NOG (noggin)

Gene

• Entrez ID: 9241
• Gene name: Noggin
• Gene symbol: NOG
• Synonyms: SYM1, SYNS1, SYNS1A
• Chromosome: 17
• Chromosome location: 17q22
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001501	Process	Skeletal system development	TAS	10080184
GO:0001649	Process	Osteoblast differentiation	IBA	21873635
GO:0001649	Process	Osteoblast differentiation	ISS	10780858
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	ISS	10780858
GO:0001839	Process	Neural plate morphogenesis	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0003149	Process	Membranous septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003223	Process	Ventricular compact myocardium morphogenesis	ISS
GO:0005515	Function	Protein binding	IPI	19804412, 21976273, 24098149
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	7666191, 11562478
GO:0007399	Process	Nervous system development	TAS	7666191
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA	21873635
GO:0009953	Process	Dorsal/ventral pattern formation	IDA	7666191
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0019955	Function	Cytokine binding	IPI	8752214
GO:0021510	Process	Spinal cord development	IEA
GO:0021533	Process	Cell differentiation in hindbrain	IMP	8582276
GO:0021983	Process	Pituitary gland development	IEA
GO:0030336	Process	Negative regulation of cell migration	IDA	20675382
GO:0030509	Process	BMP signaling pathway	TAS
GO:0030514	Process	Negative regulation of BMP signaling pathway	IBA	21873635
GO:0030514	Process	Negative regulation of BMP signaling pathway	IDA	8752214, 10780858, 15539560
GO:0030514	Process	Negative regulation of BMP signaling pathway	ISS
GO:0035019	Process	Somatic stem cell population maintenance	IMP	17889703
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:0045668	Process	Negative regulation of osteoblast differentiation	IDA	20675382
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048318	Process	Axial mesoderm development	IEA
GO:0048570	Process	Notochord morphogenesis	IEA
GO:0048706	Process	Embryonic skeletal system development	IMP	10080184
GO:0048712	Process	Negative regulation of astrocyte differentiation	ISS	10780858
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	ISS
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:0060302	Process	Negative regulation of cytokine activity	IDA	8752214
GO:0060325	Process	Face morphogenesis	IEA
GO:0060394	Process	Negative regulation of pathway-restricted SMAD protein phosphorylation	IDA	15539560
GO:0060394	Process	Negative regulation of pathway-restricted SMAD protein phosphorylation	ISS
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:0060825	Process	Fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation	IMP	8582276
GO:0061037	Process	Negative regulation of cartilage development	IEA
GO:0061053	Process	Somite development	IEA
GO:0061312	Process	BMP signaling pathway involved in heart development	ISS
GO:0061384	Process	Heart trabecula morphogenesis	ISS
GO:0061626	Process	Pharyngeal arch artery morphogenesis	ISS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	15539560
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	ISS
GO:0090193	Process	Positive regulation of glomerulus development	ISS
GO:1905006	Process	Negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:2000313	Process	Regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation	IMP	8582276
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IEA

Other IDs

• MIM: 602991
• HGNC: 7866
• e!Ensembl: 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

Pathways

KEGG:

TGF-beta signaling pathway

Reactome:

Signaling by BMP

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anonychia	ANONYCHIA	rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150
Brachydactyly	Brachydactyly, BRACHYDACTYLY, TYPE B1, BRACHYDACTYLY, TYPE B2 (disorder), Brachydactyly type B2	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142	17668388
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Multiple synostoses syndrome	Multiple synostoses syndrome, Multiple synostoses syndrome 1, Multiple synostosis syndrome	rs74315386, rs74315388, rs121909347, rs121918322, rs1555223925, rs1554571213	10080184, 20503332, 17668388, 25241334, 25241334, 20503332
Proximal symphalangism	SYMPHALANGISM, PROXIMAL	rs104894602, rs121908948, rs104894608, rs104894609, rs104894611, rs104894612, rs104894613, rs28937580, rs1567745111	11846737, 24326127
Stapes ankylosis with broad thumb and toes	Stapes ankylosis with broad thumbs and toes	rs28937580, rs104894614, rs749247710
Symphalangism	SYMPHALANGISM, PROXIMAL, 1A	rs28936683, rs74315388, rs74315389, rs121909349	10080184, 17668388, 11846737, 15770128, 11857750
Symphalangism-brachydactyly syndrome	Symphalangism-brachydactyly syndrome	rs104894603, rs2145567008, rs1567745119, rs104894615, rs387906844, rs1597919829
Tarsal-carpal coalition syndrome	TARSAL-CARPAL COALITION SYNDROME	rs104894602, rs104894610, rs104894611	11545688, 21538686, 17668388

Unknown
Disease name	Disease term	dbSNP ID	References
Cubitus valgus	Acquired cubitus valgus
Elbow ankylosis	Ankylosis of the elbow joint
Camptodactyly of fingers	Clinodactyly of the 5th finger
Carpal synostosis	Carpal synostosis
Clinodactyly	Clinodactyly of fingers, Clinodactyly
Dislocated radial head	Congenital dislocation of radial head
Congenital pectus excavatum	Congenital pectus excavatum
Dwarfism	Dwarfism
Hyperopia	Hyperopia
Hypoplasia of lower limb	Hypoplasia of lower limb
Ovarian failure	Ovarian Failure, Premature		15066478
Strabismus	Strabismus
Syndactyly of fingers	Syndactyly of fingers, Cutaneous finger syndactyly
Syndactyly of the toes	Syndactyly of the toes, Cutaneous syndactyly of toes, 2-3 toe syndactyly
Tarsal coalition	Tarsal Coalition
Teunissen cremers syndrome	STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)		12089654, 17668388