Gene: MARCHF4

Alternate names for this Gene: MARCH-IV|MARCH4|RNF174

Gene Summary: MARCH4 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. MARCH4 reduces surface accumulation of several membrane glycoproteins by directing them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]. ##Evidence-Data-START## Transcript exon combination :: BC098448.1, AB037820.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000273067.5/ ENSP00000273067.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: membrane associated ring-CH-type finger 4

Type of Gene: protein-coding

rs10490364 in MARCHF4 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs6756590 in MARCHF4 gene and Malignant Neoplasms PMID 29299148 2017 Cancer risk susceptibility loci in a Swedish population.

rs6756590 in MARCHF4 gene and Migraine Disorders PMID 22683712 2012 Genome-wide association analysis identifies susceptibility loci for migraine without aura.