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
Description: Predicted to have magnesium ion transmembrane transporter activity. Predicted to be involved in magnesium ion transport. Predicted to localize to membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-hydroxypropanoic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also 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 Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl898,189,826 - 98,294,393 (-)EnsemblGRCh38hg38GRCh38
GRCh38898,189,826 - 98,294,235 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37899,202,054 - 99,306,463 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36899,273,563 - 99,375,797 (-)NCBINCBI36hg18NCBI36
Celera895,390,258 - 95,492,501 (-)NCBI
Cytogenetic Map8q22.2NCBI
HuRef894,407,842 - 94,509,957 (-)NCBIHuRef
CHM1_1899,242,763 - 99,347,324 (-)NCBICHM1_1
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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8889548   PMID:11827452   PMID:12477932   PMID:14702039   PMID:15317751   PMID:15342556   PMID:16344560   PMID:21873635   PMID:23400010   PMID:28298427  


Genomics

Comparative Map Data
NIPAL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl898,189,826 - 98,294,393 (-)EnsemblGRCh38hg38GRCh38
GRCh38898,189,826 - 98,294,235 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37899,202,054 - 99,306,463 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36899,273,563 - 99,375,797 (-)NCBINCBI36hg18NCBI36
Celera895,390,258 - 95,492,501 (-)NCBI
Cytogenetic Map8q22.2NCBI
HuRef894,407,842 - 94,509,957 (-)NCBIHuRef
CHM1_1899,242,763 - 99,347,324 (-)NCBICHM1_1
Nipal2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391534,572,942 - 34,679,739 (-)NCBIGRCm39mm39
GRCm39 Ensembl1534,572,945 - 34,679,358 (-)Ensembl
GRCm381534,572,796 - 34,679,207 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1534,572,799 - 34,679,212 (-)EnsemblGRCm38mm10GRCm38
MGSCv371534,502,554 - 34,608,461 (-)NCBIGRCm37mm9NCBIm37
MGSCv361534,517,388 - 34,623,295 (-)NCBImm8
Celera1535,199,760 - 35,313,104 (-)NCBICelera
Cytogenetic Map15B3.1NCBI
Nipal2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2765,774,477 - 65,884,807 (-)NCBI
Rnor_6.0 Ensembl773,339,706 - 73,450,262 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0773,339,706 - 73,450,262 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0773,513,633 - 73,624,863 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4770,021,792 - 70,135,156 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.1897,010,732 - 97,118,750 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl897,013,882 - 97,118,281 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0894,826,325 - 94,938,586 (-)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.013576,081 - 653,048 (-)NCBI
UMICH_Zoey_3.113419,280 - 496,101 (-)NCBI
UNSW_CanFamBas_1.013527,352 - 604,171 (-)NCBI
UU_Cfam_GSD_1.013533,454 - 610,316 (-)NCBI
Nipal2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530337,050,208 - 37,219,765 (+)NCBI
SpeTri2.0NW_00493647044,588,211 - 44,645,860 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NIPAL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl438,491,245 - 38,587,448 (+)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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1893,108,371 - 93,211,595 (-)NCBI
ChlSab1.1 Ensembl893,109,205 - 93,210,445 (-)Ensembl
Nipal2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247635,334,722 - 5,433,062 (-)NCBI

Position Markers
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

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.


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
High
Medium 1302 1049 1220 273 906 115 2946 380 1865 178 1094 1303 166 1010 1654 1
Low 1129 1895 504 348 980 348 1389 1781 1822 239 349 296 5 1 194 1118 1
Below cutoff 4 42 2 1 61 2 21 33 42 1 12 11 3 16 2

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
  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_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
  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

Reference Sequences
RefSeq Acc Id: ENST00000341166   ⟹   ENSP00000339256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,189,833 - 98,294,393 (-)Ensembl
RefSeq Acc Id: ENST00000430223   ⟹   ENSP00000407087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,189,826 - 98,294,235 (-)Ensembl
RefSeq Acc Id: ENST00000519324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,252,197 - 98,294,110 (-)Ensembl
RefSeq Acc Id: ENST00000520545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,192,758 - 98,251,754 (-)Ensembl
RefSeq Acc Id: ENST00000520735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,217,203 - 98,252,601 (-)Ensembl
RefSeq Acc Id: ENST00000521820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,195,691 - 98,205,176 (-)Ensembl
RefSeq Acc Id: ENST00000521949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,231,781 - 98,236,231 (-)Ensembl
RefSeq Acc Id: ENST00000522188
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
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
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
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
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
Sequence:
RefSeq Acc Id: XM_011517302   ⟹   XP_011515604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,215,609 - 98,294,231 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745598
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,189,826 - 98,294,231 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745599
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,189,826 - 98,294,231 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928351
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,193,004 - 98,294,231 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928352
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,205,160 - 98,294,231 (-)NCBI
Sequence:
Reference Sequences
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: Q9H841 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000407087   ⟸   ENST00000430223
RefSeq Acc Id: ENSP00000339256   ⟸   ENST00000341166

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

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
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25854 AgrOrtholog
COSMIC NIPAL2 COSMIC
Ensembl Genes ENSG00000104361 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000339256 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000407087 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000341166 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000430223 ENTREZGENE, 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 PTHR12570 UniProtKB/Swiss-Prot
Pfam Mg_trans_NIPA UniProtKB/Swiss-Prot
PharmGKB PA164723926 PharmGKB
UniProt 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