AZIN2 (antizyme inhibitor 2) - Rat Genome Database

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Gene: AZIN2 (antizyme inhibitor 2) Homo sapiens
Analyze
Symbol: AZIN2
Name: antizyme inhibitor 2
RGD ID: 1606188
HGNC Page HGNC:29957
Description: Enables ornithine decarboxylase activator activity. Involved in negative regulation of protein catabolic process and trans-Golgi network membrane organization. Located in several cellular components, including cytoplasmic vesicle; perikaryon; and trans-Golgi network.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADC; ARGDC; arginine decarboxylase; AZI2; AZIB1; KIAA1945; ODC antizyme inhibitor-2; ODC-p; ODC-paralogue; ODC1L; ODCp; ornithine decarboxylase like; ornithine decarboxylase paralog; ornithine decarboxylase-like protein; ornithine decarboxylase-paralog
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
GRCh38133,081,153 - 33,166,795 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl133,081,104 - 33,123,492 (+)EnsemblGRCh38hg38GRCh38
GRCh37133,546,754 - 33,589,093 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36133,319,301 - 33,358,582 (+)NCBINCBI36Build 36hg18NCBI36
Celera131,816,917 - 31,856,199 (+)NCBICelera
Cytogenetic Map1p35.1NCBI
HuRef131,662,672 - 31,701,953 (+)NCBIHuRef
CHM1_1133,662,239 - 33,701,504 (+)NCBICHM1_1
T2T-CHM13v2.0132,941,046 - 33,025,345 (+)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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11587527   PMID:11853319   PMID:12477932   PMID:14702039   PMID:14738999   PMID:14763899   PMID:15489334   PMID:16710414   PMID:17900240   PMID:19718454   PMID:19756694   PMID:19832840  
PMID:19956990   PMID:20147969   PMID:20188728   PMID:20217058   PMID:21873635   PMID:24967154   PMID:25416956   PMID:26963840   PMID:27591482   PMID:28514442   PMID:29584819   PMID:30545799  
PMID:31182584   PMID:32296183   PMID:33586680   PMID:33961781   PMID:34046926   PMID:34226595   PMID:37704626   PMID:37899497  


Genomics

Comparative Map Data
AZIN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38133,081,153 - 33,166,795 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl133,081,104 - 33,123,492 (+)EnsemblGRCh38hg38GRCh38
GRCh37133,546,754 - 33,589,093 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36133,319,301 - 33,358,582 (+)NCBINCBI36Build 36hg18NCBI36
Celera131,816,917 - 31,856,199 (+)NCBICelera
Cytogenetic Map1p35.1NCBI
HuRef131,662,672 - 31,701,953 (+)NCBIHuRef
CHM1_1133,662,239 - 33,701,504 (+)NCBICHM1_1
T2T-CHM13v2.0132,941,046 - 33,025,345 (+)NCBIT2T-CHM13v2.0
Azin2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394128,824,026 - 128,856,250 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4128,824,026 - 128,856,235 (-)EnsemblGRCm39 Ensembl
GRCm384128,930,233 - 128,962,456 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4128,930,233 - 128,962,442 (-)EnsemblGRCm38mm10GRCm38
MGSCv374128,609,390 - 128,639,661 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364128,434,450 - 128,464,721 (-)NCBIMGSCv36mm8
Celera4127,269,823 - 127,300,290 (-)NCBICelera
Cytogenetic Map4D2.2NCBI
cM Map462.48NCBI
Azin2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85146,568,187 - 146,594,777 (-)NCBIGRCr8
mRatBN7.25141,281,310 - 141,310,415 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5141,281,249 - 141,310,397 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5143,981,604 - 144,008,307 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05145,751,428 - 145,778,134 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05145,751,282 - 145,777,336 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05147,120,128 - 147,148,576 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5147,120,129 - 147,148,291 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05150,852,122 - 150,878,525 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45148,100,546 - 148,110,453 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5139,766,112 - 139,793,390 (-)NCBICelera
Cytogenetic Map5q36NCBI
Azin2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545211,303,499 - 11,330,555 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545211,304,345 - 11,330,370 (+)NCBIChiLan1.0ChiLan1.0
AZIN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21193,707,944 - 193,747,394 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11192,830,125 - 192,869,587 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0132,365,430 - 32,404,880 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1133,550,140 - 33,629,953 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl133,550,140 - 33,589,402 (+)Ensemblpanpan1.1panPan2
AZIN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1268,288,554 - 68,323,710 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl268,286,195 - 68,323,710 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha264,868,938 - 64,903,660 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0268,852,964 - 68,887,963 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl268,853,095 - 68,887,963 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1265,665,607 - 65,700,276 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0266,688,183 - 66,722,680 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0267,680,112 - 67,714,721 (-)NCBIUU_Cfam_GSD_1.0
Azin2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505850,116,873 - 50,148,699 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647415,941,620 - 15,973,745 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647415,941,655 - 15,973,481 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AZIN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl689,345,862 - 89,385,319 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1689,346,860 - 89,385,323 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2683,490,513 - 83,529,154 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AZIN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12099,757,861 - 99,804,671 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603316,893,178 - 16,935,047 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Azin2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476416,145,308 - 16,175,000 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476416,145,696 - 16,177,588 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AZIN2
37 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1 copy number loss See cases [RCV000053802] Chr1:30766758..33359428 [GRCh38]
Chr1:31239605..33825029 [GRCh37]
Chr1:31012192..33597616 [NCBI36]
Chr1:1p35.2-35.1		 pathogenic
NM_052998.3(AZIN2):c.327C>T (p.Ile109=) single nucleotide variant Malignant melanoma [RCV000064725] Chr1:33092097 [GRCh38]
Chr1:33557698 [GRCh37]
Chr1:33330285 [NCBI36]
Chr1:1p35.1		 not provided
NM_052998.3(AZIN2):c.862G>T (p.Ala288Ser) single nucleotide variant not provided [RCV000082331] Chr1:33096815 [GRCh38]
Chr1:33562416 [GRCh37]
Chr1:1p35.1		 not provided
GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1 copy number loss See cases [RCV000135447] Chr1:28424867..33122854 [GRCh38]
Chr1:28751378..33588455 [GRCh37]
Chr1:28623965..33361042 [NCBI36]
Chr1:1p35.3-35.1		 pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_018207.3(TRIM62):c.1105C>A (p.His369Asn) single nucleotide variant Inborn genetic diseases [RCV003239644] Chr1:33147500 [GRCh38]
Chr1:33613101 [GRCh37]
Chr1:1p35.1		 uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3 copy number gain not provided [RCV000748949] Chr1:31562164..37421958 [GRCh37]
Chr1:1p35.2-34.3		 pathogenic
GRCh37/hg19 1p35.1(chr1:33490308-33595212)x1 copy number loss not provided [RCV000748955] Chr1:33490308..33595212 [GRCh37]
Chr1:1p35.1		 benign
NM_018207.3(TRIM62):c.523C>A (p.Arg175=) single nucleotide variant not provided [RCV000917532] Chr1:33159926 [GRCh38]
Chr1:33625527 [GRCh37]
Chr1:1p35.1		 likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_018207.3(TRIM62):c.621G>A (p.Thr207=) single nucleotide variant not provided [RCV000923212] Chr1:33159828 [GRCh38]
Chr1:33625429 [GRCh37]
Chr1:1p35.1		 likely benign
NM_052998.4(AZIN2):c.762C>T (p.Ser254=) single nucleotide variant not provided [RCV000970415] Chr1:33096715 [GRCh38]
Chr1:33562316 [GRCh37]
Chr1:1p35.1		 benign
NM_052998.4(AZIN2):c.562C>A (p.His188Asn) single nucleotide variant not provided [RCV000949228] Chr1:33093391 [GRCh38]
Chr1:33558992 [GRCh37]
Chr1:1p35.1		 benign
NM_018207.3(TRIM62):c.1002C>T (p.Phe334=) single nucleotide variant not provided [RCV000901506] Chr1:33147603 [GRCh38]
Chr1:33613204 [GRCh37]
Chr1:1p35.1		 likely benign
NM_018207.3(TRIM62):c.633C>T (p.Ile211=) single nucleotide variant not provided [RCV000901507] Chr1:33159816 [GRCh38]
Chr1:33625417 [GRCh37]
Chr1:1p35.1		 likely benign
GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915) copy number loss not provided [RCV000767772] Chr1:32859415..36454915 [GRCh37]
Chr1:1p35.1-34.3		 pathogenic
NM_018207.3(TRIM62):c.702G>A (p.Glu234=) single nucleotide variant not provided [RCV000962924] Chr1:33159747 [GRCh38]
Chr1:33625348 [GRCh37]
Chr1:1p35.1		 benign
NM_052998.4(AZIN2):c.380A>T (p.His127Leu) single nucleotide variant Inborn genetic diseases [RCV003290676] Chr1:33092150 [GRCh38]
Chr1:33557751 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.442C>T (p.Pro148Ser) single nucleotide variant not provided [RCV000974834] Chr1:33092212 [GRCh38]
Chr1:33557813 [GRCh37]
Chr1:1p35.1		 benign
NM_018207.3(TRIM62):c.1417G>A (p.Val473Ile) single nucleotide variant not provided [RCV000955697] Chr1:33147188 [GRCh38]
Chr1:33612789 [GRCh37]
Chr1:1p35.1		 benign
GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3 copy number gain not provided [RCV001005079] Chr1:30819875..34380419 [GRCh37]
Chr1:1p35.2-35.1		 likely pathogenic
GRCh37/hg19 1p35.1(chr1:33490421-33599915)x1 copy number loss not provided [RCV001259561] Chr1:33490421..33599915 [GRCh37]
Chr1:1p35.1		 uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NM_052998.4(AZIN2):c.503G>A (p.Ser168Asn) single nucleotide variant Inborn genetic diseases [RCV003253763] Chr1:33093332 [GRCh38]
Chr1:33558933 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_018207.3(TRIM62):c.616C>T (p.Arg206Cys) single nucleotide variant Inborn genetic diseases [RCV003264650] Chr1:33159833 [GRCh38]
Chr1:33625434 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_018207.3(TRIM62):c.752T>C (p.Leu251Pro) single nucleotide variant Inborn genetic diseases [RCV002772665] Chr1:33159697 [GRCh38]
Chr1:33625298 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.702C>A (p.Asp234Glu) single nucleotide variant Inborn genetic diseases [RCV002793468] Chr1:33094662 [GRCh38]
Chr1:33560263 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.1234C>T (p.Arg412Trp) single nucleotide variant Inborn genetic diseases [RCV002783854] Chr1:33118106 [GRCh38]
Chr1:33583707 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_018207.3(TRIM62):c.575G>A (p.Arg192His) single nucleotide variant Inborn genetic diseases [RCV002758304] Chr1:33159874 [GRCh38]
Chr1:33625475 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.1192T>C (p.Phe398Leu) single nucleotide variant Inborn genetic diseases [RCV002919637] Chr1:33118064 [GRCh38]
Chr1:33583665 [GRCh37]
Chr1:1p35.1		 likely benign
NM_018207.3(TRIM62):c.1003G>A (p.Asp335Asn) single nucleotide variant Inborn genetic diseases [RCV002986956] Chr1:33147602 [GRCh38]
Chr1:33613203 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.650G>A (p.Arg217Gln) single nucleotide variant Inborn genetic diseases [RCV002699149] Chr1:33094610 [GRCh38]
Chr1:33560211 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.1181T>C (p.Met394Thr) single nucleotide variant Inborn genetic diseases [RCV002743845] Chr1:33118053 [GRCh38]
Chr1:33583654 [GRCh37]
Chr1:1p35.1		 likely benign
NM_018207.3(TRIM62):c.718G>A (p.Asp240Asn) single nucleotide variant Inborn genetic diseases [RCV002931549] Chr1:33159731 [GRCh38]
Chr1:33625332 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.91T>C (p.Ser31Pro) single nucleotide variant Inborn genetic diseases [RCV002645143] Chr1:33082340 [GRCh38]
Chr1:33547941 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.1018A>C (p.Ile340Leu) single nucleotide variant Inborn genetic diseases [RCV002896740] Chr1:33098168 [GRCh38]
Chr1:33563769 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.838T>A (p.Tyr280Asn) single nucleotide variant Inborn genetic diseases [RCV002832455] Chr1:33096791 [GRCh38]
Chr1:33562392 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_018207.3(TRIM62):c.467C>T (p.Ala156Val) single nucleotide variant Inborn genetic diseases [RCV002792389] Chr1:33165508 [GRCh38]
Chr1:33631109 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.941C>T (p.Thr314Ile) single nucleotide variant Inborn genetic diseases [RCV002677622] Chr1:33098091 [GRCh38]
Chr1:33563692 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.415G>A (p.Glu139Lys) single nucleotide variant Inborn genetic diseases [RCV002652481] Chr1:33092185 [GRCh38]
Chr1:33557786 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.215A>G (p.Asn72Ser) single nucleotide variant Inborn genetic diseases [RCV003217787] Chr1:33084063 [GRCh38]
Chr1:33549664 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.1087G>A (p.Gly363Ser) single nucleotide variant Inborn genetic diseases [RCV003309217] Chr1:33117959 [GRCh38]
Chr1:33583560 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_018207.3(TRIM62):c.1421G>A (p.Arg474His) single nucleotide variant Inborn genetic diseases [RCV003309592] Chr1:33147184 [GRCh38]
Chr1:33612785 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_018207.3(TRIM62):c.482A>G (p.Lys161Arg) single nucleotide variant Inborn genetic diseases [RCV003358828] Chr1:33165493 [GRCh38]
Chr1:33631094 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_052998.4(AZIN2):c.439C>T (p.His147Tyr) single nucleotide variant Inborn genetic diseases [RCV003364697] Chr1:33092209 [GRCh38]
Chr1:33557810 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_018207.3(TRIM62):c.902C>T (p.Pro301Leu) single nucleotide variant Inborn genetic diseases [RCV003356203] Chr1:33147703 [GRCh38]
Chr1:33613304 [GRCh37]
Chr1:1p35.1		 uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
GRCh37/hg19 1p35.1(chr1:33490421-33599915)x1 copy number loss not specified [RCV003986517] Chr1:33490421..33599915 [GRCh37]
Chr1:1p35.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5956
Count of miRNA genes:977
Interacting mature miRNAs:1217
Transcripts:ENST00000294517, ENST00000358680, ENST00000373440, ENST00000373441, ENST00000373443, ENST00000398167, ENST00000462920, ENST00000471119, ENST00000473089, ENST00000475935, ENST00000477570, ENST00000478204, ENST00000478635, ENST00000481886, ENST00000483027, ENST00000484656, ENST00000492420, ENST00000492521, ENST00000495135, ENST00000497280, ENST00000497710
Prediction methods:Microtar, 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
Medium 10 4 29 2 3 2 24 3 1126 2 451 14 1 2 14
Low 2363 2392 1496 420 923 262 3882 1776 2600 389 979 1561 170 1 1165 2425 2 1
Below cutoff 63 593 200 200 857 200 450 417 8 28 30 38 2 37 349 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001293562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_126031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB075825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL020995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW450278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX505071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY050634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY050635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY050636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY050637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY050638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY325129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX444560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB456925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB476211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R15361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000294517   ⟹   ENSP00000294517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,153 - 33,123,492 (+)Ensembl
RefSeq Acc Id: ENST00000373440   ⟹   ENSP00000362539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,082,250 - 33,098,230 (+)Ensembl
RefSeq Acc Id: ENST00000373441   ⟹   ENSP00000362540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,082,250 - 33,120,182 (+)Ensembl
RefSeq Acc Id: ENST00000373443   ⟹   ENSP00000362542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,167 - 33,120,529 (+)Ensembl
RefSeq Acc Id: ENST00000462920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,155 - 33,092,221 (+)Ensembl
RefSeq Acc Id: ENST00000471119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,155 - 33,120,530 (+)Ensembl
RefSeq Acc Id: ENST00000473089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,176 - 33,096,861 (+)Ensembl
RefSeq Acc Id: ENST00000475935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,150 - 33,120,526 (+)Ensembl
RefSeq Acc Id: ENST00000477570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,163 - 33,096,861 (+)Ensembl
RefSeq Acc Id: ENST00000478204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,082,906 - 33,120,521 (+)Ensembl
RefSeq Acc Id: ENST00000478635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,104 - 33,093,400 (+)Ensembl
RefSeq Acc Id: ENST00000481886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,148 - 33,120,529 (+)Ensembl
RefSeq Acc Id: ENST00000483027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,164 - 33,094,713 (+)Ensembl
RefSeq Acc Id: ENST00000484656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,659 - 33,120,530 (+)Ensembl
RefSeq Acc Id: ENST00000492420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,165 - 33,093,416 (+)Ensembl
RefSeq Acc Id: ENST00000492521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,094,644 - 33,096,956 (+)Ensembl
RefSeq Acc Id: ENST00000495135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,161 - 33,084,127 (+)Ensembl
RefSeq Acc Id: ENST00000497280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,093,242 - 33,094,713 (+)Ensembl
RefSeq Acc Id: ENST00000497710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,169 - 33,092,210 (+)Ensembl
RefSeq Acc Id: ENST00000652171   ⟹   ENSP00000498229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,081,363 - 33,120,259 (+)Ensembl
RefSeq Acc Id: ENST00000652381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl133,082,250 - 33,101,893 (+)Ensembl
RefSeq Acc Id: NM_001293562   ⟹   NP_001280491
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
CHM1_1133,662,239 - 33,701,641 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001301823   ⟹   NP_001288752
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
CHM1_1133,662,255 - 33,701,641 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001301824   ⟹   NP_001288753
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
CHM1_1133,662,255 - 33,701,641 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001301825   ⟹   NP_001288754
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,082,178 - 33,120,531 (+)NCBI
CHM1_1133,663,304 - 33,701,641 (+)NCBI
T2T-CHM13v2.0132,942,071 - 32,980,408 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001301826   ⟹   NP_001288755
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,082,178 - 33,101,892 (+)NCBI
CHM1_1133,663,304 - 33,683,003 (+)NCBI
T2T-CHM13v2.0132,942,071 - 32,961,768 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350398   ⟹   NP_001337327
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350399   ⟹   NP_001337328
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350400   ⟹   NP_001337329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350401   ⟹   NP_001337330
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350402   ⟹   NP_001337331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,082,178 - 33,120,531 (+)NCBI
T2T-CHM13v2.0132,942,071 - 32,980,408 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376722   ⟹   NP_001363651
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376724   ⟹   NP_001363653
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376725   ⟹   NP_001363654
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376727   ⟹   NP_001363656
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376729   ⟹   NP_001363658
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376730   ⟹   NP_001363659
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376732   ⟹   NP_001363661
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_052998   ⟹   NP_443724
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
GRCh37133,546,711 - 33,586,132 (+)NCBI
Build 36133,319,301 - 33,358,582 (+)NCBI Archive
HuRef131,662,672 - 31,701,953 (+)ENTREZGENE
CHM1_1133,662,239 - 33,701,641 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NR_126031
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,082,178 - 33,101,892 (+)NCBI
CHM1_1133,663,304 - 33,683,003 (+)NCBI
T2T-CHM13v2.0132,942,071 - 32,961,768 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146648
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146649
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540557   ⟹   XP_011538859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540563   ⟹   XP_011538865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,117,988 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540566   ⟹   XP_011538868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,117,988 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000174   ⟹   XP_016855663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,160,944 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000175   ⟹   XP_016855664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452818   ⟹   XP_024308586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,123,492 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443450   ⟹   XP_047299406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,118,096 (+)NCBI
RefSeq Acc Id: XM_047443457   ⟹   XP_047299413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,166,795 (+)NCBI
RefSeq Acc Id: XM_047443473   ⟹   XP_047299429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,117,988 (+)NCBI
RefSeq Acc Id: XM_047443474   ⟹   XP_047299430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38133,081,153 - 33,106,461 (+)NCBI
RefSeq Acc Id: XM_054334053   ⟹   XP_054190028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
RefSeq Acc Id: XM_054334054   ⟹   XP_054190029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0132,941,281 - 32,977,973 (+)NCBI
RefSeq Acc Id: XM_054334055   ⟹   XP_054190030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0132,941,046 - 33,025,345 (+)NCBI
RefSeq Acc Id: XM_054334056   ⟹   XP_054190031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
RefSeq Acc Id: XM_054334057   ⟹   XP_054190032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0132,941,046 - 32,983,369 (+)NCBI
RefSeq Acc Id: XM_054334058   ⟹   XP_054190033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0132,941,046 - 32,977,865 (+)NCBI
RefSeq Acc Id: XM_054334059   ⟹   XP_054190034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0132,941,281 - 32,966,337 (+)NCBI
RefSeq Acc Id: XM_054334060   ⟹   XP_054190035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0132,941,046 - 32,977,865 (+)NCBI
RefSeq Acc Id: XM_054334061   ⟹   XP_054190036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0132,941,281 - 33,020,819 (+)NCBI
RefSeq Acc Id: XM_054334062   ⟹   XP_054190037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0132,941,281 - 32,977,865 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001280491 (Get FASTA)   NCBI Sequence Viewer  
  NP_001288752 (Get FASTA)   NCBI Sequence Viewer  
  NP_001288753 (Get FASTA)   NCBI Sequence Viewer  
  NP_001288754 (Get FASTA)   NCBI Sequence Viewer  
  NP_001288755 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337327 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337328 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337329 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337330 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337331 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363651 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363653 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363654 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363656 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363658 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363659 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363661 (Get FASTA)   NCBI Sequence Viewer  
  NP_443724 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538859 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538865 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538868 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855663 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855664 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308586 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299406 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299413 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299429 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299430 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190028 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190029 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190030 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190031 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190032 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190033 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190034 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190035 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190036 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190037 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH10449 (Get FASTA)   NCBI Sequence Viewer  
  AAH28128 (Get FASTA)   NCBI Sequence Viewer  
  AAL08049 (Get FASTA)   NCBI Sequence Viewer  
  AAL08050 (Get FASTA)   NCBI Sequence Viewer  
  AAL08051 (Get FASTA)   NCBI Sequence Viewer  
  AAL08052 (Get FASTA)   NCBI Sequence Viewer  
  AAL08053 (Get FASTA)   NCBI Sequence Viewer  
  AAQ62560 (Get FASTA)   NCBI Sequence Viewer  
  BAB71356 (Get FASTA)   NCBI Sequence Viewer  
  BAB85531 (Get FASTA)   NCBI Sequence Viewer  
  BAC04489 (Get FASTA)   NCBI Sequence Viewer  
  BAG38042 (Get FASTA)   NCBI Sequence Viewer  
  BAG53674 (Get FASTA)   NCBI Sequence Viewer  
  CAD48798 (Get FASTA)   NCBI Sequence Viewer  
  EAX07469 (Get FASTA)   NCBI Sequence Viewer  
  EAX07470 (Get FASTA)   NCBI Sequence Viewer  
  EAX07471 (Get FASTA)   NCBI Sequence Viewer  
  EAX07472 (Get FASTA)   NCBI Sequence Viewer  
  EAX07473 (Get FASTA)   NCBI Sequence Viewer  
  EAX07474 (Get FASTA)   NCBI Sequence Viewer  
  EAX07475 (Get FASTA)   NCBI Sequence Viewer  
  EAX07476 (Get FASTA)   NCBI Sequence Viewer  
  EAX07477 (Get FASTA)   NCBI Sequence Viewer  
  EAX07478 (Get FASTA)   NCBI Sequence Viewer  
  EAX07479 (Get FASTA)   NCBI Sequence Viewer  
  EAX07480 (Get FASTA)   NCBI Sequence Viewer  
  EAX07481 (Get FASTA)   NCBI Sequence Viewer  
  EAX07482 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000294517
  ENSP00000294517.6
  ENSP00000362540
  ENSP00000362540.1
  ENSP00000362542
  ENSP00000362542.3
  ENSP00000498229.1
GenBank Protein Q96A70 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_443724   ⟸   NM_052998
- Peptide Label: isoform 1
- UniProtKB: Q96L57 (UniProtKB/Swiss-Prot),   Q96L56 (UniProtKB/Swiss-Prot),   Q96L55 (UniProtKB/Swiss-Prot),   Q96L54 (UniProtKB/Swiss-Prot),   Q8TF56 (UniProtKB/Swiss-Prot),   Q5TIF6 (UniProtKB/Swiss-Prot),   Q5TIF5 (UniProtKB/Swiss-Prot),   Q5TIF4 (UniProtKB/Swiss-Prot),   D3DPQ9 (UniProtKB/Swiss-Prot),   B2RDU5 (UniProtKB/Swiss-Prot),   Q96MD9 (UniProtKB/Swiss-Prot),   Q96A70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001280491   ⟸   NM_001293562
- Peptide Label: isoform 1
- UniProtKB: Q96L57 (UniProtKB/Swiss-Prot),   Q96L56 (UniProtKB/Swiss-Prot),   Q96L55 (UniProtKB/Swiss-Prot),   Q96L54 (UniProtKB/Swiss-Prot),   Q8TF56 (UniProtKB/Swiss-Prot),   Q5TIF6 (UniProtKB/Swiss-Prot),   Q5TIF5 (UniProtKB/Swiss-Prot),   Q5TIF4 (UniProtKB/Swiss-Prot),   D3DPQ9 (UniProtKB/Swiss-Prot),   B2RDU5 (UniProtKB/Swiss-Prot),   Q96MD9 (UniProtKB/Swiss-Prot),   Q96A70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288752   ⟸   NM_001301823
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001288753   ⟸   NM_001301824
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001288754   ⟸   NM_001301825
- Peptide Label: isoform 3
- UniProtKB: Q96A70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288755   ⟸   NM_001301826
- Peptide Label: isoform 4
- UniProtKB: Q96A70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538868   ⟸   XM_011540566
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011538865   ⟸   XM_011540563
- Peptide Label: isoform X5
- UniProtKB: Q96A70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538859   ⟸   XM_011540557
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016855664   ⟸   XM_017000175
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016855663   ⟸   XM_017000174
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001337327   ⟸   NM_001350398
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001337329   ⟸   NM_001350400
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001337330   ⟸   NM_001350401
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001337328   ⟸   NM_001350399
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: XP_024308586   ⟸   XM_024452818
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001337331   ⟸   NM_001350402
- Peptide Label: isoform 5
- UniProtKB: B3KV62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001363653   ⟸   NM_001376724
- Peptide Label: isoform 1
- UniProtKB: Q96L57 (UniProtKB/Swiss-Prot),   Q96L56 (UniProtKB/Swiss-Prot),   Q96L55 (UniProtKB/Swiss-Prot),   Q96L54 (UniProtKB/Swiss-Prot),   Q96A70 (UniProtKB/Swiss-Prot),   Q8TF56 (UniProtKB/Swiss-Prot),   Q5TIF6 (UniProtKB/Swiss-Prot),   Q5TIF5 (UniProtKB/Swiss-Prot),   Q5TIF4 (UniProtKB/Swiss-Prot),   D3DPQ9 (UniProtKB/Swiss-Prot),   B2RDU5 (UniProtKB/Swiss-Prot),   Q96MD9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001363651   ⟸   NM_001376722
- Peptide Label: isoform 1
- UniProtKB: Q96L57 (UniProtKB/Swiss-Prot),   Q96L56 (UniProtKB/Swiss-Prot),   Q96L55 (UniProtKB/Swiss-Prot),   Q96L54 (UniProtKB/Swiss-Prot),   Q96A70 (UniProtKB/Swiss-Prot),   Q8TF56 (UniProtKB/Swiss-Prot),   Q5TIF6 (UniProtKB/Swiss-Prot),   Q5TIF5 (UniProtKB/Swiss-Prot),   Q5TIF4 (UniProtKB/Swiss-Prot),   D3DPQ9 (UniProtKB/Swiss-Prot),   B2RDU5 (UniProtKB/Swiss-Prot),   Q96MD9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001363654   ⟸   NM_001376725
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001363658   ⟸   NM_001376729
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001363661   ⟸   NM_001376732
- Peptide Label: isoform 5
- UniProtKB: B3KV62 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363659   ⟸   NM_001376730
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001363656   ⟸   NM_001376727
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000294517   ⟸   ENST00000294517
RefSeq Acc Id: ENSP00000362539   ⟸   ENST00000373440
RefSeq Acc Id: ENSP00000362540   ⟸   ENST00000373441
RefSeq Acc Id: ENSP00000362542   ⟸   ENST00000373443
RefSeq Acc Id: ENSP00000498229   ⟸   ENST00000652171
RefSeq Acc Id: XP_047299413   ⟸   XM_047443457
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047299406   ⟸   XM_047443450
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047299429   ⟸   XM_047443473
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047299430   ⟸   XM_047443474
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054190030   ⟸   XM_054334055
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054190028   ⟸   XM_054334053
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190032   ⟸   XM_054334057
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054190031   ⟸   XM_054334056
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054190035   ⟸   XM_054334060
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054190033   ⟸   XM_054334058
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054190036   ⟸   XM_054334061
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054190029   ⟸   XM_054334054
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054190037   ⟸   XM_054334062
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054190034   ⟸   XM_054334059
- Peptide Label: isoform X5
Protein Domains
Orn/DAP/Arg decarboxylase 2 C-terminal   Orn/DAP/Arg decarboxylase 2 N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96A70-F1-model_v2 AlphaFold Q96A70 1-460 view protein structure

Promoters
RGD ID:6854888
Promoter ID:EPDNEW_H609
Type:initiation region
Name:AZIN2_1
Description:antizyme inhibitor 2
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
GRCh38133,081,155 - 33,081,215EPDNEW
RGD ID:6785909
Promoter ID:HG_KWN:1880
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000341637,   ENST00000358680,   ENST00000398167,   NM_052998,   OTTHUMT00000011869,   OTTHUMT00000011870,   OTTHUMT00000011873,   OTTHUMT00000011874,   OTTHUMT00000011875,   OTTHUMT00000011876,   OTTHUMT00000011877,   OTTHUMT00000011878,   OTTHUMT00000011879,   OTTHUMT00000011880,   OTTHUMT00000092186,   UC001BWS.1,   UC001BWT.1,   UC001BWV.1,   UC001BWW.1,   UC001BWY.1,   UC001BWZ.1,   UC009VUE.1,   UC009VUF.1,   UC009VUG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36133,319,081 - 33,319,581 (+)MPROMDB
RGD ID:6784562
Promoter ID:HG_KWN:1882
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:OTTHUMT00000011882
Position:
Human AssemblyChrPosition (strand)Source
Build 36133,333,071 - 33,333,571 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29957 AgrOrtholog
COSMIC AZIN2 COSMIC
Ensembl Genes ENSG00000142920 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000294517 ENTREZGENE
  ENST00000294517.11 UniProtKB/Swiss-Prot
  ENST00000373441 ENTREZGENE
  ENST00000373441.1 UniProtKB/Swiss-Prot
  ENST00000373443 ENTREZGENE
  ENST00000373443.7 UniProtKB/Swiss-Prot
  ENST00000652171.1 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000142920 GTEx
HGNC ID HGNC:29957 ENTREZGENE
Human Proteome Map AZIN2 Human Proteome Map
InterPro Ala_racemase/Decarboxylase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  De-COase2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  De-COase2_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  De-COase2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  De-COase2_pyr-phos_BS UniProtKB/Swiss-Prot
  Orn/DAP/Arg_de-COase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Orn_de-COase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLP-binding_barrel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:113451 UniProtKB/Swiss-Prot
NCBI Gene 113451 ENTREZGENE
OMIM 608353 OMIM
PANTHER PTHR11482 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11482:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Orn_Arg_deC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Orn_DAP_Arg_deC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672642 PharmGKB
PRINTS ODADCRBXLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORNDCRBXLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ODR_DC_2_1 UniProtKB/Swiss-Prot
  ODR_DC_2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50621 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51419 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494BZU1_HUMAN UniProtKB/TrEMBL
  AZIN2_HUMAN UniProtKB/Swiss-Prot
  B2RDU5 ENTREZGENE
  B3KV62 ENTREZGENE, UniProtKB/TrEMBL
  D3DPQ9 ENTREZGENE
  Q5TIF4 ENTREZGENE
  Q5TIF5 ENTREZGENE
  Q5TIF6 ENTREZGENE
  Q8TF56 ENTREZGENE
  Q96A70 ENTREZGENE
  Q96L54 ENTREZGENE
  Q96L55 ENTREZGENE
  Q96L56 ENTREZGENE
  Q96L57 ENTREZGENE
  Q96MD9 ENTREZGENE
UniProt Secondary B2RDU5 UniProtKB/Swiss-Prot
  D3DPQ9 UniProtKB/Swiss-Prot
  Q5TIF4 UniProtKB/Swiss-Prot
  Q5TIF5 UniProtKB/Swiss-Prot
  Q5TIF6 UniProtKB/Swiss-Prot
  Q8TF56 UniProtKB/Swiss-Prot
  Q96L54 UniProtKB/Swiss-Prot
  Q96L55 UniProtKB/Swiss-Prot
  Q96L56 UniProtKB/Swiss-Prot
  Q96L57 UniProtKB/Swiss-Prot
  Q96MD9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-06-17 AZIN2  antizyme inhibitor 2  ADC  arginine decarboxylase  Symbol and/or name change 5135510 APPROVED