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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 Protein 2 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 and West Syndrome. GO annotations related to this gene include glycosaminoglycan binding. An important paralog of this gene is MAMDC4.

Additional gene information for MAMDC2 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 MAMDC2 Gene

Genomics for MAMDC2 Gene

Regulatory Elements for MAMDC2 Gene

Enhancers for MAMDC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H070159 1.3 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +117.2 117181 1.8 GFI1B ATF7 ATF2 MAMDC2-AS1 MAMDC2 SMC5 PIR60342
GH09H070255 1.6 FANTOM5 ENCODE dbSUPER 6.2 +214.7 214701 5.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 SP3 SMC5 MAMDC2-AS1 SMC5-AS1 PTAR1 MAMDC2 RPL24P8 GC09M070097
GH09H070042 1.1 Ensembl ENCODE dbSUPER 8.2 +1.3 1279 4.9 ZFHX2 ZNF610 POLR2A SP2 REST FOS EZH2 MAMDC2 MAMDC2-AS1 SMC5 GC09M070050
GH09H070047 1 Ensembl ENCODE dbSUPER 7.2 +6.1 6147 3.4 JUND POLR2A NR2F2 MAMDC2-AS1 MAMDC2 SMC5 GC09M070050
GH09H070065 0.5 ENCODE dbSUPER 12.5 +22.2 22221 0.2 MAMDC2 GC09M070050 PIR60342
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000235665 881 1201 ZFHX2 ZNF610 POLR2A REST FOS EZH2

Genomic Locations for MAMDC2 Gene

Genomic Locations for MAMDC2 Gene
chr9:70,043,519-70,226,972
(GRCh38/hg38)
Size:
183,454 bases
Orientation:
Plus strand
chr9:72,658,497-72,841,888
(GRCh37/hg19)

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

Post-translational modifications for MAMDC2 Gene

Other Protein References for MAMDC2 Gene

No data available for DME Specific Peptides for MAMDC2 Gene

Domains & Families for MAMDC2 Gene

Gene Families for MAMDC2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for MAMDC2 Gene

Suggested Antigen Peptide Sequences for MAMDC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 MAMDC2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 4
plasma membrane 2
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MAMDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MAMDC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MAMDC2 Gene

Pathways & Interactions for MAMDC2 Gene

SuperPathways for MAMDC2 Gene

No Data Available

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for MAMDC2 Gene



Protein tissue co-expression partners for MAMDC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAMDC2 Gene:

MAMDC2

SOURCE GeneReport for Unigene cluster for MAMDC2 Gene:

Hs.547172

Evidence on tissue expression from TISSUES for MAMDC2 Gene

  • Intestine(4.3)
genes like me logo Genes that share expression patterns with MAMDC2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia MAMDC2 33 34
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia MAMDC2 33 34
  • 90.72 (n)
cow
(Bos Taurus)
Mammalia LOC788176 33
  • 89.94 (n)
MAMDC2 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mamdc2 33 16 34
  • 86.78 (n)
rat
(Rattus norvegicus)
Mammalia Mamdc2 33
  • 85.59 (n)
oppossum
(Monodelphis domestica)
Mammalia MAMDC2 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAMDC2 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAMDC2 33 34
  • 76.27 (n)
lizard
(Anolis carolinensis)
Reptilia MAMDC2 34
  • 15 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mamdc2 33
  • 67.42 (n)
African clawed frog
(Xenopus laevis)
Amphibia geneB-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii mamdc2a 33 34
  • 60.71 (n)
mamdc2b 34
  • 47 (a)
OneToMany
Species where no ortholog for MAMDC2 was found in the sources mined by GeneCards:
  • 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
rs1000016584 -- 70,214,106(+) GTCCT(C/T)GTGAA intron-variant
rs1000016684 -- 70,208,906(+) GTCTT(C/T)GGTTC intron-variant
rs1000253440 -- 70,200,058(+) TAATT(A/G)GATCC intron-variant
rs1000313405 -- 70,220,465(+) CCAAA(C/T)GATGC intron-variant
rs1000369161 -- 70,085,653(+) CTAAC(C/T)CTCTG intron-variant, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
nsv972757 CNV duplication 23825009
nsv831613 CNV gain 17160897
nsv824947 CNV loss 20364138
nsv824946 CNV loss 20364138
nsv6555 CNV insertion 18451855
nsv6553 CNV insertion 18451855
nsv614583 CNV loss 21841781
nsv614582 CNV loss 21841781
nsv1047862 CNV gain 25217958
esv3620575 CNV loss 21293372
esv3620574 CNV loss 21293372
esv3620573 CNV loss 21293372
esv3620571 CNV loss 21293372
esv3620570 CNV gain 21293372
esv3544885 CNV deletion 23714750
esv2738541 CNV deletion 23290073
esv2675457 CNV deletion 23128226
esv2670457 CNV deletion 23128226
esv22588 CNV loss 19812545
dgv2158e212 CNV loss 25503493
dgv12748n54 CNV loss 21841781
dgv12747n54 CNV loss 21841781
dgv12746n54 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
MAMDC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAMDC2

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

Disorders for MAMDC2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
west syndrome
  • epileptic encephalopathy, early infantile, 1
- 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 JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 60
  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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for MAMDC2 Gene

Sources for MAMDC2 Gene

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