Previous Assembly
chr9:130,922,544-130,926,203
(GRCh37/hg19 by Entrez Gene)
Size:
3,660 bases
Orientation:
Plus strand

chr9:130,922,539-130,926,207
(GRCh37/hg19 by Ensembl)
Size:
3,669 bases
Orientation:
Plus strand

Genomic View for BBLN Gene

Genes around BBLN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BBLN Gene

Proteins for BBLN Gene

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

    Protein Symbol:
    Q9BUW7-CI016_HUMAN
    Recommended name:
    UPF0184 protein C9orf16
    Protein Accession:
    Q9BUW7
    Secondary Accessions:
    • Q5SYV8
    • Q9Y3F7

    Protein attributes for BBLN Gene

    Size:
    83 amino acids
    Molecular mass:
    9054 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BBLN Gene

Post-translational modifications for BBLN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BBLN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BBLN Gene

Domains & Families for BBLN Gene

Gene Families for BBLN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BBLN Gene

InterPro:

Suggested Antigen Peptide Sequences for BBLN Gene

GenScript: Design optimal peptide antigens:
  • UPF0184 protein C9orf16 (CI016_HUMAN)
  • EST00098 protein (Q9Y3F6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BUW7

UniProtKB/Swiss-Prot:

CI016_HUMAN :
  • Belongs to the UPF0184 (EST00098) family.
Family:
  • Belongs to the UPF0184 (EST00098) family.
genes like me logo Genes that share domains with BBLN: view

Function for BBLN Gene

Phenotypes From GWAS Catalog for BBLN Gene

Gene Ontology (GO) - Molecular Function for BBLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with BBLN: view
genes like me logo Genes that share phenotypes with BBLN: view

Animal Models for BBLN Gene

MGI Knock Outs for BBLN:

miRNA for BBLN Gene

miRTarBase miRNAs that target BBLN

Inhibitory RNAs for research

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

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

Localization for BBLN 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 BBLN gene
Compartment Confidence
extracellular 2
cytoskeleton 2
plasma membrane 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BBLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with BBLN: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BBLN Gene

Pathways & Interactions for BBLN Gene

PathCards logo

SuperPathways for BBLN Gene

No Data Available

Gene Ontology (GO) - Biological Process for BBLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with BBLN: view

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

Drugs & Compounds for BBLN Gene

No Compound Related Data Available

Transcripts for BBLN Gene

mRNA/cDNA for BBLN Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 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 BBLN

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

No ASD Table

Relevant External Links for BBLN Gene

GeneLoc Exon Structure for
BBLN

Expression for BBLN Gene

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

SOURCE GeneReport for Unigene cluster for BBLN Gene:

Hs.522412

Evidence on tissue expression from TISSUES for BBLN Gene

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

Primer products for research

No data available for mRNA expression in normal human tissues , 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 BBLN Gene

Orthologs for BBLN Gene

This gene was present in the common ancestor of chordates.

Orthologs for BBLN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C9ORF16 30
  • 100 (a)
OneToOne
LOC740632 29
  • 99.6 (n)
Cow
(Bos Taurus)
Mammalia C11H9orf16 29 30
  • 93.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia C9H9orf16 29
  • 92.77 (n)
C9orf16 30
  • 64 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1561113 29
  • 91.16 (n)
Mouse
(Mus musculus)
Mammalia 1110008P14Rik 29 16 30
  • 90.36 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C9orf16 30
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C9orf16 30
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C17H9ORF16 29 30
  • 80.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C9orf16 30
  • 85 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii C5H9orf16 30
  • 60 (a)
OneToOne
Species where no ortholog for BBLN 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)
  • 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 BBLN Gene

ENSEMBL:
Gene Tree for BBLN (if available)
TreeFam:
Gene Tree for BBLN (if available)
Alliance of Genome Resources:
Additional Orthologs for BBLN

Paralogs for BBLN Gene

Pseudogenes.org Pseudogenes for BBLN Gene

genes like me logo Genes that share paralogs with BBLN: view

No data available for Paralogs for BBLN Gene

Variants for BBLN Gene

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

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

Variation tolerance for BBLN Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BBLN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBLN
Leiden Open Variation Database (LOVD)
BBLN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for BBLN Gene

Disorders for BBLN Gene

Additional Disease Information for BBLN

No disorders were found for BBLN Gene.

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

Publications for BBLN Gene

  1. Extensive gene order differences within regions of conserved synteny between the Fugu and human genomes: implications for chromosomal evolution and the cloning of disease genes. (PMID: 10369878) Gilley J … Fried M (Human molecular genetics 1999) 2 3 4
  2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

No data available for Mastermind for BBLN Gene

Products for BBLN Gene

Sources for BBLN Gene