Aliases for MANBAL Gene

Aliases for MANBAL Gene

  • Mannosidase Beta Like 2 3 5
  • Mannosidase, Beta A, Lysosomal-Like 2 3
  • Mannosidase Beta A Like 2 3
  • Protein MANBAL 3 4
  • DJ1141E15.2 2
  • MANBAL 5

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. Diseases associated with MANBAL include Colorectal Cancer, Hereditary Nonpolyposis, Type 7.

Additional gene information for MANBAL 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 MANBAL Gene

Genomics for MANBAL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MANBAL 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 MANBAL on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the MANBAL gene promoter:
  • AP-1
  • AP-4
  • E4BP4
  • En-1
  • GATA-6
  • HEN1
  • Lmo2
  • Pax-2
  • Pax-2a
  • Pax-2b

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)
Size:
27,623 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

InterPro:
Blocks:
  • Protein of unknown function UPF0239
ProtoNet:

Suggested Antigen Peptide Sequences for MANBAL Gene

GenScript: Design optimal peptide antigens:
  • Protein MANBAL (MANBL_HUMAN)

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

Phenotypes From GWAS Catalog 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

  • Taconic Biosciences Mouse Models for MANBAL

CRISPR Products

Inhibitory RNA Products

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

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
plasma membrane 2
mitochondrion 2
cytoskeleton 1
cytosol 1
extracellular 0
nucleus 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (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

PathCards logo

SuperPathways for MANBAL Gene

No Data Available

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

mRNA/cDNA for MANBAL Gene

9 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 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 MANBAL

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

Expression for MANBAL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



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

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 30 31
  • 99.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MANBAL 30 31
  • 89.19 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MANBAL 30 31
  • 88.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Manbal 30
  • 87.84 (n)
Mouse
(Mus musculus)
Mammalia Manbal 30 17 31
  • 87.84 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MANBAL 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MANBAL 31
  • 51 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 58 (a)
OneToMany
-- 31
  • 45 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia MANBAL 31
  • 68 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii MANBAL 31
  • 57 (a)
OneToOne
Species where no ortholog for MANBAL 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 MANBAL Gene

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

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

Additional dbSNP identifiers (rs#s) for MANBAL Gene

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

Disorders for MANBAL Gene

MalaCards: The human disease database

(1) MalaCards diseases for MANBAL Gene - From: DISEASES

Disorder Aliases PubMed IDs
colorectal cancer, hereditary nonpolyposis, type 7
  • hnpcc7
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with MANBAL: view

No data available for 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
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3

Products for MANBAL Gene

Sources for MANBAL Gene