Homo sapiens Gene: GDF5
Summary
InnateDB Gene IDBG-70038.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GDF5
Gene Name growth differentiation factor 5
Synonyms BDA1C; BMP-14; BMP14; CDMP1; LAP-4; LAP4; OS5; SYM1B; SYNS2;
Species Homo sapiens
Ensembl Gene ENSG00000125965
Encoded Proteins
growth differentiation factor 5
growth differentiation factor 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:35433347-35454746
Strand Reverse strand
Band q11.22
Transcripts
ENST00000374372 ENSP00000363492
ENST00000374369 ENSP00000363489
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 9 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005102 receptor binding
GO:0005125 cytokine activity
GO:0005515 protein binding
GO:0008083 growth factor activity
Biological Process
GO:0002062 chondrocyte differentiation
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0030198 extracellular matrix organization
GO:0030326 embryonic limb morphogenesis
GO:0032332 positive regulation of chondrocyte differentiation
GO:0035136 forelimb morphogenesis
GO:0035137 hindlimb morphogenesis
GO:0040007 growth
GO:0040014 regulation of multicellular organism growth
GO:0043524 negative regulation of neuron apoptotic process
GO:0045666 positive regulation of neuron differentiation
GO:0050680 negative regulation of epithelial cell proliferation
GO:2001054 negative regulation of mesenchymal cell apoptotic process
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Elastic fibre formation pathway
Extracellular matrix organization pathway
Molecules associated with elastic fibres pathway
KEGG
Cytokine-cytokine receptor interaction pathway
TGF-beta signaling pathway pathway
INOH
GPCR signaling pathway
TGF-beta signaling pathway
BMP2 signaling pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt P43026
TrEMBL D3YQT0 D3YR87 F1T0J1
UniProt Splice Variant
Entrez Gene 8200
UniGene Hs.1573 Hs.737014
RefSeq NM_000557
HUGO HGNC:4220
OMIM 601146
CCDS CCDS13254
HPRD 03092
IMGT
EMBL AB593125 AL121586 BC032495 CH471077 GU831600 GU831601 GU831602 GU831603 GU831604 GU831605 GU831606 GU831607 GU831608 GU831609 GU831610 GU831611 GU831612 GU831613 GU831614 GU831615 GU831616 GU831617 GU831618 GU831619 GU831620 GU831621 GU831622 GU831623 GU831624 GU831625 GU831626 GU831627 GU831628 GU831629 GU831630 GU831631 GU831632 GU831633 GU831634 GU831635 GU831636 GU831637 GU831638 GU831639 GU831640 GU831641 GU831642 GU831643 GU831644 GU831645 GU831646 GU831647 GU831648 GU831649 GU831650 GU831651 GU831652 GU831653 GU831654 GU831656 GU831657 GU831658 GU831659 GU831660 GU831661 GU831663 GU831664 GU831665 GU831666 GU831667 GU831668 GU831669 GU831670 GU831671 GU831672 GU831673 GU831674 GU831675 GU831676 GU831677 GU831678 GU831679 GU831680 GU831681 GU831683 GU831684 GU831685 GU831686 GU831687 GU831688 GU831689 GU831690 GU831691 GU831692 GU831693 GU831694 GU831695 GU831696 GU831697 GU831698 GU831699 GU831700 GU831701 GU831702 GU831703 GU831704 GU831705 GU831706 GU831707 GU831708 GU831709 GU831710 GU831711 GU831712 GU831713 GU831714 GU831715 GU831716 GU831717 GU831718 GU831719 GU831720 GU831721 GU831722 GU831723 GU831724 GU831725 GU831726 GU831727 GU831729 GU831730 GU831732 GU831733 GU831734 GU831735 GU831736 GU831737 GU831738 GU831740 GU831741 GU831757 GU831758 GU831768 GU831771 GU831777 GU831783 GU831796 GU831803 GU831804 GU831805 GU831806 GU831810 GU831813 GU831816 GU831818 GU831820 GU831823 GU831824 GU831826 GU831827 GU831828 GU831830 GU831834 GU831835 GU831836 GU831841 GU831850 GU831852 GU831868 U13660 X80915
GenPept AAA57007 AAH32495 ADD39269 ADD39270 ADD39271 ADD39272 ADD39273 ADD39274 ADD39275 ADD39276 ADD39277 ADD39278 ADD39279 ADD39280 ADD39281 ADD39282 ADD39283 ADD39284 ADD39285 ADD39286 ADD39287 ADD39288 ADD39289 ADD39290 ADD39291 ADD39292 ADD39293 ADD39294 ADD39295 ADD39296 ADD39297 ADD39298 ADD39299 ADD39300 ADD39301 ADD39302 ADD39303 ADD39304 ADD39305 ADD39306 ADD39307 ADD39308 ADD39309 ADD39310 ADD39311 ADD39312 ADD39313 ADD39314 ADD39315 ADD39316 ADD39317 ADD39318 ADD39319 ADD39320 ADD39321 ADD39322 ADD39323 ADD39325 ADD39326 ADD39327 ADD39328 ADD39329 ADD39330 ADD39332 ADD39333 ADD39334 ADD39335 ADD39336 ADD39337 ADD39338 ADD39339 ADD39340 ADD39341 ADD39342 ADD39343 ADD39344 ADD39345 ADD39346 ADD39347 ADD39348 ADD39349 ADD39350 ADD39352 ADD39353 ADD39354 ADD39355 ADD39356 ADD39357 ADD39358 ADD39359 ADD39360 ADD39361 ADD39362 ADD39363 ADD39364 ADD39365 ADD39366 ADD39367 ADD39368 ADD39369 ADD39370 ADD39371 ADD39372 ADD39373 ADD39374 ADD39375 ADD39376 ADD39377 ADD39378 ADD39379 ADD39380 ADD39381 ADD39382 ADD39383 ADD39384 ADD39385 ADD39386 ADD39387 ADD39388 ADD39389 ADD39390 ADD39391 ADD39392 ADD39393 ADD39394 ADD39395 ADD39396 ADD39398 ADD39399 ADD39401 ADD39402 ADD39403 ADD39404 ADD39405 ADD39406 ADD39407 ADD39409 ADD39410 ADD39426 ADD39427 ADD39437 ADD39440 ADD39446 ADD39452 ADD39465 ADD39472 ADD39473 ADD39474 ADD39475 ADD39479 ADD39482 ADD39485 ADD39487 ADD39489 ADD39492 ADD39493 ADD39495 ADD39496 ADD39497 ADD39499 ADD39503 ADD39504 ADD39505 ADD39510 ADD39519 ADD39521 ADD39537 BAJ84065 CAA56874 CAB89416 EAW76208 EAW76209
RNA Seq Atlas 8200