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MGAT4C (MGAT4 Family Member C) is a Protein Coding gene. Diseases associated with MGAT4C include Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 and Glycogen Storage Disease Iii. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups and alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity. An important paralog of this gene is MGAT4A.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH12J086838 | Promoter/Enhancer | 0.9 | EPDnew Ensembl | 250.7 | +1.1 | 1099 | 2.6 | MAFF ZNF316 MAFK MAFG CTCF POLR2A RAD21 EMSY | ENSG00000258185 MGAT4C piR-30126-002 NTS | |
GH12J086256 | Promoter | 0.6 | EPDnew | 250 | +582.6 | 582595 | 0.1 | PKNOX1 POLR2A RAD21 | lnc-MGAT4C-1 MGAT4C LOC105369877 HSALNG0092839 NTS ENSG00000258185 | |
GH12J086199 | Promoter | 0.3 | EPDnew | 257.8 | +639.7 | 639655 | 0.1 | MGAT4C HSALNG0092839 piR-31199-072 lnc-MGAT4C-1 NTS ENSG00000258185 | ||
GH12J085947 | Enhancer | 0.6 | Ensembl ENCODE | 25.3 | +890.3 | 890316 | 2.5 | ETS1 EGR1 SP1 POU5F1 NANOG | MGAT4C NTS ENSG00000258178 HSALNG0092832 piR-56133-059 | |
GH12J085952 | Enhancer | 0.3 | Ensembl | 25.1 | +886.5 | 886499 | 0.6 | CTCF RAD21 | MGAT4C HSALNG0092832 piR-56133-059 NTS |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008375 | acetylglucosaminyltransferase activity | IBA | 21873635 |
GO:0008454 | alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | N-Glycan biosynthesis | ||
2 | Transport to the Golgi and subsequent modification | ||
3 | Metabolism of proteins | ||
4 | N-glycan antennae elongation in the medial/trans-Golgi | ||
5 | Metabolism |
Symbol | External ID(s) | Details |
---|---|---|
B4GALT6 | ||
CSGALNACT2 | ||
GAL | ||
LARGE2 | ||
LDLR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IEA | -- |
GO:0006487 | protein N-linked glycosylation | IBA | 21873635 |
GO:0018215 | protein phosphopantetheinylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Uridine 5'-diphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Uridine diphosphate-N-acetylglucosamine |
|
528-04-1 |
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||
SP4: | - | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MGAT4C 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MGAT4C 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MGAT4C 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mgat4c 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mgat4c 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MGAT4C 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MGAT4C 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MGAT4C 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MGAT4C 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mgat4c 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mgat4c 31 |
|
OneToOne | |
LOC100333333 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG17173 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.589 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs34663658 | Benign: not provided | 85,979,478(-) |
G/A NM_013244.5(MGAT4C):c.1248C>T (p.Asn416=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs17855890 | - |
p.Thr428Ser |
Disorder | Aliases | PubMed IDs |
---|---|---|
congenital muscular dystrophy-dystroglycanopathy type a11 |
|
|
glycogen storage disease iii |
|
|
orofacial cleft 1 |
|
|