Free for academic non-profit institutions. Other users need a Commercial license

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.

Additional gene information for MAMDC4 Gene

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

Genomics for MAMDC4 Gene

GeneHancer (GH) Regulatory Elements for MAMDC4 Gene

Promoters and enhancers for MAMDC4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I136846 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +3.8 3832 16 HDGF PKNOX1 CLOCK ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B YY1 PHPT1 MAMDC4 EHMT1 SDCCAG3 LOC651337 ANAPC2 DPH7 LCN12 DPP7 EDF1
GH09I136884 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.4 +35.3 35332 3.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZBTB7B POLR2B E2F8 ZNF207 LOC105376326 MIR4479 TRAF2 EHMT1 SDCCAG3 ANAPC2 PHPT1 SNHG7 LOC651337 MAMDC4
GH09I136881 Enhancer 1.4 Ensembl ENCODE dbSUPER 12.5 +31.7 31719 2.7 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS TRAF2 PHPT1 MAMDC4 AJM1 TMEM141 LCN12 PRR31 C8G FBXW5 RABL6
GH09I136925 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.8 +76.3 76308 3.5 HDAC1 HDGF CTCF PKNOX1 ESRRA RAD21 FOSL1 ZFHX2 ZNF316 POLR2A PIR56768 PIR33871 LCN12 TRAF2 CCDC183 PRR31 MAMDC4 PHPT1 AJM1 RABL6
GH09I136822 Promoter/Enhancer 0.8 Ensembl ENCODE 12.2 -29.4 -29442 0.2 RING1 DPH7 INPP5E ARRDC1-AS1 EXD3 CCDC183 AJM1 PHPT1 MAMDC4 SNAPC4 LCN12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MAMDC4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAMDC4 gene promoter:

Genomic Locations for MAMDC4 Gene

Genomic Locations for MAMDC4 Gene
chr9:136,850,943-136,860,799
(GRCh38/hg38)
Size:
9,857 bases
Orientation:
Plus strand
chr9:139,745,395-139,755,251
(GRCh37/hg19)

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 isoforms=2, 3203, posLast=281281, posLast=339339, isoforms=3583, isoforms=3636, and isoforms=2, 3835

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

Gene Families for MAMDC4 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for MAMDC4 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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

Clone Products

No data available for 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 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
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 MAMDC4 gene
Compartment Confidence
plasma membrane 3
extracellular 3
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAMDC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
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

Unigene Clusters for MAMDC4 Gene

MAM domain containing 4:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 97.69 (n)
cow
(Bos Taurus)
Mammalia MAMDC4 33 34
  • 81.21 (n)
dog
(Canis familiaris)
Mammalia MAMDC4 33 34
  • 79.96 (n)
mouse
(Mus musculus)
Mammalia Mamdc4 33 16 34
  • 78.33 (n)
rat
(Rattus norvegicus)
Mammalia Mamdc4 33
  • 76.58 (n)
oppossum
(Monodelphis domestica)
Mammalia MAMDC4 34
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAMDC4 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAMDC4 33 34
  • 57.64 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 25 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mamdc4 33
  • 51.17 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC797166 33
  • 47.57 (n)
si:ch211-106h4.4 34
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs138623341 A breast cancer sample 136,859,975(+) C/T coding_sequence_variant, missense_variant
rs755530502 A breast cancer sample 136,854,270(+) C/A coding_sequence_variant, missense_variant
rs1000582189 -- 136,856,604(+) T/C intron_variant
rs1001219862 -- 136,852,946(+) G/A intron_variant
rs1001545789 -- 136,860,552(+) C/T intron_variant

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

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

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)

Additional Variant Information 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

Additional Disease Information for 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 HF … Gray A (Genome research 2003) 3 4 58
  2. Molecular characterization of an apical early endosomal glycoprotein from developing rat intestinal epithelial cells. (PMID: 7829488) Speelman BA … Wilson JM (The Journal of biological chemistry 1995) 2 3 58
  3. Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis. (PMID: 25956157) O'Rielly DD … Rahman P (Annals of the rheumatic diseases 2016) 3 58
  4. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 58
  5. The consensus coding sequences of human breast and colorectal cancers. (PMID: 16959974) Sjöblom T … Velculescu VE (Science (New York, N.Y.) 2006) 4 58

Products for MAMDC4 Gene

Sources for MAMDC4 Gene

Content
Loading form....