Human Gene NOG (ENST00000332822.6_5) from GENCODE V47lift37 |
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 Sequence and Links to Tools and Databases
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Comments and Description Text from UniProtKB
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ID: NOGG_HUMAN
DESCRIPTION: RecName: Full=Noggin; Flags: Precursor;
FUNCTION: Essential for cartilage morphogenesis and joint formation. Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite.
SUBUNIT: Homodimer.
INTERACTION: P18075:BMP7; NbExp=1; IntAct=EBI-1035205, EBI-1035195;
SUBCELLULAR LOCATION: Secreted.
DISEASE: Defects in NOG are a cause of symphalangism proximal syndrome (SYM1) [MIM:185800]. SYM1 is characterized by the hereditary absence of the proximal interphalangeal (PIP) joints (Cushing symphalangism). Severity of PIP joint involvement diminishes towards the radial side. 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. Conducive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone.
DISEASE: Defects in NOG are the cause of multiple synostoses syndrome type 1 (SYNS1) [MIM:186500]; also known as synostoses, multiple, with brachydactyly/symphalangism-brachydactyly syndrome. SYNS1 is characterized by tubular-shaped (hemicylindrical) nose with lack of alar flare, otosclerotic deafness, and multiple progressive joint fusions commencing in the hand. The joint fusions are progressive, commencing in the fifth proximal interphalangeal joint in early childhood (or at birth in some individuals) and progressing in an ulnar-to-radial and proximal- to-distal direction. With increasing age, ankylosis of other joints, including the cervical vertebrae, hips, and humeroradial joints, develop.
DISEASE: Defects in NOG are the cause of tarsal-carpal coalition syndrome (TCC) [MIM:186570]. TCC is an 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.
DISEASE: Defects in NOG are a cause of stapes ankylosis with broad thumb and toes (SABTS) [MIM:184460]; also known as Teunissen- Cremers syndrome. SABTS is a congenital autosomal dominant disorder that includes hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism.
DISEASE: Defects in NOG are the cause of brachydactyly type B2 (BDB2) [MIM:611377]. BDB2 is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly.
SIMILARITY: Belongs to the noggin family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NOG";
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Primer design for this transcript
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MalaCards Disease Associations
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MalaCards Gene Search: NOG
Diseases sorted by gene-association score: tarsal-carpal coalition syndrome* (1699), brachydactyly, type b2* (1650), stapes ankylosis with broad thumb and toes* (1370), multiple synostoses syndrome 1* (1341), symphalangism, proximal, 1a* (1230), proximal symphalangism* (899), multiple synostoses syndrome* (808), brachydactyly-distal symphalangism syndrome* (400), ankylosis (24), fibrodysplasia ossificans progressiva (21), synovial chondromatosis (18), tracheoesophageal fistula (16), esophageal atresia (16), brachydactyly, type b1 (14), otosclerosis (13), synostosis (13), brachydactyly (13), abruzzo-erickson syndrome (11), sclerosteosis (10), du pan syndrome (9), humeroradial synostosis (8), craniosynostosis (7), chemical colitis (6), wheat allergy (6), osseous heteroplasia, progressive (5), chromosome 2q35 duplication syndrome (5), neural tube defects (3), combined t cell and b cell immunodeficiency (1)
* = Manually curated disease association
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Comparative Toxicogenomics Database (CTD)
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 Common Gene Haplotype Alleles
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Press "+" in the title bar above to open this section.
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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Press "+" in the title bar above to open this section.
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mRNA Secondary Structure of 3' and 5' UTRs
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The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
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Protein Domain and Structure Information
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InterPro Domains: Graphical view of domain structure
IPR008717 - Noggin
Pfam Domains:
PF05806 - Noggin
SCOP Domains:
57501 - Cystine-knot cytokines
Protein Data Bank (PDB) 3-D Structure
ModBase Predicted Comparative 3D Structure on Q13253
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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Orthologous Genes in Other Species
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Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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Gene Ontology (GO) Annotations with Structured Vocabulary
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Descriptions from all associated GenBank mRNAs
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AK314080 - Homo sapiens cDNA, FLJ94753, highly similar to Homo sapiens noggin (NOG), mRNA.
JD057274 - Sequence 38298 from Patent EP1572962.
BC034027 - Homo sapiens noggin, mRNA (cDNA clone MGC:23903 IMAGE:4737725), complete cds.
JD345413 - Sequence 326437 from Patent EP1572962.
JD283904 - Sequence 264928 from Patent EP1572962.
JD463906 - Sequence 444930 from Patent EP1572962.
JD210968 - Sequence 191992 from Patent EP1572962.
CU689812 - Synthetic construct Homo sapiens gateway clone IMAGE:100022101 5' read NOG mRNA.
KJ892724 - Synthetic construct Homo sapiens clone ccsbBroadEn_02118 NOG gene, encodes complete protein.
JD410240 - Sequence 391264 from Patent EP1572962.
JD298658 - Sequence 279682 from Patent EP1572962.
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Biochemical and Signaling Pathways
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Other Names for This Gene
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Alternate Gene Symbols: ENST00000332822.1, ENST00000332822.2, ENST00000332822.3, ENST00000332822.4, ENST00000332822.5, NM_005450, NOGG_HUMAN, Q13253, uc317tni.1, uc317tni.2
UCSC ID: ENST00000332822.6_5
RefSeq Accession: NM_005450.6
Protein: Q13253
(aka NOGG_HUMAN)
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Gene Model Information
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for a detailed description of the fields of the table above.
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Methods, Credits, and Use Restrictions
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Click here
for details on how this gene model was made and data restrictions if any.
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US Server
