GDF3 (growth differentiation factor 3) - Rat Genome Database

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Gene: GDF3 (growth differentiation factor 3) Homo sapiens
Analyze
Symbol: GDF3
Name: growth differentiation factor 3
RGD ID: 1345464
HGNC Page HGNC:4218
Description: Enables protein kinase binding activity. Involved in several processes, including negative regulation of BMP signaling pathway; negative regulation of epidermal cell differentiation; and skeletal system development. Located in cytoplasm. Implicated in Klippel-Feil syndrome 3 and isolated microphthalmia 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GDF-3; growth/differentiation factor 3; KFS3; MCOP7; MCOPCB6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38127,689,784 - 7,695,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl127,689,784 - 7,695,775 (-)EnsemblGRCh38hg38GRCh38
GRCh37127,842,380 - 7,848,371 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,733,648 - 7,739,627 (-)NCBINCBI36Build 36hg18NCBI36
Build 34127,733,647 - 7,739,627NCBI
Celera129,419,392 - 9,425,368 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef127,656,489 - 7,662,465 (-)NCBIHuRef
CHM1_1127,839,618 - 7,847,334 (-)NCBICHM1_1
T2T-CHM13v2.0127,704,552 - 7,710,540 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8429021   PMID:9467948   PMID:10844590   PMID:12477932   PMID:12975309   PMID:15489334   PMID:16126341   PMID:16339188   PMID:18480259   PMID:18823971   PMID:19396148   PMID:19864492  
PMID:20237496   PMID:20734064   PMID:20800603   PMID:21805089   PMID:21873635   PMID:22305102   PMID:22488170   PMID:22963770   PMID:23400010   PMID:25372014   PMID:26186194   PMID:27803451  
PMID:28126904   PMID:28514442   PMID:29735971   PMID:33961781   PMID:35632746   PMID:36484260   PMID:38639949  


Genomics

Comparative Map Data
GDF3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38127,689,784 - 7,695,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl127,689,784 - 7,695,775 (-)EnsemblGRCh38hg38GRCh38
GRCh37127,842,380 - 7,848,371 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,733,648 - 7,739,627 (-)NCBINCBI36Build 36hg18NCBI36
Build 34127,733,647 - 7,739,627NCBI
Celera129,419,392 - 9,425,368 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef127,656,489 - 7,662,465 (-)NCBIHuRef
CHM1_1127,839,618 - 7,847,334 (-)NCBICHM1_1
T2T-CHM13v2.0127,704,552 - 7,710,540 (-)NCBIT2T-CHM13v2.0
Gdf3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396122,582,362 - 122,587,046 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6122,582,362 - 122,587,046 (-)EnsemblGRCm39 Ensembl
GRCm386122,605,403 - 122,610,087 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6122,605,403 - 122,610,087 (-)EnsemblGRCm38mm10GRCm38
MGSCv376122,555,421 - 122,560,089 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366122,571,022 - 122,575,690 (-)NCBIMGSCv36mm8
Celera6124,400,537 - 124,405,205 (-)NCBICelera
Cytogenetic Map6F1NCBI
cM Map657.7NCBI
Gdf3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84157,503,547 - 157,507,923 (-)NCBIGRCr8
mRatBN7.24155,831,572 - 155,835,953 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4155,830,909 - 155,835,937 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4162,096,256 - 162,100,528 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04157,879,466 - 157,883,738 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04156,524,567 - 156,528,834 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04155,417,667 - 155,422,014 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4155,417,004 - 155,421,998 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04222,441,866 - 222,445,551 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44159,064,054 - 159,067,854 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4144,650,730 - 144,655,147 (-)NCBICelera
Cytogenetic Map4q42NCBI
Gdf3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554136,493,734 - 6,516,315 (-)NCBIChiLan1.0ChiLan1.0
GDF3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21013,248,001 - 13,262,305 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11213,244,760 - 13,259,063 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0127,813,288 - 7,819,418 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1127,972,941 - 7,979,654 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl127,972,907 - 7,979,815 (-)Ensemblpanpan1.1panPan2
GDF3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12737,125,845 - 37,129,567 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2737,125,928 - 37,129,484 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha279,486,781 - 9,490,505 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02737,475,220 - 37,478,894 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2737,475,303 - 37,478,814 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12737,356,251 - 37,359,922 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02737,391,174 - 37,394,862 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0278,972,861 - 8,976,557 (+)NCBIUU_Cfam_GSD_1.0
Gdf3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494598,790,269 - 98,799,229 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049378477,456 - 16,783 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049378478,179 - 16,783 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GDF3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl562,835,880 - 62,841,884 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1562,835,926 - 62,841,827 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2565,666,056 - 65,672,100 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GDF3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1117,727,818 - 7,733,514 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl117,727,913 - 7,733,075 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666063470,438 - 475,790 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gdf3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248604,968,624 - 4,970,362 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GDF3
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020634.3(GDF3):c.982G>C (p.Val328Leu) single nucleotide variant Klippel-Feil syndrome 3, autosomal dominant [RCV000545019]|not provided [RCV001692178] Chr12:7689991 [GRCh38]
Chr12:7842587 [GRCh37]
Chr12:12p13.31		 benign
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) single nucleotide variant GDF3-related disorder [RCV003924856]|Klippel-Feil syndrome 3, autosomal dominant [RCV000023555]|Microphthalmia, isolated, with coloboma 6 [RCV000023556]|Scoliosis [RCV000414875]|not provided [RCV001091141] Chr12:7690177 [GRCh38]
Chr12:7842773 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_020634.3(GDF3):c.914T>C (p.Leu305Pro) single nucleotide variant Isolated microphthalmia 7 [RCV000023557]|Klippel-Feil syndrome 3, autosomal dominant [RCV001516658]|not specified [RCV002247386] Chr12:7690059 [GRCh38]
Chr12:7842655 [GRCh37]
Chr12:12p13.31		 pathogenic|benign
NM_020634.3(GDF3):c.584G>A (p.Arg195Gln) single nucleotide variant Isolated microphthalmia 7 [RCV000023558] Chr12:7690389 [GRCh38]
Chr12:7842985 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_020634.3(GDF3):c.820C>T (p.Arg274Trp) single nucleotide variant Microphthalmia, isolated, with coloboma 6 [RCV000023559]|not specified [RCV002247387] Chr12:7690153 [GRCh38]
Chr12:7842749 [GRCh37]
Chr12:12p13.31		 pathogenic|uncertain significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1 copy number loss See cases [RCV000052779] Chr12:6728665..7705620 [GRCh38]
Chr12:6837831..7858216 [GRCh37]
Chr12:6708092..7749483 [NCBI36]
Chr12:12p13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_020634.3(GDF3):c.974C>T (p.Pro325Leu) single nucleotide variant Microphthalmia, isolated, with coloboma 6 [RCV000059345] Chr12:7689999 [GRCh38]
Chr12:7842595 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.1(GDF3):c.642G>A (p.Val214=) single nucleotide variant Malignant melanoma [RCV000062608] Chr12:7690331 [GRCh38]
Chr12:7842927 [GRCh37]
Chr12:7734194 [NCBI36]
Chr12:12p13.31		 not provided
NM_020634.3(GDF3):c.232G>C (p.Val78Leu) single nucleotide variant not provided [RCV000171205] Chr12:7695497 [GRCh38]
Chr12:7848093 [GRCh37]
Chr12:12p13.31		 likely pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.31(chr12:7770670-8646662)x3 copy number gain See cases [RCV000448032] Chr12:7770670..8646662 [GRCh37]
Chr12:12p13.31		 likely benign
NM_020634.3(GDF3):c.914T>G (p.Leu305Arg) single nucleotide variant not provided [RCV000478595] Chr12:7690059 [GRCh38]
Chr12:7842655 [GRCh37]
Chr12:12p13.31		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
NM_020634.3(GDF3):c.709A>G (p.Thr237Ala) single nucleotide variant Klippel-Feil syndrome 3, autosomal dominant [RCV000648404] Chr12:7690264 [GRCh38]
Chr12:7842860 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NC_000012.12:g.7696031C>T single nucleotide variant not provided [RCV001643833] Chr12:7696031 [GRCh38]
Chr12:7848627 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p13.31(chr12:6911437-9381254)x3 copy number gain not provided [RCV000750277] Chr12:6911437..9381254 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6945914)_(8248706_?)dup duplication Temtamy syndrome [RCV001031096] Chr12:6945914..8248706 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.201C>G (p.Ser67=) single nucleotide variant not provided [RCV000945591] Chr12:7695528 [GRCh38]
Chr12:7848124 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NC_000012.12:g.(?_7689858)_(8096110_?)dup duplication Developmental and epileptic encephalopathy, 21 [RCV001032640] Chr12:7842454..8248706 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_020634.3(GDF3):c.162T>A (p.Ile54=) single nucleotide variant not provided [RCV000939795] Chr12:7695567 [GRCh38]
Chr12:7848163 [GRCh37]
Chr12:12p13.31		 likely benign
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31		 pathogenic|not provided
NM_020634.3(GDF3):c.161T>C (p.Ile54Thr) single nucleotide variant Klippel-Feil syndrome 3, autosomal dominant [RCV000796377] Chr12:7695568 [GRCh38]
Chr12:7848164 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.910T>C (p.Ser304Pro) single nucleotide variant Klippel-Feil syndrome 3, autosomal dominant [RCV000813728] Chr12:7690063 [GRCh38]
Chr12:7842659 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Temtamy syndrome [RCV000816630] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_020634.3(GDF3):c.306C>T (p.Ser102=) single nucleotide variant not provided [RCV000960786] Chr12:7690667 [GRCh38]
Chr12:7843263 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_020634.3(GDF3):c.751G>A (p.Ala251Thr) single nucleotide variant Klippel-Feil syndrome 3, autosomal dominant [RCV001217236] Chr12:7690222 [GRCh38]
Chr12:7842818 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.31(chr12:7815254-8013345)x1 copy number loss not provided [RCV000846280] Chr12:7815254..8013345 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.973C>A (p.Pro325Thr) single nucleotide variant not provided [RCV003313416] Chr12:7690000 [GRCh38]
Chr12:7842596 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.235C>T (p.Arg79Cys) single nucleotide variant not specified [RCV004306195] Chr12:7695494 [GRCh38]
Chr12:7848090 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_4368352)_(9027607_?)dup duplication Lymphoproliferative syndrome 2 [RCV003105682] Chr12:4368352..9027607 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
NC_000012.12:g.7695841C>T single nucleotide variant not provided [RCV001608491] Chr12:7695841 [GRCh38]
Chr12:7848437 [GRCh37]
Chr12:12p13.31		 benign
NM_020634.3(GDF3):c.583C>T (p.Arg195Trp) single nucleotide variant GDF3-related disorder [RCV003933237]|Klippel-Feil syndrome 3, autosomal dominant [RCV000945861]|Klippel-Feil syndrome 3, autosomal dominant [RCV002505405] Chr12:7690390 [GRCh38]
Chr12:7842986 [GRCh37]
Chr12:12p13.31		 benign|likely benign
NM_020634.3(GDF3):c.480C>T (p.Thr160=) single nucleotide variant GDF3-related disorder [RCV003970731]|Klippel-Feil syndrome 3, autosomal dominant [RCV000951872] Chr12:7690493 [GRCh38]
Chr12:7843089 [GRCh37]
Chr12:12p13.31		 likely benign
NM_020634.3(GDF3):c.635C>T (p.Ser212Leu) single nucleotide variant Klippel-Feil syndrome 3, autosomal dominant [RCV000890814] Chr12:7690338 [GRCh38]
Chr12:7842934 [GRCh37]
Chr12:12p13.31		 likely benign
NM_020634.3(GDF3):c.174C>T (p.Arg58=) single nucleotide variant not provided [RCV000890815] Chr12:7695555 [GRCh38]
Chr12:7848151 [GRCh37]
Chr12:12p13.31		 benign
NM_020634.3(GDF3):c.269-173A>G single nucleotide variant not provided [RCV001688750] Chr12:7690877 [GRCh38]
Chr12:7843473 [GRCh37]
Chr12:12p13.31		 benign
NM_020634.3(GDF3):c.268+117G>A single nucleotide variant not provided [RCV001666928] Chr12:7695344 [GRCh38]
Chr12:7847940 [GRCh37]
Chr12:12p13.31		 benign
NM_020634.3(GDF3):c.269-178G>A single nucleotide variant not provided [RCV001691282] Chr12:7690882 [GRCh38]
Chr12:7843478 [GRCh37]
Chr12:12p13.31		 benign
NM_020634.3(GDF3):c.269-196G>A single nucleotide variant not provided [RCV001708124] Chr12:7690900 [GRCh38]
Chr12:7843496 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.31(chr12:7755907-8436318)x3 copy number gain not provided [RCV001259128] Chr12:7755907..8436318 [GRCh37]
Chr12:12p13.31		 likely benign
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Developmental and epileptic encephalopathy, 21 [RCV001325295]|Klippel-Feil syndrome 3, autosomal dominant [RCV001301079]|Temtamy syndrome [RCV000816630]|not provided [RCV001859243] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31		 uncertain significance|no classifications from unflagged records
NM_020634.3(GDF3):c.186G>A (p.Ala62=) single nucleotide variant Klippel-Feil syndrome 3, autosomal dominant [RCV001397103] Chr12:7695543 [GRCh38]
Chr12:7848139 [GRCh37]
Chr12:12p13.31		 likely benign
NM_020634.3(GDF3):c.269-73G>A single nucleotide variant not provided [RCV001538523] Chr12:7690777 [GRCh38]
Chr12:7843373 [GRCh37]
Chr12:12p13.31		 benign
NM_020634.3(GDF3):c.637G>A (p.Gly213Arg) single nucleotide variant Klippel-Feil syndrome 3, autosomal dominant [RCV001511283]|not provided [RCV001655741] Chr12:7690336 [GRCh38]
Chr12:7842932 [GRCh37]
Chr12:12p13.31		 benign
NM_020634.3(GDF3):c.123C>G (p.Pro41=) single nucleotide variant Klippel-Feil syndrome 3, autosomal dominant [RCV001511798]|not provided [RCV001692400] Chr12:7695606 [GRCh38]
Chr12:7848202 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_020634.3(GDF3):c.8G>A (p.Arg3His) single nucleotide variant not provided [RCV001774010] Chr12:7695721 [GRCh38]
Chr12:7848317 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6438478)_(8756953_?)dup duplication not provided [RCV001970781] Chr12:6438478..8756953 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NC_000012.11:g.(?_6438478)_(8248686_?)dup duplication Temtamy syndrome [RCV003120743]|not provided [RCV001913769] Chr12:6438478..8248686 [GRCh37]
Chr12:12p13.31		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NC_000012.11:g.(?_6978008)_(9010204_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001877402] Chr12:6978008..9010204 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6438478)_(9027607_?)dup duplication not provided [RCV001943267] Chr12:6438478..9027607 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.579C>T (p.Asn193=) single nucleotide variant GDF3-related disorder [RCV003958561]|Klippel-Feil syndrome 3, autosomal dominant [RCV002204782] Chr12:7690394 [GRCh38]
Chr12:7842990 [GRCh37]
Chr12:12p13.31		 benign
NM_020634.3(GDF3):c.266A>G (p.Gln89Arg) single nucleotide variant not specified [RCV004306513] Chr12:7695463 [GRCh38]
Chr12:7848059 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.769A>G (p.Lys257Glu) single nucleotide variant not specified [RCV004333133] Chr12:7690204 [GRCh38]
Chr12:7842800 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_020634.3(GDF3):c.474G>T (p.Gln158His) single nucleotide variant not specified [RCV004074853] Chr12:7690499 [GRCh38]
Chr12:7843095 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.482C>T (p.Pro161Leu) single nucleotide variant not specified [RCV004154942] Chr12:7690491 [GRCh38]
Chr12:7843087 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.509G>A (p.Arg170Gln) single nucleotide variant not specified [RCV004239850] Chr12:7690464 [GRCh38]
Chr12:7843060 [GRCh37]
Chr12:12p13.31		 likely benign
NM_020634.3(GDF3):c.194G>C (p.Gly65Ala) single nucleotide variant not specified [RCV004237488] Chr12:7695535 [GRCh38]
Chr12:7848131 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.173G>A (p.Arg58His) single nucleotide variant not specified [RCV004212829] Chr12:7695556 [GRCh38]
Chr12:7848152 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.1057T>C (p.Tyr353His) single nucleotide variant not specified [RCV004085260] Chr12:7689916 [GRCh38]
Chr12:7842512 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.434T>C (p.Leu145Pro) single nucleotide variant Klippel-Feil syndrome 3, autosomal dominant [RCV002790042] Chr12:7690539 [GRCh38]
Chr12:7843135 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_020634.3(GDF3):c.1091G>C (p.Gly364Ala) single nucleotide variant not provided [RCV003154532] Chr12:7689882 [GRCh38]
Chr12:7842478 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.560C>T (p.Ala187Val) single nucleotide variant not specified [RCV004258438] Chr12:7690413 [GRCh38]
Chr12:7843009 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.896T>A (p.Phe299Tyr) single nucleotide variant not specified [RCV004280351] Chr12:7690077 [GRCh38]
Chr12:7842673 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.185C>G (p.Ala62Gly) single nucleotide variant not specified [RCV004349689] Chr12:7695544 [GRCh38]
Chr12:7848140 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.714C>T (p.Leu238=) single nucleotide variant not provided [RCV003396198] Chr12:7690259 [GRCh38]
Chr12:7842855 [GRCh37]
Chr12:12p13.31		 likely benign
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_020634.3(GDF3):c.1035del (p.Asn345fs) deletion not provided [RCV003441440] Chr12:7689938 [GRCh38]
Chr12:7842534 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.268+1G>A single nucleotide variant GDF3-related disorder [RCV003421166] Chr12:7695460 [GRCh38]
Chr12:7848056 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_020634.3(GDF3):c.288G>T (p.Lys96Asn) single nucleotide variant Klippel-Feil syndrome 3, autosomal dominant [RCV003984989] Chr12:7690685 [GRCh38]
Chr12:7843281 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.696C>A (p.Ser232=) single nucleotide variant GDF3-related disorder [RCV003964415] Chr12:7690277 [GRCh38]
Chr12:7842873 [GRCh37]
Chr12:12p13.31		 likely benign
NM_020634.3(GDF3):c.238G>A (p.Gly80Arg) single nucleotide variant not specified [RCV004387593] Chr12:7695491 [GRCh38]
Chr12:7848087 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.944C>T (p.Ala315Val) single nucleotide variant not specified [RCV004387594] Chr12:7690029 [GRCh38]
Chr12:7842625 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.149T>C (p.Ile50Thr) single nucleotide variant not specified [RCV004387591] Chr12:7695580 [GRCh38]
Chr12:7848176 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_020634.3(GDF3):c.203G>A (p.Arg68Gln) single nucleotide variant not specified [RCV004387592] Chr12:7695526 [GRCh38]
Chr12:7848122 [GRCh37]
Chr12:12p13.31		 likely benign
NC_000012.11:g.(?_7053285)_(9027607_?)del deletion Developmental and epileptic encephalopathy, 21 [RCV004578381]|Peroxisome biogenesis disorder 2B [RCV004578380] Chr12:7053285..9027607 [GRCh37]
Chr12:12p13.31		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:38
Count of miRNA genes:38
Interacting mature miRNAs:38
Transcripts:ENST00000329913
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH91884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,842,747 - 7,842,872UniSTSGRCh37
Build 36127,734,014 - 7,734,139RGDNCBI36
Celera129,419,758 - 9,419,883RGD
Cytogenetic Map12p13.1UniSTS
HuRef127,656,855 - 7,656,980UniSTS
GeneMap99-GB4 RH Map1243.35UniSTS
GDF3_670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,842,346 - 7,843,169UniSTSGRCh37
Build 36127,733,613 - 7,734,436RGDNCBI36
Celera129,419,357 - 9,420,180RGD
HuRef127,656,454 - 7,657,277UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1093 1703 1876 1561 2183 1256 1402 1 237 814 139 1702 4240 4342 7 1385 1 632 1365 1083 102 1

Sequence


Ensembl Acc Id: ENST00000329913   ⟹   ENSP00000331745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,689,784 - 7,695,775 (-)Ensembl
RefSeq Acc Id: NM_020634   ⟹   NP_065685
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,689,784 - 7,695,775 (-)NCBI
GRCh37127,842,381 - 7,848,360 (-)RGD
Build 36127,733,648 - 7,739,627 (-)NCBI Archive
Celera129,419,392 - 9,425,368 (-)RGD
HuRef127,656,489 - 7,662,465 (-)RGD
CHM1_1127,839,618 - 7,847,334 (-)NCBI
T2T-CHM13v2.0127,704,552 - 7,710,540 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_065685 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF91389 (Get FASTA)   NCBI Sequence Viewer  
  AAH30959 (Get FASTA)   NCBI Sequence Viewer  
  AAM27000 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89234 (Get FASTA)   NCBI Sequence Viewer  
  EAW88659 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000331745
  ENSP00000331745.3
GenBank Protein Q9NR23 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_065685   ⟸   NM_020634
- Peptide Label: preproprotein
- UniProtKB: Q8NEJ4 (UniProtKB/Swiss-Prot),   Q9NR23 (UniProtKB/Swiss-Prot),   Q8NI58 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000331745   ⟸   ENST00000329913
Protein Domains
TGF-beta family profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NR23-F1-model_v2 AlphaFold Q9NR23 1-364 view protein structure

Promoters
RGD ID:7223033
Promoter ID:EPDNEW_H17262
Type:initiation region
Name:GDF3_1
Description:growth differentiation factor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,695,775 - 7,695,835EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4218 AgrOrtholog
COSMIC GDF3 COSMIC
Ensembl Genes ENSG00000184344 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000329913 ENTREZGENE
  ENST00000329913.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot
  2.60.120.970 UniProtKB/Swiss-Prot
  Cystine-knot cytokines UniProtKB/TrEMBL
GTEx ENSG00000184344 GTEx
HGNC ID HGNC:4218 ENTREZGENE
Human Proteome Map GDF3 Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-beta-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9573 UniProtKB/Swiss-Prot
NCBI Gene 9573 ENTREZGENE
OMIM 606522 OMIM
PANTHER GROWTH/DIFFERENTIATION FACTOR 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11848 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TGF_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28633 PharmGKB
PRINTS INHIBINA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TGF_BETA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF_BETA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TGFB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Cystine-knot cytokines UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt GDF3_HUMAN UniProtKB/Swiss-Prot
  Q8NEJ4 ENTREZGENE
  Q8NI58 ENTREZGENE, UniProtKB/TrEMBL
  Q9NR23 ENTREZGENE
UniProt Secondary Q8NEJ4 UniProtKB/Swiss-Prot