NOG (noggin) - Rat Genome Database

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Gene: NOG (noggin) Homo sapiens
Analyze
Symbol: NOG
Name: noggin
RGD ID: 735776
HGNC Page HGNC
Description: Enables cytokine binding activity and protein homodimerization activity. Involved in several processes, including embryonic morphogenesis; regionalization; and regulation of signal transduction. Located in extracellular space. Implicated in Huntington's disease; cleft lip; dysostosis (multiple); hyperopia; and proximal symphalangism (multiple). Biomarker of relapsing-remitting multiple sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: SYM1; symphalangism 1 (proximal); SYNS1; SYNS1A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381756,593,699 - 56,595,611 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1756,593,699 - 56,595,611 (+)EnsemblGRCh38hg38GRCh38
GRCh371754,671,060 - 54,672,972 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361752,026,274 - 52,027,546 (+)NCBINCBI36hg18NCBI36
Build 341752,026,273 - 52,027,542NCBI
Celera1751,132,757 - 51,134,648 (+)NCBI
Cytogenetic Map17q22NCBI
HuRef1750,031,838 - 50,033,727 (+)NCBIHuRef
CHM1_11754,735,932 - 54,737,820 (+)NCBICHM1_1
T2T-CHM13v2.01757,469,821 - 57,471,732 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(20S)-ginsenoside Rg3  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3',5'-cyclic AMP  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-fluorouracil  (ISO)
acetic acid  (ISO)
acrylamide  (EXP)
all-trans-retinoic acid  (EXP)
amitriptyline  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bromochloroacetic acid  (ISO)
butanal  (EXP)
chloroprene  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
entinostat  (EXP)
folic acid  (ISO)
furan  (ISO)
glycerol 2-phosphate  (ISO)
icariin  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
maneb  (ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
mercury dichloride  (EXP)
methotrexate  (ISO)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
neomycin  (ISO)
nickel atom  (EXP)
octreotide  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
pasireotide  (ISO)
pentane-2,3-dione  (ISO)
phenethyl caffeate  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
Salidroside  (ISO)
SB 431542  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP)
sulforaphane  (EXP)
testosterone  (ISO)
thimerosal  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure formation involved in morphogenesis  (IEA,ISO)
atrial cardiac muscle tissue morphogenesis  (IEA,ISS)
axial mesoderm development  (IEA,ISO)
axon guidance  (IEA,ISO)
BMP signaling pathway  (IEA,ISO)
BMP signaling pathway involved in heart development  (IEA,ISS)
brain development  (IEA,ISO)
cartilage development  (IEA,ISO)
cell differentiation  (IEA)
cell differentiation in hindbrain  (IMP)
cell population proliferation  (IEA)
cellular response to BMP stimulus  (IEA,ISO)
cellular response to hypoxia  (ISO)
central nervous system development  (IEA,ISO)
cranial skeletal system development  (IEA)
dorsal/ventral pattern formation  (IBA,IDA)
embryonic digit morphogenesis  (IMP)
embryonic skeletal joint morphogenesis  (IMP)
embryonic skeletal system development  (IMP)
endocardial cushion morphogenesis  (IEA,ISS)
endoderm development  (IEA,ISO)
endoderm formation  (IEA,ISO)
epithelial cell proliferation  (IEA,ISO)
epithelial to mesenchymal transition  (IEA,ISS)
exploration behavior  (IEA)
face morphogenesis  (IEA,ISO)
fibroblast growth factor receptor signaling pathway  (IEA)
fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation  (IMP)
forebrain development  (IEA,ISO)
heart trabecula morphogenesis  (IEA,ISS)
hippocampus development  (ISO)
in utero embryonic development  (IEA,ISO)
limb development  (IMP)
long-term synaptic potentiation  (IEA)
lung morphogenesis  (IEA,ISO)
membranous septum morphogenesis  (IEA,ISS)
memory  (ISO)
mesenchymal cell differentiation  (IEA,ISO)
mesoderm formation  (IEA,ISO)
middle ear morphogenesis  (IMP)
motor neuron axon guidance  (IEA,ISO)
negative regulation of apoptotic signaling pathway  (IEA,ISO)
negative regulation of astrocyte differentiation  (IEA,ISO,ISS)
negative regulation of BMP signaling pathway  (IBA,IDA,IEA,ISO,ISS)
negative regulation of canonical Wnt signaling pathway  (IDA)
negative regulation of cardiac muscle cell proliferation  (IEA,ISS)
negative regulation of cartilage development  (IEA,ISO)
negative regulation of cell differentiation  (IEA)
negative regulation of cell migration  (IDA)
negative regulation of cytokine activity  (IDA)
negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation  (IEA,ISS)
negative regulation of gene expression  (IEA,ISO)
negative regulation of osteoblast differentiation  (IDA)
negative regulation of pathway-restricted SMAD protein phosphorylation  (IDA,IEA,ISS)
negative regulation of transcription by RNA polymerase II  (IEA,ISS)
nervous system development  (TAS)
neural plate morphogenesis  (IEA,ISO)
neural tube closure  (IEA,ISO)
neural tube development  (IEA,ISO)
notochord morphogenesis  (IEA,ISO)
ossification  (ISO)
osteoblast differentiation  (IBA,IEA,ISS)
outflow tract morphogenesis  (IEA,ISS)
pattern specification process  (IEA,ISO)
pharyngeal arch artery morphogenesis  (IEA,ISS)
pituitary gland development  (IEA,ISO)
positive regulation of branching involved in ureteric bud morphogenesis  (IEA,ISS)
positive regulation of cell population proliferation  (ISO)
positive regulation of epithelial cell proliferation  (IEA,ISO)
positive regulation of gene expression  (IEA,ISS)
positive regulation of glomerulus development  (IEA,ISS)
positive regulation of oligodendrocyte progenitor proliferation  (ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISO)
presynaptic modulation of chemical synaptic transmission  (IEA)
prostatic bud formation  (IEA,ISO)
regulation of BMP signaling pathway  (IEA,ISO)
regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation  (IMP)
regulation of neuronal synaptic plasticity  (IEA)
short-term synaptic potentiation  (IEA)
skeletal system development  (IEA,ISO,TAS)
smoothened signaling pathway  (IEA)
somatic stem cell population maintenance  (IMP)
somite development  (IEA,ISO)
specification of segmental identity, mandibular segment  (ISO)
spinal cord development  (IEA,ISO)
stem cell differentiation  (IEA,ISO)
ureteric bud development  (IEA,ISO)
ureteric bud formation  (IEA)
urogenital system development  (IEA,ISO)
ventricular compact myocardium morphogenesis  (IEA,ISS)
ventricular septum morphogenesis  (IEA,ISS)
visual learning  (IEA,ISO)
wound healing  (IEA,ISO,ISS)

Cellular Component
axon  (ISO)
extracellular region  (IEA,TAS)
extracellular space  (IBA,IDA,IEA,ISO,TAS)
presynapse  (IEA)
protein-containing complex  (ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormality of the ankles  (IAGP)
Abnormality of the nail  (IAGP)
Absent distal phalanges  (IAGP)
Absent fingernail  (IAGP)
Absent phalangeal crease  (IAGP)
Absent proximal finger flexion creases  (IAGP)
Agenesis of cerebellar vermis  (IAGP)
Amblyopia  (IAGP)
Anonychia  (IAGP)
Aplasia/Hypoplasia of the distal phalanges of the hand  (IAGP)
Aplasia/Hypoplasia of the distal phalanges of the toes  (IAGP)
Aplasia/Hypoplasia of the middle phalanges of the hand  (IAGP)
Aplasia/Hypoplasia of the middle phalanges of the toes  (IAGP)
Aplasia/Hypoplasia of the nails  (IAGP)
Aplastic/hypoplastic toenail  (IAGP)
Astigmatism  (IAGP)
Asymmetry of the mouth  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral conductive hearing impairment  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Brachydactyly  (IAGP)
Broad hallux  (IAGP)
Broad thumb  (IAGP)
Camptodactyly of finger  (IAGP)
Carpal synostosis  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 4th toe  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Conductive hearing impairment  (IAGP)
Cone-shaped epiphysis  (IAGP)
Congenital onset  (IAGP)
Congenital stapes ankylosis  (IAGP)
Cubitus valgus  (IAGP)
Cutaneous finger syndactyly  (IAGP)
Cutaneous syndactyly of toes  (IAGP)
Dislocated radial head  (IAGP)
Distal symphalangism of hands  (IAGP)
Elbow ankylosis  (IAGP)
Elbow dislocation  (IAGP)
Enlargement of the costochondral junction  (IAGP)
Facial asymmetry  (IAGP)
Finger syndactyly  (IAGP)
Fused cervical vertebrae  (IAGP)
Hearing abnormality  (IAGP)
Humeroradial synostosis  (IAGP)
Hypermetropia  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypoplastic nasal septum  (IAGP)
Hypoplastic spinal processes  (IAGP)
Joint stiffness  (IAGP)
Limited neck range of motion  (IAGP)
Long nose  (IAGP)
Low hanging columella  (IAGP)
Lower limb undergrowth  (IAGP)
Metacarpophalangeal synostosis  (IAGP)
Narrow face  (IAGP)
Pectus excavatum  (IAGP)
Progressive conductive hearing impairment  (IAGP)
Progressive fusion 2nd-5th pip joints  (IAGP)
Proximal placement of thumb  (IAGP)
Proximal symphalangism  (IAGP)
Proximal symphalangism of hands  (IAGP)
Proximal/middle symphalangism of 4th finger  (IAGP)
Proximal/middle symphalangism of 4th toe  (IAGP)
Proximal/middle symphalangism of 5th finger  (IAGP)
Proximal/middle symphalangism of 5th toe  (IAGP)
Ptosis  (IAGP)
Radial deviation of finger  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short 1st metacarpal  (IAGP)
Short 5th metacarpal  (IAGP)
Short distal phalanx of finger  (IAGP)
Short distal phalanx of toe  (IAGP)
Short finger  (IAGP)
Short foot  (IAGP)
Short hallux  (IAGP)
Short humerus  (IAGP)
Short lower limbs  (IAGP)
Short middle phalanx of the 4th finger  (IAGP)
Short middle phalanx of the 5th finger  (IAGP)
Short middle phalanx of the 5th toe  (IAGP)
Short palm  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Short sternum  (IAGP)
Single transverse palmar crease  (IAGP)
Spinal canal stenosis  (IAGP)
Stapes ankylosis  (IAGP)
Strabismus  (IAGP)
Symphalangism affecting the phalanges of the hand  (IAGP)
Synostosis of carpal bones  (IAGP)
Tarsal synostosis  (IAGP)
Thick upper lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Toe syndactyly  (IAGP)
Type B brachydactyly  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upslanted palpebral fissure  (IAGP)
Waddling gait  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
1. Bostrom KI, etal., Circ Res. 2011 Feb 18;108(4):446-57. doi: 10.1161/CIRCRESAHA.110.236596. Epub 2010 Dec 30.
2. Cho SR, etal., J Clin Invest. 2007 Oct;117(10):2889-902.
3. Declau F, etal., Otol Neurotol. 2005 Sep;26(5):934-40.
4. GOA_HUMAN data from the GO Consortium
5. Gong Y, etal., Nat Genet. 1999 Mar;21(3):302-4.
6. GutiƩrrez SJ, etal., Acta Odontol Latinoam. 2010;23(1):13-9.
7. Hampton DW, etal., Exp Neurol. 2007 Mar;204(1):366-79. Epub 2006 Dec 22.
8. Hwang CH and Wu DK, Hum Mol Genet. 2008 Mar 15;17(6):844-53. Epub 2007 Dec 20.
9. Ishino T, etal., Eur J Med Genet. 2015 Sep;58(9):427-32. doi: 10.1016/j.ejmg.2015.06.005. Epub 2015 Jul 26.
10. Lehmann K, etal., Am J Hum Genet. 2007 Aug;81(2):388-96. Epub 2007 Jun 8.
11. Leslie EJ, etal., Am J Hum Genet. 2015 Mar 5;96(3):397-411. doi: 10.1016/j.ajhg.2015.01.004. Epub 2015 Feb 19.
12. Li Y, etal., Dev Dyn. 2007 Mar;236(3):746-54.
13. Liu F, etal., Clin Chim Acta. 2014 Feb 15;429:129-33. doi: 10.1016/j.cca.2013.12.004. Epub 2013 Dec 8.
14. Matsuura I, etal., J Neurochem. 2008 May;105(4):1471-9. doi: 10.1111/j.1471-4159.2008.05251.x. Epub 2008 Jan 24.
15. OMIM Disease Annotation Pipeline
16. Paez-Pereda M, etal., Proc Natl Acad Sci U S A 2003 Feb 4;100(3):1034-9.
17. Pipeline to import KEGG annotations from KEGG into RGD
18. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
19. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. RGD automated import pipeline for gene-chemical interactions
21. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Shen K, etal., Orthod Craniofac Res. 2009 Aug;12(3):254-62. doi: 10.1111/j.1601-6343.2009.01460.x.
23. Song T, etal., Am J Med Genet A. 2015 Jan;167A(1):137-41. doi: 10.1002/ajmg.a.36802. Epub 2014 Oct 22.
24. Takahashi T, etal., Clin Genet. 2001 Dec;60(6):447-51.
25. Tang J, etal., Biochem Biophys Res Commun. 2009 Jul 31;385(3):341-5. doi: 10.1016/j.bbrc.2009.05.067. Epub 2009 May 20.
26. Urshansky N, etal., J Neuroimmunol. 2011 Mar;232(1-2):171-8. doi: 10.1016/j.jneuroim.2010.10.007. Epub 2010 Nov 26.
27. Valenzuela DM, etal., J Neurosci 1995 Sep;15(9):6077-84.
28. Villanueva S, etal., Am J Physiol Regul Integr Comp Physiol. 2006 Apr;290(4):R861-70. Epub 2005 Nov 10.
29. Wu XB, etal., J Clin Invest. 2003 Sep;112(6):924-34.
30. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
31. Yang K, etal., Am J Physiol Cell Physiol. 2015 Jun 1;308(11):C869-78. doi: 10.1152/ajpcell.00349.2014. Epub 2015 Mar 4.
32. Zimmer J, etal., PLoS One. 2012;7(4):e35062. doi: 10.1371/journal.pone.0035062. Epub 2012 Apr 18.
Additional References at PubMed
PMID:7557985   PMID:8582276   PMID:8752214   PMID:9585504   PMID:9603738   PMID:9634519   PMID:10087923   PMID:10657699   PMID:10780858   PMID:11545688   PMID:11562478   PMID:11580864  
PMID:11706034   PMID:11857750   PMID:12089654   PMID:12115893   PMID:12404109   PMID:12477932   PMID:12478285   PMID:12621334   PMID:14999064   PMID:15064755   PMID:15264296   PMID:15489334  
PMID:15539560   PMID:15621726   PMID:15756420   PMID:16126463   PMID:16532400   PMID:17029022   PMID:17138967   PMID:17200191   PMID:17218603   PMID:17696196   PMID:17889703   PMID:18019378  
PMID:18204269   PMID:18391951   PMID:18537141   PMID:18560367   PMID:18931653   PMID:19023570   PMID:19058174   PMID:19167531   PMID:19400542   PMID:19453261   PMID:19597895   PMID:19692649  
PMID:19700758   PMID:19804412   PMID:20023658   PMID:20048150   PMID:20503332   PMID:20546612   PMID:20675382   PMID:20734064   PMID:20881960   PMID:21249149   PMID:21873635   PMID:21976273  
PMID:22083168   PMID:22288654   PMID:22364398   PMID:22503063   PMID:22547073   PMID:22621191   PMID:22628200   PMID:22740073   PMID:23483047   PMID:23732071   PMID:23826422   PMID:23936387  
PMID:24098149   PMID:24170657   PMID:24529757   PMID:24706492   PMID:24735539   PMID:25391606   PMID:25888563   PMID:26383864   PMID:26413886   PMID:26643732   PMID:26994744   PMID:28398705  
PMID:28700943   PMID:28981962   PMID:29159868   PMID:29605356   PMID:30665323   PMID:30887565   PMID:31370824   PMID:31694554   PMID:31904417   PMID:32259393   PMID:32427591   PMID:32705152  
PMID:33308208   PMID:33961781   PMID:34001012   PMID:34051144  


Genomics

Comparative Map Data
NOG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381756,593,699 - 56,595,611 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1756,593,699 - 56,595,611 (+)EnsemblGRCh38hg38GRCh38
GRCh371754,671,060 - 54,672,972 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361752,026,274 - 52,027,546 (+)NCBINCBI36hg18NCBI36
Build 341752,026,273 - 52,027,542NCBI
Celera1751,132,757 - 51,134,648 (+)NCBI
Cytogenetic Map17q22NCBI
HuRef1750,031,838 - 50,033,727 (+)NCBIHuRef
CHM1_11754,735,932 - 54,737,820 (+)NCBICHM1_1
T2T-CHM13v2.01757,469,821 - 57,471,732 (+)NCBI
Nog
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391189,191,464 - 89,193,385 (-)NCBIGRCm39mm39
GRCm39 Ensembl1189,191,464 - 89,193,158 (-)Ensembl
GRCm381189,300,638 - 89,302,559 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1189,300,638 - 89,302,332 (-)EnsemblGRCm38mm10GRCm38
MGSCv371189,161,952 - 89,163,873 (-)NCBIGRCm37mm9NCBIm37
MGSCv361189,117,412 - 89,118,110 (-)NCBImm8
Celera1198,919,523 - 98,921,373 (-)NCBICelera
Cytogenetic Map11CNCBI
cM Map1154.34NCBI
Nog
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21074,128,712 - 74,130,339 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1074,128,712 - 74,130,339 (-)Ensembl
Rnor_6.01076,811,759 - 76,813,386 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1076,811,759 - 76,813,386 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01076,677,612 - 76,679,239 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41077,689,244 - 77,690,871 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11077,703,801 - 77,704,728 (-)NCBI
Celera1073,029,127 - 73,030,754 (-)NCBICelera
Cytogenetic Map10q26NCBI
Nog
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554516,193,042 - 6,193,740 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554516,192,368 - 6,193,766 (-)NCBIChiLan1.0ChiLan1.0
NOG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11755,532,208 - 55,533,782 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1755,532,394 - 55,533,092 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01750,669,186 - 50,671,081 (+)NCBIMhudiblu_PPA_v0panPan3
NOG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1931,453,604 - 31,456,060 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha930,695,378 - 30,696,228 (+)NCBI
ROS_Cfam_1.0932,262,855 - 32,263,712 (+)NCBI
ROS_Cfam_1.0 Ensembl932,262,940 - 32,263,663 (+)Ensembl
UMICH_Zoey_3.1931,048,413 - 31,049,269 (+)NCBI
UNSW_CanFamBas_1.0931,332,204 - 31,333,060 (+)NCBI
UU_Cfam_GSD_1.0931,415,982 - 31,416,833 (+)NCBI
Nog
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560230,811,040 - 30,812,486 (+)NCBI
SpeTri2.0NW_0049364906,262,651 - 6,264,069 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NOG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1232,891,321 - 32,892,206 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11232,891,321 - 32,892,206 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NOG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11636,816,783 - 36,818,693 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1636,817,476 - 36,818,174 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660777,642,384 - 7,644,356 (-)NCBIVero_WHO_p1.0
Nog
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479511,696,353 - 11,697,051 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462479511,696,102 - 11,697,367 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
Nog  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371754,671,663 - 54,672,023UniSTSGRCh37
Build 361752,026,662 - 52,027,022RGDNCBI36
Celera1751,133,360 - 51,133,720RGD
HuRef1750,032,441 - 50,032,801UniSTS
PMC316831P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371754,671,583 - 54,671,794UniSTSGRCh37
Build 361752,026,582 - 52,026,793RGDNCBI36
Celera1751,133,280 - 51,133,491RGD
Cytogenetic Map17q22UniSTS
HuRef1750,032,361 - 50,032,572UniSTS
NOG_2549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371754,671,940 - 54,672,641UniSTSGRCh37
Build 361752,026,939 - 52,027,640RGDNCBI36
Celera1751,133,637 - 51,134,338RGD
HuRef1750,032,718 - 50,033,417UniSTS
RH66786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371754,672,111 - 54,672,268UniSTSGRCh37
Build 361752,027,110 - 52,027,267RGDNCBI36
Celera1751,133,808 - 51,133,965RGD
Cytogenetic Map17q22UniSTS
HuRef1750,032,889 - 50,033,046UniSTS
GeneMap99-GB4 RH Map17367.95UniSTS
MARC_53900-53901:1151606073:5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371754,671,939 - 54,672,437UniSTSGRCh37
Celera1751,133,636 - 51,134,134UniSTS
HuRef1750,032,717 - 50,033,213UniSTS
UniSTS:495034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371754,671,521 - 54,672,332UniSTSGRCh37
Celera1751,133,218 - 51,134,029UniSTS
HuRef1750,032,299 - 50,033,110UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR148Bhsa-miR-148b-3pMirecordsexternal_infoNANA21205300

Predicted Target Of
Summary Value
Count of predictions:332
Count of miRNA genes:256
Interacting mature miRNAs:300
Transcripts:ENST00000332822
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 14 25 19 7 29 8 232 46 306 23 80 54 1 5 222 2
Low 1390 1576 728 102 508 33 2749 1490 3026 190 977 1217 79 1 598 2115 1
Below cutoff 915 1258 737 312 784 224 1309 609 379 169 317 297 91 583 447 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000332822   ⟹   ENSP00000328181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1756,593,699 - 56,595,611 (+)Ensembl
RefSeq Acc Id: NM_005450   ⟹   NP_005441
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,593,699 - 56,595,611 (+)NCBI
GRCh371754,671,060 - 54,672,951 (+)ENTREZGENE
Build 361752,026,274 - 52,027,546 (+)NCBI Archive
HuRef1750,031,838 - 50,033,727 (+)ENTREZGENE
CHM1_11754,735,932 - 54,737,820 (+)NCBI
T2T-CHM13v2.01757,469,821 - 57,471,732 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005441   ⟸   NM_005450
- Peptide Label: precursor
- UniProtKB: Q13253 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000328181   ⟸   ENST00000332822

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13253-F1-model_v2 AlphaFold Q13253 1-232 view protein structure


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005450.6(NOG):c.696C>G (p.Cys232Trp) single nucleotide variant Symphalangism-brachydactyly syndrome [RCV000023225] Chr17:56594919 [GRCh38]
Chr17:54672280 [GRCh37]
Chr17:17q22
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
NM_005450.6(NOG):c.665A>G (p.Tyr222Cys) single nucleotide variant Proximal symphalangism 1A [RCV000007079]|Tarsal-carpal coalition syndrome [RCV000007087] Chr17:56594888 [GRCh38]
Chr17:54672249 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.664T>G (p.Tyr222Asp) single nucleotide variant Proximal symphalangism 1A [RCV000007080] Chr17:56594887 [GRCh38]
Chr17:54672248 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.649T>G (p.Trp217Gly) single nucleotide variant Symphalangism-brachydactyly syndrome [RCV000007081] Chr17:56594872 [GRCh38]
Chr17:54672233 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.668C>T (p.Pro223Leu) single nucleotide variant Proximal symphalangism 1A [RCV000007082] Chr17:56594891 [GRCh38]
Chr17:54672252 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.565G>T (p.Gly189Cys) single nucleotide variant Proximal symphalangism 1A [RCV000007083] Chr17:56594788 [GRCh38]
Chr17:54672149 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.611G>T (p.Arg204Leu) single nucleotide variant Tarsal-carpal coalition syndrome [RCV000007084] Chr17:56594834 [GRCh38]
Chr17:54672195 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.104C>G (p.Pro35Arg) single nucleotide variant Proximal symphalangism 1A [RCV000049267]|Tarsal-carpal coalition syndrome [RCV000007085] Chr17:56594327 [GRCh38]
Chr17:54671688 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.551G>A (p.Cys184Tyr) single nucleotide variant Proximal symphalangism 1A [RCV000007089] Chr17:56594774 [GRCh38]
Chr17:54672135 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.386T>A (p.Leu129Ter) single nucleotide variant Proximal symphalangism 1A [RCV000007090] Chr17:56594609 [GRCh38]
Chr17:54671970 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.58del (p.Leu20fs) deletion Symphalangism-brachydactyly syndrome [RCV000007091] Chr17:56594281 [GRCh38]
Chr17:54671642 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.499C>G (p.Arg167Gly) single nucleotide variant Brachydactyly type B2 [RCV000007092] Chr17:56594722 [GRCh38]
Chr17:54672083 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.103C>T (p.Pro35Ser) single nucleotide variant Brachydactyly type B2 [RCV000007094]|Proximal symphalangism 1A [RCV000007093]|Stapes ankylosis with broad thumbs and toes [RCV000579390] Chr17:56594326 [GRCh38]
Chr17:54671687 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.328C>T (p.Gln110Ter) single nucleotide variant Stapes ankylosis with broad thumbs and toes [RCV000007096] Chr17:56594551 [GRCh38]
Chr17:54671912 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.252dup (p.Glu85fs) duplication Stapes ankylosis with broad thumbs and toes [RCV000007097] Chr17:56594469..56594470 [GRCh38]
Chr17:54671830..54671831 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.614G>A (p.Trp205Ter) single nucleotide variant Symphalangism-brachydactyly syndrome [RCV000007098] Chr17:56594837 [GRCh38]
Chr17:54672198 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.615G>C (p.Trp205Cys) single nucleotide variant Symphalangism-brachydactyly syndrome [RCV000007099] Chr17:56594838 [GRCh38]
Chr17:54672199 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.103C>G (p.Pro35Ala) single nucleotide variant Brachydactyly type B2 [RCV000007100] Chr17:56594326 [GRCh38]
Chr17:54671687 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.554C>G (p.Ser185Cys) single nucleotide variant Proximal symphalangism 1A [RCV001526526] Chr17:56594777 [GRCh38]
Chr17:54672138 [GRCh37]
Chr17:17q22
likely pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 copy number loss See cases [RCV000053433] Chr17:49974533..56807609 [GRCh38]
Chr17:48051897..54884970 [GRCh37]
Chr17:45406896..52239969 [NCBI36]
Chr17:17q21.33-22
pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
NM_005450.6(NOG):c.296A>G (p.Glu99Gly) single nucleotide variant not provided [RCV000521110] Chr17:56594519 [GRCh38]
Chr17:54671880 [GRCh37]
Chr17:17q22
uncertain significance
Single allele deletion Stapes ankylosis with broad thumbs and toes [RCV001268958] Chr17:54290100..54844894 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.68C>T (p.Thr23Ile) single nucleotide variant not provided [RCV000904754]|not specified [RCV000598147] Chr17:56594291 [GRCh38]
Chr17:54671652 [GRCh37]
Chr17:17q22
benign
NM_005450.6(NOG):c.272G>A (p.Gly91Asp) single nucleotide variant not provided [RCV000593322] Chr17:56594495 [GRCh38]
Chr17:54671856 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.599T>C (p.Leu200Pro) single nucleotide variant Proximal symphalangism 1A [RCV000735694] Chr17:56594822 [GRCh38]
Chr17:54672183 [GRCh37]
Chr17:17q22
likely pathogenic
NM_005450.6(NOG):c.611G>A (p.Arg204Gln) single nucleotide variant Brachydactyly type B2 [RCV001254352]|Tarsal-carpal coalition syndrome [RCV000416327] Chr17:56594834 [GRCh38]
Chr17:54672195 [GRCh37]
Chr17:17q22
likely pathogenic
NM_005450.6(NOG):c.251C>A (p.Pro84His) single nucleotide variant not provided [RCV000513782] Chr17:56594474 [GRCh38]
Chr17:54671835 [GRCh37]
Chr17:17q22
benign|likely benign
NM_005450.6(NOG):c.275G>A (p.Gly92Glu) single nucleotide variant not provided [RCV000429229]|not specified [RCV000455908] Chr17:56594498 [GRCh38]
Chr17:54671859 [GRCh37]
Chr17:17q22
likely benign|uncertain significance
GRCh37/hg19 17q22(chr17:52189051-57477162)x3 copy number gain See cases [RCV000448801] Chr17:52189051..57477162 [GRCh37]
Chr17:17q22
pathogenic
GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3 copy number gain See cases [RCV000448805] Chr17:49076980..58740945 [GRCh37]
Chr17:17q21.33-23.2
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
NM_005450.6(NOG):c.125C>T (p.Pro42Leu) single nucleotide variant not provided [RCV000480013] Chr17:56594348 [GRCh38]
Chr17:54671709 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.340G>A (p.Gly114Arg) single nucleotide variant not provided [RCV000486797] Chr17:56594563 [GRCh38]
Chr17:54671924 [GRCh37]
Chr17:17q22
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q22(chr17:54584318-55220914)x1 copy number loss not provided [RCV000683944] Chr17:54584318..55220914 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.122T>G (p.Leu41Arg) single nucleotide variant not provided [RCV001565977] Chr17:56594345 [GRCh38]
Chr17:54671706 [GRCh37]
Chr17:17q22
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_005450.6(NOG):c.582G>A (p.Pro194=) single nucleotide variant not provided [RCV000949824] Chr17:56594805 [GRCh38]
Chr17:54672166 [GRCh37]
Chr17:17q22
benign|likely benign
NM_005450.6(NOG):c.267C>A (p.Gly89=) single nucleotide variant not provided [RCV000929910] Chr17:56594490 [GRCh38]
Chr17:54671851 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.509C>T (p.Pro170Leu) single nucleotide variant not provided [RCV001559865] Chr17:56594732 [GRCh38]
Chr17:54672093 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.603G>A (p.Thr201=) single nucleotide variant not provided [RCV000931688] Chr17:56594826 [GRCh38]
Chr17:54672187 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.509C>G (p.Pro170Arg) single nucleotide variant not specified [RCV001192755] Chr17:56594732 [GRCh38]
Chr17:54672093 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.591C>G (p.Ser197=) single nucleotide variant not provided [RCV000891301] Chr17:56594814 [GRCh38]
Chr17:54672175 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.*135del deletion not provided [RCV001537373] Chr17:56595032 [GRCh38]
Chr17:54672393 [GRCh37]
Chr17:17q22
benign
NM_005450.6(NOG):c.41T>C (p.Leu14Pro) single nucleotide variant NOG-related-symphlangism spectrum disorder [RCV001528101] Chr17:56594264 [GRCh38]
Chr17:54671625 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.-73G>A single nucleotide variant not provided [RCV001673502] Chr17:56594151 [GRCh38]
Chr17:54671512 [GRCh37]
Chr17:17q22
benign
NM_005450.6(NOG):c.*133_*135del deletion not provided [RCV001598721] Chr17:56595032..56595034 [GRCh38]
Chr17:54672393..54672395 [GRCh37]
Chr17:17q22
benign
NM_005450.6(NOG):c.*134_*135del deletion not provided [RCV001695565] Chr17:56595032..56595033 [GRCh38]
Chr17:54672393..54672394 [GRCh37]
Chr17:17q22
benign
NM_005450.6(NOG):c.64dup (p.Ala22fs) duplication Symphalangism-brachydactyly syndrome [RCV001027730] Chr17:56594284..56594285 [GRCh38]
Chr17:54671645..54671646 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.691T>C (p.Ser231Pro) single nucleotide variant not provided [RCV001091452] Chr17:56594914 [GRCh38]
Chr17:54672275 [GRCh37]
Chr17:17q22
uncertain significance
GRCh37/hg19 17q22(chr17:54664412-54705223)x1 copy number loss not provided [RCV001259898] Chr17:54664412..54705223 [GRCh37]
Chr17:17q22
likely pathogenic
NM_005450.6(NOG):c.358del (p.Ile120fs) deletion Inborn genetic diseases [RCV001266897] Chr17:56594581 [GRCh38]
Chr17:54671942 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.4G>T (p.Glu2Ter) single nucleotide variant Inborn genetic diseases [RCV001267418] Chr17:56594227 [GRCh38]
Chr17:54671588 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.615G>A (p.Trp205Ter) single nucleotide variant Inborn genetic diseases [RCV001267489] Chr17:56594838 [GRCh38]
Chr17:54672199 [GRCh37]
Chr17:17q22
likely pathogenic
NM_005450.6(NOG):c.-385C>A single nucleotide variant not provided [RCV001617011] Chr17:56593839 [GRCh38]
Chr17:54671200 [GRCh37]
Chr17:17q22
benign
NM_005450.6(NOG):c.379G>T (p.Glu127Ter) single nucleotide variant Brachydactyly type B2 [RCV001730032]|not provided [RCV001861027] Chr17:56594602 [GRCh38]
Chr17:54671963 [GRCh37]
Chr17:17q22
pathogenic|likely pathogenic
NM_005450.6(NOG):c.500G>A (p.Arg167His) single nucleotide variant not provided [RCV001772515] Chr17:56594723 [GRCh38]
Chr17:54672084 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.136C>T (p.Leu46Phe) single nucleotide variant not provided [RCV001773933] Chr17:56594359 [GRCh38]
Chr17:54671720 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.208C>T (p.Leu70Phe) single nucleotide variant not provided [RCV002025563] Chr17:56594431 [GRCh38]
Chr17:54671792 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.413G>A (p.Ser138Asn) single nucleotide variant not provided [RCV001873981] Chr17:56594636 [GRCh38]
Chr17:54671997 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.214G>A (p.Gly72Ser) single nucleotide variant not provided [RCV002025494] Chr17:56594437 [GRCh38]
Chr17:54671798 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.353G>A (p.Ser118Asn) single nucleotide variant not provided [RCV001864397] Chr17:56594576 [GRCh38]
Chr17:54671937 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.142G>A (p.Glu48Lys) single nucleotide variant not provided [RCV001872920] Chr17:56594365 [GRCh38]
Chr17:54671726 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.635_636delinsT (p.Gly212fs) indel NOG-related disorders [RCV001842239] Chr17:56594858..56594859 [GRCh38]
Chr17:54672219..54672220 [GRCh37]
Chr17:17q22
pathogenic
NM_005450.6(NOG):c.109C>T (p.Pro37Ser) single nucleotide variant not provided [RCV001948694] Chr17:56594332 [GRCh38]
Chr17:54671693 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.180T>C (p.Asp60=) single nucleotide variant not provided [RCV001908424] Chr17:56594403 [GRCh38]
Chr17:54671764 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.173A>G (p.Glu58Gly) single nucleotide variant not provided [RCV002011644] Chr17:56594396 [GRCh38]
Chr17:54671757 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.248C>A (p.Pro83His) single nucleotide variant not provided [RCV001902537] Chr17:56594471 [GRCh38]
Chr17:54671832 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.308A>T (p.Glu103Val) single nucleotide variant not provided [RCV002010848] Chr17:56594531 [GRCh38]
Chr17:54671892 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.219C>G (p.His73Gln) single nucleotide variant not provided [RCV001870011] Chr17:56594442 [GRCh38]
Chr17:54671803 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.266G>A (p.Gly89Asp) single nucleotide variant not provided [RCV001951829] Chr17:56594489 [GRCh38]
Chr17:54671850 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.286G>A (p.Gly96Arg) single nucleotide variant not provided [RCV001978716] Chr17:56594509 [GRCh38]
Chr17:54671870 [GRCh37]
Chr17:17q22
uncertain significance
NC_000017.10:g.(?_54671585)_(59938900_?)dup duplication Joubert syndrome [RCV001923071] Chr17:54671585..59938900 [GRCh37]
Chr17:17q22-23.2
uncertain significance
NM_005450.6(NOG):c.355G>T (p.Glu119Ter) single nucleotide variant not provided [RCV002028116] Chr17:56594578 [GRCh38]
Chr17:54671939 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.260G>C (p.Arg87Pro) single nucleotide variant not provided [RCV001930475] Chr17:56594483 [GRCh38]
Chr17:54671844 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.290G>A (p.Gly97Asp) single nucleotide variant not provided [RCV001917245] Chr17:56594513 [GRCh38]
Chr17:54671874 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.655C>A (p.Pro219Thr) single nucleotide variant not provided [RCV002030319] Chr17:56594878 [GRCh38]
Chr17:54672239 [GRCh37]
Chr17:17q22
uncertain significance
NM_005450.6(NOG):c.618C>T (p.Arg206=) single nucleotide variant not provided [RCV002109021] Chr17:56594841 [GRCh38]
Chr17:54672202 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.70C>T (p.Pro24Ser) single nucleotide variant not provided [RCV002132468] Chr17:56594293 [GRCh38]
Chr17:54671654 [GRCh37]
Chr17:17q22
benign
NM_005450.6(NOG):c.426G>A (p.Arg142=) single nucleotide variant not provided [RCV002111137] Chr17:56594649 [GRCh38]
Chr17:54672010 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.678C>T (p.Ser226=) single nucleotide variant not provided [RCV002077829] Chr17:56594901 [GRCh38]
Chr17:54672262 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.264C>T (p.Pro88=) single nucleotide variant not provided [RCV002090587] Chr17:56594487 [GRCh38]
Chr17:54671848 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.153C>T (p.Asp51=) single nucleotide variant not provided [RCV002211603] Chr17:56594376 [GRCh38]
Chr17:54671737 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.363A>G (p.Lys121=) single nucleotide variant not provided [RCV002096278] Chr17:56594586 [GRCh38]
Chr17:54671947 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.396C>A (p.Gly132=) single nucleotide variant not provided [RCV002177023] Chr17:56594619 [GRCh38]
Chr17:54671980 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.6G>A (p.Glu2=) single nucleotide variant not provided [RCV002082898] Chr17:56594229 [GRCh38]
Chr17:54671590 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.39C>T (p.Ala13=) single nucleotide variant not provided [RCV002158680] Chr17:56594262 [GRCh38]
Chr17:54671623 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.252C>G (p.Pro84=) single nucleotide variant not provided [RCV002122290] Chr17:56594475 [GRCh38]
Chr17:54671836 [GRCh37]
Chr17:17q22
likely benign
NM_005450.6(NOG):c.384C>T (p.Gly128=) single nucleotide variant not provided [RCV002204451] Chr17:56594607 [GRCh38]
Chr17:54671968 [GRCh37]
Chr17:17q22
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7866 AgrOrtholog
COSMIC NOG COSMIC
Ensembl Genes ENSG00000183691 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000328181 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000332822 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot
GTEx ENSG00000183691 GTEx
HGNC ID HGNC:7866 ENTREZGENE
Human Proteome Map NOG Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot
  Noggin UniProtKB/Swiss-Prot
KEGG Report hsa:9241 UniProtKB/Swiss-Prot
NCBI Gene 9241 ENTREZGENE
OMIM 184460 OMIM
  185800 OMIM
  186500 OMIM
  186570 OMIM
  602991 OMIM
  611377 OMIM
PANTHER PTHR10494 UniProtKB/Swiss-Prot
PharmGKB PA31670 PharmGKB
PIRSF Noggin UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot
UniProt NOGG_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-15 NOG  noggin  SYM1  symphalangism 1 (proximal)  Data Merged 737654 PROVISIONAL
2011-08-16 NOG  noggin  NOG  noggin  Symbol and/or name change 5135510 APPROVED