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

Basic Information

Gene ID

8200

Name

GDF5

Synonymous

BDA1C|BMP14|CDMP1|LAP4|OS5|SYNS2;growth differentiation factor 5;GDF5;growth differentiation factor 5

Definition

CDMP-1|GDF-5|cartilage-derived morphogenetic protein-1|growth/differentiation factor 5|radotermin

Position

20q11.2

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

chr20:34021145-34042568chr20:34022387-34022387rs224331Single_Nucleotides|eQTL|CEP250, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Nhdfneo, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Hpaf, Chromatin_Structure|DNase-seq|Hpf, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Skmc, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Ag09309, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Ag09319, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Ag10803, Chromatin_Structure|DNase-seq|Hvmf
chr20:34021145-34042568chr20:34023962-34023962rs224333Single_Nucleotides|eQTL|CEP250, Chromatin_Structure|DNase-seq|Ips
chr20:34021145-34042568chr20:34025756-34025756rs143384Single_Nucleotides|eQTL|CEP250, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Huvec

Transcription Factors   [Top]

Regulation From TransFac database

GDF5(h) --> GDF5(h) (expression).
GDF5(h) --> GDF5(h) (expression).

Post Transcriptional Modification   [Top]

Location (AA)

PTM type

Literature

Database

189N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0

Methylation Profile   [Top]

There is no record for GDF5



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