Aliases for MARVELD3 Gene

Aliases for MARVELD3 Gene

  • MARVEL Domain Containing 3 2 3 5
  • MARVEL (Membrane-Associating) Domain Containing 3 2 3
  • MARVEL Domain-Containing Protein 3 3 4
  • MRVLDC3 3 4
  • MARVELD3 5
  • MARVD3 3

External Ids for MARVELD3 Gene

Previous HGNC Symbols for MARVELD3 Gene

  • MRVLDC3

Previous GeneCards Identifiers for MARVELD3 Gene

  • GC16P070217
  • GC16P071661
  • GC16P057428

Summaries for MARVELD3 Gene

GeneCards Summary for MARVELD3 Gene

MARVELD3 (MARVEL Domain Containing 3) is a Protein Coding gene. Diseases associated with MARVELD3 include Pseudo-Torch Syndrome 1 and Deafness, Autosomal Recessive 49. Among its related pathways are Tight junction. Gene Ontology (GO) annotations related to this gene include mitogen-activated protein kinase kinase kinase binding. An important paralog of this gene is CACTIN.

UniProtKB/Swiss-Prot Summary for MARVELD3 Gene

  • As a component of tight junctions, plays a role in paracellular ion conductivity.

Additional gene information for MARVELD3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MARVELD3 Gene

Genomics for MARVELD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MARVELD3 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 MARVELD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MARVELD3

Top Transcription factor binding sites by QIAGEN in the MARVELD3 gene promoter:
  • Cdc5
  • E47
  • HNF-1
  • HNF-1A
  • MRF-2
  • p53
  • POU2F1
  • POU2F1a
  • USF-1
  • USF1

Genomic Locations for MARVELD3 Gene

Genomic Locations for MARVELD3 Gene
chr16:71,626,161-71,642,114
(GRCh38/hg38)
Size:
15,954 bases
Orientation:
Plus strand
chr16:71,660,064-71,676,017
(GRCh37/hg19)
Size:
15,954 bases
Orientation:
Plus strand

Genomic View for MARVELD3 Gene

Genes around MARVELD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARVELD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARVELD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MARVELD3 Gene

Proteins for MARVELD3 Gene

  • Protein details for MARVELD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96A59-MALD3_HUMAN
    Recommended name:
    MARVEL domain-containing protein 3
    Protein Accession:
    Q96A59
    Secondary Accessions:
    • A8K820
    • H3BQM5
    • Q96MJ4

    Protein attributes for MARVELD3 Gene

    Size:
    401 amino acids
    Molecular mass:
    44911 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MARVELD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MARVELD3 Gene

Post-translational modifications for MARVELD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MARVELD3 Gene

No data available for DME Specific Peptides for MARVELD3 Gene

Domains & Families for MARVELD3 Gene

Gene Families for MARVELD3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for MARVELD3 Gene

InterPro:
Blocks:
  • Marvel
ProtoNet:

Suggested Antigen Peptide Sequences for MARVELD3 Gene

GenScript: Design optimal peptide antigens:
  • MARVEL domain-containing protein 3 (MALD3_HUMAN)
  • MARVELD3 protein (Q9BSH2_HUMAN)
genes like me logo Genes that share domains with MARVELD3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MARVELD3 Gene

Function for MARVELD3 Gene

Molecular function for MARVELD3 Gene

UniProtKB/Swiss-Prot Function:
As a component of tight junctions, plays a role in paracellular ion conductivity.

Phenotypes From GWAS Catalog for MARVELD3 Gene

Gene Ontology (GO) - Molecular Function for MARVELD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20164257
GO:0031435 mitogen-activated protein kinase kinase kinase binding IDA 24567356
genes like me logo Genes that share ontologies with MARVELD3: view
genes like me logo Genes that share phenotypes with MARVELD3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MARVELD3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MARVELD3 Gene

Localization for MARVELD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARVELD3 Gene

Membrane. Multi-pass membrane protein. Cell junction, tight junction.

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 MARVELD3 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 3
nucleus 2
extracellular 1
mitochondrion 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MARVELD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005923 bicellular tight junction IDA 20028514
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with MARVELD3: view

Pathways & Interactions for MARVELD3 Gene

PathCards logo

SuperPathways for MARVELD3 Gene

SuperPathway Contained pathways
1 Tight junction
genes like me logo Genes that share pathways with MARVELD3: view

Pathways by source for MARVELD3 Gene

1 KEGG pathway for MARVELD3 Gene

Interacting Proteins for MARVELD3 Gene

Gene Ontology (GO) - Biological Process for MARVELD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006970 response to osmotic stress IMP 24567356
GO:0010633 negative regulation of epithelial cell migration IMP 24567356
GO:0045216 cell-cell junction organization IMP 20164257
GO:0046329 negative regulation of JNK cascade IMP 24567356
GO:0050680 negative regulation of epithelial cell proliferation IMP 24567356
genes like me logo Genes that share ontologies with MARVELD3: view

No data available for SIGNOR curated interactions for MARVELD3 Gene

Drugs & Compounds for MARVELD3 Gene

No Compound Related Data Available

Transcripts for MARVELD3 Gene

mRNA/cDNA for MARVELD3 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MARVELD3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MARVELD3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6
SP1: - - -
SP2: - - - - -
SP3: - -
SP4: -
SP5: -

Relevant External Links for MARVELD3 Gene

GeneLoc Exon Structure for
MARVELD3

Expression for MARVELD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MARVELD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MARVELD3 Gene

This gene is overexpressed in Colon - Transverse (x12.5), Small Intestine - Terminal Ileum (x7.3), Pancreas (x7.1), Kidney - Cortex (x4.4), and Minor Salivary Gland (x4.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MARVELD3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MARVELD3

SOURCE GeneReport for Unigene cluster for MARVELD3 Gene:

Hs.513706

Evidence on tissue expression from TISSUES for MARVELD3 Gene

  • Lung(4.3)
  • Kidney(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with MARVELD3: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MARVELD3 Gene

Orthologs for MARVELD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MARVELD3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MARVELD3 31
  • 88 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MARVELD3 30 31
  • 79.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Marveld3 30 17 31
  • 77.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MARVELD3 31
  • 75 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MARVELD3 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MARVELD3 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MARVELD3 31
  • 27 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MARVELD3 31
  • 33 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.10038 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.7140 30
Zebrafish
(Danio rerio)
Actinopterygii marveld3 30
  • 53.84 (n)
MARVELD3 31
  • 34 (a)
OneToOne
-- 30
Species where no ortholog for MARVELD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 MARVELD3 Gene

ENSEMBL:
Gene Tree for MARVELD3 (if available)
TreeFam:
Gene Tree for MARVELD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MARVELD3: view image

Paralogs for MARVELD3 Gene

Paralogs for MARVELD3 Gene

genes like me logo Genes that share paralogs with MARVELD3: view

Variants for MARVELD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MARVELD3 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs4788821 - p.Glu60Lys

Additional dbSNP identifiers (rs#s) for MARVELD3 Gene

Structural Variations from Database of Genomic Variants (DGV) for MARVELD3 Gene

Variant ID Type Subtype PubMed ID
esv2116823 CNV deletion 18987734
esv2597921 CNV deletion 19546169
esv3638975 CNV loss 21293372
nsv1063338 CNV gain 25217958
nsv7285 OTHER inversion 18451855
nsv962218 CNV duplication 23825009

Variation tolerance for MARVELD3 Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.54; 92.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MARVELD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARVELD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MARVELD3 Gene

Disorders for MARVELD3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MARVELD3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pseudo-torch syndrome 1
  • ptorch1
deafness, autosomal recessive 49
  • dfnb49
omsk hemorrhagic fever
  • ohf
miyoshi muscular dystrophy 3
  • mmd3
malaria
  • malaria, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with MARVELD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MARVELD3 Gene

Publications for MARVELD3 Gene

  1. Identification of MarvelD3 as a tight junction-associated transmembrane protein of the occludin family. (PMID: 20028514) Steed E … Matter K (BMC cell biology 2009) 3 4
  2. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. MarvelD3 couples tight junctions to the MEKK1-JNK pathway to regulate cell behavior and survival. (PMID: 24567356) Steed E … Matter K (The Journal of cell biology 2014) 3

Products for MARVELD3 Gene

Sources for MARVELD3 Gene