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Aliases for MAMDC4 Gene

Aliases for MAMDC4 Gene

  • MAM Domain Containing 4 2 3 5
  • MAM Domain-Containing Protein 4 3 4
  • Endotubin 2 3
  • AEGP 3 4
  • Apical Early Endosomal Glycoprotein Precursor 2
  • Apical Early Endosomal Glycoprotein 3
  • Apical Endosomal Glycoprotein 3

External Ids for MAMDC4 Gene

Previous GeneCards Identifiers for MAMDC4 Gene

  • GC09P137023
  • GC09P138866
  • GC09P139745
  • GC09P109206

Summaries for MAMDC4 Gene

GeneCards Summary for MAMDC4 Gene

MAMDC4 (MAM Domain Containing 4) is a Protein Coding gene. An important paralog of this gene is MALRD1.

UniProtKB/Swiss-Prot for MAMDC4 Gene

  • Probably involved in the sorting and selective transport of receptors and ligands across polarized epithelia.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAMDC4 Gene

Genomics for MAMDC4 Gene

Regulatory Elements for MAMDC4 Gene

Enhancers for MAMDC4 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around MAMDC4 on UCSC Golden Path with GeneCards custom track

Genomic Location for MAMDC4 Gene

Chromosome:
9
Start:
136,850,943 bp from pter
End:
136,860,799 bp from pter
Size:
9,857 bases
Orientation:
Plus strand

Genomic View for MAMDC4 Gene

Genes around MAMDC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAMDC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAMDC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAMDC4 Gene

Proteins for MAMDC4 Gene

  • Protein details for MAMDC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXC1-AEGP_HUMAN
    Recommended name:
    Apical endosomal glycoprotein
    Protein Accession:
    Q6UXC1
    Secondary Accessions:
    • A2A3D4
    • B0QZ81
    • Q5T5S2
    • Q8NCX7

    Protein attributes for MAMDC4 Gene

    Size:
    1216 amino acids
    Molecular mass:
    131499 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MAMDC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAMDC4 Gene

Post-translational modifications for MAMDC4 Gene

  • Glycosylation at Asn 203, Asn 281, Asn 339, Asn 583, Asn 636, and Asn 835
  • Modification sites at PhosphoSitePlus

Other Protein References for MAMDC4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAMDC4 Gene

Domains & Families for MAMDC4 Gene

Suggested Antigen Peptide Sequences for MAMDC4 Gene

Graphical View of Domain Structure for InterPro Entry

Q6UXC1

UniProtKB/Swiss-Prot:

AEGP_HUMAN :
  • Contains 3 LDL-receptor class A domains.
Domain:
  • Contains 3 LDL-receptor class A domains.
  • Contains 6 MAM domains.
genes like me logo Genes that share domains with MAMDC4: view

No data available for Gene Families for MAMDC4 Gene

Function for MAMDC4 Gene

Molecular function for MAMDC4 Gene

UniProtKB/Swiss-Prot Function:
Probably involved in the sorting and selective transport of receptors and ligands across polarized epithelia.
genes like me logo Genes that share phenotypes with MAMDC4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MAMDC4

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MAMDC4 Gene

Localization for MAMDC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAMDC4 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAMDC4 Gene COMPARTMENTS Subcellular localization image for MAMDC4 gene
Compartment Confidence
extracellular 3
nucleus 3
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for MAMDC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MAMDC4: view

Pathways & Interactions for MAMDC4 Gene

SuperPathways for MAMDC4 Gene

No Data Available

Interacting Proteins for MAMDC4 Gene

Selected Interacting proteins: Q6UXC1-AEGP_HUMAN for MAMDC4 Gene via IID

Symbol External ID(s) Details
CTSC

Gene Ontology (GO) - Biological Process for MAMDC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with MAMDC4: view

No data available for Pathways by source and SIGNOR curated interactions for MAMDC4 Gene

Drugs & Compounds for MAMDC4 Gene

No Compound Related Data Available

Transcripts for MAMDC4 Gene

mRNA/cDNA for MAMDC4 Gene

Unigene Clusters for MAMDC4 Gene

MAM domain containing 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAMDC4 Gene

No ASD Table

Relevant External Links for MAMDC4 Gene

GeneLoc Exon Structure for
MAMDC4
ECgene alternative splicing isoforms for
MAMDC4

Expression for MAMDC4 Gene

mRNA expression in normal human tissues for MAMDC4 Gene

mRNA differential expression in normal tissues according to GTEx for MAMDC4 Gene

This gene is overexpressed in Brain - Cerebellum (x5.6) and Pituitary (x4.1).

Protein differential expression in normal tissues from HIPED for MAMDC4 Gene

This gene is overexpressed in Fetal gut (65.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAMDC4 Gene



Protein tissue co-expression partners for MAMDC4 Gene

NURSA nuclear receptor signaling pathways regulating expression of MAMDC4 Gene:

MAMDC4

SOURCE GeneReport for Unigene cluster for MAMDC4 Gene:

Hs.376780
genes like me logo Genes that share expression patterns with MAMDC4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MAMDC4 Gene

Orthologs for MAMDC4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAMDC4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MAMDC4 34
  • 81.21 (n)
  • 76.95 (a)
MAMDC4 35
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAMDC4 34
  • 79.96 (n)
  • 76.48 (a)
MAMDC4 35
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mamdc4 34
  • 78.33 (n)
  • 73.35 (a)
Mamdc4 16
Mamdc4 35
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAMDC4 34
  • 97.69 (n)
  • 96.71 (a)
MAMDC4 35
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mamdc4 34
  • 76.58 (n)
  • 72.65 (a)
oppossum
(Monodelphis domestica)
Mammalia MAMDC4 35
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAMDC4 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAMDC4 34
  • 57.64 (n)
  • 47.11 (a)
MAMDC4 35
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 25 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mamdc4 34
  • 51.17 (n)
  • 39.37 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC797166 34
  • 47.57 (n)
  • 37.97 (a)
si:ch211-106h4.4 35
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToOne
Species where no ortholog for MAMDC4 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)
  • 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 MAMDC4 Gene

ENSEMBL:
Gene Tree for MAMDC4 (if available)
TreeFam:
Gene Tree for MAMDC4 (if available)

Paralogs for MAMDC4 Gene

Paralogs for MAMDC4 Gene

genes like me logo Genes that share paralogs with MAMDC4: view

Variants for MAMDC4 Gene

Sequence variations from dbSNP and Humsavar for MAMDC4 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs2275156 - 136,858,447(-) GGGCC(A/C/T)GGCCA reference, missense
rs755530502 A breast cancer sample 136,854,270(+) TGGAG(A/C)CCCAG reference, missense
rs138623341 A breast cancer sample 136,859,975(+) GGGGA(C/T)GGCGC reference, missense
rs7860064 -- 136,854,445(+) CTTCT(G/T)GGGGT intron-variant
rs7869864 -- 136,854,615(+) CACCG(A/C/T)GCTGG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for MAMDC4 Gene

Variant ID Type Subtype PubMed ID
esv2422220 CNV deletion 17116639
esv2672706 CNV deletion 23128226
esv2759720 CNV loss 17122850
esv29973 CNV loss 17803354
esv3622017 CNV gain 21293372
nsv469918 CNV loss 18288195
nsv524322 CNV loss 19592680
nsv615985 CNV loss 21841781
nsv818738 CNV gain 17921354
nsv8582 CNV gain 18304495
nsv951205 CNV deletion 24416366

Variation tolerance for MAMDC4 Gene

Residual Variation Intolerance Score: 99.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.19; 69.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAMDC4 Gene

Human Gene Mutation Database (HGMD)
MAMDC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAMDC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAMDC4 Gene

Disorders for MAMDC4 Gene

Relevant External Links for MAMDC4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAMDC4

No disorders were found for MAMDC4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAMDC4 Gene

Publications for MAMDC4 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 65
  2. Molecular characterization of an apical early endosomal glycoprotein from developing rat intestinal epithelial cells. (PMID: 7829488) Speelman B.A. … Wilson J.M. (J. Biol. Chem. 1995) 2 3 65
  3. Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis. (PMID: 25956157) O'Rielly D.D. … Rahman P. (Ann. Rheum. Dis. 2016) 3 65
  4. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 65
  5. The consensus coding sequences of human breast and colorectal cancers. (PMID: 16959974) Sjoeblom T. … Velculescu V.E. (Science 2006) 4 65

Products for MAMDC4 Gene

Sources for MAMDC4 Gene

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