Entity Details

Primary name AEBP1
Entity type gene
Source Source Link

Details

PrimaryID165
RefseqGeneNG_056775
SymbolAEBP1
NameAE binding protein 1
Chromosome7
Location7p13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-03-06
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsAEBP1_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0004180 carboxypeptidase activity
GO:0005516 calmodulin binding
GO:0005518 collagen binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0008270 zinc ion binding
GO:0062023 collagen-containing extracellular matrix
GO:0070062 extracellular exosome
GO:1904026 regulation of collagen fibril organization

Diseases

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Disease IDSourceNameDescription
618000 OMIMEhlers-Danlos syndrome, classic-like, 2 (EDSCLL2)A variant form of Ehlers-Danlos syndrome, a connective tissue disorder. EDSCLL2 patients show severe joint and skin laxity, osteoporosis affecting the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Additional variable features include gastrointestinal and genitourinary manifestations (bowel rupture, gut dysmotility, cryptorchidism, and hernias), vascular complications (mitral valve prolapse and aortic root dilation), and skeletal anomalies. EDSCLL2 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
AEBP1GRB2BioGRID18624398 details
AEBP1TCF3HPRD9624159 details
AEBP1HERC2BioGRID29511261 details
AEBP1PRKD2BioGRID30652415 details