MARVELD3 - MARVEL domain containing 3 Gene

Also Known as MARVD3; MRVLDC3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 91862

About MARVELD3

Cytogenetic location: 16q22.2 Genomic coordinates (GRCh38): 16:71,626,184-71,641,965 (from NCBI)

This gene has 5 transcripts (splice variants), 162 orthologues and 2 paralogues. Broad expression in small intestine (RPKM 6.8), colon (RPKM 6.5) and 18 other tissues.

Summary

Enables mitogen-activated protein kinase kinase kinase binding activity. Involved in bicellular tight junction assembly. Acts upstream of or within several processes, including negative regulation of JNK cascade; negative regulation of epithelial cell migration; and negative regulation of epithelial cell proliferation. Located in bicellular tight junction and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2022]

MARVELD3 Products (3)

mRNA Protein Name
NM_001017967.4 NP_001017967.2 MARVEL domain-containing protein 3 isoform 1
NM_001271329.2 NP_001258258.1 MARVEL domain-containing protein 3 isoform 3
NM_052858.6 NP_443090.4 MARVEL domain-containing protein 3 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables mitogen-activated protein kinase kinase kinase binding IDA
IDA: Inferred from direct assay
24567356 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20164257 GOA
Biological Process GO Annotation Evidence References Source
involved in bicellular tight junction assembly IMP
IMP: Inferred from mutant phenotype
20164257 GOA
acts upstream of or within cell-cell junction organization IMP
IMP: Inferred from mutant phenotype
20164257 GOA
acts upstream of or within negative regulation of JNK cascade IMP
IMP: Inferred from mutant phenotype
24567356 GOA
acts upstream of or within negative regulation of epithelial cell migration IMP
IMP: Inferred from mutant phenotype
24567356 GOA
acts upstream of or within negative regulation of epithelial cell proliferation IMP
IMP: Inferred from mutant phenotype
24567356 GOA
acts upstream of or within protein localization to cell junction IMP
IMP: Inferred from mutant phenotype
24567356 GOA
acts upstream of or within response to osmotic stress IMP
IMP: Inferred from mutant phenotype
24567356 GOA
Cellular Component GO Annotation Evidence References Source
located in bicellular tight junction IDA
IDA: Inferred from direct assay
20028514 GOA
located in cytoplasmic vesicle IDA
IDA: Inferred from direct assay
20164257 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

MARVEL domain-containing protein 3

  • MARVEL (membrane-associating) domain containing 3

Related Diseases

Diseases Alias
Pseudo-Torch Syndrome 1

  • Pseudo-Torch Syndrome

  • Band-Like Calcification With Simplified Gyration And Polymicrogyria

  • Blcpmg

  • PTORCH1

  • Baraitser-Brett-Piesowicz Syndrome

  • Baraitser-Reardon Syndrome

  • Bilateral Band-Like Calcification With Polymicrogyria

  • Blc-Pmg

  • Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome

  • Congenital Intrauterine Infection-Like Syndrome

  • Baraitser Brett Piesowicz Syndrome

  • Microcephaly - Intracranial Calcification - Intellectual Disability
Deafness, Autosomal Recessive 49

  • DFNB49

  • Autosomal Recessive Nonsyndromic Deafness 49

  • Autosomal Recessive Deafness 49

  • Deafness, Autosomal Recessive, 49

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49

  • Deafness, Autosomal Recessive, Type 49
Malaria

  • Malaria, Susceptibility To

  • Malaria, Resistance To

  • Malaria, Cerebral

  • Cerebral Malaria

  • Malaria, Severe, Susceptibility To

  • Malaria, Severe, Resistance To

  • Malaria, Cerebral, Susceptibility To

  • Induced Malaria

  • Malaria, Vivax, Protection Against

  • Malaria, Severe

  • Malaria, Cerebral, Reduced Risk Of

  • Malaria, Protection Against

  • Resistance To Malaria Due To G6pd Deficiency

  • Malaria Due To G6pd Deficiency

  • Malarial Encephalitis

  • CM

  • Malaria Cerebral

  • Susceptibility To Malaria

  • Acute Pernicious Fever

  • Aestivo-Autumnal Fever

  • Aestivo Autumnal Malaria

  • Chagres Fever

  • Continued Malaria Fever

  • Estivo-Autumnal Fever

  • Estivo-Autumnal Malaria

  • Estivo-Autumnal Malarial Fever

  • Falciparum Fever

  • Malignant Tertian Fever

  • Malignant Tertian Malaria

  • Pernicious Intermittent Fever

  • Pernicious Malaria

  • Quotidian Malaria

  • Subtertian Fever

  • Subtertian Malaria Fever

  • Subtertian Malignant Tertian Malaria

  • Tropical Malaria

  • Algid Malaria

  • Bilious Haemoglobinuric Fever

  • Black Water Fever

  • Blackwater Fever

  • Malarial Blackwater Fever

  • Severe Malarial Falciparum

  • West African Fever

  • Malarial Haematinuria

  • Haemoglobinuric Fever

  • Haemoglobinuric Malaria

  • Severe Plasmodium Falciparum Malaria

  • Malarial Haemoglobinuria

  • Malarial Haematuria

  • Falciparum Malaria [Malignant Tertian]

  • Malaria Tropica

  • Malarial Shock

  • Chagres Virus Disease

  • Malignant Malaria

  • Mtm - [Malignant Tertian Malaria]

  • Tm -[Malignant Tertian Malaria]

  • Panama Fever

  • St - [Subtertian Malaria]

  • Malarial Quotidian

  • Benign Tertian Malaria

  • Tertian Ague

  • Vivax Fever

  • Plasmodium Vivax Malaria Nos

  • Btm - [Benign Tertian Malaria]

  • Bt - [Benign Tertian Malaria]

  • Vivax Malaria

  • Benign Tertian Vivax Malaria

  • Tertian Malaria

  • Quartan Malaria

  • Quartan Ague

  • Quartan Fever

  • Plasmodium Malariae Malaria Nos

  • Quartan Malarial

  • Malaria By Plasmodium Malariae

  • Malariae Malaria

  • Ovale Tertian Malaria

  • Plasmodium Ovale Fever

  • Malaria Fever By Plasmodium Ovale

  • Ovale Malaria

  • Malaria By Plasmodium Ovale

  • Malarial Ovale

  • Marsh Fever

  • Remittent Congestive Fever

  • Coastal Fever

  • Remittent Gastric Fever

  • Miasmatic Fever

  • Congestive Remittent Fever

  • Intermittent Fever

  • Jungle Fever

  • Paludism

  • Cameroon Fever

  • Ague

  • Corsican Fever

  • Intermittent Bilious Fever

  • Disease Due To Plasmodiidae

  • Malarial Fever

  • Plasmodiosis

  • Remittent Fever

  • Roman Fever

  • Malaria Fever Nos

  • Malaria Nos

  • Paludal Fever

  • Clinically Diagnosed Malaria

  • Clinically Diagnosed Malaria Without Parasitological Confirmation

  • Congestive Fever

  • Malarial Cachexia

  • Marsh Cachexia

  • Paludal Cachexia

  • Recurrent Malaria

  • Remittent Malaria
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08156 MARVELD3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus MARVELD3 VGNC VGNC:52204
Macaca mulatta MARVELD3 VGNC VGNC:104738
Mus musculus MARVELD3 MGD MGI:1920858
Canis familiaris MARVELD3 VGNC VGNC:53422
Rattus norvegicus MARVELD3 RGD RGD:1562056