IFNA2 (interferon alpha 2) - Rat Genome Database

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Gene: IFNA2 (interferon alpha 2) Homo sapiens
Analyze
Symbol: IFNA2
Name: interferon alpha 2
RGD ID: 1350795
HGNC Page HGNC:5423
Description: Enables cytokine activity. Involved in several processes, including defense response to symbiont; negative regulation of macromolecule biosynthetic process; and negative regulation of viral entry into host cell. Located in collagen-containing extracellular matrix. Is active in extracellular space. Implicated in common cold; hepatitis B; hepatocellular carcinoma; and liver cirrhosis. Biomarker of hepatitis C and metabolic dysfunction-associated steatotic liver disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-2a interferon; IFN-alpha-2; IFN-alphaA; IFNA; IFNA2B; INFA2; interferon alpha 2a; interferon alpha 2b; interferon alpha A; interferon alpha-2; interferon alpha-A; interferon, alpha 2; leIF A; MGC125764; MGC125765
RGD Orthologs
Bonobo
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38921,384,255 - 21,385,398 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl921,384,255 - 21,385,398 (-)EnsemblGRCh38hg38GRCh38
GRCh37921,384,254 - 21,385,397 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36921,374,254 - 21,375,396 (-)NCBINCBI36Build 36hg18NCBI36
Build 34921,374,253 - 21,375,396NCBI
Celera921,322,568 - 21,323,710 (-)NCBICelera
Cytogenetic Map9p21.3NCBI
HuRef921,347,656 - 21,348,798 (-)NCBIHuRef
CHM1_1921,384,072 - 21,385,214 (-)NCBICHM1_1
T2T-CHM13v2.0921,398,432 - 21,399,575 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Abdominal Pain  (EXP)
acute kidney failure  (EXP)
adult T-cell leukemia/lymphoma  (EXP)
anemia  (EXP)
Anorexia  (EXP)
anterior ischemic optic neuropathy  (EXP)
anxiety disorder  (EXP)
Chemical and Drug Induced Liver Injury  (EXP)
Chills  (EXP)
Chronic Hepatitis  (EXP)
Chronic Hepatitis B  (EXP,IAGP)
Chronic Hepatitis C  (EXP,IDA)
chronic myeloid leukemia  (EXP)
Colorectal Neoplasms  (EXP)
common cold  (IDA)
depressive disorder  (EXP)
diarrhea  (EXP)
disease of mental health  (EXP)
Epithelioid Hemangioendothelioma  (EXP)
essential thrombocythemia  (EXP)
Experimental Liver Cirrhosis  (EXP)
Fatigue  (EXP)
Fever  (EXP)
Flavivirus Infections  (EXP)
follicular lymphoma  (EXP)
genetic disease  (IAGP)
glioblastoma  (EXP)
Headache  (EXP)
hemolytic anemia  (EXP)
hepatitis B  (EXP,IDA)
hepatitis C  (EXP,IEP)
hepatocellular carcinoma  (IAGP)
Hepatomegaly  (EXP)
Hodgkin's lymphoma  (EXP)
Hypertriglyceridemia  (EXP)
intestinal perforation  (EXP)
kidney failure  (EXP)
leukopenia  (EXP)
liver cirrhosis  (IDA)
melanoma  (EXP)
Meningism  (EXP)
metabolic dysfunction-associated steatotic liver disease  (IEP)
multiple myeloma  (EXP)
myocardial infarction  (EXP)
Nausea  (EXP)
neutropenia  (EXP)
non-Hodgkin lymphoma  (EXP)
Pain  (EXP)
pancreatic cancer  (EXP)
polycythemia vera  (EXP)
Polyomavirus Infections  (EXP)
pterygium  (EXP)
Raynaud disease  (EXP)
renal cell carcinoma  (EXP)
retinal detachment  (EXP)
retinal disease  (EXP)
schizophrenia  (IAGP)
Sepsis  (EXP)
skin disease  (EXP)
somatoform disorder  (EXP)
squamous cell carcinoma  (EXP)
steatotic liver disease  (EXP)
Stevens-Johnson syndrome  (EXP)
stomatitis  (EXP)
thrombocytopenia  (EXP)
Thyroid Neoplasms  (EXP)
Tinnitus  (EXP)
transitional cell carcinoma  (EXP)
urinary bladder cancer  (EXP)
Viremia  (EXP)
Vogt-Koyanagi-Harada disease  (EXP)
Vomiting  (EXP)
Weight Gain  (EXP)
Weight Loss  (EXP)
withdrawal disorder  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Efficacy and tolerance of a 6-month treatment course of daily interferon-alpha 2a for chronic hepatitis C with cirrhosis. The Australian Hepatitis C Study Group. Farrell G, etal., J Viral Hepat. 1997 Sep;4(5):317-23. doi: 10.1046/j.1365-2893.1997.00062.x.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Mutations in the interferon sensitivity-determining region of hepatitis C virus genotype 2a correlate with response to pegylated-interferon-alpha 2a monotherapy. Hayashi K, etal., J Med Virol. 2009 Mar;81(3):459-66. doi: 10.1002/jmv.21407.
4. Intranasal interferon-alpha 2 treatment of experimental rhinoviral colds. Hayden FG and Gwaltney JM, J Infect Dis. 1984 Aug;150(2):174-80. doi: 10.1093/infdis/150.2.174.
5. [Association between the influential factors and the effectiveness of pegylated interferon alpha-2a plus ribavirin as a combination treatment for chronic hepatitis C patients]. He LL, etal., Zhonghua Gan Zang Bing Za Zhi. 2011 Jan;19(1):34-7. doi: 10.3760/cma.j.issn.1007-3418.2011.01.010.
6. Pegylated interferon alpha-2a versus standard interferon alpha-2a for treatment-naive dialysis patients with chronic hepatitis C: a randomised study. Liu CH, etal., Gut. 2008 Apr;57(4):525-30. doi: 10.1136/gut.2007.133884. Epub 2007 Sep 19.
7. Role of Functional IFNL4, IFNLR1, IFNA, IFNAR2 Polymorphisms in Hepatitis B virus-related liver disease in Han Chinese population. Ma N, etal., J Viral Hepat. 2018 Mar;25(3):306-313. doi: 10.1111/jvh.12817. Epub 2017 Nov 29.
8. Endogenous intrahepatic IFNs and association with IFN-free HCV treatment outcome. Meissner EG, etal., J Clin Invest. 2014 Aug;124(8):3352-63. doi: 10.1172/JCI75938. Epub 2014 Jul 1.
9. Genotype, serum level of hepatitis C virus RNA and liver histology as predictors of response to interferon-alpha 2a therapy in Japanese patients with chronic hepatitis C. Mizokami M, etal., Liver. 1996 Feb;16(1):23-7. doi: 10.1111/j.1600-0676.1996.tb00699.x.
10. Remission of liver fibrosis by interferon-alpha 2b. Moreno MG and Muriel P, Biochem Pharmacol. 1995 Aug 8;50(4):515-20. doi: 10.1016/0006-2952(95)00154-r.
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. Long-term titrated recombinant interferon-alpha 2a in chronic hepatitis C: a randomized controlled trial. Rumi MG, etal., J Viral Hepat. 1995;2(2):73-6. doi: 10.1111/j.1365-2893.1995.tb00009.x.
14. To treat or not to treat? The judicious use of interferon-alpha-2a for the treatment of chronic hepatitis B. Ryff JC, J Hepatol. 1993;17 Suppl 3:S42-6. doi: 10.1016/s0168-8278(05)80422-2.
15. Interferon-alpha 2 but not Interferon-gamma serum levels are associated with intramuscular fat in obese patients with nonalcoholic fatty liver disease. Tarantino G, etal., J Transl Med. 2019 Jan 3;17(1):8. doi: 10.1186/s12967-018-1754-6.
16. Does the presence of serum autoantibodies influence the responsiveness to interferon-alpha 2a treatment in chronic hepatitis C? Wada M, etal., Intern Med. 1997 Apr;36(4):248-54. doi: 10.2169/internalmedicine.36.248.
17. Rare inborn errors associated with chronic hepatitis B virus infection. Zhao Q, etal., Hepatology. 2012 Nov;56(5):1661-70. doi: 10.1002/hep.25850. Epub 2012 Oct 14.
Additional References at PubMed
PMID:1381203   PMID:1385305   PMID:1708818   PMID:1834641   PMID:1905933   PMID:2014240   PMID:2049076   PMID:2552026   PMID:3906813   PMID:6158094   PMID:6159537   PMID:6159538  
PMID:6162107   PMID:6163083   PMID:6164056   PMID:6170983   PMID:6310510   PMID:7511078   PMID:7526537   PMID:7532202   PMID:7583919   PMID:7627809   PMID:7759950   PMID:7815507  
PMID:7904170   PMID:7913356   PMID:8082511   PMID:8234245   PMID:8345204   PMID:8366289   PMID:8438572   PMID:8661419   PMID:8668211   PMID:8764000   PMID:8994971   PMID:9108403  
PMID:9181467   PMID:9225992   PMID:9343822   PMID:9417943   PMID:9425112   PMID:9520456   PMID:9658081   PMID:9694076   PMID:9865497   PMID:10339405   PMID:10477584   PMID:11694501  
PMID:11888273   PMID:12010658   PMID:12089333   PMID:12477932   PMID:15004750   PMID:15233997   PMID:15481145   PMID:16160188   PMID:16171819   PMID:16278001   PMID:16375755   PMID:16418394  
PMID:16697656   PMID:16920161   PMID:17116765   PMID:17180012   PMID:17181634   PMID:17275127   PMID:17360657   PMID:17477817   PMID:17703412   PMID:17880940   PMID:18005734   PMID:18027911  
PMID:18032529   PMID:18200009   PMID:18200012   PMID:18272764   PMID:18414664   PMID:18584346   PMID:18672082   PMID:18729739   PMID:18937499   PMID:19000144   PMID:19004943   PMID:19055755  
PMID:19153447   PMID:19258923   PMID:19345260   PMID:19559726   PMID:19564411   PMID:19574459   PMID:19621225   PMID:19706714   PMID:19790049   PMID:20159042   PMID:20237496   PMID:20309637  
PMID:20331378   PMID:20503287   PMID:20532927   PMID:20554961   PMID:20574843   PMID:20588308   PMID:21057730   PMID:21115688   PMID:21223583   PMID:21411783   PMID:21466707   PMID:21757613  
PMID:21854986   PMID:21873635   PMID:22204827   PMID:22315404   PMID:22332739   PMID:22482409   PMID:22570109   PMID:22571879   PMID:22610275   PMID:22685550   PMID:22731491   PMID:22739040  
PMID:22783022   PMID:22814248   PMID:22885264   PMID:22951153   PMID:23055569   PMID:23100517   PMID:23184955   PMID:23213068   PMID:23255800   PMID:23437155   PMID:23913484   PMID:24089560  
PMID:24269682   PMID:24460759   PMID:24465874   PMID:24636575   PMID:24709112   PMID:24785737   PMID:24866020   PMID:25049393   PMID:25678471   PMID:25734487   PMID:25768396   PMID:25793917  
PMID:25837663   PMID:25972534   PMID:25982860   PMID:25995245   PMID:26186194   PMID:26656698   PMID:26679999   PMID:26719253   PMID:27081760   PMID:27087087   PMID:27342040   PMID:27403569  
PMID:27917878   PMID:28222623   PMID:28327460   PMID:28514442   PMID:28615266   PMID:28675934   PMID:28958921   PMID:29235261   PMID:29475588   PMID:29555233   PMID:29673453   PMID:29715456  
PMID:30021884   PMID:30324266   PMID:30507062   PMID:30936491   PMID:32127666   PMID:32296183   PMID:32418715   PMID:32661059   PMID:32757451   PMID:33628210   PMID:33961781   PMID:36509151  
PMID:36622131   PMID:38077399  


Genomics

Comparative Map Data
IFNA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38921,384,255 - 21,385,398 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl921,384,255 - 21,385,398 (-)EnsemblGRCh38hg38GRCh38
GRCh37921,384,254 - 21,385,397 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36921,374,254 - 21,375,396 (-)NCBINCBI36Build 36hg18NCBI36
Build 34921,374,253 - 21,375,396NCBI
Celera921,322,568 - 21,323,710 (-)NCBICelera
Cytogenetic Map9p21.3NCBI
HuRef921,347,656 - 21,348,798 (-)NCBIHuRef
CHM1_1921,384,072 - 21,385,214 (-)NCBICHM1_1
T2T-CHM13v2.0921,398,432 - 21,399,575 (-)NCBIT2T-CHM13v2.0
LOC100972354
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211103,147,073 - 103,148,272 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19103,153,018 - 103,154,217 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0921,245,017 - 21,246,210 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1921,862,557 - 21,863,690 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl921,863,062 - 21,863,736 (-)Ensemblpanpan1.1panPan2
IFNA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11258,468,018 - 58,469,825 (+)NCBIChlSab1.1ChlSab1.1chlSab2

Variants

.
Variants in IFNA2
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p21.3(chr9:21082471-23839529)x1 copy number loss See cases [RCV000052902] Chr9:21082471..23839529 [GRCh38]
Chr9:21082470..23839527 [GRCh37]
Chr9:21072470..23829527 [NCBI36]
Chr9:9p21.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3 copy number gain See cases [RCV000053749] Chr9:9543538..30266463 [GRCh38]
Chr9:9543538..30266461 [GRCh37]
Chr9:9533538..30256461 [NCBI36]
Chr9:9p23-21.1
pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3
pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1 copy number loss See cases [RCV000139905] Chr9:19564275..28106622 [GRCh38]
Chr9:19564273..28106620 [GRCh37]
Chr9:19554273..28096620 [NCBI36]
Chr9:9p22.1-21.1
pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2
pathogenic
GRCh38/hg38 9p21.3(chr9:21150820-21517343)x3 copy number gain See cases [RCV000140758] Chr9:21150820..21517343 [GRCh38]
Chr9:21150819..21517342 [GRCh37]
Chr9:21140819..21507342 [NCBI36]
Chr9:9p21.3
likely benign
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p21.3(chr9:21384383-21409159)x1 copy number loss See cases [RCV000447205] Chr9:21384383..21409159 [GRCh37]
Chr9:9p21.3
likely benign
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p21.3(chr9:20951885-22447709)x1 copy number loss See cases [RCV000448195] Chr9:20951885..22447709 [GRCh37]
Chr9:9p21.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p22.2-21.1(chr9:17684434-30889762)x3 copy number gain See cases [RCV000510665] Chr9:17684434..30889762 [GRCh37]
Chr9:9p22.2-21.1
pathogenic
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 copy number gain See cases [RCV000510425] Chr9:5900425..30008330 [GRCh37]
Chr9:9p24.1-21.1
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3
pathogenic
GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626433] Chr9:10320113..26205565 [GRCh37]
Chr9:9p23-21.2
drug response
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
Single allele duplication Schizophrenia [RCV000754362] Chr9:20655425..24580688 [GRCh38]
Chr9:9p21.3
likely pathogenic
GRCh37/hg19 9p21.3(chr9:20834837-22101120)x1 copy number loss not provided [RCV000748288] Chr9:20834837..22101120 [GRCh37]
Chr9:9p21.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3
pathogenic
NM_000605.4(IFNA2):c.137G>A (p.Arg46Lys) single nucleotide variant not provided [RCV000968642] Chr9:21385193 [GRCh38]
Chr9:21385192 [GRCh37]
Chr9:9p21.3
benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000605.4(IFNA2):c.170A>G (p.His57Arg) single nucleotide variant not provided [RCV000965103] Chr9:21385160 [GRCh38]
Chr9:21385159 [GRCh37]
Chr9:9p21.3
benign
NM_000605.4(IFNA2):c.513G>A (p.Met171Ile) single nucleotide variant not provided [RCV000959047] Chr9:21384817 [GRCh38]
Chr9:21384816 [GRCh37]
Chr9:9p21.3
benign
GRCh37/hg19 9p21.3(chr9:20715401-22136489) copy number loss not provided [RCV000767562] Chr9:20715401..22136489 [GRCh37]
Chr9:9p21.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p21.3(chr9:20829681-22069144)x3 copy number gain not provided [RCV001006222] Chr9:20829681..22069144 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_000605.4(IFNA2):c.17C>A (p.Ala6Asp) single nucleotide variant not provided [RCV000959048] Chr9:21385313 [GRCh38]
Chr9:21385312 [GRCh37]
Chr9:9p21.3
benign
NM_000605.4(IFNA2):c.537C>T (p.Asn179=) single nucleotide variant not provided [RCV000962365] Chr9:21384793 [GRCh38]
Chr9:21384792 [GRCh37]
Chr9:9p21.3
benign
GRCh37/hg19 9p21.3(chr9:20659492-22347440)x3 copy number gain not provided [RCV002473498] Chr9:20659492..22347440 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33
likely pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32
pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1
likely pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11
pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3
pathogenic
NM_000605.4(IFNA2):c.541C>A (p.Gln181Lys) single nucleotide variant Inborn genetic diseases [RCV002945601] Chr9:21384789 [GRCh38]
Chr9:21384788 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_000605.4(IFNA2):c.401T>C (p.Met134Thr) single nucleotide variant Inborn genetic diseases [RCV002836569] Chr9:21384929 [GRCh38]
Chr9:21384928 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_000605.4(IFNA2):c.451C>T (p.Leu151Phe) single nucleotide variant Inborn genetic diseases [RCV002704334] Chr9:21384879 [GRCh38]
Chr9:21384878 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_000605.4(IFNA2):c.257T>C (p.Ile86Thr) single nucleotide variant Inborn genetic diseases [RCV002874927] Chr9:21385073 [GRCh38]
Chr9:21385072 [GRCh37]
Chr9:9p21.3
likely benign
NM_000605.4(IFNA2):c.544G>C (p.Glu182Gln) single nucleotide variant Inborn genetic diseases [RCV002874928] Chr9:21384786 [GRCh38]
Chr9:21384785 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_000605.4(IFNA2):c.244A>G (p.Met82Val) single nucleotide variant Inborn genetic diseases [RCV002900932] Chr9:21385086 [GRCh38]
Chr9:21385085 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_000605.4(IFNA2):c.376G>T (p.Val126Leu) single nucleotide variant Inborn genetic diseases [RCV002898141] Chr9:21384954 [GRCh38]
Chr9:21384953 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_000605.4(IFNA2):c.197T>C (p.Phe66Ser) single nucleotide variant Inborn genetic diseases [RCV003200263] Chr9:21385133 [GRCh38]
Chr9:21385132 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_000605.4(IFNA2):c.376G>A (p.Val126Met) single nucleotide variant Inborn genetic diseases [RCV003211283] Chr9:21384954 [GRCh38]
Chr9:21384953 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_000605.4(IFNA2):c.361T>G (p.Cys121Gly) single nucleotide variant Inborn genetic diseases [RCV003213257] Chr9:21384969 [GRCh38]
Chr9:21384968 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:128
Count of miRNA genes:115
Interacting mature miRNAs:115
Transcripts:ENST00000380206
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-35327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37921,384,476 - 21,384,690UniSTSGRCh37
Build 36921,374,476 - 21,374,690RGDNCBI36
Celera921,322,790 - 21,323,004RGD
Cytogenetic Map9p22UniSTS
HuRef921,347,878 - 21,348,092UniSTS
GeneMap99-G3 RH Map9733.0UniSTS
STS-J00207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37921,384,456 - 21,384,675UniSTSGRCh37
Build 36921,374,456 - 21,374,675RGDNCBI36
Celera921,322,770 - 21,322,989RGD
Cytogenetic Map9p22UniSTS
HuRef921,347,858 - 21,348,077UniSTS
GeneMap99-GB4 RH Map968.06UniSTS
NCBI RH Map9230.1UniSTS
UniSTS:481663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37921,384,312 - 21,385,378UniSTSGRCh37
Celera921,322,626 - 21,323,692UniSTS
HuRef921,347,714 - 21,348,780UniSTS
UniSTS:482177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37921,384,712 - 21,385,372UniSTSGRCh37
Celera921,323,026 - 21,323,686UniSTS
HuRef921,348,114 - 21,348,774UniSTS
UniSTS:489668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37921,384,569 - 21,385,373UniSTSGRCh37
Celera921,322,883 - 21,323,687UniSTS
HuRef921,347,971 - 21,348,775UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 63
Low 2 1 319 2 1 109 39 2 4 2
Below cutoff 228 146 72 12 212 7 310 151 1877 9 362 74 5 182 179

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL353732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY255838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB652838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN591568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN591569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN591570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN848522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY780371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M28028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M54886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OR001901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S64979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S64991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S64994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000380206   ⟹   ENSP00000369554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl921,384,255 - 21,385,398 (-)Ensembl
RefSeq Acc Id: NM_000605   ⟹   NP_000596
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38921,384,255 - 21,385,398 (-)NCBI
GRCh37921,384,254 - 21,385,396 (-)ENTREZGENE
Build 36921,374,254 - 21,375,396 (-)NCBI Archive
HuRef921,347,656 - 21,348,798 (-)ENTREZGENE
CHM1_1921,384,072 - 21,385,214 (-)NCBI
T2T-CHM13v2.0921,398,432 - 21,399,575 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000596 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36119 (Get FASTA)   NCBI Sequence Viewer  
  AAA52715 (Get FASTA)   NCBI Sequence Viewer  
  AAA59181 (Get FASTA)   NCBI Sequence Viewer  
  AAB59402 (Get FASTA)   NCBI Sequence Viewer  
  AAD13960 (Get FASTA)   NCBI Sequence Viewer  
  AAD13961 (Get FASTA)   NCBI Sequence Viewer  
  AAD13962 (Get FASTA)   NCBI Sequence Viewer  
  AAH74936 (Get FASTA)   NCBI Sequence Viewer  
  AAH74937 (Get FASTA)   NCBI Sequence Viewer  
  AAI04164 (Get FASTA)   NCBI Sequence Viewer  
  AAI04165 (Get FASTA)   NCBI Sequence Viewer  
  AAP20099 (Get FASTA)   NCBI Sequence Viewer  
  AAS92248 (Get FASTA)   NCBI Sequence Viewer  
  AET86951 (Get FASTA)   NCBI Sequence Viewer  
  AEX60802 (Get FASTA)   NCBI Sequence Viewer  
  AEX60803 (Get FASTA)   NCBI Sequence Viewer  
  AEX60804 (Get FASTA)   NCBI Sequence Viewer  
  ATU32952 (Get FASTA)   NCBI Sequence Viewer  
  CAA23805 (Get FASTA)   NCBI Sequence Viewer  
  CAA23809 (Get FASTA)   NCBI Sequence Viewer  
  CAA23810 (Get FASTA)   NCBI Sequence Viewer  
  CAA72532 (Get FASTA)   NCBI Sequence Viewer  
  CAG46719 (Get FASTA)   NCBI Sequence Viewer  
  CAR97164 (Get FASTA)   NCBI Sequence Viewer  
  EAW58611 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000369554
  ENSP00000369554.2
GenBank Protein P01563 (Get FASTA)   NCBI Sequence Viewer  
  WLR90796 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000596   ⟸   NM_000605
- Peptide Label: precursor
- UniProtKB: Q6DJX8 (UniProtKB/Swiss-Prot),   Q14606 (UniProtKB/Swiss-Prot),   P01564 (UniProtKB/Swiss-Prot),   H2DF55 (UniProtKB/Swiss-Prot),   H2DF54 (UniProtKB/Swiss-Prot),   Q96KI6 (UniProtKB/Swiss-Prot),   P01563 (UniProtKB/Swiss-Prot),   A0AA50CIE2 (UniProtKB/TrEMBL),   A0A7R8GUN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000369554   ⟸   ENST00000380206

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01563-F1-model_v2 AlphaFold P01563 1-188 view protein structure

Promoters
RGD ID:6807784
Promoter ID:HG_KWN:62787
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003ZPB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36921,375,084 - 21,375,584 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5423 AgrOrtholog
COSMIC IFNA2 COSMIC
Ensembl Genes ENSG00000188379 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000380206 ENTREZGENE
  ENST00000380206.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000188379 GTEx
HGNC ID HGNC:5423 ENTREZGENE
Human Proteome Map IFNA2 Human Proteome Map
InterPro 4_helix_cytokine-like_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Interferon_alpha/beta/delta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3440 ENTREZGENE
OMIM 147562 OMIM
PANTHER INTERFERON ALPHA-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11691 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Interferon UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29662 PharmGKB
PRINTS INTERFERONAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE INTERFERON_A_B_D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IFabd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47266 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7R8GUN5 ENTREZGENE, UniProtKB/TrEMBL
  A0AA50CIE2 ENTREZGENE, UniProtKB/TrEMBL
  H2DF54 ENTREZGENE
  H2DF55 ENTREZGENE
  IFNA2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P01564 ENTREZGENE
  Q14606 ENTREZGENE
  Q6DJX8 ENTREZGENE
  Q96KI6 ENTREZGENE
UniProt Secondary H2DF54 UniProtKB/Swiss-Prot
  H2DF55 UniProtKB/Swiss-Prot
  P01564 UniProtKB/Swiss-Prot
  Q14606 UniProtKB/Swiss-Prot
  Q6DJX8 UniProtKB/Swiss-Prot
  Q96KI6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 IFNA2  interferon alpha 2    interferon, alpha 2  Symbol and/or name change 5135510 APPROVED