MARCHF2 Gene (Protein Coding)

Membrane Associated Ring-CH-Type Finger 2

GC19P008414
GIFtS:
28
MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TG... See more...

Aliases for MARCHF2 Gene

Aliases for MARCHF2 Gene

  • Membrane Associated Ring-CH-Type Finger 2 2 3 5
  • Membrane-Associated Ring Finger (C3HC4) 2, E3 Ubiquitin Protein Ligase 2 3
  • Membrane-Associated RING Finger Protein 2 3 4
  • RING-Type E3 Ubiquitin Transferase MARCH2 3 4
  • Membrane-Associated RING-CH Protein II 3 4
  • E3 Ubiquitin-Protein Ligase MARCH2 3 4
  • RING Finger Protein 172 3 4
  • MARCH-II 3 4
  • MARCH2 3 5
  • RNF172 3 4
  • Membrane-Associated Ring Finger (C3HC4) 2 2
  • Membrane Associated Ring Finger 2 3
  • EC 2.3.2.27 4
  • EC 6.3.2 52
  • HSPC240 3

External Ids for MARCHF2 Gene

Previous HGNC Symbols for MARCHF2 Gene

  • MARCH2

Summaries for MARCHF2 Gene

Entrez Gene Summary for MARCHF2 Gene

  • MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010]

GeneCards Summary for MARCHF2 Gene

MARCHF2 (Membrane Associated Ring-CH-Type Finger 2) is a Protein Coding gene. Diseases associated with MARCHF2 include Rubeosis Iridis and Cholesterol Embolism. An important paralog of this gene is MARCHF3.

UniProtKB/Swiss-Prot Summary for MARCHF2 Gene

  • E3 ubiquitin-protein ligase that may mediate ubiquitination of TFRC and CD86, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May be involved in endosomal trafficking through interaction with STX6.

Gene Wiki entry for MARCHF2 Gene

Additional gene information for MARCHF2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MARCHF2 Gene

Genomics for MARCHF2 Gene

GeneHancer (GH) Regulatory Elements for MARCHF2 Gene

Promoters and enhancers for MARCHF2 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
GH19J008413 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 515.4 +0.3 331 1.6 HNRNPK EP300 CTCF NRF1 POLR2G SP1 FOS ZIC2 POLR2A ZBTB26 MARCHF2 ELAVL1 HNRNPM ZNF558 ZNF699 piR-50437-331 lnc-KANK3-3
GH19J008417 Promoter/Enhancer 1.3 EPDnew ENCODE 528.1 +5.1 5078 1.4 NRF1 PHB2 ZBTB5 ZBTB11 AFF1 TARDBP REST DNMT1 HES1 TOE1 MARCHF2 piR-50437-331 lnc-PRAM1-4 lnc-KANK3-3
GH19J008410 Enhancer 0.6 Ensembl 509 -1.8 -1769 1.4 SKI RBM25 JUND ZBTB40 FOSL2 ADNP CHD4 ZNF3 ZNF664 KDM1A MARCHF2 RAB11B-AS1 lnc-KANK3-3
GH19J008444 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 32.3 +32.7 32700 4.3 FOXK2 ZBTB40 EP300 NRF1 USF1 POLR2G SP1 GTF2E2 PHF8 ZFX HNRNPM ENSG00000279827 lnc-PRAM1-2-001 lnc-PRAM1-2-002 MARCHF2 ZNF266 XAB2 ZNF699 ZNF558 ELAVL1
GH19J008469 Enhancer 1.1 Ensembl ENCODE dbSUPER 38.5 +59.6 59628 6.2 SP1 EP300 TRIM22 BCL11A TCF12 CBFB MAFF ZNF263 MAFK RBM22 lnc-KANK3-3 MARCHF2 PRAM1 piR-43107-136 HNRNPM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MARCHF2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MARCHF2

Genomic Locations for MARCHF2 Gene

Genomic Locations for MARCHF2 Gene
chr19:8,413,270-8,439,017
(GRCh38/hg38)
Size:
25,748 bases
Orientation:
Plus strand
chr19:8,478,154-8,503,901
(GRCh37/hg19)
Size:
25,748 bases
Orientation:
Plus strand

Genomic View for MARCHF2 Gene

Genes around MARCHF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARCHF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARCHF2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MARCHF2 Gene

Proteins for MARCHF2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MARCHF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0N8-MARH2_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase MARCH2
    Protein Accession:
    Q9P0N8
    Secondary Accessions:
    • A6NP10
    • Q5H785
    • Q8N5A3
    • Q96B78

    Protein attributes for MARCHF2 Gene

    Size:
    246 amino acids
    Molecular mass:
    26995 Da
    Quaternary structure:
    • Interacts with STX6 (By similarity). Interacts with MARCH3.

    Alternative splice isoforms for MARCHF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MARCHF2 Gene

Selected DME Specific Peptides for MARCHF2 Gene

Q9P0N8:
  • WTLVSFRYHC
  • DGRLLSTVI
  • WLSSSNTSYCELCH
  • VCFLFITPLA
  • ISGWLCLRGA
  • CCHLPGSLCDC
  • GTLGAVHKSCLE
  • TEWLKDPGPR
  • RPRPLTEWL
  • CRICHEG
  • LEAVGLIALT

Post-translational modifications for MARCHF2 Gene

No Post-translational modifications

Other Protein References for MARCHF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MARCHF2 Gene

Gene Families for MARCHF2 Gene

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

Protein Domains for MARCHF2 Gene

Blocks:
  • Zn-finger, RING
  • RINGv
InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9P0N8

UniProtKB/Swiss-Prot:

MARH2_HUMAN :
  • The RING-CH-type zinc finger domain is required for E3 ligase activity.
Domain:
  • The RING-CH-type zinc finger domain is required for E3 ligase activity.
genes like me logo Genes that share domains with MARCHF2: view

No data available for Suggested Antigen Peptide Sequences for MARCHF2 Gene

Function for MARCHF2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MARCHF2 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that may mediate ubiquitination of TFRC and CD86, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May be involved in endosomal trafficking through interaction with STX6.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.

Enzyme Numbers (IUBMB) for MARCHF2 Gene

Phenotypes From GWAS Catalog for MARCHF2 Gene

Gene Ontology (GO) - Molecular Function for MARCHF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 14722266
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MARCHF2: view
genes like me logo Genes that share phenotypes with MARCHF2: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MARCHF2 Gene

Localization for MARCHF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARCHF2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass 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 MARCHF2 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
endosome 4
lysosome 4
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MARCHF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 14722266
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with MARCHF2: view

Pathways & Interactions for MARCHF2 Gene

PathCards logo

SuperPathways for MARCHF2 Gene

No Data Available

UniProtKB/Swiss-Prot Q9P0N8-MARH2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for MARCHF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0016567 protein ubiquitination IEA,IBA --
genes like me logo Genes that share ontologies with MARCHF2: view

No data available for Pathways by source and SIGNOR curated interactions for MARCHF2 Gene

Drugs & Compounds for MARCHF2 Gene

Products:

  1. Drug

(3) Drugs for MARCHF2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for MARCHF2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
 14000-31-8
genes like me logo Genes that share compounds with MARCHF2: view

Transcripts for MARCHF2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MARCHF2 Gene

7 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MARCHF2 Gene

No ASD Table

Relevant External Links for MARCHF2 Gene

GeneLoc Exon Structure for
MARCHF2

Expression for MARCHF2 Gene

Products:

  1. Primer

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MARCHF2

SOURCE GeneReport for Unigene cluster for MARCHF2 Gene:

Hs.631861

mRNA Expression by UniProt/SwissProt for MARCHF2 Gene:

Q9P0N8-MARH2_HUMAN
Tissue specificity: Broadly expressed.

Evidence on tissue expression from TISSUES for MARCHF2 Gene

  • Nervous system(4.3)
  • Skin(4.2)
  • Blood(4.1)
  • Muscle(2)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MARCHF2 Gene

Orthologs for MARCHF2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MARCHF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MARCH2 31
  • 100 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia MARCH2 31 30
  • 90.24 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MARCH2 31 30
  • 89.39 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia March2 30
  • 86.04 (n)
mouse
(Mus musculus)
 Mammalia March2 31 30
  • 84.69 (n)
 OneToOne
Marchf2 17
oppossum
(Monodelphis domestica)
 Mammalia MARCH2 31
  • 81 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MARCH2 31
  • 64 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MARCH2 31 30
  • 76.15 (n)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia march2 30
  • 69.92 (n)
zebrafish
(Danio rerio)
 Actinopterygii march2 31 30
  • 74.8 (n)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4783 30
fruit fly
(Drosophila melanogaster)
 Insecta CG13442 31
  • 13 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea marc-3 31
  • 14 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SSM4 31
  • 4 (a)
 OneToMany
Species where no ortholog for MARCHF2 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)

Evolution for MARCHF2 Gene

ENSEMBL:
Gene Tree for MARCHF2 (if available)
TreeFam:
Gene Tree for MARCHF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MARCHF2: view image

Paralogs for MARCHF2 Gene

Paralogs for MARCHF2 Gene

genes like me logo Genes that share paralogs with MARCHF2: view

Variants for MARCHF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MARCHF2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs1133893 - p.Ala54Thr
rs34099346 - p.Arg219Pro

Additional dbSNP identifiers (rs#s) for MARCHF2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MARCHF2 Gene

Variant ID Type Subtype PubMed ID
nsv513514 CNV insertion 21212237

Variation tolerance for MARCHF2 Gene

Residual Variation Intolerance Score: 35.7% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MARCHF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARCHF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MARCHF2 Gene

Disorders for MARCHF2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MARCHF2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
rubeosis iridis
cholesterol embolism
  • atheroembolism
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with MARCHF2: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for MARCHF2 Gene

Publications for MARCHF2 Gene

  1. Downregulation of major histocompatibility complex class I by human ubiquitin ligases related to viral immune evasion proteins. (PMID: 14722266) Bartee E … Früh K (Journal of virology 2004) 2 3 4 54
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 54
  3. MARCH-III Is a novel component of endosomes with properties similar to those of MARCH-II. (PMID: 16428329) Fukuda H … Hirose S (Journal of biochemistry 2006) 3 4 54
  4. MARCH-II is a syntaxin-6-binding protein involved in endosomal trafficking. (PMID: 15689499) Nakamura N … Hirose S (Molecular biology of the cell 2005) 3 4 54
  5. 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 54

ExternalLinks

View latest publications for MARCHF2 gene in Mastermind

Products for MARCHF2 Gene

Sources for MARCHF2 Gene