Human Gene MARCH2 (uc002mjv.3) Description and Page Index
  Description: Homo sapiens membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase (MARCH2), transcript variant 1, mRNA.
RefSeq Summary (NM_016496): 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].
Transcript (Including UTRs)
   Position: hg19 chr19:8,478,187-8,503,899 Size: 25,713 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr19:8,486,725-8,503,430 Size: 16,706 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:8,478,187-8,503,899)mRNA (may differ from genome)Protein (246 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MARH2_HUMAN
DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase MARCH2; EC=6.3.2.-; AltName: Full=Membrane-associated RING finger protein 2; AltName: Full=Membrane-associated RING-CH protein II; Short=MARCH-II; AltName: Full=RING finger protein 172;
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.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Interacts with STX6 (By similarity). Interacts with MARCH3.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein (By similarity).
TISSUE SPECIFICITY: Broadly expressed.
DOMAIN: The RING-CH-type zinc finger domain is required for E3 ligase activity.
SIMILARITY: Contains 1 RING-CH-type zinc finger.

-  MalaCards Disease Associations
  MalaCards Gene Search: MARCH2
Diseases sorted by gene-association score: rubeosis iridis (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 40.70 RPKM in Colon - Sigmoid
Total median expression: 1050.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -206.83441-0.469 Picture PostScript Text
3' UTR -163.40469-0.348 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011016 - Znf_RING-CH
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF12906 - RING-variant domain

SCOP Domains:
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on Q9P0N8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006897 endocytosis
GO:0016567 protein ubiquitination

Cellular Component:
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031410 cytoplasmic vesicle


-  Descriptions from all associated GenBank mRNAs
  AF151074 - Homo sapiens HSPC240 mRNA, complete cds.
BC032624 - Homo sapiens membrane-associated ring finger (C3HC4) 2, mRNA (cDNA clone MGC:45099 IMAGE:5241282), complete cds.
JD174609 - Sequence 155633 from Patent EP1572962.
JD204856 - Sequence 185880 from Patent EP1572962.
JD454178 - Sequence 435202 from Patent EP1572962.
JD084901 - Sequence 65925 from Patent EP1572962.
JD508626 - Sequence 489650 from Patent EP1572962.
JD337500 - Sequence 318524 from Patent EP1572962.
JD198223 - Sequence 179247 from Patent EP1572962.
JD411239 - Sequence 392263 from Patent EP1572962.
JD197636 - Sequence 178660 from Patent EP1572962.
AK130163 - Homo sapiens cDNA FLJ26653 fis, clone MPE06624.
JD287670 - Sequence 268694 from Patent EP1572962.
JD248202 - Sequence 229226 from Patent EP1572962.
BC111388 - Homo sapiens membrane-associated ring finger (C3HC4) 2, mRNA (cDNA clone MGC:102690 IMAGE:5242152), complete cds.
JD349363 - Sequence 330387 from Patent EP1572962.
JD311501 - Sequence 292525 from Patent EP1572962.
JD560661 - Sequence 541685 from Patent EP1572962.
JD539857 - Sequence 520881 from Patent EP1572962.
JD414695 - Sequence 395719 from Patent EP1572962.
JD120467 - Sequence 101491 from Patent EP1572962.
JD478967 - Sequence 459991 from Patent EP1572962.
AB197929 - Homo sapiens MARCH-II mRNA for membrane-associated RING-CH family member 2, complete cds.
JD216986 - Sequence 198010 from Patent EP1572962.
JD083867 - Sequence 64891 from Patent EP1572962.
KJ893864 - Synthetic construct Homo sapiens clone ccsbBroadEn_03258 MARCH2 gene, encodes complete protein.
BC015910 - Homo sapiens membrane-associated ring finger (C3HC4) 2, mRNA (cDNA clone IMAGE:4640357), partial cds.
DQ582066 - Homo sapiens piRNA piR-32178, complete sequence.
JD465229 - Sequence 446253 from Patent EP1572962.
JD156127 - Sequence 137151 from Patent EP1572962.
JD370349 - Sequence 351373 from Patent EP1572962.
JD208892 - Sequence 189916 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NP10, HSPC240, MARH2_HUMAN, NM_016496, NP_057580, Q5H785, Q8N5A3, Q96B78, Q9P0N8, RNF172
UCSC ID: uc002mjv.3
RefSeq Accession: NM_016496
Protein: Q9P0N8 (aka MARH2_HUMAN)
CCDS: CCDS12202.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_016496.4
exon count: 6CDS single in 3' UTR: no RNA size: 1705
ORF size: 741CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1450.00frame shift in genome: no % Coverage: 96.83
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.