Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	51257
Gene name	Membrane associated ring-CH-type finger 2
Gene symbol	MARCHF2
Synonyms (NCBI Gene)	HSPC240MARCH-IIMARCH2RNF172
Chromosome	19
Chromosome location	19p13.2
Summary	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. M

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	23818989
GO:0000139	Component	Golgi membrane	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA
GO:0005515	Function	Protein binding	IPI	17980554, 23166351, 23818989, 25416956, 31142615, 31515488, 32296183, 32935379
GO:0005737	Component	Cytoplasm	IDA	32935379
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	14722266
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	32935379
GO:0005886	Component	Plasma membrane	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IDA	14722266
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IMP	32935379
GO:0016740	Function	Transferase activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	14722266
GO:0044790	Process	Suppression of viral release by host	IMP	29573664
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	14722266
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	17980554, 31142615
GO:0140367	Process	Antibacterial innate immune response	IEA
GO:0140367	Process	Antibacterial innate immune response	ISS
GO:0140374	Process	Antiviral innate immune response	IEA
GO:0140374	Process	Antiviral innate immune response	ISS
GO:1905167	Process	Positive regulation of lysosomal protein catabolic process	IMP	29573664

MIM	HGNC	e!Ensembl
613332	28038	ENSG00000099785

Q9P0N8

Protein name

E3 ubiquitin-protein ligase MARCHF2 (EC 2.3.2.27) (Membrane-associated RING finger protein 2) (Membrane-associated RING-CH protein II) (MARCH-II) (RING finger protein 172) (RING-type E3 ubiquitin transferase MARCHF2)

Protein 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 enz

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12906	RINGv	64 → 109	RING-variant domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Broadly expressed. {ECO:0000269|PubMed:14722266}.

Sequence

MTTGDCCHLPGSLCDCSGSPAFSKVVEATGLGPPQYVAQVTSRDGRLLSTVIRALDTPSD
GPFCRICHEGANGECLLSPCGCTGTLGAVHKSCLEKWLSSSNTSYCELCHTEFAVEKRPR
PLTEWLKDPGPRTEKRTLCCDMVCFLFITPLAAISGWLCLRGAQDHLRLHSQLEAVGLIA
LTIALFTIYVLWTLVSFRYHCQLYSEWRKTNQKVRLKIREADSPEGPQHSPLAAGLLKKV
AEETPV

Sequence length

246

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute pancreatitis	Pancreatitis	BEFREE	28936436	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	31372852	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31744548	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31744548	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	27486034	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28749466	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27486034	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20841475, 21896642	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31744548	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28749466	★★★★★ ★☆☆☆☆ Found in Text Mining only

MARCHF2 (membrane associated ring-CH-type finger 2)