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Aliases for MAMDC2 Gene

Aliases for MAMDC2 Gene

  • MAM Domain Containing 2 2 3 5
  • MAM Domain-Containing Proteoglycan 3 4
  • Mamcan 3 4
  • MAM Domain Containing 1 3

External Ids for MAMDC2 Gene

Previous GeneCards Identifiers for MAMDC2 Gene

  • GC09P068115
  • GC09P069888
  • GC09P071848
  • GC09P072658
  • GC09P042498

Summaries for MAMDC2 Gene

GeneCards Summary for MAMDC2 Gene

MAMDC2 (MAM Domain Containing 2) is a Protein Coding gene. Diseases associated with MAMDC2 include kabuki syndrome 1. GO annotations related to this gene include glycosaminoglycan binding. An important paralog of this gene is MDGA2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAMDC2 Gene

Genomics for MAMDC2 Gene

Regulatory Elements for MAMDC2 Gene

Enhancers for MAMDC2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MAMDC2 on UCSC Golden Path with GeneCards custom track

Promoters for MAMDC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MAMDC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MAMDC2 Gene

Chromosome:
9
Start:
70,043,519 bp from pter
End:
70,226,972 bp from pter
Size:
183,454 bases
Orientation:
Plus strand

Genomic View for MAMDC2 Gene

Genes around MAMDC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAMDC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAMDC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAMDC2 Gene

Proteins for MAMDC2 Gene

  • Protein details for MAMDC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z304-MAMC2_HUMAN
    Recommended name:
    MAM domain-containing protein 2
    Protein Accession:
    Q7Z304
    Secondary Accessions:
    • Q5VW47
    • Q8WX43
    • Q96BM4

    Protein attributes for MAMDC2 Gene

    Size:
    686 amino acids
    Molecular mass:
    77556 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MAMDC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAMDC2 Gene

Proteomics data for MAMDC2 Gene at MOPED

Post-translational modifications for MAMDC2 Gene

Other Protein References for MAMDC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAMDC2 Gene

Domains & Families for MAMDC2 Gene

Protein Domains for MAMDC2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MAMDC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z304

UniProtKB/Swiss-Prot:

MAMC2_HUMAN :
  • Contains 4 MAM domains.
Domain:
  • Contains 4 MAM domains.
genes like me logo Genes that share domains with MAMDC2: view

No data available for Gene Families for MAMDC2 Gene

Function for MAMDC2 Gene

Phenotypes for MAMDC2 Gene

GenomeRNAi human phenotypes for MAMDC2:
genes like me logo Genes that share phenotypes with MAMDC2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MAMDC2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MAMDC2 Gene

Localization for MAMDC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAMDC2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAMDC2 Gene COMPARTMENTS Subcellular localization image for MAMDC2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 4
plasma membrane 2
cytosol 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MAMDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MAMDC2: view

Pathways & Interactions for MAMDC2 Gene

SuperPathways for MAMDC2 Gene

No Data Available

Interacting Proteins for MAMDC2 Gene

Gene Ontology (GO) - Biological Process for MAMDC2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MAMDC2 Gene

Drugs & Compounds for MAMDC2 Gene

No Compound Related Data Available

Transcripts for MAMDC2 Gene

Unigene Clusters for MAMDC2 Gene

MAM domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MAMDC2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b
SP1: - -
SP2: - -
SP3: -
SP4:

Relevant External Links for MAMDC2 Gene

GeneLoc Exon Structure for
MAMDC2
ECgene alternative splicing isoforms for
MAMDC2

Expression for MAMDC2 Gene

mRNA expression in normal human tissues for MAMDC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAMDC2 Gene

This gene is overexpressed in Fallopian Tube (x4.6).

Protein differential expression in normal tissues from HIPED for MAMDC2 Gene

This gene is overexpressed in Amniocyte (44.1) and Ovary (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAMDC2 Gene



SOURCE GeneReport for Unigene cluster for MAMDC2 Gene Hs.547172

genes like me logo Genes that share expression patterns with MAMDC2: view

Protein tissue co-expression partners for MAMDC2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MAMDC2 Gene

Orthologs for MAMDC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAMDC2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC788176 35
  • 89.94 (n)
  • 89.36 (a)
MAMDC2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAMDC2 35
  • 90.72 (n)
  • 92.42 (a)
MAMDC2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mamdc2 35
  • 86.78 (n)
  • 89.94 (a)
Mamdc2 16
Mamdc2 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAMDC2 35
  • 99.81 (n)
  • 99.85 (a)
MAMDC2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mamdc2 35
  • 85.59 (n)
  • 87.42 (a)
oppossum
(Monodelphis domestica)
Mammalia MAMDC2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAMDC2 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAMDC2 35
  • 76.27 (n)
  • 76.77 (a)
MAMDC2 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAMDC2 36
  • 15 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mamdc2 35
  • 67.42 (n)
  • 65.26 (a)
African clawed frog
(Xenopus laevis)
Amphibia geneB-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii mamdc2a 35
  • 60.71 (n)
  • 56.49 (a)
mamdc2a 36
  • 54 (a)
OneToMany
mamdc2b 36
  • 47 (a)
OneToMany
Species with no ortholog for MAMDC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAMDC2 Gene

ENSEMBL:
Gene Tree for MAMDC2 (if available)
TreeFam:
Gene Tree for MAMDC2 (if available)

Paralogs for MAMDC2 Gene

Paralogs for MAMDC2 Gene

(1) SIMAP similar genes for MAMDC2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MAMDC2: view

Variants for MAMDC2 Gene

Sequence variations from dbSNP and Humsavar for MAMDC2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_028080 -
VAR_061318 -
rs753022 -- 70,205,489(-) AGGCT(A/G)TGTGG intron-variant
rs753023 -- 70,205,482(-) GTGGA(A/G)TGGAC intron-variant
rs943540 -- 70,190,759(+) AAACA(A/G)TTAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAMDC2 Gene

Variant ID Type Subtype PubMed ID
nsv893438 CNV Gain 21882294
nsv831613 CNV Gain 17160897
esv2738541 CNV Deletion 23290073
esv2670457 CNV Deletion 23128226
nsv824946 CNV Loss 20364138
nsv824947 CNV Loss 20364138
esv22588 CNV Loss 19812545
nsv6553 CNV Insertion 18451855
esv2675457 CNV Deletion 23128226
nsv6555 CNV Insertion 18451855

Variation tolerance for MAMDC2 Gene

Residual Variation Intolerance Score: 86.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.16; 75.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAMDC2 Gene

HapMap Linkage Disequilibrium report
MAMDC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAMDC2 Gene

Disorders for MAMDC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MAMDC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MAMDC2

Genetic Association Database (GAD)
MAMDC2
Human Genome Epidemiology (HuGE) Navigator
MAMDC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAMDC2
genes like me logo Genes that share disorders with MAMDC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAMDC2 Gene

Publications for MAMDC2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A. … Wiemann S. (Nucleic Acids Res. 2006) 3
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3

Products for MAMDC2 Gene

Sources for MAMDC2 Gene

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