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Protein

Growth/differentiation factor 2

Gene

GDF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Potent circulating inhibitor of angiogenesis. Could be involved in bone formation. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG.3 Publications

GO - Molecular functioni

GO - Biological processi

  • activin receptor signaling pathway Source: BHF-UCL
  • angiogenesis Source: UniProtKB
  • blood vessel morphogenesis Source: DFLAT
  • BMP signaling pathway Source: BHF-UCL
  • cartilage development Source: DFLAT
  • cell development Source: GO_Central
  • cellular iron ion homeostasis Source: DFLAT
  • cellular response to BMP stimulus Source: BHF-UCL
  • growth Source: InterPro
  • negative regulation of angiogenesis Source: DFLAT
  • negative regulation of blood vessel endothelial cell migration Source: DFLAT
  • negative regulation of cell growth Source: BHF-UCL
  • negative regulation of DNA biosynthetic process Source: BHF-UCL
  • negative regulation of DNA replication Source: DFLAT
  • negative regulation of endothelial cell migration Source: BHF-UCL
  • negative regulation of endothelial cell proliferation Source: DFLAT
  • ossification Source: DFLAT
  • osteoblast differentiation Source: Ensembl
  • pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
  • patterning of blood vessels Source: DFLAT
  • positive regulation of angiogenesis Source: DFLAT
  • positive regulation of BMP signaling pathway Source: Ensembl
  • positive regulation of cartilage development Source: Ensembl
  • positive regulation of endothelial cell differentiation Source: Ensembl
  • positive regulation of endothelial cell proliferation Source: DFLAT
  • positive regulation of interleukin-8 production Source: BHF-UCL
  • positive regulation of osteoblast differentiation Source: Ensembl
  • positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
  • positive regulation of transcription, DNA-templated Source: BHF-UCL
  • positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • regulation of apoptotic process Source: GO_Central
  • regulation of MAPK cascade Source: GO_Central
  • SMAD protein signal transduction Source: GO_Central
  • vasculogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Cytokine, Growth factor

Keywords - Biological processi

Angiogenesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000128802-MONOMER.
SIGNORiQ9UK05.

Names & Taxonomyi

Protein namesi
Recommended name:
Growth/differentiation factor 2
Short name:
GDF-2
Alternative name(s):
Bone morphogenetic protein 9
Short name:
BMP-9
Gene namesi
Name:GDF2
Synonyms:BMP9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:4217. GDF2.

Subcellular locationi

GO - Cellular componenti

  • cell Source: GOC
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Telangiectasia, hereditary hemorrhagic, 5 (HHT5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
See also OMIM:615506
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07068968R → L in HHT5; impaired protein processing and function. 1 PublicationCorresponds to variant rs200330818dbSNPEnsembl.1
Natural variantiVAR_07069085P → L in HHT5; impaired protein processing and function. 1 PublicationCorresponds to variant rs199804679dbSNPEnsembl.1
Natural variantiVAR_070691333R → W in HHT5; impaired protein processing and function. 1 PublicationCorresponds to variant rs35129734dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2658.
MalaCardsiGDF2.
MIMi615506. phenotype.
OpenTargetsiENSG00000263761.
Orphaneti774. Hereditary hemorrhagic telangiectasia.
PharmGKBiPA28632.

Polymorphism and mutation databases

BioMutaiGDF2.
DMDMi13124266.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
PropeptideiPRO_000003390223 – 319By similarityAdd BLAST297
ChainiPRO_0000033903320 – 429Growth/differentiation factor 2Add BLAST110

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi71N-linked (GlcNAc...)Sequence analysis1
Glycosylationi136N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi327 ↔ 393
Disulfide bondi356 ↔ 426
Disulfide bondi360 ↔ 428
Disulfide bondi392Interchain

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9UK05.
PaxDbiQ9UK05.
PeptideAtlasiQ9UK05.
PRIDEiQ9UK05.

PTM databases

iPTMnetiQ9UK05.
PhosphoSitePlusiQ9UK05.

Expressioni

Gene expression databases

BgeeiENSG00000128802.
CleanExiHS_GDF2.
GenevisibleiQ9UK05. HS.

Organism-specific databases

HPAiCAB023357.

Interactioni

Subunit structurei

Homodimer; disulfide-linked. Interacts with ENG.5 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108928. 3 interactors.
STRINGi9606.ENSP00000249598.

Structurei

Secondary structure

1429
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi328 – 330Combined sources3
Beta strandi333 – 335Combined sources3
Turni336 – 340Combined sources5
Turni342 – 344Combined sources3
Beta strandi345 – 347Combined sources3
Beta strandi349 – 352Combined sources4
Beta strandi355 – 358Combined sources4
Helixi366 – 368Combined sources3
Helixi372 – 383Combined sources12
Turni385 – 387Combined sources3
Beta strandi393 – 406Combined sources14
Beta strandi408 – 410Combined sources3
Beta strandi412 – 428Combined sources17

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ZKZX-ray2.33A320-429[»]
4FAOX-ray3.36A/B/G/H/M/N/S/T/a/b/g/h320-429[»]
4MPLX-ray1.90A321-429[»]
4YCGX-ray3.30C/D320-429[»]
4YCIX-ray3.25C/D320-429[»]
ProteinModelPortaliQ9UK05.
SMRiQ9UK05.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UK05.

Family & Domainsi

Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3900. Eukaryota.
ENOG410XT8Z. LUCA.
GeneTreeiENSGT00760000118883.
HOGENOMiHOG000249477.
HOVERGENiHBG106648.
InParanoidiQ9UK05.
KOiK05503.
OMAiENMKVDF.
OrthoDBiEOG091G075U.
PhylomeDBiQ9UK05.
TreeFamiTF316134.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR002405. Inhibin_asu.
IPR001839. TGF-b_C.
IPR001111. TGF-b_N.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view]
PANTHERiPTHR11848. PTHR11848. 2 hits.
PfamiPF00019. TGF_beta. 1 hit.
PF00688. TGFb_propeptide. 1 hit.
[Graphical view]
PRINTSiPR00669. INHIBINA.
SMARTiSM00204. TGFB. 1 hit.
[Graphical view]
SUPFAMiSSF57501. SSF57501. 1 hit.
PROSITEiPS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9UK05-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MCPGALWVAL PLLSLLAGSL QGKPLQSWGR GSAGGNAHSP LGVPGGGLPE
60 70 80 90 100
HTFNLKMFLE NVKVDFLRSL NLSGVPSQDK TRVEPPQYMI DLYNRYTSDK
110 120 130 140 150
STTPASNIVR SFSMEDAISI TATEDFPFQK HILLFNISIP RHEQITRAEL
160 170 180 190 200
RLYVSCQNHV DPSHDLKGSV VIYDVLDGTD AWDSATETKT FLVSQDIQDE
210 220 230 240 250
GWETLEVSSA VKRWVRSDST KSKNKLEVTV ESHRKGCDTL DISVPPGSRN
260 270 280 290 300
LPFFVVFSND HSSGTKETRL ELREMISHEQ ESVLKKLSKD GSTEAGESSH
310 320 330 340 350
EEDTDGHVAA GSTLARRKRS AGAGSHCQKT SLRVNFEDIG WDSWIIAPKE
360 370 380 390 400
YEAYECKGGC FFPLADDVTP TKHAIVQTLV HLKFPTKVGK ACCVPTKLSP
410 420
ISVLYKDDMG VPTLKYHYEG MSVAECGCR
Length:429
Mass (Da):47,320
Last modified:May 1, 2000 - v1
Checksum:i5AC15DCA205FF086
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07068968R → L in HHT5; impaired protein processing and function. 1 PublicationCorresponds to variant rs200330818dbSNPEnsembl.1
Natural variantiVAR_07069085P → L in HHT5; impaired protein processing and function. 1 PublicationCorresponds to variant rs199804679dbSNPEnsembl.1
Natural variantiVAR_070691333R → W in HHT5; impaired protein processing and function. 1 PublicationCorresponds to variant rs35129734dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF188285 mRNA. Translation: AAD56960.1.
AL731561 Genomic DNA. Translation: CAH74046.1.
CH471251 Genomic DNA. Translation: EAW50660.1.
BC069643 mRNA. Translation: AAH69643.1.
BC074921 mRNA. Translation: AAH74921.1.
AF156891 mRNA. Translation: AAD40309.1.
CCDSiCCDS73118.1.
RefSeqiNP_057288.1. NM_016204.3.
UniGeneiHs.279463.

Genome annotation databases

EnsembliENST00000581492; ENSP00000463051; ENSG00000263761.
GeneIDi2658.
KEGGihsa:2658.
UCSCiuc001jfa.2. human.

Cross-referencesi

Web resourcesi

Wikipedia

GDF2 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF188285 mRNA. Translation: AAD56960.1.
AL731561 Genomic DNA. Translation: CAH74046.1.
CH471251 Genomic DNA. Translation: EAW50660.1.
BC069643 mRNA. Translation: AAH69643.1.
BC074921 mRNA. Translation: AAH74921.1.
AF156891 mRNA. Translation: AAD40309.1.
CCDSiCCDS73118.1.
RefSeqiNP_057288.1. NM_016204.3.
UniGeneiHs.279463.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ZKZX-ray2.33A320-429[»]
4FAOX-ray3.36A/B/G/H/M/N/S/T/a/b/g/h320-429[»]
4MPLX-ray1.90A321-429[»]
4YCGX-ray3.30C/D320-429[»]
4YCIX-ray3.25C/D320-429[»]
ProteinModelPortaliQ9UK05.
SMRiQ9UK05.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108928. 3 interactors.
STRINGi9606.ENSP00000249598.

PTM databases

iPTMnetiQ9UK05.
PhosphoSitePlusiQ9UK05.

Polymorphism and mutation databases

BioMutaiGDF2.
DMDMi13124266.

Proteomic databases

EPDiQ9UK05.
PaxDbiQ9UK05.
PeptideAtlasiQ9UK05.
PRIDEiQ9UK05.

Protocols and materials databases

DNASUi2658.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000581492; ENSP00000463051; ENSG00000263761.
GeneIDi2658.
KEGGihsa:2658.
UCSCiuc001jfa.2. human.

Organism-specific databases

CTDi2658.
DisGeNETi2658.
GeneCardsiGDF2.
HGNCiHGNC:4217. GDF2.
HPAiCAB023357.
MalaCardsiGDF2.
MIMi605120. gene.
615506. phenotype.
neXtProtiNX_Q9UK05.
OpenTargetsiENSG00000263761.
Orphaneti774. Hereditary hemorrhagic telangiectasia.
PharmGKBiPA28632.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3900. Eukaryota.
ENOG410XT8Z. LUCA.
GeneTreeiENSGT00760000118883.
HOGENOMiHOG000249477.
HOVERGENiHBG106648.
InParanoidiQ9UK05.
KOiK05503.
OMAiENMKVDF.
OrthoDBiEOG091G075U.
PhylomeDBiQ9UK05.
TreeFamiTF316134.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000128802-MONOMER.
SIGNORiQ9UK05.

Miscellaneous databases

EvolutionaryTraceiQ9UK05.
GeneWikiiGDF2.
GenomeRNAii2658.
PROiQ9UK05.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128802.
CleanExiHS_GDF2.
GenevisibleiQ9UK05. HS.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR002405. Inhibin_asu.
IPR001839. TGF-b_C.
IPR001111. TGF-b_N.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view]
PANTHERiPTHR11848. PTHR11848. 2 hits.
PfamiPF00019. TGF_beta. 1 hit.
PF00688. TGFb_propeptide. 1 hit.
[Graphical view]
PRINTSiPR00669. INHIBINA.
SMARTiSM00204. TGFB. 1 hit.
[Graphical view]
SUPFAMiSSF57501. SSF57501. 1 hit.
PROSITEiPS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGDF2_HUMAN
AccessioniPrimary (citable) accession number: Q9UK05
Secondary accession number(s): Q5VSQ9, Q9Y571
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: May 1, 2000
Last modified: November 2, 2016
This is version 143 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.