NOG
entrez
9241
canonical
uniprot
Q13253
canonical
ensembl
ENSG00000183691
resolver
ensp
ENSP00000328181
resolver
enst
ENST00000332822
resolver
genesymbol
NOG
resolver
hgnc
HGNC:7866
resolver
uniprot_entry
NOGG_HUMAN
resolver
amino_acid_sequence
MERCPSLGVTLYALVVVLGLRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKDLNETLLRSLLGGHYDPGFMATSPPEDRPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEIKGLEFSEGLAQGKKQRLSKKLRRKLQMWLWSQTFCPVLYAWNDLGSRFWPRYVKVGSCFSKRSCSVPEGMVCKPSKSVHLTVLRWRCQRRGGQRCGWIPIQYPIISECKCSC
uniprot
proteins
disease_involvement
DISEASE: Symphalangism, proximal 1A (SYM1A) [MIM:185800]: A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone. {ECO:0000269|PubMed:10080184, ECO:0000269|PubMed:11846737, ECO:0000269|PubMed:11857750, ECO:0000269|PubMed:15770128}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Multiple synostoses syndrome 1 (SYNS1) [MIM:186500]: A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. {ECO:0000269|PubMed:10080184, ECO:0000269|PubMed:20503332}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Tarsal-carpal coalition syndrome (TCC) [MIM:186570]: Autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families. {ECO:0000269|PubMed:11545688}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Stapes ankylosis with broad thumb and toes (SABTS) [MIM:184460]: An autosomal dominant disorder characterized by hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism. {ECO:0000269|PubMed:12089654}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Brachydactyly B2 (BDB2) [MIM:611377]: A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. {ECO:0000269|PubMed:17668388}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 interaction with GDF5 and, probably, GDF6 (PubMed:21976273, PubMed:26643732). {ECO:0000269|PubMed:12478285, ECO:0000269|PubMed:21976273, ECO:0000269|PubMed:26643732}.
uniprot
proteins
mass_dalton
25774
uniprot
proteins
protein_family
Noggin family
uniprot
proteins
pubmed
10080184
uniprot
proteins
pubmed
11545688
uniprot
proteins
pubmed
11846737
uniprot
proteins
pubmed
11857750
uniprot
proteins
pubmed
12089654
uniprot
proteins
pubmed
12478285
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15770128
uniprot
proteins
pubmed
17668388
uniprot
proteins
pubmed
20503332
uniprot
proteins
pubmed
21976273
uniprot
proteins
pubmed
24098149
uniprot
proteins
pubmed
26643732
uniprot
proteins
pubmed
31138930
uniprot
proteins
pubmed
7666191
uniprot
proteins
sequence_length
232
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins