NOG (noggin) - Rat Genome Database

Name: NOG
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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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 ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Nog (noggin)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Nog (noggin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Nog (noggin)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	NOG (noggin)	NCBI	Ortholog
Canis lupus familiaris (dog):	NOG (noggin)	HGNC	HomoloGene, NCBI
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Nog (noggin)	NCBI	Ortholog
Sus scrofa (pig):	NOG (noggin)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	NOG (noggin)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Nog (noggin)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Nog (noggin)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PhylomeDB\|TreeFam)
Mus musculus (house mouse):	Nog (noggin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	nog3 (noggin 3)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam\|ZFIN)
Danio rerio (zebrafish):	nog1 (noggin 1)	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam\|ZFIN)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	56,593,699 - 56,595,611 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	17	56,593,699 - 56,595,611 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	54,671,060 - 54,672,972 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	52,026,274 - 52,027,546 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	17	52,026,273 - 52,027,542	NCBI
Celera	17	51,132,757 - 51,134,648 (+)	NCBI
Cytogenetic Map	17	q22	NCBI
HuRef	17	50,031,838 - 50,033,727 (+)	NCBI		HuRef
CHM1_1	17	54,735,932 - 54,737,820 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	57,469,821 - 57,471,732 (+)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

acute kidney tubular necrosis (ISO)

Alzheimer's disease (ISO)

brachydactyly type B2 (IAGP)

cleft lip (IAGP)

Conductive Hearing Loss (ISO)

COVID-19 (HEP)

craniosynostosis (IDA)

esophageal atresia/tracheoesophageal fistula (ISO,ISS)

genetic disease (IAGP)

Huntington's disease (IMP)

hyperopia (IAGP)

Joubert syndrome (IAGP)

Micrognathism (IAGP)

multiple synostoses syndrome (IEA)

Multiple Synostoses Syndrome 1 (IAGP)

osteoporosis (ISO)

Peripheral Nerve Injuries (ISO)

prolactinoma (ISO)

proximal symphalangism (EXP,IAGP)

proximal symphalangism 1 (IAGP)

Pulmonary Hypertension, Hypoxia-Induced (ISO)

relapsing-remitting multiple sclerosis (IEP)

Spinal Cord Injuries (ISO)

Stapes Ankylosis with Broad Thumbs and Toes (IAGP)

tarsal-carpal coalition syndrome (IAGP)

type 1 diabetes mellitus (ISO)

type 2 diabetes mellitus (ISO)

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

cytokine binding (IPI)

protein binding (IPI,ISO)

protein homodimerization activity (IDA)

protein-containing complex binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

Bone morphogenetic proteins signaling pathway (EXP)

transforming growth factor-beta superfamily mediated signaling pathway (IEA)

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.	Gutiérrez 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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	56,593,699 - 56,595,611 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	17	56,593,699 - 56,595,611 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	54,671,060 - 54,672,972 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	52,026,274 - 52,027,546 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	17	52,026,273 - 52,027,542	NCBI
Celera	17	51,132,757 - 51,134,648 (+)	NCBI
Cytogenetic Map	17	q22	NCBI
HuRef	17	50,031,838 - 50,033,727 (+)	NCBI		HuRef
CHM1_1	17	54,735,932 - 54,737,820 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	57,469,821 - 57,471,732 (+)	NCBI

Nog
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	89,191,464 - 89,193,385 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	11	89,191,464 - 89,193,158 (-)	Ensembl
GRCm38	11	89,300,638 - 89,302,559 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	89,300,638 - 89,302,332 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	89,161,952 - 89,163,873 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	11	89,117,412 - 89,118,110 (-)	NCBI			mm8
Celera	11	98,919,523 - 98,921,373 (-)	NCBI		Celera
Cytogenetic Map	11	C	NCBI
cM Map	11	54.34	NCBI

Nog
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	10	74,128,712 - 74,130,339 (-)	NCBI	mRatBN7.2
mRatBN7.2 Ensembl	10	74,128,712 - 74,130,339 (-)	Ensembl
Rnor_6.0	10	76,811,759 - 76,813,386 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	76,811,759 - 76,813,386 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	76,677,612 - 76,679,239 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	77,689,244 - 77,690,871 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	10	77,703,801 - 77,704,728 (-)	NCBI
Celera	10	73,029,127 - 73,030,754 (-)	NCBI		Celera
Cytogenetic Map	10	q26	NCBI

Nog
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955451	6,193,042 - 6,193,740 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955451	6,192,368 - 6,193,766 (-)	NCBI	ChiLan1.0	ChiLan1.0

NOG
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	17	55,532,208 - 55,533,782 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	55,532,394 - 55,533,092 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	17	50,669,186 - 50,671,081 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

NOG
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	31,453,604 - 31,456,060 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	30,695,378 - 30,696,228 (+)	NCBI
ROS_Cfam_1.0	9	32,262,855 - 32,263,712 (+)	NCBI
ROS_Cfam_1.0 Ensembl	9	32,262,940 - 32,263,663 (+)	Ensembl
UMICH_Zoey_3.1	9	31,048,413 - 31,049,269 (+)	NCBI
UNSW_CanFamBas_1.0	9	31,332,204 - 31,333,060 (+)	NCBI
UU_Cfam_GSD_1.0	9	31,415,982 - 31,416,833 (+)	NCBI

Nog
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	30,811,040 - 30,812,486 (+)	NCBI
SpeTri2.0	NW_004936490	6,262,651 - 6,264,069 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NOG
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	32,891,321 - 32,892,206 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	32,891,321 - 32,892,206 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

NOG
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	16	36,816,783 - 36,818,693 (-)	NCBI	ChlSab1.1		chlSab2
ChlSab1.1 Ensembl	16	36,817,476 - 36,818,174 (-)	Ensembl	ChlSab1.1		chlSab2
Vero_WHO_p1.0	NW_023666077	7,642,384 - 7,644,356 (-)	NCBI	Vero_WHO_p1.0

Nog
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624795	11,696,353 - 11,697,051 (+)	Ensembl	HetGla_female_1.0		hetGla2
HetGla 1.0	NW_004624795	11,696,102 - 11,697,367 (+)	NCBI	HetGla_female_1.0		hetGla2

Position Markers

Nog

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	54,671,663 - 54,672,023	UniSTS	GRCh37
Build 36	17	52,026,662 - 52,027,022	RGD	NCBI36
Celera	17	51,133,360 - 51,133,720	RGD
HuRef	17	50,032,441 - 50,032,801	UniSTS

PMC316831P1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	54,671,583 - 54,671,794	UniSTS	GRCh37
Build 36	17	52,026,582 - 52,026,793	RGD	NCBI36
Celera	17	51,133,280 - 51,133,491	RGD
Cytogenetic Map	17	q22	UniSTS
HuRef	17	50,032,361 - 50,032,572	UniSTS

NOG_2549

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	54,671,940 - 54,672,641	UniSTS	GRCh37
Build 36	17	52,026,939 - 52,027,640	RGD	NCBI36
Celera	17	51,133,637 - 51,134,338	RGD
HuRef	17	50,032,718 - 50,033,417	UniSTS

RH66786

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	54,672,111 - 54,672,268	UniSTS	GRCh37
Build 36	17	52,027,110 - 52,027,267	RGD	NCBI36
Celera	17	51,133,808 - 51,133,965	RGD
Cytogenetic Map	17	q22	UniSTS
HuRef	17	50,032,889 - 50,033,046	UniSTS
GeneMap99-GB4 RH Map	17	367.95	UniSTS

MARC_53900-53901:1151606073:5

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	54,671,939 - 54,672,437	UniSTS	GRCh37
Celera	17	51,133,636 - 51,134,134	UniSTS
HuRef	17	50,032,717 - 50,033,213	UniSTS

UniSTS:495034

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	54,671,521 - 54,672,332	UniSTS	GRCh37
Celera	17	51,133,218 - 51,134,029	UniSTS
HuRef	17	50,032,299 - 50,033,110	UniSTS

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR148B	hsa-miR-148b-3p	Mirecords	external_info	NA	NA	21205300

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

232

306

222

Low

1390

1576

728

102

508

2749

1490

3026

190

977

1217

598

2115

Below cutoff

915

1258

737

312

784

224

1309

609

379

169

317

297

583

447

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_011958	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC015724	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034027	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471109	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JC739560	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U31202	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000332822 ⟹ ENSP00000328181

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	17	56,593,699 - 56,595,611 (+)	Ensembl

RefSeq Acc Id:

NM_005450 ⟹ NP_005441

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	56,593,699 - 56,595,611 (+)	NCBI
GRCh37	17	54,671,060 - 54,672,951 (+)	ENTREZGENE
Build 36	17	52,026,274 - 52,027,546 (+)	NCBI Archive
HuRef	17	50,031,838 - 50,033,727 (+)	ENTREZGENE
CHM1_1	17	54,735,932 - 54,737,820 (+)	NCBI
T2T-CHM13v2.0	17	57,469,821 - 57,471,732 (+)	NCBI

Sequence:

show sequence

AAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGC
CGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTT
GCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCT
GCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTG
GAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCC
AACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGC
TCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCG
CGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGC
GCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTC
CTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCG
ACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGA
TCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACC
TCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGG
AGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGA
GTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTA
CAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCC
GCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGA
GGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGG
CGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCT
CGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCC
CTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTT
TTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAAC
TGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCA
GTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAA
AAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTAT
ATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGA
GACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGG
TTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGA
GAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCC
CGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_005441	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA83259	(Get FASTA)	NCBI Sequence Viewer
	AAH34027	(Get FASTA)	NCBI Sequence Viewer
	BAG36778	(Get FASTA)	NCBI Sequence Viewer
	CEF39439	(Get FASTA)	NCBI Sequence Viewer
	EAW94528	(Get FASTA)	NCBI Sequence Viewer
	Q13253	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_005441 ⟸ NM_005450
- Peptide Label:	precursor
- UniProtKB:	Q13253 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MERCPSLGVTLYALVVVLGLRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKDLNET LLRSLLGGHYDPGFMATSPPEDRPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEIKGLEFSEG LAQGKKQRLSKKLRRKLQMWLWSQTFCPVLYAWNDLGSRFWPRYVKVGSCFSKRSCSVPEGMVC KPSKSVHLTVLRWRCQRRGGQRCGWIPIQYPIISECKCSC hide 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

External Database Links

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

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