Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9241
Gene name Gene Name - the full gene name approved by the HGNC.	Noggin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NOG
Synonyms (NCBI Gene) Gene synonyms aliases	SYM1, SYNS1, SYNS1A
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q22
Summary Summary of gene provided in NCBI Entrez Gene.	The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more e

Show/Hide all(18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937580	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894602	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894603	T>G	Pathogenic	Missense variant, coding sequence variant
rs104894608	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894609	G>T	Pathogenic	Missense variant, coding sequence variant
rs104894610	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894611	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894612	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894613	T>A	Pathogenic	Stop gained, coding sequence variant
rs104894614	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894615	G>C	Pathogenic	Missense variant, coding sequence variant
rs121908948	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs121908949	C>G	Pathogenic	Coding sequence variant, missense variant
rs387906844	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1064796941	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1567745111	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567745119	G>A	Pathogenic	Stop gained, coding sequence variant
rs1597919829	->G	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(17)

miRTarBase ID	miRNA	Experiments	Reference
MIRT288330	hsa-miR-200c-3p	qRT-PCR	23294929
MIRT288330	hsa-miR-200c-3p	qRT-PCR	23294929
MIRT2283671	hsa-miR-101	CLIP-seq
MIRT2283672	hsa-miR-144	CLIP-seq
MIRT2283673	hsa-miR-181a	CLIP-seq
MIRT2283674	hsa-miR-181b	CLIP-seq
MIRT2283675	hsa-miR-181c	CLIP-seq
MIRT2283676	hsa-miR-181d	CLIP-seq
MIRT2283677	hsa-miR-329	CLIP-seq
MIRT2283678	hsa-miR-362-3p	CLIP-seq
MIRT2283679	hsa-miR-3685	CLIP-seq
MIRT2283680	hsa-miR-3941	CLIP-seq
MIRT2283681	hsa-miR-4262	CLIP-seq
MIRT2283682	hsa-miR-4789-3p	CLIP-seq
MIRT2283683	hsa-miR-4789-5p	CLIP-seq
MIRT2283684	hsa-miR-603	CLIP-seq
MIRT2283685	hsa-miR-936	CLIP-seq

Show/Hide all(124)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	TAS	10080184
GO:0001649	Process	Osteoblast differentiation	IBA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	ISS	10780858
GO:0001655	Process	Urogenital system development	IEA
GO:0001657	Process	Ureteric bud development	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001706	Process	Endoderm formation	IEA
GO:0001707	Process	Mesoderm formation	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	ISS	10780858
GO:0001839	Process	Neural plate morphogenesis	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0003149	Process	Membranous septum morphogenesis	IEA
GO:0003149	Process	Membranous septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003223	Process	Ventricular compact myocardium morphogenesis	IEA
GO:0003223	Process	Ventricular compact myocardium morphogenesis	ISS
GO:0003272	Process	Endocardial cushion formation	IEA
GO:0003272	Process	Endocardial cushion formation	ISS
GO:0005515	Function	Protein binding	IPI	19804412, 21976273, 24098149
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	7666191, 11562478
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	10080184
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007399	Process	Nervous system development	TAS	7666191
GO:0007411	Process	Axon guidance	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007498	Process	Mesoderm development	IDA	8752214
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008542	Process	Visual learning	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0009953	Process	Dorsal/ventral pattern formation	IDA	7666191
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0019838	Function	Growth factor binding	IPI	8752214
GO:0021510	Process	Spinal cord development	IEA
GO:0021533	Process	Cell differentiation in hindbrain	IMP	8582276
GO:0021915	Process	Neural tube development	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0021999	Process	Neural plate anterior/posterior regionalization	IMP	8582276
GO:0030154	Process	Cell differentiation	IEA
GO:0030336	Process	Negative regulation of cell migration	IDA	20675382
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030510	Process	Regulation of BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IBA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IDA	8752214, 10780858, 15539560
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	ISS
GO:0030900	Process	Forebrain development	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IMP	17889703
GO:0035640	Process	Exploration behavior	IEA
GO:0038092	Process	Nodal signaling pathway	IMP	8582276
GO:0040036	Process	Regulation of fibroblast growth factor receptor signaling pathway	IMP	8582276
GO:0042060	Process	Wound healing	IEA
GO:0042060	Process	Wound healing	ISS	10780858
GO:0042474	Process	Middle ear morphogenesis	IMP	10080184
GO:0042733	Process	Embryonic digit morphogenesis	IMP	10080184
GO:0042803	Function	Protein homodimerization activity	IDA	11562478
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IDA	20675382
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IEA
GO:0048318	Process	Axial mesoderm development	IEA
GO:0048562	Process	Embryonic organ morphogenesis	IEA
GO:0048570	Process	Notochord morphogenesis	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048706	Process	Embryonic skeletal system development	IMP	10080184
GO:0048712	Process	Negative regulation of astrocyte differentiation	IEA
GO:0048712	Process	Negative regulation of astrocyte differentiation	ISS	10780858
GO:0048762	Process	Mesenchymal cell differentiation	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	IEA
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	ISS
GO:0060044	Process	Negative regulation of cardiac muscle cell proliferation	IEA
GO:0060044	Process	Negative regulation of cardiac muscle cell proliferation	ISS	10780858
GO:0060173	Process	Limb development	IMP	10080184
GO:0060272	Process	Embryonic skeletal joint morphogenesis	IMP	16151340
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060325	Process	Face morphogenesis	IEA
GO:0060392	Process	Negative regulation of SMAD protein signal transduction	IDA	15539560
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060425	Process	Lung morphogenesis	IEA
GO:0060513	Process	Prostatic bud formation	IEA
GO:0060676	Process	Ureteric bud formation	IEA
GO:0061037	Process	Negative regulation of cartilage development	IEA
GO:0061053	Process	Somite development	IEA
GO:0061384	Process	Heart trabecula morphogenesis	IEA
GO:0061384	Process	Heart trabecula morphogenesis	ISS
GO:0061626	Process	Pharyngeal arch artery morphogenesis	IEA
GO:0061626	Process	Pharyngeal arch artery morphogenesis	ISS
GO:0062044	Process	Negative regulation of cardiac epithelial to mesenchymal transition	IEA
GO:0062044	Process	Negative regulation of cardiac epithelial to mesenchymal transition	ISS
GO:0071773	Process	Cellular response to BMP stimulus	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	15539560
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	IEA
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	ISS
GO:0090193	Process	Positive regulation of glomerulus development	IEA
GO:0090193	Process	Positive regulation of glomerulus development	ISS
GO:0098793	Component	Presynapse	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA
GO:0141069	Function	Receptor ligand inhibitor activity	IDA	8752214
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1990926	Process	Short-term synaptic potentiation	IEA
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
602991	7866	ENSG00000183691

Protein

UniProt ID

Q13253

Protein name

Noggin

Protein function

Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its inter

PDB

1M4U , 7AG0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05806	Noggin	12 → 232		Family

Sequence

MERCPSLGVTLYALVVVLGLRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKD
LNETLLRSLLGGHYDPGFMATSPPEDRPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEI
KGLEFSEGLAQGKKQRLSKKLRRKLQMWLWSQTFCPVLYAWNDLGSRFWPRYVKVGSCFS
KRSCSVPEGMVCKPSKSVHLTVLRWRCQRRGGQRCGWIPIQYPIISECKCSC

Sequence length

232

Interactions

View interactions

	KEGG		Reactome
	TGF-beta signaling pathway		Signaling by BMP

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Brachydactyly	brachydactyly type b2	rs121908949, rs28937580	N/A
Proximal symphalangism	Proximal symphalangism 1A	rs104894608, rs28937580, rs104894609, rs104894611, rs104894612, rs104894613, rs1567745111, rs104894602, rs121908948	N/A
Stapes Ankylosis With Broad Thumb And Toes	stapes ankylosis with broad thumbs and toes	rs28937580, rs104894614, rs749247710	N/A
Tarsal-Carpal Coalition Syndrome	tarsal-carpal coalition syndrome	rs104894610, rs104894611, rs104894602	N/A
Symphalangism-Brachydactyly Syndrome	symphalangism-brachydactyly syndrome	rs1567745119, rs104894615, rs387906844, rs2145567008, rs1597919829, rs104894603	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cleft Lip With Or Without Cleft Palate	Cleft lip with or without cleft palate	N/A	N/A	GWAS
Multiple Synostoses Syndrome	multiple synostoses syndrome	N/A	N/A	GenCC
Myopia	Myopia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (69)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acro Osteolysis	Associate	14753748, 21249149
Ankylosis	Associate	32791904
Anophthalmos with limb anomalies	Associate	23361222
Aortic Valve Disease	Associate	23483047
Arthritis Rheumatoid	Inhibit	33463122
Bone Cysts	Associate	21249149
Bone Diseases	Inhibit	21249149
Bone Diseases	Associate	22547073, 23799295
Brachydactyly Type B1	Associate	17668388
Brain Infarction	Associate	36529041
Breast Neoplasms	Associate	22547073, 30850363
Calcinosis	Inhibit	34954251
Cerebral Infarction	Associate	36529041
Cleft Palate	Associate	31262291, 34242216
Colorectal Neoplasms	Associate	23638973, 34526059, 34841646
Craniopharyngioma	Associate	27983534
Cushing's symphalangism	Associate	11545688, 12089654, 14753748, 15066478, 31370824, 31694554, 32478388, 7557985
Deafness	Associate	31694554, 32791904, 33308208
Deafness Progressive With Stapes Fixation	Associate	26474326, 33308208
Demyelinating Diseases	Associate	30609838
Developmental Disabilities	Associate	33308208
Esophageal Atresia	Associate	22083168
Esophageal atresia with or without tracheoesophageal fistula	Associate	22083168
Esophageal Squamous Cell Carcinoma	Associate	22364398
Facial Neoplasms	Associate	23361222
Fibrocartilaginous embolism	Associate	26809343
Fused Kidney	Associate	31370824, 34334433
Genetic Predisposition to Disease	Associate	31694554
Glaucoma	Associate	27293372
Glioma	Associate	18492260, 25808628
Growth Disorders	Associate	25815513
Hearing Loss	Associate	31694554
Hearing Loss Conductive	Associate	12089654, 23361222, 26474326, 32478388, 34049328
Holoprosencephaly	Associate	22503063
Hyperopia	Associate	12089654
Hyperostosis Diffuse Idiopathic Skeletal	Associate	37156767
Hypersensitivity Immediate	Inhibit	36529041
Hypoxia	Stimulate	20336693
Intervertebral Disc Degeneration	Associate	39519354
Iridogoniodysgenesis and skeletal anomalies	Associate	12089654, 22288654
Low Back Pain	Associate	39519354
Melanoma	Associate	18560367
Mengel Konigsmark syndrome	Associate	23361222
Multiple Myeloma	Associate	20679527
Multiple Sclerosis	Associate	30609838
Musculoskeletal Abnormalities	Associate	22288654
Neoplasm Metastasis	Associate	18931653, 21249149, 22547073
Neoplasms	Associate	21249149, 22364398, 23826422, 34001012
Neoplasms	Stimulate	40571310
Nerve Degeneration	Inhibit	39519354
NOG Related Symphalangism Spectrum Disorder	Associate	11545688, 12089654, 22288654, 25815513, 26474326, 34049328, 35332702
Optic Atrophy	Associate	26738566
Otosclerosis	Associate	12089654
Pancreatic Neoplasms	Associate	40571310
Primary Ovarian Insufficiency	Associate	15066478
Prostatic Neoplasms	Associate	18931653
Radioulnar Synostosis	Associate	31138930, 36984532
Renal Insufficiency Chronic	Inhibit	30602563
Retinal Diseases	Associate	27293372
Ring Chromosome 20 Syndrome	Inhibit	36529041
Sarcoidosis	Associate	22984568
Squamous Cell Carcinoma of Head and Neck	Associate	31698994
Stomach Neoplasms	Associate	34001012
Stroke	Associate	30760287, 31391037
Symphalangism Distal	Associate	22288654, 31694554
Synostosis	Associate	16532400, 22288654, 35332702
Tarsal Coalition	Associate	34334433
Thyroid Cancer Papillary	Associate	23826422
Tracheoesophageal Fistula	Associate	22083168

NOG (noggin)