Aliases for MAMDC2 Gene

Aliases for MAMDC2 Gene

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

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. Gene Ontology (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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAMDC2 Gene

Genomics for MAMDC2 Gene

GeneHancer (GH) Regulatory Elements for MAMDC2 Gene

Promoters and enhancers for MAMDC2 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 MAMDC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAMDC2

Top Transcription factor binding sites by QIAGEN in the MAMDC2 gene promoter:
  • AML1a
  • Cart-1
  • FOXF2
  • GCNF
  • GCNF-1
  • HSF1 (long)
  • HSF1short
  • LCR-F1
  • NF-1
  • NF-1/L

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)
Size:
183,392 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

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

Blocks:
  • MAM domain signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAMDC2 Gene

GenScript: Design optimal peptide antigens:
  • MAM domain-containing proteoglycan (MAMC2_HUMAN)
genes like me logo Genes that share domains with MAMDC2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MAMDC2 Gene

Function for MAMDC2 Gene

Phenotypes From GWAS Catalog for MAMDC2 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for MAMDC2

CRISPR Products

miRNA for MAMDC2 Gene

miRTarBase miRNAs that target MAMDC2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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
extracellular 4
endoplasmic reticulum 4
plasma membrane 2
cytoskeleton 1
nucleus 1
mitochondrion 0
cytosol 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAMDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
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

PathCards logo

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

mRNA/cDNA for MAMDC2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 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 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

Expression for MAMDC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for MAMDC2 Gene



Protein tissue co-expression partners for MAMDC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MAMDC2 31 30
  • 90.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LOC788176 30
  • 89.94 (n)
MAMDC2 31
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mamdc2 17 31 30
  • 86.78 (n)
rat
(Rattus norvegicus)
Mammalia Mamdc2 30
  • 85.59 (n)
oppossum
(Monodelphis domestica)
Mammalia MAMDC2 31
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAMDC2 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAMDC2 31 30
  • 76.27 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAMDC2 31
  • 15 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mamdc2 30
  • 67.42 (n)
African clawed frog
(Xenopus laevis)
Amphibia geneB-A-prov 30
zebrafish
(Danio rerio)
Actinopterygii mamdc2a 31 30
  • 60.71 (n)
OneToMany
mamdc2b 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MAMDC2: view image

Paralogs for MAMDC2 Gene

Paralogs for MAMDC2 Gene

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

  • MAMC2_HUMAN
genes like me logo Genes that share paralogs with MAMDC2: view

Variants for MAMDC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAMDC2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
713716 Benign: not provided 70,218,559(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
778428 Benign: not provided 70,168,752(+) C/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
778429 Benign: not provided 70,225,775(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
779927 Benign: not provided 70,170,561(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs193920950 Uncertain Significance: Malignant tumor of prostate 70,044,607(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for MAMDC2 Gene

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

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

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)

Additional Variant Information 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

Additional Disease Information for MAMDC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MAMDC2 Gene.

No data available for MalaCards , 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 41 54
  2. 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
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 54
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for MAMDC2 Gene

Sources for MAMDC2 Gene