Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

2022

Name

ENG

Synonymous

CD105|END|HHT1|ORW|ORW1;endoglin;ENG;endoglin

Definition

CD105 antigen

Position

9q34.11

Gene Type

protein-coding

Gene Regulation:

ENCODE RegulomeDB
Transcription Factors
Post Transcriptional Modification From dbPTM
Methylation Profile From DiseaseMeth database

ENCODE RegulomeDB   [Top]

Link to UCSC genome

Matched SNP location

dbSNP ID

Regulatory information

chr9:130577291-130617035chr9:130605385-130605385rs16930129Single_Nucleotides|eQTL|ENG, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|FAIRE|Nhbe, Chromatin_Structure|DNase-seq|Hepatocytes

Transcription Factors   [Top]

Regulation From TransFac database

TGFbetaR-I(h) + endoglin(h) <==> TGFbetaR-I(h):endoglin(h) (binding)
TGFbetaR-II(h) + endoglin(h) <==> TGFbetaR-II(h):endoglin(h) (binding)
endoglin(h) + ATP --TGFbetaR-I(h)--> endoglin(h){p} + ADP (phosphorylation)
endoglin(h) + ATP --TGFbetaR-II(h)--> endoglin(h){p} + ADP (phosphorylation)
endoglin(h) --> eNOS(h) (activation; increase of abundance)
endoglin(h) + Hsp90(h) + caveolin-1(h) + eNOS(h) <==> endoglin(h):Hsp90(h):caveolin-1(h):eNOS(h) (binding)
ENG(h) --> endoglin(h) (expression).
ENG(h) --> endoglin(h) (expression).

Post Transcriptional Modification   [Top]

Location (AA)

PTM type

Literature

Database

88N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
102N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
121N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
134N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
307N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0

Methylation Profile   [Top]

Chromosome

Location

Source

chr9

Promoter: 129656305 - 129658305GSE27584

chr9

Promoter: 129656305 - 129658305Agilent_014791_44K

chr9

Promoter: 129656305 - 129658305PMID:15911247

chr9

Promoter: 129656305 - 129658305PMID:16952549


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