NIPAL2 (NIPA like domain containing 2) - Rat Genome Database

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Gene: NIPAL2 (NIPA like domain containing 2) Homo sapiens
Analyze
Symbol: NIPAL2
Name: NIPA like domain containing 2
RGD ID: 1605636
HGNC Page HGNC:25854
Description: Predicted to enable magnesium ion transmembrane transporter activity. Predicted to be involved in magnesium ion transport. Predicted to be active in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ13955; NIPA-like domain containing 2; NIPA-like protein 2; NPAL2; SLC57A4
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
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38898,189,826 - 98,294,235 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl898,189,826 - 98,294,393 (-)EnsemblGRCh38hg38GRCh38
GRCh37899,202,054 - 99,306,463 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36899,273,563 - 99,375,797 (-)NCBINCBI36Build 36hg18NCBI36
Celera895,390,258 - 95,492,501 (-)NCBICelera
Cytogenetic Map8q22.2NCBI
HuRef894,407,842 - 94,509,957 (-)NCBIHuRef
CHM1_1899,245,097 - 99,347,324 (-)NCBICHM1_1
T2T-CHM13v2.0899,315,312 - 99,419,709 (-)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
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
amiodarone  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
belinostat  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
furan  (ISO)
gentamycin  (ISO)
indole-3-methanol  (ISO)
L-ethionine  (ISO)
mercury dibromide  (EXP)
methoxychlor  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-nitrosodiethylamine  (ISO)
omeprazole  (ISO)
orphenadrine  (ISO)
oxaliplatin  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
rac-lactic acid  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
thioacetamide  (ISO)
topotecan  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IBA,IEA)

Molecular Function

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:11827452   PMID:12477932   PMID:14702039   PMID:15317751   PMID:15342556   PMID:16344560   PMID:21873635   PMID:23400010   PMID:28298427   PMID:32393512  


Genomics

Comparative Map Data
NIPAL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38898,189,826 - 98,294,235 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl898,189,826 - 98,294,393 (-)EnsemblGRCh38hg38GRCh38
GRCh37899,202,054 - 99,306,463 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36899,273,563 - 99,375,797 (-)NCBINCBI36Build 36hg18NCBI36
Celera895,390,258 - 95,492,501 (-)NCBICelera
Cytogenetic Map8q22.2NCBI
HuRef894,407,842 - 94,509,957 (-)NCBIHuRef
CHM1_1899,245,097 - 99,347,324 (-)NCBICHM1_1
T2T-CHM13v2.0899,315,312 - 99,419,709 (-)NCBIT2T-CHM13v2.0
Nipal2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391534,572,942 - 34,679,739 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1534,572,945 - 34,679,358 (-)EnsemblGRCm39 Ensembl
GRCm381534,572,796 - 34,679,207 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1534,572,799 - 34,679,212 (-)EnsemblGRCm38mm10GRCm38
MGSCv371534,502,554 - 34,608,461 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361534,517,388 - 34,623,295 (-)NCBIMGSCv36mm8
Celera1535,199,760 - 35,313,104 (-)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1514.34NCBI
Nipal2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8767,659,628 - 67,771,105 (-)NCBIGRCr8
mRatBN7.2765,774,477 - 65,884,807 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl765,774,477 - 65,884,807 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx767,663,694 - 67,774,012 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0769,865,370 - 69,975,691 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0769,730,735 - 69,849,396 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0773,339,706 - 73,450,262 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl773,339,706 - 73,450,262 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0773,513,633 - 73,624,863 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4770,021,792 - 70,135,156 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera762,875,294 - 62,985,187 (-)NCBICelera
Cytogenetic Map7q22NCBI
Nipal2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541713,885,766 - 13,939,796 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541713,887,251 - 13,941,851 (-)NCBIChiLan1.0ChiLan1.0
NIPAL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27115,531,147 - 115,643,384 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1891,072,583 - 91,184,641 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0894,826,325 - 94,938,586 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1897,010,732 - 97,118,750 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl897,013,882 - 97,118,281 (-)Ensemblpanpan1.1panPan2
NIPAL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.113427,216 - 493,861 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl13428,752 - 493,817 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha13420,704 - 497,511 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.013576,081 - 653,048 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl13576,089 - 652,374 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.113419,280 - 496,101 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.013527,352 - 604,171 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.013533,454 - 610,316 (-)NCBIUU_Cfam_GSD_1.0
Nipal2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530337,050,208 - 37,219,765 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647044,588,168 - 44,646,651 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647044,588,211 - 44,645,860 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NIPAL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl438,491,285 - 38,574,255 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1438,491,029 - 38,576,606 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2441,534,507 - 41,632,321 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NIPAL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1893,108,371 - 93,211,595 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl893,109,205 - 93,210,445 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603947,528,647 - 47,630,454 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nipal2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247635,332,593 - 5,433,032 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247635,334,722 - 5,433,062 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NIPAL2
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_024759.1(NIPAL2):c.205-1G>A single nucleotide variant Malignant melanoma [RCV000068450] Chr8:98252635 [GRCh38]
Chr8:99264863 [GRCh37]
Chr8:99334039 [NCBI36]
Chr8:8q22.2		 not provided
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NC_000008.10:g.(?_99135566)_(100205305_?)dup duplication Cohen syndrome [RCV001980003] Chr8:99135566..100205305 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_99135566)_(106815766_?)dup duplication Cohen syndrome [RCV001997398] Chr8:99135566..106815766 [GRCh37]
Chr8:8q22.2-23.1		 uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NC_000008.10:g.(?_98358247)_(106815766_?)dup duplication not provided [RCV003122777] Chr8:98358247..106815766 [GRCh37]
Chr8:8q22.1-23.1		 uncertain significance
GRCh37/hg19 8q22.2(chr8:99132556-100021840)x3 copy number gain not provided [RCV002473675] Chr8:99132556..100021840 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11		 pathogenic
NM_001321635.2(NIPAL2):c.124C>A (p.Arg42Ser) single nucleotide variant not specified [RCV004143739] Chr8:98294014 [GRCh38]
Chr8:99306242 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.893A>G (p.Tyr298Cys) single nucleotide variant not specified [RCV004238694] Chr8:98195993 [GRCh38]
Chr8:99208221 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:99257391-99467206)x3 copy number gain not provided [RCV002475670] Chr8:99257391..99467206 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.275G>A (p.Gly92Asp) single nucleotide variant not specified [RCV004191944] Chr8:98252564 [GRCh38]
Chr8:99264792 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.349G>A (p.Ala117Thr) single nucleotide variant not specified [RCV004197578] Chr8:98252490 [GRCh38]
Chr8:99264718 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.616A>G (p.Lys206Glu) single nucleotide variant not specified [RCV004226149] Chr8:98212444 [GRCh38]
Chr8:99224672 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.101G>A (p.Gly34Asp) single nucleotide variant not specified [RCV004092789] Chr8:98294037 [GRCh38]
Chr8:99306265 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.233A>G (p.Gln78Arg) single nucleotide variant not specified [RCV004299114] Chr8:98252606 [GRCh38]
Chr8:99264834 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.302A>G (p.Glu101Gly) single nucleotide variant not specified [RCV004272105] Chr8:98252537 [GRCh38]
Chr8:99264765 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.696G>T (p.Met232Ile) single nucleotide variant not specified [RCV004278158] Chr8:98205206 [GRCh38]
Chr8:99217434 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.793T>C (p.Phe265Leu) single nucleotide variant not specified [RCV004351147] Chr8:98203195 [GRCh38]
Chr8:99215423 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3 copy number gain not provided [RCV003484742] Chr8:79046933..102008860 [GRCh37]
Chr8:8q21.12-22.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001321635.2(NIPAL2):c.583A>G (p.Ile195Val) single nucleotide variant not specified [RCV004493050] Chr8:98212477 [GRCh38]
Chr8:99224705 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.174C>G (p.Asn58Lys) single nucleotide variant not specified [RCV004493049] Chr8:98254049 [GRCh38]
Chr8:99266277 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.685G>A (p.Val229Ile) single nucleotide variant not specified [RCV004493051] Chr8:98205217 [GRCh38]
Chr8:99217445 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.753G>A (p.Met251Ile) single nucleotide variant not specified [RCV004493052] Chr8:98205149 [GRCh38]
Chr8:99217377 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.100G>T (p.Gly34Cys) single nucleotide variant not specified [RCV004647182] Chr8:98294038 [GRCh38]
Chr8:99306266 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.113G>A (p.Gly38Asp) single nucleotide variant not specified [RCV004647183] Chr8:98294025 [GRCh38]
Chr8:99306253 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.458G>T (p.Gly153Val) single nucleotide variant not specified [RCV004647184] Chr8:98222579 [GRCh38]
Chr8:99234807 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001321635.2(NIPAL2):c.773C>G (p.Ser258Cys) single nucleotide variant not specified [RCV004647186] Chr8:98205129 [GRCh38]
Chr8:99217357 [GRCh37]
Chr8:8q22.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3794
Count of miRNA genes:1064
Interacting mature miRNAs:1263
Transcripts:ENST00000341166, ENST00000430223, ENST00000519324, ENST00000520545, ENST00000520735, ENST00000521820, ENST00000521949, ENST00000522188
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406922858GWAS571834_Hneuroimaging measurement QTL GWAS571834 (human)0.000008neuroimaging measurement89822467198224672Human
407363754GWAS1012730_Hsystolic blood pressure QTL GWAS1012730 (human)5e-08systolic blood pressuresystolic blood pressure (CMO:0000004)89819128098191281Human
407293480GWAS942456_Hbody height QTL GWAS942456 (human)9e-09body height (VT:0001253)body height (CMO:0000106)89821230698212307Human

Markers in Region
D8S506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,245,546 - 99,245,668UniSTSGRCh37
GRCh37899,245,506 - 99,245,649UniSTSGRCh37
Build 36899,314,682 - 99,314,825RGDNCBI36
Celera895,431,424 - 95,431,550UniSTS
Celera895,431,384 - 95,431,531RGD
Cytogenetic Map8q22.2UniSTS
HuRef894,448,879 - 94,449,026UniSTS
HuRef894,448,919 - 94,449,045UniSTS
Marshfield Genetic Map8110.2RGD
Genethon Genetic Map8108.8UniSTS
TNG Radiation Hybrid Map846963.0UniSTS
deCODE Assembly Map8104.28UniSTS
Stanford-G3 RH Map83702.0UniSTS
Whitehead-YAC Contig Map8 UniSTS
GeneMap99-G3 RH Map83792.0UniSTS
D8S1452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,235,214 - 99,235,392UniSTSGRCh37
Build 36899,304,390 - 99,304,568RGDNCBI36
Celera895,421,089 - 95,421,267RGD
Cytogenetic Map8q22.2UniSTS
HuRef894,438,565 - 94,438,743UniSTS
Whitehead-RH Map8582.7UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map81014.0UniSTS
D8S506  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q22.2UniSTS
Marshfield Genetic Map8110.2UniSTS
Genethon Genetic Map8108.8UniSTS
deCODE Assembly Map8104.28UniSTS
Whitehead-YAC Contig Map8 UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2435 2788 2247 4966 1726 2349 4 622 1947 465 2269 7289 6459 52 3729 849 1739 1614 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001321635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI753381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL706246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW082976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP346328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU677761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA184376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA482369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC402113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000341166   ⟹   ENSP00000339256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,189,833 - 98,294,393 (-)Ensembl
Ensembl Acc Id: ENST00000430223   ⟹   ENSP00000407087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,189,826 - 98,294,235 (-)Ensembl
Ensembl Acc Id: ENST00000519324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,252,197 - 98,294,110 (-)Ensembl
Ensembl Acc Id: ENST00000520545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,192,758 - 98,251,754 (-)Ensembl
Ensembl Acc Id: ENST00000520735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,217,203 - 98,252,601 (-)Ensembl
Ensembl Acc Id: ENST00000521820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,195,691 - 98,205,176 (-)Ensembl
Ensembl Acc Id: ENST00000521949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,231,781 - 98,236,231 (-)Ensembl
Ensembl Acc Id: ENST00000522188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,217,025 - 98,254,068 (-)Ensembl
RefSeq Acc Id: NM_001321635   ⟹   NP_001308564
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,189,826 - 98,294,235 (-)NCBI
CHM1_1899,242,763 - 99,347,324 (-)NCBI
T2T-CHM13v2.0899,315,312 - 99,419,709 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321636   ⟹   NP_001308565
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,189,826 - 98,294,235 (-)NCBI
CHM1_1899,242,763 - 99,347,324 (-)NCBI
T2T-CHM13v2.0899,315,312 - 99,419,709 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024759   ⟹   NP_079035
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,189,826 - 98,294,235 (-)NCBI
GRCh37899,202,054 - 99,307,444 (-)NCBI
Build 36899,273,563 - 99,375,797 (-)NCBI Archive
Celera895,390,258 - 95,492,501 (-)RGD
HuRef894,407,842 - 94,509,957 (-)RGD
CHM1_1899,242,763 - 99,347,324 (-)NCBI
T2T-CHM13v2.0899,315,312 - 99,419,709 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135745
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,189,826 - 98,294,235 (-)NCBI
CHM1_1899,242,763 - 99,347,324 (-)NCBI
T2T-CHM13v2.0899,315,312 - 99,419,709 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135746
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,189,826 - 98,294,235 (-)NCBI
CHM1_1899,242,763 - 99,347,324 (-)NCBI
T2T-CHM13v2.0899,315,312 - 99,419,709 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135747
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,189,826 - 98,294,235 (-)NCBI
CHM1_1899,242,763 - 99,347,324 (-)NCBI
T2T-CHM13v2.0899,315,312 - 99,419,709 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517302   ⟹   XP_011515604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,213,041 - 98,294,235 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422243   ⟹   XP_047278199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,217,200 - 98,294,235 (-)NCBI
RefSeq Acc Id: XM_054361244   ⟹   XP_054217219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0899,341,068 - 99,419,709 (-)NCBI
RefSeq Acc Id: XM_054361245   ⟹   XP_054217220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0899,342,696 - 99,419,709 (-)NCBI
RefSeq Acc Id: XR_008487882
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0899,330,646 - 99,419,709 (-)NCBI
RefSeq Acc Id: XR_928352
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,205,160 - 98,294,235 (-)NCBI
Sequence:
RefSeq Acc Id: NP_079035   ⟸   NM_024759
- Peptide Label: isoform b
- UniProtKB: Q9H841 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515604   ⟸   XM_011517302
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001308565   ⟸   NM_001321636
- Peptide Label: isoform c
- UniProtKB: Q9H841 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308564   ⟸   NM_001321635
- Peptide Label: isoform a
- UniProtKB: A2RTY8 (UniProtKB/Swiss-Prot),   Q9H841 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000407087   ⟸   ENST00000430223
Ensembl Acc Id: ENSP00000339256   ⟸   ENST00000341166
RefSeq Acc Id: XP_047278199   ⟸   XM_047422243
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054217219   ⟸   XM_054361244
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054217220   ⟸   XM_054361245
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H841-F1-model_v2 AlphaFold Q9H841 1-383 view protein structure

Promoters
RGD ID:7213859
Promoter ID:EPDNEW_H12675
Type:initiation region
Name:NIPAL2_3
Description:NIPA like domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12676  EPDNEW_H12677  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,294,235 - 98,294,295EPDNEW
RGD ID:7213861
Promoter ID:EPDNEW_H12676
Type:initiation region
Name:NIPAL2_1
Description:NIPA like domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12675  EPDNEW_H12677  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,294,371 - 98,294,431EPDNEW
RGD ID:7213863
Promoter ID:EPDNEW_H12677
Type:initiation region
Name:NIPAL2_2
Description:NIPA like domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12675  EPDNEW_H12676  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,294,509 - 98,294,569EPDNEW
RGD ID:6806914
Promoter ID:HG_KWN:61778
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_024759,   UC003YIM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36899,375,346 - 99,375,846 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25854 AgrOrtholog
COSMIC NIPAL2 COSMIC
Ensembl Genes ENSG00000104361 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000341166 ENTREZGENE
  ENST00000341166.3 UniProtKB/Swiss-Prot
  ENST00000430223 ENTREZGENE
  ENST00000430223.7 UniProtKB/Swiss-Prot
GTEx ENSG00000104361 GTEx
HGNC ID HGNC:25854 ENTREZGENE
Human Proteome Map NIPAL2 Human Proteome Map
InterPro Mg_trans_NIPA UniProtKB/Swiss-Prot
KEGG Report hsa:79815 UniProtKB/Swiss-Prot
NCBI Gene 79815 ENTREZGENE
PANTHER NIPA-LIKE PROTEIN 2 UniProtKB/Swiss-Prot
  PTHR12570 UniProtKB/Swiss-Prot
Pfam Mg_trans_NIPA UniProtKB/Swiss-Prot
PharmGKB PA164723926 PharmGKB
Superfamily-SCOP Multidrug resistance efflux transporter EmrE UniProtKB/Swiss-Prot
UniProt A2RTY8 ENTREZGENE
  NPAL2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A2RTY8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 NIPAL2  NIPA like domain containing 2    NIPA-like domain containing 2  Symbol and/or name change 5135510 APPROVED