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Aliases for MANBAL Gene

Aliases for MANBAL Gene

  • Mannosidase Beta Like 2 3 5
  • Mannosidase, Beta A, Lysosomal-Like 2
  • Mannosidase Beta A Like 2

External Ids for MANBAL Gene

Previous GeneCards Identifiers for MANBAL Gene

  • GC20P035653
  • GC20P036556
  • GC20P036603
  • GC20P035351
  • GC20P035918
  • GC20P032653

Summaries for MANBAL Gene

GeneCards Summary for MANBAL Gene

MANBAL (Mannosidase Beta Like) is a Protein Coding gene.

Additional gene information for MANBAL 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 MANBAL Gene

Genomics for MANBAL Gene

GeneHancer (GH) Regulatory Elements for MANBAL Gene

Promoters and enhancers for MANBAL 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
GH20I037288 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.3 309 2.8 HDGF PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 MANBAL RPN2 TTI1 CTNNBL1 DSN1 TLDC2 GC20P037271 PIR39095 GC20M037240
GH20I037293 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 583.8 +6.6 6556 5.6 PKNOX1 KLF17 BATF ZEB1 ZNF366 FOS IKZF2 RUNX3 SP3 USF2 MANBAL SRC SAMHD1 CTNNBL1 PIR39095 GC20M037240
GH20I037289 Enhancer 0.8 ENCODE dbSUPER 550.8 -1.4 -1393 0.3 SMARCE1 KLF11 L3MBTL2 NR4A1 CEBPB CEBPG DPF2 ZNF766 CEBPA IKZF1 MANBAL GHRH GC20P037271 GC20M037240
GH20I037343 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31.2 +57.4 57377 7.8 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF143 SRC GC20M037240 MANBAL MROH8 TTI1 DSN1 CTNNBL1 SAMHD1 LOC105372606 RPL7AP14
GH20I037307 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 36.3 +24.7 24650 12.9 HDGF PKNOX1 ATF1 FOXA2 FEZF1 ZBTB40 BATF IRF4 SCRT2 ATF7 MANBAL GHRH GC20P037320 PIR39095 GC20M037319 GC20M037240
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MANBAL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MANBAL gene promoter:

Genomic Locations for MANBAL Gene

Genomic Locations for MANBAL Gene
chr20:37,289,638-37,317,260
(GRCh38/hg38)
Size:
27,623 bases
Orientation:
Plus strand
chr20:35,918,041-35,945,663
(GRCh37/hg19)

Genomic View for MANBAL Gene

Genes around MANBAL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MANBAL Gene

Proteins for MANBAL Gene

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

    Protein Symbol:
    Q9NQG1-MANBL_HUMAN
    Recommended name:
    Protein MANBAL
    Protein Accession:
    Q9NQG1
    Secondary Accessions:
    • A8KAA6
    • E1P5V3

    Protein attributes for MANBAL Gene

    Size:
    85 amino acids
    Molecular mass:
    9467 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MANBAL Gene

Post-translational modifications for MANBAL Gene

No Post-translational modifications

Other Protein References for MANBAL Gene

No data available for DME Specific Peptides for MANBAL Gene

Domains & Families for MANBAL Gene

Gene Families for MANBAL Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for MANBAL Gene

Suggested Antigen Peptide Sequences for MANBAL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQG1

UniProtKB/Swiss-Prot:

MANBL_HUMAN :
  • Belongs to the UPF0239 family.
Family:
  • Belongs to the UPF0239 family.
genes like me logo Genes that share domains with MANBAL: view

Function for MANBAL Gene

Gene Ontology (GO) - Molecular Function for MANBAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MANBAL: view
genes like me logo Genes that share phenotypes with MANBAL: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for MANBAL Gene

Subcellular locations from UniProtKB/Swiss-Prot for MANBAL Gene

Membrane; Single-pass membrane protein.

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 MANBAL gene
Compartment Confidence
mitochondrion 3
plasma membrane 2
extracellular 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MANBAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MANBAL: view

Pathways & Interactions for MANBAL Gene

SuperPathways for MANBAL Gene

No Data Available

Interacting Proteins for MANBAL Gene

Selected Interacting proteins: Q9NQG1-MANBL_HUMAN for MANBAL Gene via UniProtKB IID

Gene Ontology (GO) - Biological Process for MANBAL Gene

None

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

Drugs & Compounds for MANBAL Gene

No Compound Related Data Available

Transcripts for MANBAL Gene

Unigene Clusters for MANBAL Gene

Mannosidase, beta A, lysosomal-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e
SP1: - -
SP2: -
SP3: - - - - - -
SP4: - - -
SP5: -
SP6: - - - - - - -
SP7: -

Relevant External Links for MANBAL Gene

GeneLoc Exon Structure for
MANBAL
ECgene alternative splicing isoforms for
MANBAL

Expression for MANBAL Gene

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

Protein differential expression in normal tissues from HIPED for MANBAL Gene

This gene is overexpressed in Nasal epithelium (65.8).

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



NURSA nuclear receptor signaling pathways regulating expression of MANBAL Gene:

MANBAL

SOURCE GeneReport for Unigene cluster for MANBAL Gene:

Hs.6126

Evidence on tissue expression from TISSUES for MANBAL Gene

  • Lung(4.3)
  • Bone marrow(4.1)
  • Nervous system(3.4)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with MANBAL: view

Primer Products

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

Orthologs for MANBAL Gene

This gene was present in the common ancestor of chordates.

Orthologs for MANBAL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MANBAL 33 34
  • 99.22 (n)
dog
(Canis familiaris)
Mammalia MANBAL 33 34
  • 89.19 (n)
cow
(Bos Taurus)
Mammalia MANBAL 33 34
  • 88.29 (n)
mouse
(Mus musculus)
Mammalia Manbal 33 16 34
  • 87.84 (n)
rat
(Rattus norvegicus)
Mammalia Manbal 33
  • 87.84 (n)
oppossum
(Monodelphis domestica)
Mammalia MANBAL 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MANBAL 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 58 (a)
OneToMany
-- 34
  • 45 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia MANBAL 34
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii MANBAL 34
  • 57 (a)
OneToOne
Species where no ortholog for MANBAL 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 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)
  • 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 MANBAL Gene

ENSEMBL:
Gene Tree for MANBAL (if available)
TreeFam:
Gene Tree for MANBAL (if available)

Paralogs for MANBAL Gene

Pseudogenes.org Pseudogenes for MANBAL Gene

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

No data available for Paralogs for MANBAL Gene

Variants for MANBAL Gene

Sequence variations from dbSNP and Humsavar for MANBAL Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000155069 -- 37,297,003(+) A/G 5_prime_UTR_variant, intron_variant
rs1000258340 -- 37,309,017(+) T/G intron_variant
rs1000265006 -- 37,291,627(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000317801 -- 37,291,318(+) T/A genic_upstream_transcript_variant, intron_variant
rs1000393157 -- 37,289,056(+) A/G upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv3645756 CNV loss 21293372
nsv1055206 CNV loss 25217958
nsv470551 CNV gain 18288195
nsv509767 CNV insertion 20534489
nsv524059 CNV loss 19592680
nsv585953 CNV loss 21841781

Variation tolerance for MANBAL Gene

Residual Variation Intolerance Score: 63.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MANBAL Gene

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

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

Disorders for MANBAL Gene

Additional Disease Information for MANBAL

No disorders were found for MANBAL Gene.

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

Publications for MANBAL Gene

  1. 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 58
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 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. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  5. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. (PMID: 21078624) Kahle JJ … Zoghbi HY (Human molecular genetics 2011) 3 58

Products for MANBAL Gene

Sources for MANBAL Gene

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