NUFIP2 (nuclear FMR1 interacting protein 2) - Rat Genome Database

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Gene: NUFIP2 (nuclear FMR1 interacting protein 2) Homo sapiens
Analyze
Symbol: NUFIP2
Name: nuclear FMR1 interacting protein 2
RGD ID: 1606255
HGNC Page HGNC:17634
Description: Enables RNA binding activity. Located in several cellular components, including cytoplasmic stress granule; nuclear body; and ribosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 182-FIP; 82 kDa FMRP-interacting protein; 82-FIP; 82-kD FMRP Interacting Protein; cell proliferation-inducing gene 1 protein; FIP-82; FLJ10976; FMR1-interacting protein NUFIP2; FMRP-interacting protein 2; Fragile X Mental Retardation Protein; KIAA1321; MGC117262; nuclear fragile X mental retardation protein interacting protein 2; nuclear fragile X mental retardation-interacting protein 2; NUFIP2, FMR1 interacting protein 2; NUFP2; PIG1; proliferation-inducing gene 1
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
GRCh381729,255,839 - 29,294,148 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1729,255,839 - 29,294,148 (-)EnsemblGRCh38hg38GRCh38
GRCh371727,582,857 - 27,621,166 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361724,612,772 - 24,645,203 (-)NCBINCBI36Build 36hg18NCBI36
Celera1724,442,372 - 24,480,641 (-)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,791,510 - 23,829,875 (-)NCBIHuRef
CHM1_11727,645,565 - 27,683,850 (-)NCBICHM1_1
T2T-CHM13v2.01730,198,607 - 30,236,882 (-)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
cytoplasm  (IDA,IEA)
cytoplasmic stress granule  (IBA,IDA,IEA)
cytosol  (IDA)
membrane  (HDA)
nuclear body  (IDA)
nucleoplasm  (IBA,IDA)
nucleus  (IDA,IEA)
ribosome  (IDA)

Molecular Function
protein binding  (IPI)
RNA binding  (HDA,IBA,IDA,IEA)

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10718198   PMID:12477932   PMID:12837692   PMID:14702039   PMID:15144186   PMID:15324660   PMID:15345747   PMID:15489334   PMID:16407062   PMID:16964243   PMID:17081983  
PMID:18029348   PMID:19322201   PMID:19542561   PMID:19615732   PMID:19946888   PMID:20020773   PMID:21145461   PMID:21280222   PMID:21653829   PMID:21873635   PMID:22586326   PMID:22658674  
PMID:22681889   PMID:23182705   PMID:23979707   PMID:24130170   PMID:24457600   PMID:24778252   PMID:24981860   PMID:25281560   PMID:25416956   PMID:25631074   PMID:25665578   PMID:25737280  
PMID:25814554   PMID:26170170   PMID:26184334   PMID:26186194   PMID:26471122   PMID:26496610   PMID:26638075   PMID:26725010   PMID:26777405   PMID:26831064   PMID:27025967   PMID:27173435  
PMID:27684187   PMID:27705803   PMID:27880917   PMID:28302793   PMID:28431233   PMID:28514442   PMID:28977666   PMID:29180619   PMID:29298432   PMID:29352114   PMID:29395067   PMID:29509190  
PMID:30196744   PMID:30209976   PMID:30455355   PMID:30737378   PMID:30995489   PMID:31048545   PMID:31073040   PMID:31091453   PMID:31239290   PMID:31300519   PMID:31391242   PMID:31462707  
PMID:31462741   PMID:31527615   PMID:31586073   PMID:31640799   PMID:31980649   PMID:32239614   PMID:32296183   PMID:32457219   PMID:32525608   PMID:32529326   PMID:32572027   PMID:32780723  
PMID:32788342   PMID:32807901   PMID:32814053   PMID:32905556   PMID:32994395   PMID:33001583   PMID:33144569   PMID:33306668   PMID:33397691   PMID:33417871   PMID:33545068   PMID:33916271  
PMID:33961781   PMID:34079125   PMID:34226595   PMID:34244565   PMID:34316702   PMID:34650049   PMID:34672954   PMID:34702444   PMID:34709727   PMID:34728620   PMID:34795231   PMID:34901782  
PMID:35013218   PMID:35031058   PMID:35063084   PMID:35264565   PMID:35271311   PMID:35338135   PMID:35439318   PMID:35446349   PMID:35709258   PMID:35819319   PMID:35831314   PMID:35833506  
PMID:35850772   PMID:35906200   PMID:35944360   PMID:35987950   PMID:36057605   PMID:36095012   PMID:36114006   PMID:36199071   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36373674  
PMID:36424410   PMID:36470425   PMID:36526897   PMID:36560452   PMID:36574265   PMID:36736316   PMID:36949045   PMID:36964488   PMID:37151849   PMID:37499664   PMID:37536630   PMID:37827155  
PMID:37949069   PMID:38113892   PMID:38280479  


Genomics

Comparative Map Data
NUFIP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381729,255,839 - 29,294,148 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1729,255,839 - 29,294,148 (-)EnsemblGRCh38hg38GRCh38
GRCh371727,582,857 - 27,621,166 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361724,612,772 - 24,645,203 (-)NCBINCBI36Build 36hg18NCBI36
Celera1724,442,372 - 24,480,641 (-)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,791,510 - 23,829,875 (-)NCBIHuRef
CHM1_11727,645,565 - 27,683,850 (-)NCBICHM1_1
T2T-CHM13v2.01730,198,607 - 30,236,882 (-)NCBIT2T-CHM13v2.0
Nufip2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391177,576,566 - 77,608,792 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1177,576,981 - 77,632,747 (+)EnsemblGRCm39 Ensembl
GRCm381177,685,764 - 77,717,966 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1177,686,155 - 77,741,921 (+)EnsemblGRCm38mm10GRCm38
MGSCv371177,499,641 - 77,531,468 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361177,502,350 - 77,534,161 (+)NCBIMGSCv36mm8
Celera1185,184,653 - 85,216,467 (+)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.74NCBI
Nufip2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81063,072,964 - 63,105,823 (+)NCBIGRCr8
mRatBN7.21062,574,922 - 62,607,729 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1062,574,882 - 62,600,346 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01065,168,145 - 65,200,210 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1065,176,648 - 65,200,109 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01066,425,324 - 66,450,225 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41063,725,565 - 63,751,011 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1061,556,666 - 61,581,176 (+)NCBICelera
Cytogenetic Map10q24NCBI
Nufip2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554813,922,211 - 3,950,832 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554813,922,211 - 3,950,832 (+)NCBIChiLan1.0ChiLan1.0
NUFIP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21935,164,124 - 35,204,750 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11737,045,268 - 37,085,895 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01727,482,374 - 27,521,466 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11727,994,745 - 28,031,451 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1727,994,745 - 28,022,755 (+)Ensemblpanpan1.1panPan2
NUFIP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1943,380,048 - 43,411,597 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl943,365,378 - 43,411,571 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha942,534,845 - 42,566,387 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0944,197,388 - 44,228,962 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl944,182,771 - 44,228,949 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1942,980,258 - 43,011,807 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0943,272,512 - 43,304,043 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0943,351,708 - 43,383,260 (-)NCBIUU_Cfam_GSD_1.0
Nufip2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560242,533,951 - 42,557,855 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365385,411,896 - 5,435,799 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NUFIP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1245,473,685 - 45,506,581 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11245,473,687 - 45,506,587 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21247,450,157 - 47,458,408 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NUFIP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11623,012,707 - 23,049,736 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1623,021,413 - 23,049,756 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660757,054,367 - 7,092,040 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nufip2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247861,778,295 - 1,808,077 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NUFIP2
43 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020772.2(NUFIP2):c.1030C>T (p.Pro344Ser) single nucleotide variant Malignant melanoma [RCV000063173] Chr17:29286964 [GRCh38]
Chr17:27613982 [GRCh37]
Chr17:24638108 [NCBI36]
Chr17:17q11.2
not provided
NM_020772.2(NUFIP2):c.802C>A (p.Gln268Lys) single nucleotide variant Malignant melanoma [RCV000063174] Chr17:29287192 [GRCh38]
Chr17:27614210 [GRCh37]
Chr17:24638336 [NCBI36]
Chr17:17q11.2
not provided
NM_020772.2(NUFIP2):c.2003-281G>T single nucleotide variant Lung cancer [RCV000100406] Chr17:29267811 [GRCh38]
Chr17:27594829 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1 copy number loss See cases [RCV000143027] Chr17:28947825..32490020 [GRCh38]
Chr17:27274843..30817038 [GRCh37]
Chr17:24298969..27841151 [NCBI36]
Chr17:17q11.2
pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 copy number gain not provided [RCV000762776] Chr17:25403446..31685464 [GRCh37]
Chr17:17q11.1-11.2
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_020772.3(NUFIP2):c.1277A>G (p.Asn426Ser) single nucleotide variant Inborn genetic diseases [RCV003253255] Chr17:29286717 [GRCh38]
Chr17:27613735 [GRCh37]
Chr17:17q11.2
likely benign
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1 copy number loss Mitogen-activated protein kinase kinase inhibitor response [RCV000626439] Chr17:25248166..30645676 [GRCh37]
Chr17:17q11.1-11.2
drug response
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_020772.3(NUFIP2):c.912A>G (p.Ser304=) single nucleotide variant not provided [RCV000919417] Chr17:29287082 [GRCh38]
Chr17:27614100 [GRCh37]
Chr17:17q11.2
likely benign
NM_020772.3(NUFIP2):c.1518G>A (p.Gln506=) single nucleotide variant not provided [RCV000900793] Chr17:29286476 [GRCh38]
Chr17:27613494 [GRCh37]
Chr17:17q11.2
likely benign
NM_020772.3(NUFIP2):c.794A>G (p.Tyr265Cys) single nucleotide variant not provided [RCV000948997] Chr17:29287200 [GRCh38]
Chr17:27614218 [GRCh37]
Chr17:17q11.2
benign
NM_020772.3(NUFIP2):c.1630T>C (p.Leu544=) single nucleotide variant not provided [RCV000927257] Chr17:29286364 [GRCh38]
Chr17:27613382 [GRCh37]
Chr17:17q11.2
likely benign
NM_020772.3(NUFIP2):c.1174A>G (p.Thr392Ala) single nucleotide variant not provided [RCV000885082] Chr17:29286820 [GRCh38]
Chr17:27613838 [GRCh37]
Chr17:17q11.2
likely benign
NM_020772.3(NUFIP2):c.323T>C (p.Leu108Ser) single nucleotide variant not provided [RCV000948998] Chr17:29287671 [GRCh38]
Chr17:27614689 [GRCh37]
Chr17:17q11.2
benign
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2
pathogenic
NM_020772.3(NUFIP2):c.28C>T (p.Pro10Ser) single nucleotide variant Inborn genetic diseases [RCV003288821] Chr17:29294032 [GRCh38]
Chr17:27621050 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.1856A>G (p.Tyr619Cys) single nucleotide variant Inborn genetic diseases [RCV003246492] Chr17:29286138 [GRCh38]
Chr17:27613156 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.1704G>A (p.Glu568=) single nucleotide variant not provided [RCV000910552] Chr17:29286290 [GRCh38]
Chr17:27613308 [GRCh37]
Chr17:17q11.2
likely benign
NM_020772.3(NUFIP2):c.278-7C>T single nucleotide variant not provided [RCV000909776] Chr17:29287723 [GRCh38]
Chr17:27614741 [GRCh37]
Chr17:17q11.2
likely benign
NM_020772.3(NUFIP2):c.1539T>C (p.Asn513=) single nucleotide variant not provided [RCV000918344] Chr17:29286455 [GRCh38]
Chr17:27613473 [GRCh37]
Chr17:17q11.2
likely benign
NM_020772.3(NUFIP2):c.826T>C (p.Ser276Pro) single nucleotide variant not provided [RCV000969921] Chr17:29287168 [GRCh38]
Chr17:27614186 [GRCh37]
Chr17:17q11.2
likely benign
NM_020772.3(NUFIP2):c.723G>A (p.Gln241=) single nucleotide variant not provided [RCV000915153] Chr17:29287271 [GRCh38]
Chr17:27614289 [GRCh37]
Chr17:17q11.2
likely benign
NM_020772.3(NUFIP2):c.354C>T (p.Asn118=) single nucleotide variant not provided [RCV000909390] Chr17:29287640 [GRCh38]
Chr17:27614658 [GRCh37]
Chr17:17q11.2
likely benign
NM_020772.3(NUFIP2):c.610G>A (p.Gly204Ser) single nucleotide variant not provided [RCV000954757] Chr17:29287384 [GRCh38]
Chr17:27614402 [GRCh37]
Chr17:17q11.2
likely benign
NM_020772.3(NUFIP2):c.1662A>G (p.Ser554=) single nucleotide variant not provided [RCV000879837] Chr17:29286332 [GRCh38]
Chr17:27613350 [GRCh37]
Chr17:17q11.2
benign
NM_020772.3(NUFIP2):c.144C>T (p.His48=) single nucleotide variant not provided [RCV000962489] Chr17:29293916 [GRCh38]
Chr17:27620934 [GRCh37]
Chr17:17q11.2
benign
NM_020772.3(NUFIP2):c.1005C>A (p.Thr335=) single nucleotide variant not provided [RCV000977351] Chr17:29286989 [GRCh38]
Chr17:27614007 [GRCh37]
Chr17:17q11.2
likely benign
NM_020772.3(NUFIP2):c.44G>A (p.Ser15Asn) single nucleotide variant not provided [RCV000973554] Chr17:29294016 [GRCh38]
Chr17:27621034 [GRCh37]
Chr17:17q11.2
benign
GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3 copy number gain not provided [RCV001006886] Chr17:25274363..28450707 [GRCh37]
Chr17:17q11.1-11.2
pathogenic
GRCh37/hg19 17q11.2(chr17:27573641-28206747)x3 copy number gain not provided [RCV001259333] Chr17:27573641..28206747 [GRCh37]
Chr17:17q11.2
uncertain significance
NC_000017.10:g.(?_27573882)_(29576157_?)del deletion Neurofibromatosis, type 1 [RCV003109263] Chr17:27573882..29576157 [GRCh37]
Chr17:17q11.2
pathogenic
GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232) copy number gain not specified [RCV002052591] Chr17:21690653..28281232 [GRCh37]
Chr17:17p11.2-q11.2
pathogenic
NC_000017.10:g.(?_26684694)_(29701173_?)dup duplication not provided [RCV003123018] Chr17:26684694..29701173 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17q11.2(chr17:27552278-27842559)x3 copy number gain not provided [RCV002474966] Chr17:27552278..27842559 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.949G>T (p.Asp317Tyr) single nucleotide variant Inborn genetic diseases [RCV002687663] Chr17:29287045 [GRCh38]
Chr17:27614063 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.1421A>G (p.Tyr474Cys) single nucleotide variant Inborn genetic diseases [RCV002840200] Chr17:29286573 [GRCh38]
Chr17:27613591 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.1838T>G (p.Val613Gly) single nucleotide variant Inborn genetic diseases [RCV002884134] Chr17:29286156 [GRCh38]
Chr17:27613174 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.662C>T (p.Pro221Leu) single nucleotide variant Inborn genetic diseases [RCV002794246] Chr17:29287332 [GRCh38]
Chr17:27614350 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.907A>G (p.Ser303Gly) single nucleotide variant Inborn genetic diseases [RCV002989912] Chr17:29287087 [GRCh38]
Chr17:27614105 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.1115A>G (p.Asn372Ser) single nucleotide variant Inborn genetic diseases [RCV002758657] Chr17:29286879 [GRCh38]
Chr17:27613897 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.686A>G (p.Asn229Ser) single nucleotide variant Inborn genetic diseases [RCV003001489] Chr17:29287308 [GRCh38]
Chr17:27614326 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.1843C>A (p.Leu615Ile) single nucleotide variant Inborn genetic diseases [RCV002887086] Chr17:29286151 [GRCh38]
Chr17:27613169 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.1758T>G (p.Ser586Arg) single nucleotide variant Inborn genetic diseases [RCV002950840] Chr17:29286236 [GRCh38]
Chr17:27613254 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.1295G>A (p.Gly432Asp) single nucleotide variant Inborn genetic diseases [RCV002850701] Chr17:29286699 [GRCh38]
Chr17:27613717 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.1235C>T (p.Ala412Val) single nucleotide variant Inborn genetic diseases [RCV002709561] Chr17:29286759 [GRCh38]
Chr17:27613777 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.827C>T (p.Ser276Leu) single nucleotide variant Inborn genetic diseases [RCV002961510] Chr17:29287167 [GRCh38]
Chr17:27614185 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.263C>A (p.Pro88Gln) single nucleotide variant Inborn genetic diseases [RCV002769443] Chr17:29293797 [GRCh38]
Chr17:27620815 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.1319C>G (p.Ala440Gly) single nucleotide variant Inborn genetic diseases [RCV002961033] Chr17:29286675 [GRCh38]
Chr17:27613693 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.590A>G (p.Tyr197Cys) single nucleotide variant Inborn genetic diseases [RCV002965937] Chr17:29287404 [GRCh38]
Chr17:27614422 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.976G>C (p.Ala326Pro) single nucleotide variant Inborn genetic diseases [RCV003279460] Chr17:29287018 [GRCh38]
Chr17:27614036 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_020772.3(NUFIP2):c.1336A>C (p.Ile446Leu) single nucleotide variant Inborn genetic diseases [RCV003195900] Chr17:29286658 [GRCh38]
Chr17:27613676 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3 copy number gain Developmental delay with or without intellectual impairment or behavioral abnormalities [RCV003329553] Chr17:25263507..27829791 [GRCh37]
Chr17:17q11.1-11.2
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR590hsa-miR-590-3pTarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:2828
Count of miRNA genes:1047
Interacting mature miRNAs:1275
Transcripts:ENST00000225388, ENST00000579665
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
G31143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,590,436 - 27,590,541UniSTSGRCh37
Build 361724,614,562 - 24,614,667RGDNCBI36
Celera1724,449,952 - 24,450,057RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,799,084 - 23,799,189UniSTS
RH39377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,584,699 - 27,584,819UniSTSGRCh37
Build 361724,608,825 - 24,608,945RGDNCBI36
Celera1724,444,217 - 24,444,337RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,793,355 - 23,793,475UniSTS
RH80000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,582,902 - 27,583,109UniSTSGRCh37
Build 361724,607,028 - 24,607,235RGDNCBI36
Celera1724,442,420 - 24,442,627RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,791,558 - 23,791,765UniSTS
RH67690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,614,446 - 27,614,549UniSTSGRCh37
Build 361724,638,572 - 24,638,675RGDNCBI36
Celera1724,473,923 - 24,474,026RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,823,157 - 23,823,260UniSTS
RH91719  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,585,280 - 27,585,436UniSTSGRCh37
Build 361724,609,406 - 24,609,562RGDNCBI36
Celera1724,444,798 - 24,444,954RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,793,936 - 23,794,092UniSTS
RH98857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,583,098 - 27,583,245UniSTSGRCh37
Build 361724,607,224 - 24,607,371RGDNCBI36
Celera1724,442,616 - 24,442,763RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,791,754 - 23,791,901UniSTS
RH17557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,614,574 - 27,614,690UniSTSGRCh37
Build 361724,638,700 - 24,638,816RGDNCBI36
Celera1724,474,051 - 24,474,167RGD
Cytogenetic Map17q11.2UniSTS
D17S1373E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,585,220 - 27,585,445UniSTSGRCh37
Build 361724,609,346 - 24,609,571RGDNCBI36
Celera1724,444,738 - 24,444,963RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,793,876 - 23,794,101UniSTS
D17S1664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,585,162 - 27,585,436UniSTSGRCh37
Build 361724,609,288 - 24,609,562RGDNCBI36
Celera1724,444,680 - 24,444,954RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,793,818 - 23,794,092UniSTS
G32997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,614,446 - 27,614,549UniSTSGRCh37
Celera1724,473,923 - 24,474,026UniSTS
Cytogenetic Map17q11.2UniSTS
HuRef1723,823,157 - 23,823,260UniSTS


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 2373 2187 1589 504 1612 346 3946 1493 2267 311 1443 1608 174 1 1197 2397 6 2
Low 66 803 137 120 338 119 411 704 1467 108 17 5 1 7 391
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_020772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ493465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY232289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC129989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC129990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM969349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000225388   ⟹   ENSP00000225388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1729,255,839 - 29,294,148 (-)Ensembl
RefSeq Acc Id: ENST00000579665   ⟹   ENSP00000463450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1729,264,399 - 29,294,115 (-)Ensembl
RefSeq Acc Id: NM_020772   ⟹   NP_065823
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381729,255,839 - 29,294,148 (-)NCBI
GRCh371727,582,854 - 27,621,166 (-)RGD
Build 361724,612,772 - 24,645,203 (-)NCBI Archive
Celera1724,442,372 - 24,480,641 (-)RGD
HuRef1723,791,510 - 23,829,875 (-)ENTREZGENE
CHM1_11727,645,565 - 27,683,850 (-)NCBI
T2T-CHM13v2.01730,198,607 - 30,236,882 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024896   ⟹   XP_016880385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381729,255,839 - 29,291,034 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054316746   ⟹   XP_054172721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01730,198,607 - 30,235,187 (-)NCBI
RefSeq Acc Id: NP_065823   ⟸   NM_020772
- UniProtKB: A1L3A7 (UniProtKB/Swiss-Prot),   A1L3A6 (UniProtKB/Swiss-Prot),   Q9P2M5 (UniProtKB/Swiss-Prot),   Q7Z417 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016880385   ⟸   XM_017024896
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000463450   ⟸   ENST00000579665
RefSeq Acc Id: ENSP00000225388   ⟸   ENST00000225388
RefSeq Acc Id: XP_054172721   ⟸   XM_054316746
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z417-F1-model_v2 AlphaFold Q7Z417 1-695 view protein structure

Promoters
RGD ID:7234479
Promoter ID:EPDNEW_H22985
Type:initiation region
Name:NUFIP2_1
Description:NUFIP2, FMR1 interacting protein 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
GRCh381729,294,148 - 29,294,208EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17634 AgrOrtholog
COSMIC NUFIP2 COSMIC
Ensembl Genes ENSG00000108256 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000225388 ENTREZGENE
  ENST00000225388.9 UniProtKB/Swiss-Prot
  ENST00000579665.1 UniProtKB/Swiss-Prot
GTEx ENSG00000108256 GTEx
HGNC ID HGNC:17634 ENTREZGENE
Human Proteome Map NUFIP2 Human Proteome Map
InterPro NUFIP2 UniProtKB/Swiss-Prot
KEGG Report hsa:57532 UniProtKB/Swiss-Prot
NCBI Gene 57532 ENTREZGENE
OMIM 609356 OMIM
PANTHER NUCLEAR FRAGILE X MENTAL RETARDATION-INTERACTING PROTEIN 2 UniProtKB/Swiss-Prot
  PTHR28333 UniProtKB/Swiss-Prot
Pfam NUFIP2 UniProtKB/Swiss-Prot
PharmGKB PA143485564 PharmGKB
UniProt A1L3A6 ENTREZGENE
  A1L3A7 ENTREZGENE
  NUFP2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9P2M5 ENTREZGENE
UniProt Secondary A1L3A6 UniProtKB/Swiss-Prot
  A1L3A7 UniProtKB/Swiss-Prot
  Q9P2M5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-21 NUFIP2  nuclear FMR1 interacting protein 2    NUFIP2, FMR1 interacting protein 2  Symbol and/or name change 5135510 APPROVED
2016-05-10 NUFIP2  NUFIP2, FMR1 interacting protein 2    nuclear fragile X mental retardation protein interacting protein 2  Symbol and/or name change 5135510 APPROVED