Aliases for MB21D2 Gene

Aliases for MB21D2 Gene

  • Mab-21 Domain Containing 2 2 3 5
  • Mab-21 Domain-Containing Protein 2 3 4
  • Protein MB21D2 3 4
  • C3orf59 3 4
  • Chromosome 3 Open Reading Frame 59 2

External Ids for MB21D2 Gene

Previous HGNC Symbols for MB21D2 Gene

  • C3orf59

Previous GeneCards Identifiers for MB21D2 Gene

  • GC03M192515

Summaries for MB21D2 Gene

GeneCards Summary for MB21D2 Gene

MB21D2 (Mab-21 Domain Containing 2) is a Protein Coding gene. An important paralog of this gene is TMEM102.

Additional gene information for MB21D2 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 MB21D2 Gene

Genomics for MB21D2 Gene

GeneHancer (GH) Regulatory Elements for MB21D2 Gene

Promoters and enhancers for MB21D2 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
GH03J192913 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 519.7 +1.8 1776 5.4 EP300 CTCF SIN3A PHF8 TEAD4 ZNF639 CLOCK ZBTB26 TRIM28 KLF4 MB21D2 piR-39099-176
GH03J192883 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 40.7 +24.8 24828 20.5 EP300 ZNF217 TCF12 SP1 NCOR1 JUND FOS TEAD4 ZNF639 ZIC2 MB21D2 VEZF1P1 piR-39099-176
GH03J192875 Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 34.2 +39.0 39047 7.2 ZNF217 JUND FOS TEAD4 ZFX ZNF639 REST CLOCK CUX1 CHD1 MB21D2 VEZF1P1 piR-39099-176
GH03J192904 Enhancer 1.1 Ensembl ENCODE dbSUPER 24.6 +11.6 11550 4.9 ZNF217 ZSCAN5C JUND ZNF623 RFX1 CUX1 CHD1 GATAD2B MXI1 CTBP1 MB21D2 piR-39099-176
GH03J192839 Enhancer 1.2 Ensembl ENCODE 22.7 +71.0 71048 14.6 RXRA EP300 FOXK2 ZBTB40 ZNF217 TCF12 SP1 NCOR1 JUND FOS MB21D2 VEZF1P1 piR-39099-176
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MB21D2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MB21D2

Genomic Locations for MB21D2 Gene

Genomic Locations for MB21D2 Gene
chr3:192,796,815-192,918,161
(GRCh38/hg38)
Size:
121,347 bases
Orientation:
Minus strand
chr3:192,514,604-192,635,950
(GRCh37/hg19)
Size:
121,347 bases
Orientation:
Minus strand

Genomic View for MB21D2 Gene

Genes around MB21D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MB21D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MB21D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MB21D2 Gene

Proteins for MB21D2 Gene

  • Protein details for MB21D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYB1-M21D2_HUMAN
    Recommended name:
    Protein MB21D2
    Protein Accession:
    Q8IYB1
    Secondary Accessions:
    • Q86VD8

    Protein attributes for MB21D2 Gene

    Size:
    491 amino acids
    Molecular mass:
    55800 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH13123.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH45582.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for MB21D2 Gene

Post-translational modifications for MB21D2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MB21D2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MB21D2 Gene

Domains & Families for MB21D2 Gene

Gene Families for MB21D2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MB21D2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MB21D2 Gene

GenScript: Design optimal peptide antigens:
  • Mab-21 domain-containing protein 2 (M21D2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IYB1

UniProtKB/Swiss-Prot:

M21D2_HUMAN :
  • Belongs to the mab-21 family.
Family:
  • Belongs to the mab-21 family.
genes like me logo Genes that share domains with MB21D2: view

Function for MB21D2 Gene

Phenotypes From GWAS Catalog for MB21D2 Gene

Gene Ontology (GO) - Molecular Function for MB21D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044877 protein-containing complex binding IDA 23209302
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with MB21D2: view
genes like me logo Genes that share phenotypes with MB21D2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MB21D2 Gene

Localization for MB21D2 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 MB21D2 gene
Compartment Confidence
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MB21D2 Gene

Pathways & Interactions for MB21D2 Gene

PathCards logo

SuperPathways for MB21D2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MB21D2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MB21D2 Gene

Drugs & Compounds for MB21D2 Gene

No Compound Related Data Available

Transcripts for MB21D2 Gene

mRNA/cDNA for MB21D2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MB21D2 Gene

No ASD Table

Relevant External Links for MB21D2 Gene

GeneLoc Exon Structure for
MB21D2

Expression for MB21D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MB21D2 Gene

Protein differential expression in normal tissues from HIPED for MB21D2 Gene

This gene is overexpressed in Plasma (27.6), Placenta (14.6), Testis (11.1), and Fetal Brain (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MB21D2 Gene



Protein tissue co-expression partners for MB21D2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MB21D2

SOURCE GeneReport for Unigene cluster for MB21D2 Gene:

Hs.151443

Evidence on tissue expression from TISSUES for MB21D2 Gene

  • Nervous system(4.3)
  • Liver(4)
genes like me logo Genes that share expression patterns with MB21D2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MB21D2 Gene

Orthologs for MB21D2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MB21D2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MB21D2 31 30
  • 99.66 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MB21D2 31
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MB21D2 31 30
  • 93.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MB21D2 31 30
  • 93.21 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MB21D2 31
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mb21d2 17 31 30
  • 89.61 (n)
rat
(Rattus norvegicus)
Mammalia Mb21d2 30
  • 88.87 (n)
chicken
(Gallus gallus)
Aves MB21D2 31 30
  • 83.91 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mb21d2 30
  • 78.66 (n)
Str.16029 30
zebrafish
(Danio rerio)
Actinopterygii mb21d2a 31
  • 76 (a)
OneToOne
mb21d2 30
  • 73.76 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 49 (a)
ManyToMany
CSA.9655 31
  • 47 (a)
ManyToMany
Cin.14604 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14604 30
Species where no ortholog for MB21D2 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)
  • lizard (Anolis carolinensis)
  • 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 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 MB21D2 Gene

ENSEMBL:
Gene Tree for MB21D2 (if available)
TreeFam:
Gene Tree for MB21D2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MB21D2: view image

Paralogs for MB21D2 Gene

genes like me logo Genes that share paralogs with MB21D2: view

Variants for MB21D2 Gene

Additional dbSNP identifiers (rs#s) for MB21D2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MB21D2 Gene

Variant ID Type Subtype PubMed ID
dgv308n21 CNV loss 19592680
dgv5010n100 CNV gain 25217958
dgv847n67 CNV loss 20364138
dgv8809n54 CNV gain 21841781
esv2662415 CNV deletion 23128226
esv2674918 CNV deletion 23128226
esv2760768 CNV loss 21179565
esv3599159 CNV loss 21293372
esv3599161 CNV loss 21293372
esv3599162 CNV loss 21293372
esv3599163 CNV loss 21293372
esv3599164 CNV loss 21293372
esv997039 CNV deletion 20482838
nsv1007014 CNV gain 25217958
nsv1074651 CNV deletion 25765185
nsv1117049 CNV deletion 24896259
nsv1150889 CNV deletion 26484159
nsv437906 CNV loss 16468122
nsv461124 CNV gain 19166990
nsv471138 CNV gain 18288195
nsv476711 CNV novel sequence insertion 20440878
nsv592907 CNV loss 21841781

Variation tolerance for MB21D2 Gene

Residual Variation Intolerance Score: 63.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.71; 46.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MB21D2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MB21D2

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 MB21D2 Gene

Disorders for MB21D2 Gene

Additional Disease Information for MB21D2

No disorders were found for MB21D2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MB21D2 Gene

Publications for MB21D2 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 54
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 54
  3. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 54

Products for MB21D2 Gene

Sources for MB21D2 Gene