Details for: GDF5

Gene ID: 8200

Symbol: GDF5

Ensembl ID: ENSG00000125965

Description: growth differentiation factor 5

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.4384
    Cell Significance Index: 10.6200
  • Cell Name: salivary gland cell (CL0009005)
    Fold Change: 0.2589
    Cell Significance Index: 3.2200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.2553
    Cell Significance Index: 4.0500
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.2279
    Cell Significance Index: 1.4100
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.1979
    Cell Significance Index: 1.9200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1493
    Cell Significance Index: 3.2700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1217
    Cell Significance Index: 2.0900
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.0714
    Cell Significance Index: 0.9900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0688
    Cell Significance Index: 3.2100
  • Cell Name: articular chondrocyte (CL1001607)
    Fold Change: 0.0664
    Cell Significance Index: 0.3600
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0336
    Cell Significance Index: 0.4300
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.0302
    Cell Significance Index: 0.3900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0238
    Cell Significance Index: 4.7200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0196
    Cell Significance Index: 0.4100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0169
    Cell Significance Index: 0.3500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0113
    Cell Significance Index: 0.5300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0099
    Cell Significance Index: 0.7600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0075
    Cell Significance Index: 2.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0057
    Cell Significance Index: 1.0200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0033
    Cell Significance Index: 0.4300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0028
    Cell Significance Index: 0.5600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0017
    Cell Significance Index: 0.2500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0010
    Cell Significance Index: 1.8800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0001
    Cell Significance Index: 0.1900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0001
    Cell Significance Index: -0.1800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0003
    Cell Significance Index: -0.1400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0006
    Cell Significance Index: -0.9700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0009
    Cell Significance Index: -0.1600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0013
    Cell Significance Index: -0.0600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0015
    Cell Significance Index: -0.4300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0018
    Cell Significance Index: -1.1600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0026
    Cell Significance Index: -1.9600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0026
    Cell Significance Index: -1.9500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0028
    Cell Significance Index: -1.5100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0036
    Cell Significance Index: -2.0400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0037
    Cell Significance Index: -0.1000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0038
    Cell Significance Index: -2.3900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0040
    Cell Significance Index: -1.8200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0070
    Cell Significance Index: -0.1000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0090
    Cell Significance Index: -1.2400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0107
    Cell Significance Index: -2.2500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0113
    Cell Significance Index: -0.5100
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0116
    Cell Significance Index: -0.1800
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: -0.0132
    Cell Significance Index: -0.1700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0133
    Cell Significance Index: -0.9400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0136
    Cell Significance Index: -1.6700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0141
    Cell Significance Index: -1.6100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0142
    Cell Significance Index: -1.0600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0151
    Cell Significance Index: -0.1800
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0174
    Cell Significance Index: -0.2400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0184
    Cell Significance Index: -0.3100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0186
    Cell Significance Index: -2.1700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0203
    Cell Significance Index: -0.3000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0218
    Cell Significance Index: -2.2700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0220
    Cell Significance Index: -1.3500
  • Cell Name: serous cell of epithelium of trachea (CL1000330)
    Fold Change: -0.0234
    Cell Significance Index: -0.1800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0235
    Cell Significance Index: -2.4000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0244
    Cell Significance Index: -1.3700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0245
    Cell Significance Index: -1.6500
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0353
    Cell Significance Index: -0.6900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0389
    Cell Significance Index: -1.7200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0397
    Cell Significance Index: -1.0800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0447
    Cell Significance Index: -1.1500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0475
    Cell Significance Index: -1.8000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0504
    Cell Significance Index: -1.4100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0524
    Cell Significance Index: -2.7500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0543
    Cell Significance Index: -1.0600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0557
    Cell Significance Index: -1.4700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0567
    Cell Significance Index: -1.9900
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0586
    Cell Significance Index: -0.8400
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0595
    Cell Significance Index: -0.8300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0597
    Cell Significance Index: -1.9000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0608
    Cell Significance Index: -2.1400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0620
    Cell Significance Index: -1.7700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0626
    Cell Significance Index: -2.0500
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0644
    Cell Significance Index: -1.1100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0659
    Cell Significance Index: -1.7600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0662
    Cell Significance Index: -2.4300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0676
    Cell Significance Index: -2.3500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0708
    Cell Significance Index: -2.0400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0711
    Cell Significance Index: -1.1900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0740
    Cell Significance Index: -2.1200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0745
    Cell Significance Index: -0.8100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0778
    Cell Significance Index: -1.9400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0784
    Cell Significance Index: -2.4800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0785
    Cell Significance Index: -2.1000
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.0791
    Cell Significance Index: -1.6500
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.0801
    Cell Significance Index: -0.4700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0815
    Cell Significance Index: -1.7300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0822
    Cell Significance Index: -2.4200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0838
    Cell Significance Index: -2.4600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0859
    Cell Significance Index: -2.0600
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0870
    Cell Significance Index: -2.1700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0904
    Cell Significance Index: -2.3100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0905
    Cell Significance Index: -1.7900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0907
    Cell Significance Index: -1.9600
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.0911
    Cell Significance Index: -1.2800
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0912
    Cell Significance Index: -1.2500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0921
    Cell Significance Index: -1.3600
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0922
    Cell Significance Index: -2.3500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** GDF5 is a secreted glycoprotein that belongs to the TGF-β superfamily, characterized by its ability to bind to specific receptors and activate downstream signaling pathways. Its expression is widespread, with notable presence in various cell types, including immune cells, epithelial cells, and mesenchymal cells. GDF5 exhibits a unique ability to modulate multiple signaling pathways, including BMP (Bone Morphogenetic Protein) and TGF-β pathways, which are crucial for cell growth, differentiation, and apoptosis. **Pathways and Functions:** GDF5 is involved in various biological processes, including: 1. **Cell-cell signaling:** GDF5 interacts with BMP receptors, triggering a signaling cascade that regulates cell growth, differentiation, and survival. 2. **Chondroblast and chondrocyte differentiation:** GDF5 plays a crucial role in the development and maintenance of cartilage and bone tissue, influencing chondroblast and chondrocyte differentiation. 3. **Cytokine activity:** GDF5 modulates the activity of various cytokines, including TGF-β, BMPs, and IL-1β, which are essential for immune regulation and inflammation. 4. **Elastic fibre formation:** GDF5 is involved in the regulation of elastic fibre formation, essential for maintaining tissue elasticity and structure. 5. **Embryonic limb morphogenesis:** GDF5 plays a critical role in the development and patterning of the limbs during embryonic development. **Clinical Significance:** GDF5 has been implicated in various diseases and disorders, including: 1. **Osteoarthritis:** GDF5 has been linked to the development and progression of osteoarthritis, a degenerative joint disease characterized by cartilage degradation and bone remodeling. 2. **Immune-related disorders:** Abnormal GDF5 expression has been observed in autoimmune diseases, such as rheumatoid arthritis and lupus, highlighting its role in immune regulation. 3. **Cancer:** GDF5 has been implicated in cancer development and progression, particularly in osteosarcoma and other bone malignancies. 4. **Neurological disorders:** GDF5 has been linked to neurodegenerative diseases, such as Alzheimer's and Parkinson's, suggesting its potential role in neuronal development and survival. In conclusion, GDF5 is a multifunctional protein that plays a critical role in immune regulation, development, and disease. Its unique characteristics, signaling pathways, and functional roles highlight its importance in various biological processes. Further research is necessary to elucidate the complexities of GDF5 and its implications in human disease.

Genular Protein ID: 3647034183

Symbol: GDF5_HUMAN

Name: Growth/differentiation factor 5

UniProtKB Accession Codes:

P43026 E1P5Q2 Q96SB1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 27 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 19 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 9 OrthoDB 1 PANTHER 2 PDB 15 PDBsum 15 PIR 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 7980526

Title: Cloning and expression of recombinant human growth/differentiation factor 5.

PubMed ID: 7980526

DOI: 10.1006/bbrc.1994.2508

PubMed ID: 7961761

Title: Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development.

PubMed ID: 7961761

DOI: 10.1016/s0021-9258(18)46918-9

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8589725

Title: A human chondrodysplasia due to a mutation in a TGF-beta superfamily member.

PubMed ID: 8589725

DOI: 10.1038/ng0396-315

PubMed ID: 11276205

Title: A CD14-independent LPS receptor cluster.

PubMed ID: 11276205

DOI: 10.1038/86342

PubMed ID: 15530414

Title: Cartilage-derived morphogenetic protein-1 promotes the differentiation of mesenchymal stem cells into chondrocytes.

PubMed ID: 15530414

DOI: 10.1016/j.bbrc.2004.10.055

PubMed ID: 18339631

Title: Targeting of bone morphogenetic protein growth factor complexes to fibrillin.

PubMed ID: 18339631

DOI: 10.1074/jbc.m707820200

PubMed ID: 19956691

Title: Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.

PubMed ID: 19956691

DOI: 10.1371/journal.pgen.1000747

PubMed ID: 21976273

Title: New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.

PubMed ID: 21976273

DOI: 10.1002/jbmr.532

PubMed ID: 24098149

Title: A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

PubMed ID: 24098149

DOI: 10.1371/journal.pgen.1003846

PubMed ID: 25092592

Title: Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.

PubMed ID: 25092592

DOI: 10.1016/j.jmb.2014.07.029

PubMed ID: 26643732

Title: A New Subtype of Multiple-Synostoses Syndrome is Caused by a Mutation in GDF6 that Decreases its Sensitivity to Noggin and Enhances its Potency as a BMP Signal.

PubMed ID: 26643732

DOI: 10.1002/jbmr.2761

PubMed ID: 22828468

Title: A novel mutation in CDMP1 causes brachydactyly type C with 'angel-shaped phalanx'. A genotype-phenotype correlation in the mutational spectrum.

PubMed ID: 22828468

DOI: 10.1016/j.ejmg.2012.07.004

PubMed ID: 19229295

Title: Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity.

PubMed ID: 19229295

DOI: 10.1038/emboj.2009.37

PubMed ID: 9288098

Title: Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.

PubMed ID: 9288098

DOI: 10.1038/ng0997-58

PubMed ID: 12121354

Title: Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

PubMed ID: 12121354

DOI: 10.1034/j.1399-0004.2002.610610.x

PubMed ID: 14735582

Title: Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

PubMed ID: 14735582

DOI: 10.1002/ajmg.a.20349

PubMed ID: 16222676

Title: Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.

PubMed ID: 16222676

DOI: 10.1002/ajmg.a.30969

PubMed ID: 16127465

Title: Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

PubMed ID: 16127465

DOI: 10.1172/jci25118

PubMed ID: 16532400

Title: GDF5 is a second locus for multiple-synostosis syndrome.

PubMed ID: 16532400

DOI: 10.1086/503204

PubMed ID: 16892395

Title: A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.

PubMed ID: 16892395

DOI: 10.1002/ajmg.a.31372

PubMed ID: 17384641

Title: A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.

PubMed ID: 17384641

DOI: 10.1038/2005

PubMed ID: 18629880

Title: Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.

PubMed ID: 18629880

DOI: 10.1002/ajmg.a.32435

PubMed ID: 18203755

Title: Brachydactyly type A2 associated with a defect in proGDF5 processing.

PubMed ID: 18203755

DOI: 10.1093/hmg/ddn012

PubMed ID: 18283415

Title: Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

PubMed ID: 18283415

DOI: 10.1007/s10038-008-0253-7

PubMed ID: 20683927

Title: Mutations in GDF5 presenting as semidominant brachydactyly A1.

PubMed ID: 20683927

DOI: 10.1002/humu.21338

PubMed ID: 25820810

Title: Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.

PubMed ID: 25820810

DOI: 10.1002/ajmg.a.37040

Sequence Information:

  • Length: 501
  • Mass: 55395
  • Checksum: FEBACCFBD7597C37
  • Sequence:
    • MRLPKLLTFL LWYLAWLDLE FICTVLGAPD LGQRPQGTRP GLAKAEAKER PPLARNVFRP 
GGHSYGGGAT NANARAKGGT GQTGGLTQPK KDEPKKLPPR PGGPEPKPGH PPQTRQATAR 
TVTPKGQLPG GKAPPKAGSV PSSFLLKKAR EPGPPREPKE PFRPPPITPH EYMLSLYRTL 
SDADRKGGNS SVKLEAGLAN TITSFIDKGQ DDRGPVVRKQ RYVFDISALE KDGLLGAELR 
ILRKKPSDTA KPAAPGGGRA AQLKLSSCPS GRQPAALLDV RSVPGLDGSG WEVFDIWKLF 
RNFKNSAQLC LELEAWERGR AVDLRGLGFD RAARQVHEKA LFLVFGRTKK RDLFFNEIKA 
RSGQDDKTVY EYLFSQRRKR RAPLATRQGK RPSKNLKARC SRKALHVNFK DMGWDDWIIA 
PLEYEAFHCE GLCEFPLRSH LEPTNHAVIQ TLMNSMDPES TPPTCCVPTR LSPISILFID 
SANNVVYKQY EDMVVESCGC R

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.