HNRNPA2B1 (heterogeneous nuclear ribonucleoprotein A2/B1) - Rat Genome Database
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Gene: HNRNPA2B1 (heterogeneous nuclear ribonucleoprotein A2/B1) Homo sapiens
Analyze
Symbol: HNRNPA2B1
Name: heterogeneous nuclear ribonucleoprotein A2/B1
RGD ID: 1321287
HGNC Page HGNC
Description: Exhibits identical protein binding activity and nucleic acid binding activity. Involved in RNA processing and RNA transport. Localizes to cytoplasm; extracellular exosome; and nucleus. Implicated in inclusion body myopathy with Paget disease of bone and frontotemporal dementia and inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2. Biomarker of Alzheimer's disease; hepatocellular carcinoma; and lung non-small cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp779B0244; FLJ22720; heterogeneous nuclear ribonucleoprotein B1; heterogeneous nuclear ribonucleoproteins A2/B1; hnRNP A2 / hnRNP B1; hnRNP A2/B1; HNRNPA2; HNRNPA2B1/MYC fusion; HNRNPB1; HNRPA2; HNRPA2B1; HNRPB1; IBMPFD2; nuclear ribonucleoprotein particle A2 protein; RNPA2; SNRPB1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl726,173,057 - 26,201,529 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl726,171,151 - 26,201,529 (-)EnsemblGRCh38hg38GRCh38
GRCh38726,189,920 - 26,200,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37726,229,547 - 26,240,413 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36726,196,081 - 26,206,938 (-)NCBINCBI36hg18NCBI36
Build 34726,004,706 - 26,013,606NCBI
Celera726,218,541 - 26,229,398 (-)NCBI
Cytogenetic Map7p15.2NCBI
HuRef726,111,470 - 26,122,327 (-)NCBIHuRef
CHM1_1726,222,782 - 26,233,627 (-)NCBICHM1_1
CRA_TCAGchr7v2726,280,706 - 26,291,563 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-phenylbutyric acid  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
9-cis-retinoic acid  (EXP)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
aldosterone  (ISO)
all-trans-retinoic acid  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
buspirone  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
canrenoic acid  (ISO)
carbon nanotube  (EXP,ISO)
chloropicrin  (EXP)
choline  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
cyclosporin A  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibenzo[a,l]pyrene  (EXP)
dicrotophos  (EXP)
dihydroartemisinin  (EXP)
disulfiram  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (EXP)
eurycomanone  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
graphite  (EXP)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
ketamine  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
miconazole  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methylformamide  (ISO)
nefazodone  (ISO)
ouabain  (EXP)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
PCB138  (ISO)
pentanal  (EXP)
phenytoin  (ISO)
quercetin  (EXP,ISO)
raloxifene  (EXP)
resveratrol  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
succimer  (ISO)
sunitinib  (EXP)
T-2 toxin  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP)
tributylstannane  (EXP)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
triphenylstannane  (EXP)
tunicamycin  (EXP)
urethane  (EXP,ISO)
valproic acid  (EXP)
vanadyl sulfate  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1602151   PMID:1699755   PMID:1833625   PMID:2557628   PMID:3733753   PMID:7503735   PMID:7789969   PMID:8029005   PMID:9187682   PMID:9731529   PMID:9761751   PMID:10381337  
PMID:10441480   PMID:10567417   PMID:10772824   PMID:10978504   PMID:11510693   PMID:11517223   PMID:11771750   PMID:11790298   PMID:11991638   PMID:12060656   PMID:12065097   PMID:12097415  
PMID:12226669   PMID:12243756   PMID:12477932   PMID:12509629   PMID:12565831   PMID:12927788   PMID:12945950   PMID:14559993   PMID:14608468   PMID:14692562   PMID:15047060   PMID:15147968  
PMID:15302935   PMID:15375589   PMID:15518812   PMID:15567486   PMID:15659580   PMID:15703215   PMID:15782174   PMID:15848144   PMID:15975576   PMID:16000324   PMID:16009940   PMID:16159877  
PMID:16196087   PMID:16226712   PMID:16230076   PMID:16294306   PMID:16344560   PMID:16464861   PMID:16611982   PMID:16775011   PMID:16859514   PMID:16889989   PMID:16964243   PMID:17004321  
PMID:17067748   PMID:17267499   PMID:17289661   PMID:17332742   PMID:17611602   PMID:17620599   PMID:17643375   PMID:17955473   PMID:17991743   PMID:18029348   PMID:18032920   PMID:18377426  
PMID:18391021   PMID:18457437   PMID:18461365   PMID:18519039   PMID:19037095   PMID:19609729   PMID:19738201   PMID:19928837   PMID:19934309   PMID:19946888   PMID:20000738   PMID:20010808  
PMID:20016921   PMID:20020773   PMID:20133837   PMID:20181627   PMID:20201926   PMID:20232340   PMID:20301649   PMID:20348541   PMID:20462248   PMID:20467437   PMID:20471030   PMID:20618440  
PMID:20850016   PMID:20946641   PMID:20978319   PMID:21081503   PMID:21081666   PMID:21139048   PMID:21145461   PMID:21175803   PMID:21182205   PMID:21280222   PMID:21321999   PMID:21547579  
PMID:21565611   PMID:21575865   PMID:21642356   PMID:21642987   PMID:21784977   PMID:21853274   PMID:21858080   PMID:21865391   PMID:21873635   PMID:21890473   PMID:21900206   PMID:21900255  
PMID:21906983   PMID:21907836   PMID:21942715   PMID:21951318   PMID:21963094   PMID:22053931   PMID:22079093   PMID:22113938   PMID:22119785   PMID:22174317   PMID:22178446   PMID:22187150  
PMID:22199357   PMID:22205302   PMID:22268729   PMID:22325225   PMID:22372738   PMID:22412018   PMID:22484615   PMID:22505724   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22720776  
PMID:22810585   PMID:22863883   PMID:22939629   PMID:22944692   PMID:22990118   PMID:23000965   PMID:23125841   PMID:23166591   PMID:23184937   PMID:23246001   PMID:23255806   PMID:23398456  
PMID:23443559   PMID:23463506   PMID:23593027   PMID:23658645   PMID:23697369   PMID:23798571   PMID:23827524   PMID:23976881   PMID:24098712   PMID:24119545   PMID:24157614   PMID:24189400  
PMID:24189637   PMID:24244333   PMID:24332808   PMID:24337577   PMID:24356509   PMID:24376828   PMID:24418537   PMID:24457600   PMID:24549040   PMID:24591637   PMID:24612671   PMID:24625528  
PMID:24654937   PMID:24675500   PMID:24690621   PMID:24711643   PMID:24823909   PMID:24920338   PMID:24965446   PMID:24998203   PMID:25015289   PMID:25124043   PMID:25147182   PMID:25169827  
PMID:25277244   PMID:25324306   PMID:25349213   PMID:25378556   PMID:25437307   PMID:25483567   PMID:25515538   PMID:25586062   PMID:25678563   PMID:25702638   PMID:25796446   PMID:25798074  
PMID:25900982   PMID:25921289   PMID:25948554   PMID:25959826   PMID:25963833   PMID:26011126   PMID:26170170   PMID:26176628   PMID:26209609   PMID:26217791   PMID:26318153   PMID:26320552  
PMID:26321680   PMID:26344197   PMID:26446488   PMID:26496610   PMID:26641092   PMID:26693507   PMID:26744327   PMID:26760575   PMID:26774881   PMID:26805816   PMID:26831064   PMID:26979993  
PMID:26990986   PMID:27025967   PMID:27129302   PMID:27158335   PMID:27248496   PMID:27435226   PMID:27473082   PMID:27545878   PMID:27595546   PMID:27609421   PMID:27684187   PMID:27773581  
PMID:27989750   PMID:28027390   PMID:28031328   PMID:28137911   PMID:28162770   PMID:28343865   PMID:28351333   PMID:28389692   PMID:28416769   PMID:28431233   PMID:28443643   PMID:28515276  
PMID:28542905   PMID:28581483   PMID:28611215   PMID:28675297   PMID:28831131   PMID:28850024   PMID:28927264   PMID:28977666   PMID:29117863   PMID:29150431   PMID:29180619   PMID:29212181  
PMID:29229926   PMID:29298432   PMID:29328485   PMID:29331416   PMID:29358076   PMID:29379020   PMID:29395067   PMID:29396485   PMID:29449217   PMID:29467282   PMID:29467491   PMID:29478914  
PMID:29507755   PMID:29511296   PMID:29656893   PMID:29676528   PMID:29791485   PMID:29802200   PMID:29845934   PMID:29859926   PMID:29863498   PMID:29884807   PMID:30009671   PMID:30021884  
PMID:30196744   PMID:30209976   PMID:30320910   PMID:30349055   PMID:30427907   PMID:30442662   PMID:30455355   PMID:30463901   PMID:30575818   PMID:30652415   PMID:30711629   PMID:30719818  
PMID:30725116   PMID:30804502   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31006210   PMID:31010829   PMID:31048545   PMID:31091453   PMID:31099048   PMID:31180492   PMID:31239290  
PMID:31253590   PMID:31263129   PMID:31283707   PMID:31300519   PMID:31320558   PMID:31586073   PMID:31796584   PMID:31894362   PMID:31901866   PMID:31980649   PMID:32006618   PMID:32295924  
PMID:32296183   PMID:32529326   PMID:32694731   PMID:32759322   PMID:32780723   PMID:32786267   PMID:32870271   PMID:32877691  


Genomics

Comparative Map Data
HNRNPA2B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl726,173,057 - 26,201,529 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl726,171,151 - 26,201,529 (-)EnsemblGRCh38hg38GRCh38
GRCh38726,189,920 - 26,200,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37726,229,547 - 26,240,413 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36726,196,081 - 26,206,938 (-)NCBINCBI36hg18NCBI36
Build 34726,004,706 - 26,013,606NCBI
Celera726,218,541 - 26,229,398 (-)NCBI
Cytogenetic Map7p15.2NCBI
HuRef726,111,470 - 26,122,327 (-)NCBIHuRef
CHM1_1726,222,782 - 26,233,627 (-)NCBICHM1_1
CRA_TCAGchr7v2726,280,706 - 26,291,563 (-)NCBI
Hnrnpa2b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39651,437,414 - 51,448,054 (-)NCBIGRCm39mm39
GRCm38651,460,434 - 51,470,048 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl651,460,932 - 51,469,894 (-)EnsemblGRCm38mm10GRCm38
MGSCv37651,410,433 - 51,419,893 (-)NCBIGRCm37mm9NCBIm37
MGSCv36651,390,707 - 51,399,428 (-)NCBImm8
Celera651,978,168 - 51,987,628 (-)NCBICelera
Cytogenetic Map6B3NCBI
Hnrnpa2b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0481,237,496 - 81,241,281 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl481,237,496 - 81,241,282 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04145,903,680 - 145,907,465 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4479,700,327 - 79,704,116 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1479,975,786 - 79,982,624 (-)NCBI
Celera475,439,774 - 75,443,559 (-)NCBICelera
Cytogenetic Map4q24NCBI
Hnrnpa2b1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541028,032,193 - 28,042,459 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541028,032,193 - 28,042,459 (-)NCBIChiLan1.0ChiLan1.0
HNRNPA2B1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1726,439,245 - 26,450,732 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl726,439,443 - 26,449,985 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0726,835,881 - 26,846,578 (-)NCBIMhudiblu_PPA_v0panPan3
HNRNPA2B1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1439,500,897 - 39,508,952 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11439,498,805 - 39,509,034 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Hnrnpa2b1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364782,970,261 - 2,980,277 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HNRNPA2B1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1846,205,418 - 46,215,858 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11846,205,164 - 46,215,861 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21850,980,507 - 50,990,993 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HNRNPA2B1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl2132,167,337 - 32,176,980 (+)Ensembl
ChlSab1.12132,167,126 - 32,178,031 (+)NCBI
Hnrnpa2b1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247394,343,164 - 4,353,123 (+)NCBI

Position Markers
SHGC-56024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37726,229,561 - 26,229,687UniSTSGRCh37
Build 36726,196,086 - 26,196,212RGDNCBI36
Celera726,218,546 - 26,218,672RGD
Cytogenetic Map7p15UniSTS
HuRef726,111,475 - 26,111,601UniSTS
CRA_TCAGchr7v2726,280,711 - 26,280,837UniSTS
GeneMap99-GB4 RH Map7115.82UniSTS
Whitehead-RH Map7100.6UniSTS
HNRPA2B1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37726,233,105 - 26,233,214UniSTSGRCh37
Build 36726,199,630 - 26,199,739RGDNCBI36
Celera726,222,090 - 26,222,199RGD
Cytogenetic Map7p15UniSTS
HuRef726,115,019 - 26,115,128UniSTS
CRA_TCAGchr7v2726,284,255 - 26,284,364UniSTS
SHGC-83036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37726,240,006 - 26,240,198UniSTSGRCh37
Build 36726,206,531 - 26,206,723RGDNCBI36
Celera726,228,991 - 26,229,183RGD
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map7p15UniSTS
HuRef726,121,920 - 26,122,112UniSTS
CRA_TCAGchr7v2726,291,156 - 26,291,348UniSTS
TNG Radiation Hybrid Map712433.0UniSTS
G49184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37726,230,180 - 26,230,390UniSTSGRCh37
Build 36726,196,705 - 26,196,915RGDNCBI36
Celera726,219,165 - 26,219,375RGD
Cytogenetic Map7p15UniSTS
HuRef726,112,094 - 26,112,304UniSTS
CRA_TCAGchr7v2726,281,330 - 26,281,540UniSTS
D7S714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37726,237,070 - 26,237,258UniSTSGRCh37
Build 36726,203,595 - 26,203,783RGDNCBI36
Celera726,226,055 - 26,226,243RGD
Cytogenetic Map7p15UniSTS
HuRef726,118,984 - 26,119,172UniSTS
CRA_TCAGchr7v2726,288,220 - 26,288,408UniSTS
Stanford-G3 RH Map71111.0UniSTS
RH18364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37726,229,829 - 26,230,014UniSTSGRCh37
Build 36726,196,354 - 26,196,539RGDNCBI36
Celera726,218,814 - 26,218,999RGD
Cytogenetic Map7p15UniSTS
HuRef726,111,743 - 26,111,928UniSTS
CRA_TCAGchr7v2726,280,979 - 26,281,164UniSTS
GeneMap99-GB4 RH Map7115.72UniSTS
G20554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37726,229,601 - 26,229,812UniSTSGRCh37
Build 36726,196,126 - 26,196,337RGDNCBI36
Celera726,218,586 - 26,218,797RGD
Cytogenetic Map7p15UniSTS
HuRef726,111,515 - 26,111,726UniSTS
CRA_TCAGchr7v2726,280,751 - 26,280,962UniSTS
A005W29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37726,229,601 - 26,229,812UniSTSGRCh37
Build 36726,196,126 - 26,196,337RGDNCBI36
Celera726,218,586 - 26,218,797RGD
Cytogenetic Map7p15UniSTS
HuRef726,111,515 - 26,111,726UniSTS
CRA_TCAGchr7v2726,280,751 - 26,280,962UniSTS
GeneMap99-GB4 RH Map7115.72UniSTS
MARC_1211-1212:991931105:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37726,231,805 - 26,232,176UniSTSGRCh37
Build 36726,198,330 - 26,198,701RGDNCBI36
Celera726,220,790 - 26,221,161RGD
HuRef726,113,719 - 26,114,090UniSTS
CRA_TCAGchr7v2726,282,955 - 26,283,326UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1573
Count of miRNA genes:730
Interacting mature miRNAs:841
Transcripts:ENST00000354667, ENST00000356674, ENST00000360787, ENST00000463181, ENST00000476233, ENST00000490912, ENST00000495810
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 15 4 34 11 1 17 1 127 39 2 6
Medium 2417 2984 1719 622 1914 464 4344 2192 3692 417 1321 1569 169 1204 2782 4
Low 7 7 3 2 3 1 1 4 25 1 12 5 4 1 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_242076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_242077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_428077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB244417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF125246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354667   ⟹   ENSP00000346694
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,927 - 26,200,746 (-)Ensembl
RefSeq Acc Id: ENST00000356674   ⟹   ENSP00000349101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,191,844 - 26,200,746 (-)Ensembl
RefSeq Acc Id: ENST00000360787   ⟹   ENSP00000354021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,190,125 - 26,200,746 (-)Ensembl
RefSeq Acc Id: ENST00000463181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,190,304 - 26,200,784 (-)Ensembl
RefSeq Acc Id: ENST00000476233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,927 - 26,191,678 (-)Ensembl
RefSeq Acc Id: ENST00000490912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,191,849 - 26,201,529 (-)Ensembl
RefSeq Acc Id: ENST00000495810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,195,712 - 26,196,907 (-)Ensembl
RefSeq Acc Id: ENST00000608362   ⟹   ENSP00000497298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,173,057 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000618183   ⟹   ENSP00000478691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,936 - 26,200,793 (-)Ensembl
RefSeq Acc Id: ENST00000676497   ⟹   ENSP00000503836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,957 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000676524   ⟹   ENSP00000504831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,941 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000676746   ⟹   ENSP00000504329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,941 - 26,201,047 (-)Ensembl
RefSeq Acc Id: ENST00000676749   ⟹   ENSP00000504799
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,184,073 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000676903   ⟹   ENSP00000504660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,171,686 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000676932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000677037   ⟹   ENSP00000504100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,933 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000677075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,200,142 (-)Ensembl
RefSeq Acc Id: ENST00000677321   ⟹   ENSP00000504049
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000677339   ⟹   ENSP00000503242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,171,199 - 26,201,481 (-)Ensembl
RefSeq Acc Id: ENST00000677396   ⟹   ENSP00000503703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,957 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000677571   ⟹   ENSP00000503550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000677574   ⟹   ENSP00000503021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,201,481 (-)Ensembl
RefSeq Acc Id: ENST00000677631   ⟹   ENSP00000503452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,173,571 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000677656   ⟹   ENSP00000503060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,190,149 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000677669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000677839   ⟹   ENSP00000504439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,933 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000677906   ⟹   ENSP00000503870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000678035   ⟹   ENSP00000503190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,200,142 (-)Ensembl
RefSeq Acc Id: ENST00000678075   ⟹   ENSP00000503898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,200,142 (-)Ensembl
RefSeq Acc Id: ENST00000678183   ⟹   ENSP00000503968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,201,047 (-)Ensembl
RefSeq Acc Id: ENST00000678277   ⟹   ENSP00000504059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000678431   ⟹   ENSP00000503833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,943 - 26,201,481 (-)Ensembl
RefSeq Acc Id: ENST00000678449   ⟹   ENSP00000503375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,941 - 26,201,481 (-)Ensembl
RefSeq Acc Id: ENST00000678501   ⟹   ENSP00000503961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,171,418 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000678631   ⟹   ENSP00000503915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,709 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000678675   ⟹   ENSP00000503476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,941 - 26,201,047 (-)Ensembl
RefSeq Acc Id: ENST00000678697   ⟹   ENSP00000503047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,943 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000678779   ⟹   ENSP00000503429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,957 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000678884   ⟹   ENSP00000503501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,190,396 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000678935   ⟹   ENSP00000504023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,941 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000678962   ⟹   ENSP00000504721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,941 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000678973   ⟹   ENSP00000503521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000678998   ⟹   ENSP00000503460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,731 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000679001   ⟹   ENSP00000503514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,941 - 26,201,397 (-)Ensembl
RefSeq Acc Id: ENST00000679021   ⟹   ENSP00000503885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,201,047 (-)Ensembl
RefSeq Acc Id: ENST00000679123   ⟹   ENSP00000503360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,201,397 (-)Ensembl
RefSeq Acc Id: ENST00000679124   ⟹   ENSP00000503236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,189,666 - 26,201,301 (-)Ensembl
RefSeq Acc Id: ENST00000679243   ⟹   ENSP00000504415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,190,132 - 26,201,481 (-)Ensembl
RefSeq Acc Id: ENST00000679318   ⟹   ENSP00000504571
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl726,171,151 - 26,201,301 (-)Ensembl
RefSeq Acc Id: NM_002137   ⟹   NP_002128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,927 - 26,200,746 (-)NCBI
GRCh37726,229,547 - 26,240,413 (-)NCBI
Build 36726,196,081 - 26,206,938 (-)NCBI Archive
HuRef726,111,470 - 26,122,327 (-)ENTREZGENE
CHM1_1726,222,782 - 26,233,627 (-)NCBI
CRA_TCAGchr7v2726,280,706 - 26,291,563 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_031243   ⟹   NP_112533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,927 - 26,200,746 (-)NCBI
GRCh37726,229,547 - 26,240,413 (-)NCBI
Build 36726,196,081 - 26,206,938 (-)NCBI Archive
HuRef726,111,470 - 26,122,327 (-)ENTREZGENE
CHM1_1726,222,782 - 26,233,627 (-)NCBI
CRA_TCAGchr7v2726,280,706 - 26,291,563 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005249729   ⟹   XP_005249786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,927 - 26,200,775 (-)NCBI
GRCh37726,229,547 - 26,240,413 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012109   ⟹   XP_016867598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,920 - 26,200,774 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012110   ⟹   XP_016867599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,927 - 26,200,774 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744662
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,190,125 - 26,200,775 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744663
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,190,125 - 26,200,775 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744664
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,190,125 - 26,200,775 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744665
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,927 - 26,200,775 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744666
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,920 - 26,200,775 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744667
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,190,125 - 26,200,774 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744668
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,190,125 - 26,200,774 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744669
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,190,308 - 26,200,774 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744670
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,927 - 26,200,774 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744671
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,927 - 26,200,774 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744672
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,927 - 26,200,774 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744673
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,920 - 26,200,774 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744674
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,920 - 26,200,774 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744675
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,927 - 26,200,775 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956424
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,927 - 26,200,775 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956425
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,927 - 26,200,774 (-)NCBI
Sequence:
RefSeq Acc Id: XR_242076
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,927 - 26,200,775 (-)NCBI
GRCh37726,229,547 - 26,240,413 (-)NCBI
Sequence:
RefSeq Acc Id: XR_242077
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,920 - 26,200,775 (-)NCBI
GRCh37726,229,547 - 26,240,413 (-)NCBI
Sequence:
RefSeq Acc Id: XR_428077
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,189,927 - 26,200,775 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002128   ⟸   NM_002137
- Peptide Label: isoform A2
- UniProtKB: P22626 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_112533   ⟸   NM_031243
- Peptide Label: isoform B1
- UniProtKB: P22626 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005249786   ⟸   XM_005249729
- Peptide Label: isoform X1
- UniProtKB: P22626 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016867599   ⟸   XM_017012110
- Peptide Label: isoform X2
- UniProtKB: P22626 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016867598   ⟸   XM_017012109
- Peptide Label: isoform X2
- UniProtKB: P22626 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000354021   ⟸   ENST00000360787
RefSeq Acc Id: ENSP00000478691   ⟸   ENST00000618183
RefSeq Acc Id: ENSP00000346694   ⟸   ENST00000354667
RefSeq Acc Id: ENSP00000349101   ⟸   ENST00000356674
RefSeq Acc Id: ENSP00000497298   ⟸   ENST00000608362
RefSeq Acc Id: ENSP00000504660   ⟸   ENST00000676903
RefSeq Acc Id: ENSP00000504329   ⟸   ENST00000676746
RefSeq Acc Id: ENSP00000504799   ⟸   ENST00000676749
RefSeq Acc Id: ENSP00000504831   ⟸   ENST00000676524
RefSeq Acc Id: ENSP00000503836   ⟸   ENST00000676497
RefSeq Acc Id: ENSP00000504100   ⟸   ENST00000677037
RefSeq Acc Id: ENSP00000503021   ⟸   ENST00000677574
RefSeq Acc Id: ENSP00000503550   ⟸   ENST00000677571
RefSeq Acc Id: ENSP00000503703   ⟸   ENST00000677396
RefSeq Acc Id: ENSP00000503242   ⟸   ENST00000677339
RefSeq Acc Id: ENSP00000504049   ⟸   ENST00000677321
RefSeq Acc Id: ENSP00000503870   ⟸   ENST00000677906
RefSeq Acc Id: ENSP00000504439   ⟸   ENST00000677839
RefSeq Acc Id: ENSP00000503452   ⟸   ENST00000677631
RefSeq Acc Id: ENSP00000503060   ⟸   ENST00000677656
RefSeq Acc Id: ENSP00000503190   ⟸   ENST00000678035
RefSeq Acc Id: ENSP00000503898   ⟸   ENST00000678075
RefSeq Acc Id: ENSP00000503375   ⟸   ENST00000678449
RefSeq Acc Id: ENSP00000503833   ⟸   ENST00000678431
RefSeq Acc Id: ENSP00000504059   ⟸   ENST00000678277
RefSeq Acc Id: ENSP00000503968   ⟸   ENST00000678183
RefSeq Acc Id: ENSP00000503501   ⟸   ENST00000678884
RefSeq Acc Id: ENSP00000503429   ⟸   ENST00000678779
RefSeq Acc Id: ENSP00000503047   ⟸   ENST00000678697
RefSeq Acc Id: ENSP00000503476   ⟸   ENST00000678675
RefSeq Acc Id: ENSP00000503915   ⟸   ENST00000678631
RefSeq Acc Id: ENSP00000503961   ⟸   ENST00000678501
RefSeq Acc Id: ENSP00000504023   ⟸   ENST00000678935
RefSeq Acc Id: ENSP00000504721   ⟸   ENST00000678962
RefSeq Acc Id: ENSP00000503521   ⟸   ENST00000678973
RefSeq Acc Id: ENSP00000503460   ⟸   ENST00000678998
RefSeq Acc Id: ENSP00000504571   ⟸   ENST00000679318
RefSeq Acc Id: ENSP00000504415   ⟸   ENST00000679243
RefSeq Acc Id: ENSP00000503360   ⟸   ENST00000679123
RefSeq Acc Id: ENSP00000503236   ⟸   ENST00000679124
RefSeq Acc Id: ENSP00000503514   ⟸   ENST00000679001
RefSeq Acc Id: ENSP00000503885   ⟸   ENST00000679021
Protein Domains
RRM

Promoters
RGD ID:6805768
Promoter ID:HG_KWN:56631
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000327982
Position:
Human AssemblyChrPosition (strand)Source
Build 36726,197,201 - 26,198,772 (-)MPROMDB
RGD ID:7210139
Promoter ID:EPDNEW_H10815
Type:initiation region
Name:HNRNPA2B1_1
Description:heterogeneous nuclear ribonucleoprotein A2/B1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38726,200,746 - 26,200,806EPDNEW
RGD ID:6805769
Promoter ID:HG_KWN:56632
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000327983
Position:
Human AssemblyChrPosition (strand)Source
Build 36726,202,581 - 26,203,707 (-)MPROMDB
RGD ID:6805767
Promoter ID:HG_KWN:56633
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000356674,   ENST00000396395,   ENST00000409814,   OTTHUMT00000214109,   OTTHUMT00000327978,   OTTHUMT00000327979,   OTTHUMT00000327981
Position:
Human AssemblyChrPosition (strand)Source
Build 36726,204,066 - 26,206,972 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_031243.3(HNRNPA2B1):c.833A>G (p.Asn278Ser) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000546068] Chr7:26193619 [GRCh38]
Chr7:26233239 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_002137.4(HNRNPA2B1):c.721+10C>T single nucleotide variant not provided [RCV000552751] Chr7:26195837 [GRCh38]
Chr7:26235457 [GRCh37]
Chr7:7p15.2
likely benign
NM_031243.3(HNRNPA2B1):c.905A>T (p.Asp302Val) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000055652] Chr7:26193346 [GRCh38]
Chr7:26232966 [GRCh37]
Chr7:7p15.2
pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p15.2-14.3(chr7:25511691-30421133)x1 copy number loss See cases [RCV000052310] Chr7:25511691..30421133 [GRCh38]
Chr7:25551310..30460749 [GRCh37]
Chr7:25517835..30427274 [NCBI36]
Chr7:7p15.2-14.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
NM_031243.2(HNRNPA2B1):c.4G>A (p.Glu2Lys) single nucleotide variant Malignant melanoma [RCV000061622] Chr7:26200574 [GRCh38]
Chr7:26240194 [GRCh37]
Chr7:26206719 [NCBI36]
Chr7:7p15.2
not provided
NM_004289.6(NFE2L3):c.1547G>A (p.Trp516Ter) single nucleotide variant Malignant melanoma [RCV000061620] Chr7:26185245 [GRCh38]
Chr7:26224865 [GRCh37]
Chr7:26191390 [NCBI36]
Chr7:7p15.2
not provided
NM_004289.6(NFE2L3):c.1548G>A (p.Trp516Ter) single nucleotide variant Malignant melanoma [RCV000061621] Chr7:26185246 [GRCh38]
Chr7:26224866 [GRCh37]
Chr7:26191391 [NCBI36]
Chr7:7p15.2
not provided
GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1 copy number loss See cases [RCV000134333] Chr7:20210912..27849400 [GRCh38]
Chr7:20250535..27889019 [GRCh37]
Chr7:20217060..27855544 [NCBI36]
Chr7:7p21.1-15.2
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3
pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2
pathogenic
GRCh38/hg38 7p15.2(chr7:25903388-27022498)x1 copy number loss See cases [RCV000140657] Chr7:25903388..27022498 [GRCh38]
Chr7:25943008..27062117 [GRCh37]
Chr7:25909533..27028642 [NCBI36]
Chr7:7p15.2
likely pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 copy number loss See cases [RCV000240125] Chr7:22935369..32621975 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
NM_031243.3(HNRNPA2B1):c.69C>G (p.Leu23=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000544151] Chr7:26197706 [GRCh38]
Chr7:26237326 [GRCh37]
Chr7:7p15.2
likely benign
NM_002137.4(HNRNPA2B1):c.1002T>G (p.Gly334=) single nucleotide variant not specified [RCV000249506] Chr7:26192540 [GRCh38]
Chr7:26232160 [GRCh37]
Chr7:7p15.2
likely benign
NM_002137.4(HNRNPA2B1):c.519A>G (p.Arg173=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000555358]|not specified [RCV000244953] Chr7:26196615 [GRCh38]
Chr7:26236235 [GRCh37]
Chr7:7p15.2
benign
NM_002137.4(HNRNPA2B1):c.645T>C (p.Phe215=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000531531]|not specified [RCV000249930] Chr7:26196414 [GRCh38]
Chr7:26236034 [GRCh37]
Chr7:7p15.2
benign
NM_031243.3(HNRNPA2B1):c.153+4T>C single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000526199]|not specified [RCV000252953] Chr7:26197618 [GRCh38]
Chr7:26237238 [GRCh37]
Chr7:7p15.2
benign
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p15.3-15.2(chr7:25448425-27578387)x3 copy number gain See cases [RCV000447735] Chr7:25448425..27578387 [GRCh37]
Chr7:7p15.3-15.2
likely pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1 copy number loss See cases [RCV000510695] Chr7:24344104..28879357 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_031243.3(HNRNPA2B1):c.351C>T (p.Gly117=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000538214] Chr7:26196967 [GRCh38]
Chr7:26236587 [GRCh37]
Chr7:7p15.2
likely benign
NM_002137.4(HNRNPA2B1):c.669C>T (p.Gly223=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000651713] Chr7:26195899 [GRCh38]
Chr7:26235519 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_002137.4(HNRNPA2B1):c.984_992del (p.329_331SGG[1]) deletion Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000651714] Chr7:26192550..26192558 [GRCh38]
Chr7:26232170..26232178 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_031243.3(HNRNPA2B1):c.324T>C (p.His108=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000651717] Chr7:26196994 [GRCh38]
Chr7:26236614 [GRCh37]
Chr7:7p15.2
benign
NM_031243.3(HNRNPA2B1):c.877+6A>G single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000651716] Chr7:26193569 [GRCh38]
Chr7:26233189 [GRCh37]
Chr7:7p15.2
benign
NM_002137.4(HNRNPA2B1):c.633A>G (p.Pro211=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000651715] Chr7:26196426 [GRCh38]
Chr7:26236046 [GRCh37]
Chr7:7p15.2
likely benign
NM_031243.3(HNRNPA2B1):c.780C>T (p.Pro260=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000533449] Chr7:26193672 [GRCh38]
Chr7:26233292 [GRCh37]
Chr7:7p15.2
likely benign
NM_002137.4(HNRNPA2B1):c.659-4A>G single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000692273] Chr7:26195913 [GRCh38]
Chr7:26235533 [GRCh37]
Chr7:7p15.2
uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_031243.3(HNRNPA2B1):c.183A>G (p.Ser61=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000941673] Chr7:26197432 [GRCh38]
Chr7:26237052 [GRCh37]
Chr7:7p15.2
likely benign
NM_031243.3(HNRNPA2B1):c.1020C>A (p.Gly340=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000876417] Chr7:26192558 [GRCh38]
Chr7:26232178 [GRCh37]
Chr7:7p15.2
likely benign
NM_002137.4(HNRNPA2B1):c.456T>C (p.Asp152=) single nucleotide variant not provided [RCV000914747] Chr7:26196826 [GRCh38]
Chr7:26236446 [GRCh37]
Chr7:7p15.2
likely benign
NM_002137.4(HNRNPA2B1):c.246A>G (p.Lys82=) single nucleotide variant not provided [RCV000877543] Chr7:26197333 [GRCh38]
Chr7:26236953 [GRCh37]
Chr7:7p15.2
likely benign
NM_002137.4(HNRNPA2B1):c.7-142C>T single nucleotide variant not provided [RCV000945669] Chr7:26197874 [GRCh38]
Chr7:26237494 [GRCh37]
Chr7:7p15.2
likely benign
NM_002137.4(HNRNPA2B1):c.842-11dup duplication not provided [RCV000927897] Chr7:26193378..26193379 [GRCh38]
Chr7:26232998..26232999 [GRCh37]
Chr7:7p15.2
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_031243.3(HNRNPA2B1):c.279A>G (p.Pro93=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000875242] Chr7:26197336 [GRCh38]
Chr7:26236956 [GRCh37]
Chr7:7p15.2
benign
NM_031243.3(HNRNPA2B1):c.792A>C (p.Gly264=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000874006] Chr7:26193660 [GRCh38]
Chr7:26233280 [GRCh37]
Chr7:7p15.2
likely benign
NM_002137.4(HNRNPA2B1):c.658+9C>T single nucleotide variant not provided [RCV000936723] Chr7:26196392 [GRCh38]
Chr7:26236012 [GRCh37]
Chr7:7p15.2
likely benign
NM_002137.4(HNRNPA2B1):c.903C>T (p.Tyr301=) single nucleotide variant not provided [RCV000968882] Chr7:26193312 [GRCh38]
Chr7:26232932 [GRCh37]
Chr7:7p15.2
likely benign
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1 copy number loss not provided [RCV001005924] Chr7:23877135..33139446 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
NM_002137.4(HNRNPA2B1):c.591T>C (p.Phe197=) single nucleotide variant not provided [RCV000998780] Chr7:26196468 [GRCh38]
Chr7:26236088 [GRCh37]
Chr7:7p15.2
likely benign
GRCh37/hg19 7p15.2(chr7:26182745-26427208)x3 copy number gain not provided [RCV000848676] Chr7:26182745..26427208 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_002137.4(HNRNPA2B1):c.578-10T>C single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000800777] Chr7:26196491 [GRCh38]
Chr7:26236111 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_031243.3(HNRNPA2B1):c.512-3C>T single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000816053] Chr7:26196661 [GRCh38]
Chr7:26236281 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_002137.4(HNRNPA2B1):c.964+10A>G single nucleotide variant not provided [RCV000874704] Chr7:26193241 [GRCh38]
Chr7:26232861 [GRCh37]
Chr7:7p15.2
benign
NM_031243.3(HNRNPA2B1):c.693T>C (p.Ser231=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000819584] Chr7:26196402 [GRCh38]
Chr7:26236022 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_031243.3(HNRNPA2B1):c.695-7C>G single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000873826] Chr7:26195916 [GRCh38]
Chr7:26235536 [GRCh37]
Chr7:7p15.2
benign
NC_000007.13:g.23236782_30690453del7453672 deletion Silver Russell Syndrome-related disorder [RCV000785664] Chr7:23236782..30690453 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p15.2(chr7:26099497-26445752)x3 copy number gain not provided [RCV000846490] Chr7:26099497..26445752 [GRCh37]
Chr7:7p15.2
uncertain significance
GRCh37/hg19 7p15.2(chr7:26078069-26417400)x3 copy number gain not provided [RCV000848707] Chr7:26078069..26417400 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_002137.4(HNRNPA2B1):c.657T>A (p.Ser219=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV001242924] Chr7:26196402 [GRCh38]
Chr7:26236022 [GRCh37]
Chr7:7p15.2
uncertain significance
GRCh37/hg19 7p15.2(chr7:26000436-26238467)x3 copy number gain not provided [RCV000847088] Chr7:26000436..26238467 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_002137.4(HNRNPA2B1):c.928_930GGT[1] (p.Gly311del) microsatellite Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV001225457]|not provided [RCV000998779] Chr7:26193282..26193284 [GRCh38]
Chr7:26232902..26232904 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_031243.3(HNRNPA2B1):c.7-9T>C single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000908419] Chr7:26197875 [GRCh38]
Chr7:26237495 [GRCh37]
Chr7:7p15.2
likely benign
NM_002137.4(HNRNPA2B1):c.300G>A (p.Lys100=) single nucleotide variant not provided [RCV000932381] Chr7:26196982 [GRCh38]
Chr7:26236602 [GRCh37]
Chr7:7p15.2
likely benign
NM_031243.3(HNRNPA2B1):c.646G>A (p.Gly216Ser) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000874280] Chr7:26196449 [GRCh38]
Chr7:26236069 [GRCh37]
Chr7:7p15.2
likely benign
NM_031243.3(HNRNPA2B1):c.366T>C (p.Asp122=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV000952384] Chr7:26196952 [GRCh38]
Chr7:26236572 [GRCh37]
Chr7:7p15.2
likely benign
NM_002137.4(HNRNPA2B1):c.60C>T (p.Thr20=) single nucleotide variant not provided [RCV000932237] Chr7:26197679 [GRCh38]
Chr7:26237299 [GRCh37]
Chr7:7p15.2
likely benign
NC_000007.14:g.(?_26200562)_(26200587_?)dup duplication Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV001031157] Chr7:26240182..26240207 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_031243.3(HNRNPA2B1):c.1000+5T>G single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [RCV001064022] Chr7:26193246 [GRCh38]
Chr7:26232866 [GRCh37]
Chr7:7p15.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5033 AgrOrtholog
COSMIC HNRNPA2B1 COSMIC
Ensembl Genes ENSG00000122566 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000346694 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000349101 UniProtKB/Swiss-Prot
  ENSP00000354021 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478691 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000497298 UniProtKB/Swiss-Prot
  ENSP00000503060 ENTREZGENE
  ENSP00000503429 ENTREZGENE
Ensembl Transcript ENST00000354667 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000356674 UniProtKB/Swiss-Prot
  ENST00000360787 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000608362 UniProtKB/Swiss-Prot
  ENST00000618183 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000677656 ENTREZGENE
  ENST00000678779 ENTREZGENE
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000122566 GTEx
HGNC ID HGNC:5033 ENTREZGENE
Human Proteome Map HNRNPA2B1 Human Proteome Map
InterPro hnRNP_A2/B1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hnRNPA2B1_RRM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3181 UniProtKB/Swiss-Prot
NCBI Gene 3181 ENTREZGENE
OMIM 600124 OMIM
  615422 OMIM
PANTHER PTHR15241:SF113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162391140 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.487774 ENTREZGENE
UniProt A0A087WUI2_HUMAN UniProtKB/TrEMBL
  I6L957_HUMAN UniProtKB/TrEMBL
  P22626 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A024RA27 UniProtKB/Swiss-Prot
  A0A024RA61 UniProtKB/Swiss-Prot
  A8K064 UniProtKB/Swiss-Prot
  P22627 UniProtKB/Swiss-Prot
  Q9UC98 UniProtKB/Swiss-Prot
  Q9UDJ2 UniProtKB/Swiss-Prot