MBNL2 (muscleblind like splicing regulator 2) - Rat Genome Database

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Gene: MBNL2 (muscleblind like splicing regulator 2) Homo sapiens
Analyze
Symbol: MBNL2
Name: muscleblind like splicing regulator 2
RGD ID: 1315628
HGNC Page HGNC:16746
Description: Enables sequence-specific double-stranded DNA binding activity. Involved in regulation of RNA splicing. Located in nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp781H1296; MBLL; MBLL39; MGC120625; MGC120626; MGC120628; muscleblind-like 2; muscleblind-like protein 1; muscleblind-like protein 2; muscleblind-like protein-like 39; muscleblind-like splicing regulator 2; PRO2032; RP11-128N14.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   BW213_H   BW340_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381397,141,834 - 97,394,120 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1397,221,434 - 97,394,120 (+)EnsemblGRCh38hg38GRCh38
GRCh371397,794,088 - 98,046,374 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361396,672,575 - 96,844,375 (+)NCBINCBI36Build 36hg18NCBI36
Celera1378,721,989 - 78,893,793 (+)NCBICelera
Cytogenetic Map13q32.1NCBI
HuRef1378,471,234 - 78,643,205 (+)NCBIHuRef
CHM1_11397,844,925 - 98,016,876 (+)NCBICHM1_1
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-methylcholine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
captan  (ISO)
CGP 52608  (EXP)
ciguatoxin CTX1B  (ISO)
clorgyline  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
fulvestrant  (EXP)
geldanamycin  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
ivermectin  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
Mesaconitine  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
methimazole  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
miconazole  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
nickel dichloride  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
raloxifene  (EXP)
rimonabant  (ISO)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sirolimus  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
torcetrapib  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
nucleoplasm  (IBA,IDA)
nucleus  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11929853   PMID:11991713   PMID:12477932   PMID:15057823   PMID:15257297   PMID:15489334   PMID:16273094   PMID:16946708   PMID:19095965   PMID:19177353   PMID:19322201   PMID:20379614  
PMID:21529783   PMID:21873635   PMID:22658674   PMID:22681889   PMID:22884328   PMID:23251661   PMID:23739326   PMID:24440524   PMID:24457600   PMID:26186194   PMID:26339785   PMID:27564110  
PMID:28473536   PMID:28514442   PMID:28611215   PMID:29395067   PMID:29946070   PMID:32127384   PMID:32296183   PMID:32652860   PMID:33466733   PMID:33961781   PMID:34133714   PMID:35013218  
PMID:35256949   PMID:35509820   PMID:35563538   PMID:35831314   PMID:35906200   PMID:36232890   PMID:36373674   PMID:37689310  


Genomics

Comparative Map Data
MBNL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381397,141,834 - 97,394,120 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1397,221,434 - 97,394,120 (+)EnsemblGRCh38hg38GRCh38
GRCh371397,794,088 - 98,046,374 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361396,672,575 - 96,844,375 (+)NCBINCBI36Build 36hg18NCBI36
Celera1378,721,989 - 78,893,793 (+)NCBICelera
Cytogenetic Map13q32.1NCBI
HuRef1378,471,234 - 78,643,205 (+)NCBIHuRef
CHM1_11397,844,925 - 98,016,876 (+)NCBICHM1_1
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBIT2T-CHM13v2.0
Mbnl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914120,513,077 - 120,669,110 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl14120,513,081 - 120,669,109 (+)EnsemblGRCm39 Ensembl
GRCm3814120,275,652 - 120,431,698 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14120,275,669 - 120,431,697 (+)EnsemblGRCm38mm10GRCm38
MGSCv3714120,674,891 - 120,830,920 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3614119,410,851 - 119,566,877 (+)NCBIMGSCv36mm8
Celera14118,828,759 - 118,986,361 (+)NCBICelera
Cytogenetic Map14E4NCBI
cM Map1464.44NCBI
Mbnl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr815103,792,134 - 103,949,827 (+)NCBIGRCr8
mRatBN7.21597,385,278 - 97,542,924 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1597,385,244 - 97,542,937 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx15101,311,923 - 101,471,980 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.015102,414,054 - 102,574,110 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01599,354,320 - 99,514,468 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.015105,640,097 - 105,797,933 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl15105,640,097 - 105,797,932 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.015109,043,305 - 109,200,834 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.415105,356,456 - 105,514,135 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1596,204,034 - 96,361,422 (+)NCBICelera
Cytogenetic Map15q24NCBI
Mbnl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540412,979,235 - 13,132,361 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540412,979,671 - 13,132,239 (-)NCBIChiLan1.0ChiLan1.0
MBNL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21498,657,810 - 98,912,156 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11397,326,508 - 97,580,896 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01378,301,339 - 78,555,615 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11397,538,615 - 97,711,843 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1397,591,686 - 97,711,843 (+)Ensemblpanpan1.1panPan2
MBNL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12247,568,335 - 47,729,901 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2247,619,002 - 47,727,550 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2247,348,675 - 47,510,527 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02247,994,403 - 48,156,428 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2247,994,663 - 48,156,428 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12247,657,892 - 47,819,727 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02247,691,268 - 47,853,427 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02247,727,618 - 47,889,505 (+)NCBIUU_Cfam_GSD_1.0
Mbnl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945183,095,913 - 183,246,351 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647212,705,804 - 12,856,048 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647212,705,804 - 12,856,058 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MBNL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1166,481,923 - 66,641,653 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11166,481,923 - 66,641,653 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21173,458,684 - 73,590,555 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MBNL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1375,936,438 - 76,108,163 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl375,987,751 - 76,109,519 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604632,387,044 - 32,558,863 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mbnl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248793,768,084 - 3,922,407 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248793,768,073 - 3,921,251 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MBNL2
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.2-32.1(chr13:88260962-97285754)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|See cases [RCV000051415] Chr13:88260962..97285754 [GRCh38]
Chr13:88913217..97938008 [GRCh37]
Chr13:87711218..96736009 [NCBI36]
Chr13:13q31.2-32.1		 pathogenic
GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1 copy number loss See cases [RCV000051416] Chr13:88323009..98888644 [GRCh38]
Chr13:88975264..99540898 [GRCh37]
Chr13:87773265..98338899 [NCBI36]
Chr13:13q31.2-32.3		 pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34		 pathogenic
GRCh38/hg38 13q31.3-32.1(chr13:93571649-97428965)x1 copy number loss See cases [RCV000051419] Chr13:93571649..97428965 [GRCh38]
Chr13:94223902..98081219 [GRCh37]
Chr13:93021903..96879220 [NCBI36]
Chr13:13q31.3-32.1		 pathogenic
GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3 copy number gain See cases [RCV000051179] Chr13:82032938..106082542 [GRCh38]
Chr13:82607073..106734891 [GRCh37]
Chr13:81505074..105532892 [NCBI36]
Chr13:13q31.1-33.2		 pathogenic
GRCh38/hg38 13q32.1(chr13:95781492-97429106)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052028]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052028]|See cases [RCV000052028] Chr13:95781492..97429106 [GRCh38]
Chr13:96433746..98081360 [GRCh37]
Chr13:95231747..96879361 [NCBI36]
Chr13:13q32.1		 uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q31.3-33.1(chr13:93213623-101537104)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|See cases [RCV000053790] Chr13:93213623..101537104 [GRCh38]
Chr13:93865876..102189455 [GRCh37]
Chr13:92663877..100987456 [NCBI36]
Chr13:13q31.3-33.1		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34		 pathogenic
GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1 copy number loss See cases [RCV000136688] Chr13:93345058..109458154 [GRCh38]
Chr13:93997311..110110501 [GRCh37]
Chr13:92795312..108908502 [NCBI36]
Chr13:13q31.3-33.3		 pathogenic
GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1 copy number loss See cases [RCV000138024] Chr13:97213871..109162916 [GRCh38]
Chr13:97866125..109815264 [GRCh37]
Chr13:96664126..108613265 [NCBI36]
Chr13:13q32.1-33.3		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3 copy number gain See cases [RCV000139021] Chr13:95744855..110863818 [GRCh38]
Chr13:96397109..111516165 [GRCh37]
Chr13:95195110..110314166 [NCBI36]
Chr13:13q32.1-34		 pathogenic
GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1 copy number loss See cases [RCV000139047] Chr13:87944479..99866542 [GRCh38]
Chr13:88596734..100518796 [GRCh37]
Chr13:87394735..99316797 [NCBI36]
Chr13:13q31.2-32.3		 pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
NC_000013.11:g.97160222C>A single nucleotide variant Lung cancer [RCV000098501] Chr13:97160222 [GRCh38]
Chr13:97812476 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q32.1-32.3(chr13:95677119-100521192)x1 copy number loss See cases [RCV000447261] Chr13:95677119..100521192 [GRCh37]
Chr13:13q32.1-32.3		 uncertain significance
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1 copy number loss See cases [RCV000448988] Chr13:81851091..102864674 [GRCh37]
Chr13:13q31.1-33.1		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1 copy number loss See cases [RCV000510890] Chr13:80572498..108719528 [GRCh37]
Chr13:13q31.1-33.3		 pathogenic
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 copy number loss See cases [RCV000512257] Chr13:96586481..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1 copy number loss not provided [RCV000683570] Chr13:94703767..109731879 [GRCh37]
Chr13:13q31.3-33.3		 pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1 copy number loss not provided [RCV001006591] Chr13:96895656..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1 copy number loss not provided [RCV002473593] Chr13:93535335..105788229 [GRCh37]
Chr13:13q31.3-33.2		 pathogenic
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34		 pathogenic
GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1 copy number loss not provided [RCV001006589] Chr13:96240346..106103782 [GRCh37]
Chr13:13q32.1-33.2		 pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
Single allele deletion Distal monosomy 13q [RCV001391677] Chr13:94679977..111536145 [GRCh37]
Chr13:13q31.3-34		 pathogenic
NC_000013.10:g.(?_92002837)_(103343314_?)del deletion Holoprosencephaly 5 [RCV001388033] Chr13:92002837..103343314 [GRCh37]
Chr13:13q31.3-33.1		 pathogenic
NM_001382683.1(MBNL2):c.632G>A (p.Ser211Asn) single nucleotide variant not specified [RCV004310569] Chr13:97346895 [GRCh38]
Chr13:97999149 [GRCh37]
Chr13:13q32.1		 likely benign
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13q32.1-32.3(chr13:95677119-100521192) copy number loss not specified [RCV002053076] Chr13:95677119..100521192 [GRCh37]
Chr13:13q32.1-32.3		 uncertain significance
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) copy number loss not specified [RCV002053074] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) copy number gain not specified [RCV002053073] Chr13:85037147..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) copy number loss not specified [RCV002053072] Chr13:79370012..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3 copy number gain See cases [RCV002286354] Chr13:89490345..115062235 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001382683.1(MBNL2):c.790G>T (p.Ala264Ser) single nucleotide variant not specified [RCV004317015] Chr13:97347053 [GRCh38]
Chr13:97999307 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1 copy number loss not provided [RCV002474828] Chr13:97142120..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
NM_001382683.1(MBNL2):c.167C>T (p.Ser56Phe) single nucleotide variant not specified [RCV004178480] Chr13:97276402 [GRCh38]
Chr13:97928656 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001382683.1(MBNL2):c.119C>G (p.Pro40Arg) single nucleotide variant not specified [RCV004149015] Chr13:97276354 [GRCh38]
Chr13:97928608 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001382683.1(MBNL2):c.259T>G (p.Leu87Val) single nucleotide variant not specified [RCV004140996] Chr13:97334360 [GRCh38]
Chr13:97986614 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001382683.1(MBNL2):c.926G>A (p.Ser309Asn) single nucleotide variant not specified [RCV004218188] Chr13:97357549 [GRCh38]
Chr13:98009803 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001382683.1(MBNL2):c.521T>C (p.Leu174Pro) single nucleotide variant not specified [RCV004276449] Chr13:97343197 [GRCh38]
Chr13:97995451 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3 copy number gain See cases [RCV003159553] Chr13:95700999..105271065 [GRCh37]
Chr13:13q32.1-33.2		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1 copy number loss not provided [RCV003483192] Chr13:82131211..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1 copy number loss not provided [RCV003483190] Chr13:73132193..104595598 [GRCh37]
Chr13:13q21.33-33.1		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1 copy number loss not provided [RCV003483195] Chr13:89012420..106371634 [GRCh37]
Chr13:13q31.2-33.2		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1 copy number loss not specified [RCV003987038] Chr13:84669397..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3 copy number gain not specified [RCV003987023] Chr13:82876219..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 copy number loss not specified [RCV003987008] Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2		 pathogenic
GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1 copy number loss not specified [RCV003987009] Chr13:64825656..103641349 [GRCh37]
Chr13:13q21.31-33.1		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR218-2hsa-miR-218-5pMirtarbaseexternal_infoqRT-PCR//Western blotNon-Functional MTI17998940

Predicted Target Of
Summary Value
Count of predictions:4890
Count of miRNA genes:685
Interacting mature miRNAs:837
Transcripts:ENST00000343600, ENST00000345429, ENST00000376673, ENST00000397601, ENST00000445661, ENST00000449284, ENST00000469707
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.

Markers in Region
D13S892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,951,843 - 97,952,037UniSTSGRCh37
Build 361396,749,844 - 96,750,038RGDNCBI36
Celera1378,799,254 - 78,799,460RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,548,587 - 78,548,789UniSTS
Marshfield Genetic Map1376.26UniSTS
Marshfield Genetic Map1376.26RGD
SGC38389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371398,046,063 - 98,046,347UniSTSGRCh37
Build 361396,844,064 - 96,844,348RGDNCBI36
Celera1378,893,482 - 78,893,766RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,642,894 - 78,643,178UniSTS
GeneMap99-GB4 RH Map13275.46UniSTS
Whitehead-RH Map13261.8UniSTS
G42350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,876,478 - 97,876,639UniSTSGRCh37
Build 361396,674,479 - 96,674,640RGDNCBI36
Celera1378,723,893 - 78,724,054RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,473,162 - 78,473,323UniSTS
D13S863E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,932,808 - 97,932,931UniSTSGRCh37
Build 361396,730,809 - 96,730,932RGDNCBI36
Celera1378,780,216 - 78,780,339RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,529,473 - 78,529,596UniSTS
SHGC-142290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,965,764 - 97,966,087UniSTSGRCh37
Build 361396,763,765 - 96,764,088RGDNCBI36
Celera1378,813,186 - 78,813,509RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,562,520 - 78,562,843UniSTS
SHGC-145835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371398,038,303 - 98,038,646UniSTSGRCh37
Build 361396,836,304 - 96,836,647RGDNCBI36
Celera1378,885,720 - 78,886,063RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,635,130 - 78,635,473UniSTS
G20272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371398,006,008 - 98,006,172UniSTSGRCh37
Build 361396,804,009 - 96,804,173RGDNCBI36
Celera1378,853,429 - 78,853,593RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,602,840 - 78,603,004UniSTS
A005C24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371398,006,008 - 98,006,172UniSTSGRCh37
Build 361396,804,009 - 96,804,173RGDNCBI36
Celera1378,853,429 - 78,853,593RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,602,840 - 78,603,004UniSTS
GeneMap99-GB4 RH Map13275.03UniSTS
G65670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,875,206 - 97,875,388UniSTSGRCh37
Build 361396,673,207 - 96,673,389RGDNCBI36
Celera1378,722,621 - 78,722,803RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,471,890 - 78,472,072UniSTS
SGC34959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,979,680 - 97,979,779UniSTSGRCh37
Build 361396,777,681 - 96,777,780RGDNCBI36
Celera1378,827,102 - 78,827,201RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,576,436 - 78,576,535UniSTS
GeneMap99-GB4 RH Map13273.71UniSTS
Whitehead-RH Map13260.1UniSTS
D13S322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,951,842 - 97,951,981UniSTSGRCh37
Build 361396,749,843 - 96,749,982RGDNCBI36
Celera1378,799,253 - 78,799,404RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,548,586 - 78,548,733UniSTS
Stanford-G3 RH Map132780.0UniSTS
Whitehead-YAC Contig Map13 UniSTS
NCBI RH Map13898.0UniSTS
D13S1766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,925,205 - 97,925,439UniSTSGRCh37
Build 361396,723,206 - 96,723,440RGDNCBI36
Celera1378,772,614 - 78,772,848RGD
HuRef1378,521,871 - 78,522,105UniSTS
D13S1179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371398,023,049 - 98,023,229UniSTSGRCh37
Build 361396,821,050 - 96,821,230RGDNCBI36
Celera1378,870,470 - 78,870,650RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,619,880 - 78,620,060UniSTS
WI-17498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371398,011,358 - 98,011,507UniSTSGRCh37
Build 361396,809,359 - 96,809,508RGDNCBI36
Celera1378,858,779 - 78,858,928RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,608,190 - 78,608,339UniSTS
GeneMap99-GB4 RH Map13273.4UniSTS
Whitehead-RH Map13261.5UniSTS
RH44531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371398,006,059 - 98,006,220UniSTSGRCh37
Build 361396,804,060 - 96,804,221RGDNCBI36
Celera1378,853,480 - 78,853,641RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,602,891 - 78,603,052UniSTS
GeneMap99-GB4 RH Map13275.14UniSTS
STS-H64804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,979,558 - 97,979,774UniSTSGRCh37
Build 361396,777,559 - 96,777,775RGDNCBI36
Celera1378,826,980 - 78,827,196RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,576,314 - 78,576,530UniSTS
GeneMap99-GB4 RH Map13273.71UniSTS


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 2353 2085 1701 602 1053 444 4128 2042 3617 378 1381 1587 174 1 1203 2765 6 2
Low 86 863 25 22 849 21 227 154 117 41 78 25 1 1 23
Below cutoff 43 49 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001306070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF061261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF116683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF339782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF339832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF491866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL442067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV733599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY101770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE246602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA429672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW415513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000343600   ⟹   ENSP00000344214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1397,222,324 - 97,394,119 (+)Ensembl
RefSeq Acc Id: ENST00000345429   ⟹   ENSP00000267287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1397,222,355 - 97,394,120 (+)Ensembl
RefSeq Acc Id: ENST00000376673   ⟹   ENSP00000365861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1397,222,324 - 97,394,119 (+)Ensembl
RefSeq Acc Id: ENST00000397601   ⟹   ENSP00000380726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1397,221,434 - 97,394,120 (+)Ensembl
RefSeq Acc Id: ENST00000449284   ⟹   ENSP00000404202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1397,356,796 - 97,391,599 (+)Ensembl
RefSeq Acc Id: ENST00000469707   ⟹   ENSP00000432422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1397,222,355 - 97,392,008 (+)Ensembl
RefSeq Acc Id: ENST00000679496   ⟹   ENSP00000505596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1397,222,333 - 97,394,120 (+)Ensembl
RefSeq Acc Id: ENST00000685165   ⟹   ENSP00000510541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1397,222,333 - 97,343,219 (+)Ensembl
RefSeq Acc Id: ENST00000692685   ⟹   ENSP00000508849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1397,276,204 - 97,357,635 (+)Ensembl
RefSeq Acc Id: ENST00000704364   ⟹   ENSP00000515872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1397,222,006 - 97,394,116 (+)Ensembl
RefSeq Acc Id: ENST00000704373   ⟹   ENSP00000515878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1397,222,006 - 97,394,109 (+)Ensembl
RefSeq Acc Id: NM_001306070   ⟹   NP_001292999
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
CHM1_11397,844,918 - 98,016,876 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382649   ⟹   NP_001369578
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382650   ⟹   NP_001369579
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382651   ⟹   NP_001369580
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382652   ⟹   NP_001369581
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382653   ⟹   NP_001369582
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382654   ⟹   NP_001369583
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382656   ⟹   NP_001369585
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382660   ⟹   NP_001369589
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382661   ⟹   NP_001369590
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382663   ⟹   NP_001369592
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382666   ⟹   NP_001369595
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382667   ⟹   NP_001369596
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382668   ⟹   NP_001369597
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382669   ⟹   NP_001369598
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382670   ⟹   NP_001369599
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382671   ⟹   NP_001369600
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382672   ⟹   NP_001369601
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382673   ⟹   NP_001369602
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382674   ⟹   NP_001369603
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382675   ⟹   NP_001369604
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382676   ⟹   NP_001369605
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382677   ⟹   NP_001369606
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382678   ⟹   NP_001369607
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382679   ⟹   NP_001369608
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382680   ⟹   NP_001369609
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382681   ⟹   NP_001369610
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382682   ⟹   NP_001369611
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382683   ⟹   NP_001369612
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382684   ⟹   NP_001369613
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382685   ⟹   NP_001369614
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382686   ⟹   NP_001369615
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382687   ⟹   NP_001369616
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382688   ⟹   NP_001369617
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382689   ⟹   NP_001369618
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382690   ⟹   NP_001369619
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382691   ⟹   NP_001369620
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382692   ⟹   NP_001369621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382693   ⟹   NP_001369622
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382694   ⟹   NP_001369623
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382695   ⟹   NP_001369624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382696   ⟹   NP_001369625
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382697   ⟹   NP_001369626
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_144778   ⟹   NP_659002
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
GRCh371397,874,549 - 98,046,374 (+)NCBI
Build 361396,672,575 - 96,844,375 (+)NCBI Archive
Celera1378,721,989 - 78,893,793 (+)RGD
HuRef1378,471,234 - 78,643,205 (+)NCBI
CHM1_11397,844,925 - 98,016,876 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_207304   ⟹   NP_997187
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,394,120 (+)NCBI
GRCh371397,874,549 - 98,046,374 (+)NCBI
Build 361396,672,575 - 96,844,375 (+)NCBI Archive
Celera1378,721,989 - 78,893,793 (+)RGD
HuRef1378,471,234 - 78,643,205 (+)NCBI
CHM1_11397,844,925 - 98,016,876 (+)NCBI
T2T-CHM13v2.01396,426,371 - 96,600,426 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430002   ⟹   XP_047285958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
RefSeq Acc Id: XM_047430003   ⟹   XP_047285959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
RefSeq Acc Id: XM_047430004   ⟹   XP_047285960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
RefSeq Acc Id: XM_047430005   ⟹   XP_047285961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
RefSeq Acc Id: XM_047430006   ⟹   XP_047285962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
RefSeq Acc Id: XM_047430007   ⟹   XP_047285963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
RefSeq Acc Id: XM_047430008   ⟹   XP_047285964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
RefSeq Acc Id: XM_047430009   ⟹   XP_047285965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
RefSeq Acc Id: XM_047430010   ⟹   XP_047285966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
RefSeq Acc Id: XM_047430011   ⟹   XP_047285967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,394,120 (+)NCBI
RefSeq Acc Id: XM_054373977   ⟹   XP_054229952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
RefSeq Acc Id: XM_054373978   ⟹   XP_054229953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
RefSeq Acc Id: XM_054373979   ⟹   XP_054229954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
RefSeq Acc Id: XM_054373980   ⟹   XP_054229955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
RefSeq Acc Id: XM_054373981   ⟹   XP_054229956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
RefSeq Acc Id: XM_054373982   ⟹   XP_054229957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
RefSeq Acc Id: XM_054373983   ⟹   XP_054229958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
RefSeq Acc Id: XM_054373984   ⟹   XP_054229959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
RefSeq Acc Id: XM_054373985   ⟹   XP_054229960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
RefSeq Acc Id: XM_054373986   ⟹   XP_054229961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01396,345,880 - 96,600,426 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001292999 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369578 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369579 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369580 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369581 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369582 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369583 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369585 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369589 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369590 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369592 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369595 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369596 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369597 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369598 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369599 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369600 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369601 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369602 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369603 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369604 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369605 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369606 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369607 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369608 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369609 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369610 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369611 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369612 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369613 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369614 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369615 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369616 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369617 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369618 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369619 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369620 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369621 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369622 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369623 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369624 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369625 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369626 (Get FASTA)   NCBI Sequence Viewer  
  NP_659002 (Get FASTA)   NCBI Sequence Viewer  
  NP_997187 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285958 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285959 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285960 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285961 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285962 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285963 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285964 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285965 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285966 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285967 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229952 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229953 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229954 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229955 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229956 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229957 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229958 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229959 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229960 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229961 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC67242 (Get FASTA)   NCBI Sequence Viewer  
  AAF71103 (Get FASTA)   NCBI Sequence Viewer  
  AAH20418 (Get FASTA)   NCBI Sequence Viewer  
  AAH32426 (Get FASTA)   NCBI Sequence Viewer  
  AAI04039 (Get FASTA)   NCBI Sequence Viewer  
  AAI04040 (Get FASTA)   NCBI Sequence Viewer  
  AAI04041 (Get FASTA)   NCBI Sequence Viewer  
  AAM09798 (Get FASTA)   NCBI Sequence Viewer  
  AAM50085 (Get FASTA)   NCBI Sequence Viewer  
  BAF84416 (Get FASTA)   NCBI Sequence Viewer  
  BAF98735 (Get FASTA)   NCBI Sequence Viewer  
  BAG65469 (Get FASTA)   NCBI Sequence Viewer  
  CAH18662 (Get FASTA)   NCBI Sequence Viewer  
  EAX08968 (Get FASTA)   NCBI Sequence Viewer  
  EAX08969 (Get FASTA)   NCBI Sequence Viewer  
  EAX08970 (Get FASTA)   NCBI Sequence Viewer  
  EAX08971 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000267287
  ENSP00000267287.7
  ENSP00000344214
  ENSP00000344214.4
  ENSP00000365861
  ENSP00000365861.3
  ENSP00000380726
  ENSP00000380726.1
  ENSP00000404202.1
  ENSP00000432422.1
  ENSP00000505596
  ENSP00000505596.1
  ENSP00000508849.1
  ENSP00000510541.1
  ENSP00000515872
  ENSP00000515872.1
  ENSP00000515878
  ENSP00000515878.1
GenBank Protein Q5VZF2 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_659002   ⟸   NM_144778
- Peptide Label: isoform 1
- UniProtKB: Q5VZF2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_997187   ⟸   NM_207304
- Peptide Label: isoform 3
- UniProtKB: A2A3S3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001292999   ⟸   NM_001306070
- Peptide Label: isoform 4
- UniProtKB: Q8NEV3 (UniProtKB/Swiss-Prot),   Q58F19 (UniProtKB/Swiss-Prot),   Q3SXY5 (UniProtKB/Swiss-Prot),   Q8TD82 (UniProtKB/Swiss-Prot),   Q5VZF2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001369578   ⟸   NM_001382649
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001369604   ⟸   NM_001382675
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001369585   ⟸   NM_001382656
- Peptide Label: isoform 3
- UniProtKB: A2A3S3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369582   ⟸   NM_001382653
- Peptide Label: isoform 3
- UniProtKB: A2A3S3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369580   ⟸   NM_001382651
- Peptide Label: isoform 3
- UniProtKB: A2A3S3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369583   ⟸   NM_001382654
- Peptide Label: isoform 3
- UniProtKB: A2A3S3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369589   ⟸   NM_001382660
- Peptide Label: isoform 3
- UniProtKB: A2A3S3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369598   ⟸   NM_001382669
- Peptide Label: isoform 5
- UniProtKB: A0A994J506 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369600   ⟸   NM_001382671
- Peptide Label: isoform 6
- UniProtKB: A0A994J509 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369579   ⟸   NM_001382650
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001369595   ⟸   NM_001382666
- Peptide Label: isoform 4
- UniProtKB: Q8NEV3 (UniProtKB/Swiss-Prot),   Q5VZF2 (UniProtKB/Swiss-Prot),   Q58F19 (UniProtKB/Swiss-Prot),   Q3SXY5 (UniProtKB/Swiss-Prot),   Q8TD82 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001369603   ⟸   NM_001382674
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001369581   ⟸   NM_001382652
- Peptide Label: isoform 3
- UniProtKB: A2A3S3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369606   ⟸   NM_001382677
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001369625   ⟸   NM_001382696
- Peptide Label: isoform 23
RefSeq Acc Id: NP_001369597   ⟸   NM_001382668
- Peptide Label: isoform 4
- UniProtKB: Q8NEV3 (UniProtKB/Swiss-Prot),   Q5VZF2 (UniProtKB/Swiss-Prot),   Q58F19 (UniProtKB/Swiss-Prot),   Q3SXY5 (UniProtKB/Swiss-Prot),   Q8TD82 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001369592   ⟸   NM_001382663
- Peptide Label: isoform 3
- UniProtKB: A2A3S3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369609   ⟸   NM_001382680
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001369619   ⟸   NM_001382690
- Peptide Label: isoform 17
RefSeq Acc Id: NP_001369618   ⟸   NM_001382689
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001369621   ⟸   NM_001382692
- Peptide Label: isoform 19
RefSeq Acc Id: NP_001369620   ⟸   NM_001382691
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001369599   ⟸   NM_001382670
- Peptide Label: isoform 5
- UniProtKB: A0A994J506 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369612   ⟸   NM_001382683
- Peptide Label: isoform 10
- UniProtKB: A0A7P0T9I3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369614   ⟸   NM_001382685
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001369602   ⟸   NM_001382673
- Peptide Label: isoform 6
- UniProtKB: A0A994J509 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369613   ⟸   NM_001382684
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001369605   ⟸   NM_001382676
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001369616   ⟸   NM_001382687
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001369615   ⟸   NM_001382686
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001369617   ⟸   NM_001382688
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001369610   ⟸   NM_001382681
- Peptide Label: isoform 9
- UniProtKB: A0PJJ3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369623   ⟸   NM_001382694
- Peptide Label: isoform 21
RefSeq Acc Id: NP_001369624   ⟸   NM_001382695
- Peptide Label: isoform 22
RefSeq Acc Id: NP_001369608   ⟸   NM_001382679
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001369622   ⟸   NM_001382693
- Peptide Label: isoform 20
RefSeq Acc Id: NP_001369626   ⟸   NM_001382697
- Peptide Label: isoform 24
RefSeq Acc Id: NP_001369611   ⟸   NM_001382682
- Peptide Label: isoform 25
RefSeq Acc Id: NP_001369601   ⟸   NM_001382672
- Peptide Label: isoform 6
- UniProtKB: A0A994J509 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369596   ⟸   NM_001382667
- Peptide Label: isoform 4
- UniProtKB: Q8NEV3 (UniProtKB/Swiss-Prot),   Q5VZF2 (UniProtKB/Swiss-Prot),   Q58F19 (UniProtKB/Swiss-Prot),   Q3SXY5 (UniProtKB/Swiss-Prot),   Q8TD82 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001369590   ⟸   NM_001382661
- Peptide Label: isoform 3
- UniProtKB: A2A3S3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369607   ⟸   NM_001382678
- Peptide Label: isoform 8
RefSeq Acc Id: ENSP00000267287   ⟸   ENST00000345429
RefSeq Acc Id: ENSP00000432422   ⟸   ENST00000469707
RefSeq Acc Id: ENSP00000365861   ⟸   ENST00000376673
RefSeq Acc Id: ENSP00000404202   ⟸   ENST00000449284
RefSeq Acc Id: ENSP00000344214   ⟸   ENST00000343600
RefSeq Acc Id: ENSP00000380726   ⟸   ENST00000397601
RefSeq Acc Id: ENSP00000505596   ⟸   ENST00000679496
RefSeq Acc Id: ENSP00000510541   ⟸   ENST00000685165
RefSeq Acc Id: ENSP00000508849   ⟸   ENST00000692685
RefSeq Acc Id: XP_047285960   ⟸   XM_047430004
- Peptide Label: isoform X2
- UniProtKB: A0A994J506 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285958   ⟸   XM_047430002
- Peptide Label: isoform X1
- UniProtKB: A0A7P0T9I3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285962   ⟸   XM_047430006
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047285961   ⟸   XM_047430005
- Peptide Label: isoform X3
- UniProtKB: A0A994J509 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285965   ⟸   XM_047430009
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047285963   ⟸   XM_047430007
- Peptide Label: isoform X5
- UniProtKB: Q8NEV3 (UniProtKB/Swiss-Prot),   Q5VZF2 (UniProtKB/Swiss-Prot),   Q58F19 (UniProtKB/Swiss-Prot),   Q3SXY5 (UniProtKB/Swiss-Prot),   Q8TD82 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047285967   ⟸   XM_047430011
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047285966   ⟸   XM_047430010
- Peptide Label: isoform X7
- UniProtKB: A2A3S3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285959   ⟸   XM_047430003
- Peptide Label: isoform X1
- UniProtKB: A0A7P0T9I3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285964   ⟸   XM_047430008
- Peptide Label: isoform X4
RefSeq Acc Id: ENSP00000515878   ⟸   ENST00000704373
RefSeq Acc Id: ENSP00000515872   ⟸   ENST00000704364
RefSeq Acc Id: XP_054229954   ⟸   XM_054373979
- Peptide Label: isoform X2
- UniProtKB: A0A994J506 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229952   ⟸   XM_054373977
- Peptide Label: isoform X1
- UniProtKB: A0A7P0T9I3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229956   ⟸   XM_054373981
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054229955   ⟸   XM_054373980
- Peptide Label: isoform X3
- UniProtKB: A0A994J509 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229959   ⟸   XM_054373984
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054229957   ⟸   XM_054373982
- Peptide Label: isoform X5
- UniProtKB: Q8NEV3 (UniProtKB/Swiss-Prot),   Q5VZF2 (UniProtKB/Swiss-Prot),   Q58F19 (UniProtKB/Swiss-Prot),   Q3SXY5 (UniProtKB/Swiss-Prot),   Q8TD82 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054229961   ⟸   XM_054373986
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054229960   ⟸   XM_054373985
- Peptide Label: isoform X7
- UniProtKB: A2A3S3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229953   ⟸   XM_054373978
- Peptide Label: isoform X1
- UniProtKB: A0A7P0T9I3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229958   ⟸   XM_054373983
- Peptide Label: isoform X4
Protein Domains
C3H1-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VZF2-F1-model_v2 AlphaFold Q5VZF2 1-373 view protein structure

Promoters
RGD ID:6790970
Promoter ID:HG_KWN:18333
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:ENST00000376679,   ENST00000376685,   ENST00000397597,   NM_144778,   NM_207304,   UC001VNB.1,   UC010AFT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361396,672,311 - 96,672,811 (+)MPROMDB
RGD ID:6850940
Promoter ID:EP73266
Type:initiation region
Name:HS_MBNL2
Description:Muscleblind-like 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361396,672,588 - 96,672,648EPD
RGD ID:7226681
Promoter ID:EPDNEW_H19086
Type:initiation region
Name:MBNL2_2
Description:muscleblind like splicing regulator 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19087  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,141,834 - 97,141,894EPDNEW
RGD ID:7226683
Promoter ID:EPDNEW_H19087
Type:initiation region
Name:MBNL2_1
Description:muscleblind like splicing regulator 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19086  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381397,222,333 - 97,222,393EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16746 AgrOrtholog
COSMIC MBNL2 COSMIC
Ensembl Genes ENSG00000139793 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000343600 ENTREZGENE
  ENST00000343600.9 UniProtKB/Swiss-Prot
  ENST00000345429 ENTREZGENE
  ENST00000345429.10 UniProtKB/Swiss-Prot
  ENST00000376673 ENTREZGENE
  ENST00000376673.8 UniProtKB/Swiss-Prot
  ENST00000397601 ENTREZGENE
  ENST00000397601.5 UniProtKB/Swiss-Prot
  ENST00000449284.1 UniProtKB/TrEMBL
  ENST00000469707.5 UniProtKB/TrEMBL
  ENST00000679496 ENTREZGENE
  ENST00000679496.1 UniProtKB/TrEMBL
  ENST00000685165.1 UniProtKB/TrEMBL
  ENST00000692685.1 UniProtKB/TrEMBL
  ENST00000704364 ENTREZGENE
  ENST00000704364.1 UniProtKB/TrEMBL
  ENST00000704373 ENTREZGENE
  ENST00000704373.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1370.210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000139793 GTEx
HGNC ID HGNC:16746 ENTREZGENE
Human Proteome Map MBNL2 Human Proteome Map
InterPro Znf-CCCH_4 UniProtKB/TrEMBL
  Znf_CCCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10150 UniProtKB/Swiss-Prot
NCBI Gene 10150 ENTREZGENE
OMIM 607327 OMIM
PANTHER MUSCLEBLIND-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUSCLEBLIND-LIKE PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-CCCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-CCCH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-CCCH_4 UniProtKB/TrEMBL
PharmGKB PA134901420 PharmGKB
PROSITE ZF_C3H1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C3H1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0T9I3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KU79_HUMAN UniProtKB/TrEMBL
  A0A8I5KYZ5_HUMAN UniProtKB/TrEMBL
  A0A994J506 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J509 ENTREZGENE, UniProtKB/TrEMBL
  A0PJJ3 ENTREZGENE, UniProtKB/TrEMBL
  A2A3S3 ENTREZGENE, UniProtKB/TrEMBL
  MBNL2_HUMAN UniProtKB/Swiss-Prot
  O95205_HUMAN UniProtKB/TrEMBL
  Q3SXY5 ENTREZGENE
  Q58F19 ENTREZGENE
  Q5JSC0_HUMAN UniProtKB/TrEMBL
  Q5VZF2 ENTREZGENE
  Q8NEV3 ENTREZGENE
  Q8TD82 ENTREZGENE
UniProt Secondary Q3SXY5 UniProtKB/Swiss-Prot
  Q58F19 UniProtKB/Swiss-Prot
  Q8NEV3 UniProtKB/Swiss-Prot
  Q8TD82 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 MBNL2  muscleblind like splicing regulator 2  MBNL2  muscleblind-like splicing regulator 2  Symbol and/or name change 5135510 APPROVED
2012-03-01 MBNL2  muscleblind-like splicing regulator 2  MBNL2  muscleblind-like 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED