Aliases for BMERB1 Gene

Aliases for BMERB1 Gene

  • BMERB Domain Containing 1 2 3 5
  • BMERB Domain-Containing Protein 1 3 4
  • C16orf45 3 4
  • Chromosome 16 Open Reading Frame 45 2
  • Uncharacterized Protein C16orf45 3
  • Migration Inhibitory Protein 3
  • FLJ32618 2
  • BMERB1 5
  • MINP 3

External Ids for BMERB1 Gene

Previous HGNC Symbols for BMERB1 Gene

  • C16orf45

Summaries for BMERB1 Gene

GeneCards Summary for BMERB1 Gene

BMERB1 (BMERB Domain Containing 1) is a Protein Coding gene. Diseases associated with BMERB1 include Barre-Lieou Syndrome and Epilepsy, Idiopathic Generalized 3.

Additional gene information for BMERB1 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 BMERB1 Gene

Genomics for BMERB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BMERB1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J015433 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.7 678 2.5 CREB1 PRDM10 KDM1A POLR2A PATZ1 ZNF600 ZNF341 CEBPA NRF1 ZBTB20 BMERB1 LOC100505915 LOC105371102 MARF1
GH16J015501 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 610.6 +67.9 67880 2.1 PRDM10 ZNF629 IKZF1 ZNF692 JUND PRDM1 MTA2 ZIC2 PKNOX1 PATZ1 BMERB1 MPV17L NPIPA1 LOC105371102 MARF1
GH16J015519 Enhancer 1.2 FANTOM5 ENCODE 35.8 +87.2 87170 4 ARHGAP35 GATAD2A HNRNPL TFE3 LEF1 IKZF1 NFKBIZ CTCF JUND DDX20 LOC105371102 piR-46501-041 BMERB1 MARF1 PARN NDE1 NPIPA2
GH16J015517 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 23.9 +84.2 84158 1.9 ARHGAP35 HNRNPL PRDM10 IKZF1 ZNF776 ZSCAN4 POLR2A ZNF239 TCF12 ZNF148 PARN BMERB1 BFAR LOC100505915 PKD1P6 RRN3 PKD1P3 PKD1P1 ENSG00000183889 NPIPA1
GH16J014973 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -459.1 -459074 4 SP1 CREB1 ATF7 PRDM10 ZNF629 SIX5 LEF1 IKZF1 NFKBIZ ZNF692 PDXDC1 HSALNG0109779 PKD1P3 LOC100505915 NPIPA2 NPIPA5 NPIPA3 PARN RRN3 NPIPA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMERB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BMERB1

Genomic Locations for BMERB1 Gene

Genomic Locations for BMERB1 Gene
190,554 bases
Plus strand
190,734 bases
Plus strand

Genomic View for BMERB1 Gene

Genes around BMERB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMERB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMERB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMERB1 Gene

Proteins for BMERB1 Gene

  • Protein details for BMERB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    bMERB domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • O00223
    • O75769
    • Q8IZ36
    • Q96H25

    Protein attributes for BMERB1 Gene

    204 amino acids
    Molecular mass:
    23732 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAC31663.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for BMERB1 Gene


neXtProt entry for BMERB1 Gene

Post-translational modifications for BMERB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BMERB1 Gene

Domains & Families for BMERB1 Gene

Gene Families for BMERB1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BMERB1 Gene

genes like me logo Genes that share domains with BMERB1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BMERB1 Gene

Function for BMERB1 Gene

Phenotypes From GWAS Catalog for BMERB1 Gene

Gene Ontology (GO) - Molecular Function for BMERB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24722188
genes like me logo Genes that share ontologies with BMERB1: view
genes like me logo Genes that share phenotypes with BMERB1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMERB1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BMERB1 Gene

Localization for BMERB1 Gene

Subcellular locations from

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 BMERB1 gene
Compartment Confidence
nucleus 4
cytosol 4
cytoskeleton 3
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 2
endosome 2
lysosome 2
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for BMERB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015630 microtubule cytoskeleton IEA --
genes like me logo Genes that share ontologies with BMERB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BMERB1 Gene

Pathways & Interactions for BMERB1 Gene

PathCards logo

SuperPathways for BMERB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BMERB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007026 negative regulation of microtubule depolymerization IEA --
GO:0021822 negative regulation of cell motility involved in cerebral cortex radial glia guided migration IEA --
genes like me logo Genes that share ontologies with BMERB1: view

No data available for Pathways by source and SIGNOR curated interactions for BMERB1 Gene

Drugs & Compounds for BMERB1 Gene

No Compound Related Data Available

Transcripts for BMERB1 Gene

mRNA/cDNA for BMERB1 Gene

5 NCBI additional mRNA sequence :
11 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 BMERB1

Alternative Splicing Database (ASD) splice patterns (SP) for BMERB1 Gene

No ASD Table

Relevant External Links for BMERB1 Gene

GeneLoc Exon Structure for

Expression for BMERB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BMERB1

SOURCE GeneReport for Unigene cluster for BMERB1 Gene:


Evidence on tissue expression from TISSUES for BMERB1 Gene

  • Nervous system(4.8)
  • Muscle(4.6)
  • Stomach(4.5)
  • Heart(3.2)
  • Lung(3.2)
  • Kidney(3.1)
  • Liver(3.1)
  • Gall bladder(3)
  • Blood(2.7)
  • Intestine(2.7)
  • Skin(2.6)
  • Spleen(2.6)
  • Thyroid gland(2.5)
  • Urine(2.3)
  • Pancreas(2.3)
  • Lymph node(2.2)
  • Adrenal gland(2.2)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with BMERB1: view

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 BMERB1 Gene

Orthologs for BMERB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BMERB1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C16ORF45 31
  • 100 (a)
C16H16orf45 30
  • 99.84 (n)
(Canis familiaris)
Mammalia C16orf45 31
  • 97 (a)
C6H16orf45 30
  • 92.48 (n)
(Monodelphis domestica)
Mammalia C16orf45 31
  • 95 (a)
(Bos Taurus)
Mammalia C25H16orf45 30
  • 93.65 (n)
MGC140681 31
  • 88 (a)
(Mus musculus)
Mammalia 2900011O08Rik 30 31
  • 91.46 (n)
Bmerb1 17
(Rattus norvegicus)
Mammalia RGD1305733 30
  • 91.13 (n)
(Ornithorhynchus anatinus)
Mammalia C16orf45 31
  • 86 (a)
(Gallus gallus)
Aves C16ORF45 30 31
  • 77.12 (n)
(Anolis carolinensis)
Reptilia C16orf45 31
  • 61 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c16orf45 30
  • 73.1 (n)
(Danio rerio)
Actinopterygii zgc:114175 30
  • 65.58 (n)
C6H16orf45 31
  • 60 (a)
Species where no ortholog for BMERB1 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for BMERB1 Gene

Gene Tree for BMERB1 (if available)
Gene Tree for BMERB1 (if available)

Paralogs for BMERB1 Gene

No data available for Paralogs for BMERB1 Gene

Variants for BMERB1 Gene

Additional dbSNP identifiers (rs#s) for BMERB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BMERB1 Gene

Variant ID Type Subtype PubMed ID
dgv4924n54 CNV gain 21841781
esv2671884 CNV deletion 23128226
esv2678976 CNV deletion 23128226
esv2714015 CNV deletion 23290073
esv2714016 CNV deletion 23290073
esv3638032 CNV gain 21293372
esv3638033 CNV gain 21293372
esv3638034 CNV gain 21293372
esv3638035 CNV loss 21293372
esv3638036 CNV gain 21293372
esv3638037 CNV loss 21293372
nsv1035393 CNV gain 25217958
nsv1040547 CNV gain 25217958
nsv1045440 CNV gain 25217958
nsv1047898 CNV loss 25217958
nsv1049647 CNV gain+loss 25217958
nsv1125134 CNV deletion 24896259
nsv435664 CNV deletion 17901297
nsv457428 CNV gain 19166990
nsv510677 CNV deletion 20534489
nsv827568 CNV loss 20364138
nsv833147 CNV loss 17160897
nsv974766 CNV duplication 23825009
nsv977122 CNV duplication 23825009

Variation tolerance for BMERB1 Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.96; 19.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BMERB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BMERB1 Gene

Disorders for BMERB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BMERB1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
barre-lieou syndrome
  • cervicocranial syndrome
epilepsy, idiopathic generalized 3
  • epilepsy, idiopathic generalized, susceptibility to, 3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BMERB1

genes like me logo Genes that share disorders with BMERB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BMERB1 Gene

Publications for BMERB1 Gene

  1. bMERB domains are bivalent Rab8 family effectors evolved by gene duplication. (PMID: 27552051) Rai A … Müller MP (eLife 2016) 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. 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. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus BJ … Adams MD (Genomics 1999) 3 4
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3

No data available for Mastermind for BMERB1 Gene

Products for BMERB1 Gene

Sources for BMERB1 Gene