Information on NOS2
Basic details
Alt. symbols: NOS2A | iNOS | NOS | HEP-NOS
Approved name: nitric oxide synthase 2
Alt. names: nitric oxide synthase 2A (inducible, hepatocytes), nitric oxide synthase 2, inducible
Location: 17q11.2: 27756766 - 27800529 (-)
Gene type: protein_coding, 7 transcripts.
Scores: LoFtool: 0.549000 | pLI: 0.00000001 | LOEUF: 0.755
Normal function
Dysfunction and disease
{Malaria, resistance to} [MIM:611162] | {Hypertension, susceptibility to} [MIM:145500] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
NOS2D |
NOS2 deficiency | AR |
- | 0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of NOS2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000313735.11 | CCDS11223 | Select | protein_coding | 27 | Yes | 4206 | NM_000625 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in NOS2
| ID | Year | Title | Journal | PMID | Variants |
|---|