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Aliases for MAMDC4 Gene

Aliases for MAMDC4 Gene

  • MAM Domain Containing 4 2 3
  • 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MAMDC4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for MAMDC4 Gene at MOPED

Post-translational modifications for MAMDC4 Gene

  • Glycosylation at Asn203, Asn281, Asn339, Asn583, Asn636, and Asn835
  • 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 for MAMDC4 Gene

Suggested Antigen Peptide Sequences for MAMDC4 Gene

Graphical View of Domain Structure for InterPro Entry

Q6UXC1

UniProtKB/Swiss-Prot:

AEGP_HUMAN :
  • Q6UXC1
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.

Gene Ontology (GO) - Molecular Function for MAMDC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with MAMDC4: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MAMDC4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
plasma membrane 3
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MAMDC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MAMDC4: view

Pathways for MAMDC4 Gene

SuperPathways for MAMDC4 Gene

No Data Available

Interacting Proteins for MAMDC4 Gene

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 for MAMDC4 Gene

Transcripts for MAMDC4 Gene

mRNA/cDNA for MAMDC4 Gene

Unigene Clusters for MAMDC4 Gene

MAM domain containing 4:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MAMDC4

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MAMDC4

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 (5.6) and Pituitary (4.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for MAMDC4 Gene

SOURCE GeneReport for Unigene cluster for MAMDC4 Gene Hs.376780

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

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia MAMDC4 35
  • 97.69 (n)
  • 96.71 (a)
MAMDC4 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAMDC4 35
  • 81.21 (n)
  • 76.95 (a)
MAMDC4 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAMDC4 35
  • 79.96 (n)
  • 76.48 (a)
MAMDC4 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mamdc4 35
  • 78.33 (n)
  • 73.35 (a)
Mamdc4 16
Mamdc4 36
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAMDC4 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAMDC4 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mamdc4 35
  • 76.58 (n)
  • 72.65 (a)
chicken
(Gallus gallus)
Aves MAMDC4 35
  • 57.64 (n)
  • 47.11 (a)
MAMDC4 36
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 25 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mamdc4 35
  • 51.17 (n)
  • 39.37 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC797166 35
  • 47.57 (n)
  • 37.97 (a)
si:ch211-106h4.4 36
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToOne
Species with no ortholog for MAMDC4:
  • 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 MAF
rs1806500 -- 136,860,365(+) AACTA(C/G)AAAAA intron-variant
rs1806915 -- 136,860,386(+) TATGG(G/T)GGCAG intron-variant
rs1815523 -- 136,860,354(-) TTAGT(A/T)GAGAC intron-variant
rs2236544 -- 136,859,658(-) TTTCC(C/T)TCACC intron-variant
rs2275156 - 136,858,447(-) GGGCC(A/C)GGCCA missense, reference

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

Variant ID Type Subtype PubMed ID
dgv2426e1 CNV Complex 17122850
nsv469918 CNV Loss 18288195
nsv894387 CNV Gain 21882294
dgv2427e1 CNV Complex 17122850
esv2422220 CNV Deletion 17116639
dgv8408n71 CNV Loss 21882294
dgv8412n71 CNV Loss 21882294
dgv8414n71 CNV Loss 21882294
dgv8415n71 CNV Loss 21882294
dgv8416n71 CNV Loss 21882294
nsv818738 CNV Gain 17921354
dgv8417n71 CNV Loss 21882294
dgv8418n71 CNV Loss 21882294
dgv8419n71 CNV Loss 21882294
esv29973 CNV Loss 17803354
nsv524322 CNV Loss 19592680
nsv894469 CNV Loss 21882294
dgv8420n71 CNV Loss 21882294
nsv894483 CNV Loss 21882294
nsv894488 CNV Loss 21882294
nsv894489 CNV Loss 21882294
dgv8421n71 CNV Loss 21882294
nsv894491 CNV Loss 21882294
nsv8582 CNV Gain 18304495
esv2672706 CNV Deletion 23128226

Relevant External Links for MAMDC4 Gene

HapMap Linkage Disequilibrium report
MAMDC4
Human Gene Mutation Database (HGMD)
MAMDC4

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

Disorders for MAMDC4 Gene

No disorders were found for MAMDC4 Gene.

No data available for UniProtKB/Swiss-Prot 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
  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
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 4
  5. The consensus coding sequences of human breast and colorectal cancers. (PMID: 16959974) Sjoeblom T. … Velculescu V.E. (Science 2006) 4

Products for MAMDC4 Gene

Sources for MAMDC4 Gene

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