AKIRIN2 (akirin 2) - Rat Genome Database

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Gene: AKIRIN2 (akirin 2) Homo sapiens
Analyze
Symbol: AKIRIN2
Name: akirin 2
RGD ID: 1317188
HGNC Page HGNC:21407
Description: Enables enzyme binding activity; identical protein binding activity; and protein-macromolecule adaptor activity. Involved in proteasome localization and protein import into nucleus. Acts upstream of with a positive effect on nuclear protein quality control by the ubiquitin-proteasome system. Located in nucleoplasm. Is active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: akirin-2; C6orf166; dJ486L4.2; FBI1; FLJ10342; fourteen-three-three beta interactant 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AKIRIN2P1   LOC100216488  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38687,674,860 - 87,702,233 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl687,674,860 - 87,702,233 (-)EnsemblGRCh38hg38GRCh38
GRCh37688,384,578 - 88,411,951 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36688,441,693 - 88,468,645 (-)NCBINCBI36Build 36hg18NCBI36
Build 34688,441,693 - 88,468,645NCBI
Celera688,802,600 - 88,830,001 (-)NCBICelera
Cytogenetic Map6q15NCBI
HuRef685,599,770 - 85,627,163 (-)NCBIHuRef
CHM1_1688,481,916 - 88,509,380 (-)NCBICHM1_1
T2T-CHM13v2.0688,883,172 - 88,910,565 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (IBA,IEA)
cytoplasm  (IEA)
membrane  (IEA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)
transcription repressor complex  (IEA,ISO,ISS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. A novel binding factor of 14-3-3beta functions as a transcriptional repressor and promotes anchorage-independent growth, tumorigenicity, and metastasis. Komiya Y, etal., J Biol Chem. 2008 Jul 4;283(27):18753-64. Epub 2008 May 5.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14574404   PMID:14702039   PMID:15489334   PMID:16189514   PMID:17081983   PMID:18066067   PMID:19200367   PMID:19322201   PMID:21873635   PMID:23382074  
PMID:26036627   PMID:26496610   PMID:27503909   PMID:27609421   PMID:28514442   PMID:28605346   PMID:29945498   PMID:30886152   PMID:31515488   PMID:32296183   PMID:32513696   PMID:33961781  
PMID:34373451   PMID:34711951   PMID:35271311  


Genomics

Comparative Map Data
AKIRIN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38687,674,860 - 87,702,233 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl687,674,860 - 87,702,233 (-)EnsemblGRCh38hg38GRCh38
GRCh37688,384,578 - 88,411,951 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36688,441,693 - 88,468,645 (-)NCBINCBI36Build 36hg18NCBI36
Build 34688,441,693 - 88,468,645NCBI
Celera688,802,600 - 88,830,001 (-)NCBICelera
Cytogenetic Map6q15NCBI
HuRef685,599,770 - 85,627,163 (-)NCBIHuRef
CHM1_1688,481,916 - 88,509,380 (-)NCBICHM1_1
T2T-CHM13v2.0688,883,172 - 88,910,565 (-)NCBIT2T-CHM13v2.0
Akirin2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39434,550,615 - 34,566,930 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl434,550,937 - 34,566,908 (+)EnsemblGRCm39 Ensembl
GRCm38434,550,615 - 34,566,965 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl434,550,937 - 34,566,908 (+)EnsemblGRCm38mm10GRCm38
MGSCv37434,497,864 - 34,514,157 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36434,739,502 - 34,755,795 (+)NCBIMGSCv36mm8
Celera434,280,341 - 34,296,487 (+)NCBICelera
Cytogenetic Map4A5NCBI
cM Map416.8NCBI
Akirin2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8553,897,792 - 53,918,873 (+)NCBIGRCr8
mRatBN7.2549,108,231 - 49,122,566 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl549,108,220 - 49,122,568 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx551,301,281 - 51,315,616 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0552,901,514 - 52,915,849 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0552,807,415 - 52,821,750 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0550,001,945 - 50,016,544 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl550,002,184 - 50,016,539 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0554,571,149 - 54,585,491 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4551,152,935 - 51,167,720 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1551,153,288 - 51,167,962 (+)NCBI
Celera547,859,124 - 47,873,161 (+)NCBICelera
Cytogenetic Map5q21NCBI
Akirin2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541114,600,106 - 14,619,069 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541114,600,106 - 14,619,374 (-)NCBIChiLan1.0ChiLan1.0
AKIRIN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25107,754,665 - 107,784,592 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16105,648,490 - 105,677,166 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0685,549,728 - 85,577,114 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1688,829,673 - 88,850,443 (-)NCBIpanpan1.1PanPan1.1panPan2
AKIRIN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11247,113,856 - 47,132,800 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1247,113,857 - 47,132,555 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1246,920,926 - 46,940,125 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01247,919,212 - 47,938,390 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1247,888,213 - 47,938,830 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11247,211,733 - 47,230,919 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01247,138,797 - 47,157,966 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01247,328,532 - 47,347,744 (-)NCBIUU_Cfam_GSD_1.0
Akirin2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494682,248,594 - 82,274,206 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365104,216,955 - 4,221,962 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365104,216,893 - 4,221,962 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AKIRIN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl156,046,327 - 56,070,163 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1156,047,188 - 56,075,342 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2162,790,860 - 62,818,337 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AKIRIN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11312,146,228 - 12,175,198 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040188,401,656 - 188,427,615 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Akirin2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247996,625,549 - 6,644,286 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247996,620,102 - 6,644,286 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AKIRIN2
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1 copy number loss See cases [RCV000052192] Chr6:82569098..93753476 [GRCh38]
Chr6:83278815..94463194 [GRCh37]
Chr6:83335534..94519915 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 copy number loss See cases [RCV000135773] Chr6:83838303..98822313 [GRCh38]
Chr6:84548022..99270189 [GRCh37]
Chr6:84604741..99376910 [NCBI36]
Chr6:6q14.2-16.1		 pathogenic
GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1 copy number loss See cases [RCV000135450] Chr6:85804273..93189258 [GRCh38]
Chr6:86513991..93898976 [GRCh37]
Chr6:86570710..93955697 [NCBI36]
Chr6:6q14.3-16.1		 pathogenic
GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1 copy number loss See cases [RCV000136757] Chr6:85370716..90669793 [GRCh38]
Chr6:86080434..91379512 [GRCh37]
Chr6:86137153..91436233 [NCBI36]
Chr6:6q14.3-15		 pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 copy number loss See cases [RCV000143505] Chr6:75926199..92710793 [GRCh38]
Chr6:76635916..93420511 [GRCh37]
Chr6:76692636..93477232 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 copy number loss See cases [RCV002292710] Chr6:78911022..98909173 [GRCh37]
Chr6:6q14.1-16.1		 uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 copy number gain not provided [RCV000682688] Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1		 pathogenic
Single allele deletion not provided [RCV000677932] Chr6:83319012..91907669 [GRCh37]
Chr6:6q14.1-15		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_018064.4(AKIRIN2):c.600C>T (p.Ser200=) single nucleotide variant not provided [RCV000967005] Chr6:87675861 [GRCh38]
Chr6:88385579 [GRCh37]
Chr6:6q15		 benign
GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1 copy number loss not provided [RCV000848967] Chr6:87627836..93698486 [GRCh37]
Chr6:6q14.3-16.1		 uncertain significance
GRCh37/hg19 6q15(chr6:88153915-88418531)x3 copy number gain not provided [RCV000847954] Chr6:88153915..88418531 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q15(chr6:88153915-88410050)x3 copy number gain not provided [RCV000848261] Chr6:88153915..88410050 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1 copy number loss not provided [RCV001005826] Chr6:86024761..90023713 [GRCh37]
Chr6:6q14.3-15		 pathogenic
NM_018064.4(AKIRIN2):c.379+4A>G single nucleotide variant not provided [RCV000953730] Chr6:87681616 [GRCh38]
Chr6:88391334 [GRCh37]
Chr6:6q15		 benign
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) copy number gain not specified [RCV002053581] Chr6:69938252..94379210 [GRCh37]
Chr6:6q12-16.1		 pathogenic
NM_018064.4(AKIRIN2):c.83C>G (p.Ala28Gly) single nucleotide variant Inborn genetic diseases [RCV003305757] Chr6:87701602 [GRCh38]
Chr6:88411320 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q14.3-15(chr6:86098133-88663964)x3 copy number gain not provided [RCV002474634] Chr6:86098133..88663964 [GRCh37]
Chr6:6q14.3-15		 uncertain significance
NM_018064.4(AKIRIN2):c.62C>T (p.Ser21Phe) single nucleotide variant Inborn genetic diseases [RCV002649183] Chr6:87701623 [GRCh38]
Chr6:88411341 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1 copy number loss not provided [RCV003482926] Chr6:88018122..94565168 [GRCh37]
Chr6:6q15-16.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:326
Count of miRNA genes:282
Interacting mature miRNAs:304
Transcripts:ENST00000257787, ENST00000420494
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 1
Medium 2388 2841 1704 604 1936 446 4354 2074 3515 398 1444 1607 171 1204 2787 3
Low 50 150 21 20 15 19 2 123 217 21 14 6 4 1 1 3 2
Below cutoff 1 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000257787   ⟹   ENSP00000257787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl687,674,860 - 87,702,233 (-)Ensembl
RefSeq Acc Id: ENST00000420494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl687,700,510 - 87,701,525 (-)Ensembl
RefSeq Acc Id: NM_018064   ⟹   NP_060534
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38687,674,860 - 87,702,233 (-)NCBI
GRCh37688,384,578 - 88,411,985 (-)RGD
Build 36688,441,693 - 88,468,645 (-)NCBI Archive
Celera688,802,600 - 88,830,001 (-)RGD
HuRef685,599,770 - 85,627,163 (-)RGD
CHM1_1688,481,916 - 88,509,380 (-)NCBI
T2T-CHM13v2.0688,883,172 - 88,910,565 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_060534   ⟸   NM_018064
- UniProtKB: Q9BQB1 (UniProtKB/Swiss-Prot),   Q53H80 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000257787   ⟸   ENST00000257787

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q53H80-F1-model_v2 AlphaFold Q53H80 1-203 view protein structure

Promoters
RGD ID:7208661
Promoter ID:EPDNEW_H10075
Type:initiation region
Name:AKIRIN2_2
Description:akirin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10076  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38687,701,876 - 87,701,936EPDNEW
RGD ID:7208659
Promoter ID:EPDNEW_H10076
Type:initiation region
Name:AKIRIN2_1
Description:akirin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10075  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38687,702,233 - 87,702,293EPDNEW
RGD ID:6803755
Promoter ID:HG_KWN:54311
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:NM_018064
Position:
Human AssemblyChrPosition (strand)Source
Build 36688,468,546 - 88,469,107 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21407 AgrOrtholog
COSMIC AKIRIN2 COSMIC
Ensembl Genes ENSG00000135334 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000257787 ENTREZGENE
  ENST00000257787.6 UniProtKB/Swiss-Prot
GTEx ENSG00000135334 GTEx
HGNC ID HGNC:21407 ENTREZGENE
Human Proteome Map AKIRIN2 Human Proteome Map
InterPro Akirin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55122 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55122 ENTREZGENE
OMIM 615165 OMIM
PANTHER AKIRIN-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13293 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162376195 PharmGKB
UniProt AKIR2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9BQB1 ENTREZGENE
  Q9NW35_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q9BQB1 UniProtKB/Swiss-Prot