NEMP2 (nuclear envelope integral membrane protein 2) - Rat Genome Database

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Gene: NEMP2 (nuclear envelope integral membrane protein 2) Homo sapiens
Analyze
Symbol: NEMP2
Name: nuclear envelope integral membrane protein 2
RGD ID: 2293905
HGNC Page HGNC:33700
Description: Predicted to be located in nuclear inner membrane. Predicted to be active in nuclear envelope.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: TMEM194B; transmembrane protein 194B; UPF0571 transmembrane protein
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
GRCh382190,421,421 - 190,648,785 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2190,504,338 - 190,534,722 (-)EnsemblGRCh38hg38GRCh38
GRCh372191,369,064 - 191,399,448 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362191,077,313 - 191,108,164 (-)NCBINCBI36Build 36hg18NCBI36
Celera2184,966,557 - 184,994,411 (-)NCBICelera
Cytogenetic Map2q32.2NCBI
HuRef2183,231,166 - 183,259,021 (-)NCBIHuRef
CHM1_12191,377,431 - 191,405,282 (-)NCBICHM1_1
T2T-CHM13v2.02190,930,561 - 191,096,453 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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:11181995   PMID:15815621   PMID:16344560   PMID:21873635   PMID:25946333   PMID:28514442   PMID:29507755   PMID:33961781  


Genomics

Comparative Map Data
NEMP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382190,421,421 - 190,648,785 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2190,504,338 - 190,534,722 (-)EnsemblGRCh38hg38GRCh38
GRCh372191,369,064 - 191,399,448 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362191,077,313 - 191,108,164 (-)NCBINCBI36Build 36hg18NCBI36
Celera2184,966,557 - 184,994,411 (-)NCBICelera
Cytogenetic Map2q32.2NCBI
HuRef2183,231,166 - 183,259,021 (-)NCBIHuRef
CHM1_12191,377,431 - 191,405,282 (-)NCBICHM1_1
T2T-CHM13v2.02190,930,561 - 191,096,453 (-)NCBIT2T-CHM13v2.0
Nemp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39152,669,850 - 52,691,078 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl152,669,862 - 52,691,078 (+)EnsemblGRCm39 Ensembl
GRCm38152,568,535 - 52,651,919 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl152,630,703 - 52,651,919 (+)EnsemblGRCm38mm10GRCm38
MGSCv37152,687,549 - 52,708,763 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36152,575,292 - 52,595,181 (+)NCBIMGSCv36mm8
Celera153,171,476 - 53,192,690 (+)NCBICelera
Cytogenetic Map1C1.1NCBI
cM Map126.99NCBI
Nemp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8956,353,233 - 56,372,586 (-)NCBIGRCr8
mRatBN7.2948,861,252 - 48,880,565 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl948,861,252 - 48,880,512 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx957,403,304 - 57,422,604 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0962,526,134 - 62,545,434 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0960,822,129 - 60,841,431 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0953,713,598 - 53,732,858 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl953,713,598 - 53,732,858 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0953,380,915 - 53,400,175 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4945,848,645 - 45,867,905 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera946,529,998 - 46,549,258 (-)NCBICelera
Cytogenetic Map9q22NCBI
Nemp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554038,596,778 - 8,618,508 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554038,602,056 - 8,620,417 (+)NCBIChiLan1.0ChiLan1.0
NEMP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21393,172,608 - 93,217,039 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B93,201,714 - 93,232,023 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B77,792,444 - 77,836,649 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B195,709,125 - 195,752,471 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B195,727,677 - 195,744,992 (-)Ensemblpanpan1.1panPan2
NEMP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1371,073,117 - 1,104,249 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl371,085,482 - 1,096,484 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha372,024,384 - 2,053,286 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.037962,678 - 991,577 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl37970,288 - 991,743 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.137972,716 - 1,001,544 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.037940,563 - 969,417 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.037969,154 - 998,068 (-)NCBIUU_Cfam_GSD_1.0
Nemp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303149,167,855 - 149,190,491 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365067,656,225 - 7,670,225 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365067,647,575 - 7,670,215 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEMP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1595,097,154 - 95,140,478 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11595,111,131 - 95,513,414 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215106,492,684 - 106,519,888 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NEMP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11076,007,127 - 76,036,169 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1076,009,416 - 76,026,235 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040123,436,456 - 123,464,596 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nemp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248545,540,486 - 5,557,971 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248545,534,535 - 5,562,172 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NEMP2
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1		 pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1		 pathogenic
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 copy number loss See cases [RCV000138253] Chr2:181758701..192015392 [GRCh38]
Chr2:182623428..192880118 [GRCh37]
Chr2:182331673..192588363 [NCBI36]
Chr2:2q31.3-32.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 copy number loss See cases [RCV000141735] Chr2:177827730..195125329 [GRCh38]
Chr2:178692457..195990053 [GRCh37]
Chr2:178400703..195698298 [NCBI36]
Chr2:2q31.2-32.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3		 pathogenic
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001142645.2(NEMP2):c.88G>C (p.Ala30Pro) single nucleotide variant not specified [RCV004309544] Chr2:190534568 [GRCh38]
Chr2:191399294 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.85A>G (p.Ile29Val) single nucleotide variant not specified [RCV004328566] Chr2:190436114 [GRCh38]
Chr2:191300840 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 copy number loss not provided [RCV000740789] Chr2:189490490..200615496 [GRCh37]
Chr2:2q32.2-33.1		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_017694.4(MFSD6):c.1226C>T (p.Pro409Leu) single nucleotide variant not specified [RCV004300289] Chr2:190437255 [GRCh38]
Chr2:191301981 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3		 pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NC_000002.11:g.(?_189839216)_(192012929_?)dup duplication Immunodeficiency 31B [RCV003107719]|not provided [RCV003113217] Chr2:189839216..192012929 [GRCh37]
Chr2:2q32.2-32.3		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV001255693] Chr2:190345272..200212289 [GRCh37]
Chr2:2q32.2-33.1		 pathogenic
GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3 copy number gain not provided [RCV001258567] Chr2:188294864..197731939 [GRCh37]
Chr2:2q32.1-33.1		 likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
NM_017694.4(MFSD6):c.945G>A (p.Gln315=) single nucleotide variant not provided [RCV000971486] Chr2:190436974 [GRCh38]
Chr2:191301700 [GRCh37]
Chr2:2q32.2		 benign
NM_017694.4(MFSD6):c.198C>T (p.Asn66=) single nucleotide variant not provided [RCV000952501] Chr2:190436227 [GRCh38]
Chr2:191300953 [GRCh37]
Chr2:2q32.2		 benign
NM_017694.4(MFSD6):c.885C>T (p.Val295=) single nucleotide variant not provided [RCV000958521] Chr2:190436914 [GRCh38]
Chr2:191301640 [GRCh37]
Chr2:2q32.2		 benign
NM_017694.4(MFSD6):c.161T>C (p.Ile54Thr) single nucleotide variant not provided [RCV000962001] Chr2:190436190 [GRCh38]
Chr2:191300916 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1 copy number loss not provided [RCV002472632] Chr2:187152754..199960525 [GRCh37]
Chr2:2q32.1-33.1		 pathogenic
NM_001142645.2(NEMP2):c.1109C>G (p.Ser370Cys) single nucleotide variant not specified [RCV004154860] Chr2:190510382 [GRCh38]
Chr2:191375108 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1129G>A (p.Val377Ile) single nucleotide variant not specified [RCV004241842] Chr2:190437158 [GRCh38]
Chr2:191301884 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.922A>G (p.Ile308Val) single nucleotide variant not specified [RCV004162177] Chr2:190436951 [GRCh38]
Chr2:191301677 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.934G>A (p.Ala312Thr) single nucleotide variant not specified [RCV004135607] Chr2:190514472 [GRCh38]
Chr2:191379198 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1283G>T (p.Ser428Ile) single nucleotide variant not specified [RCV004141861] Chr2:190437312 [GRCh38]
Chr2:191302038 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1033G>A (p.Gly345Arg) single nucleotide variant not specified [RCV004200006] Chr2:190437062 [GRCh38]
Chr2:191301788 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.2350G>C (p.Ala784Pro) single nucleotide variant not specified [RCV004172220] Chr2:190500192 [GRCh38]
Chr2:191364918 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.1024C>A (p.Gln342Lys) single nucleotide variant not specified [RCV004237359] Chr2:190510467 [GRCh38]
Chr2:191375193 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.822A>C (p.Gln274His) single nucleotide variant not specified [RCV004220632] Chr2:190436851 [GRCh38]
Chr2:191301577 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.247G>A (p.Val83Ile) single nucleotide variant not specified [RCV004139439] Chr2:190519150 [GRCh38]
Chr2:191383876 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.767C>T (p.Thr256Ile) single nucleotide variant not specified [RCV004151886] Chr2:190436796 [GRCh38]
Chr2:191301522 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.2312G>T (p.Ser771Ile) single nucleotide variant not specified [RCV004195079] Chr2:190500154 [GRCh38]
Chr2:191364880 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.658G>A (p.Val220Ile) single nucleotide variant not specified [RCV004122750] Chr2:190516339 [GRCh38]
Chr2:191381065 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1261G>C (p.Glu421Gln) single nucleotide variant not specified [RCV004117432] Chr2:190437290 [GRCh38]
Chr2:191302016 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1607T>G (p.Val536Gly) single nucleotide variant not specified [RCV004105337] Chr2:190469832 [GRCh38]
Chr2:191334558 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.620C>A (p.Thr207Asn) single nucleotide variant not specified [RCV004168640] Chr2:190516377 [GRCh38]
Chr2:191381103 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.733A>T (p.Ser245Cys) single nucleotide variant not specified [RCV004094683] Chr2:190436762 [GRCh38]
Chr2:191301488 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.321C>G (p.Asn107Lys) single nucleotide variant not specified [RCV004229773] Chr2:190519076 [GRCh38]
Chr2:191383802 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.77C>T (p.Ala26Val) single nucleotide variant not specified [RCV004208932] Chr2:190534579 [GRCh38]
Chr2:191399305 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.2302G>A (p.Ala768Thr) single nucleotide variant not specified [RCV004208921] Chr2:190500144 [GRCh38]
Chr2:191364870 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.794C>T (p.Thr265Ile) single nucleotide variant not specified [RCV004241615] Chr2:190436823 [GRCh38]
Chr2:191301549 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.329G>A (p.Arg110His) single nucleotide variant not specified [RCV004181186] Chr2:190436358 [GRCh38]
Chr2:191301084 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.586C>T (p.Arg196Cys) single nucleotide variant not specified [RCV004118647] Chr2:190436615 [GRCh38]
Chr2:191301341 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.557G>C (p.Gly186Ala) single nucleotide variant not specified [RCV004072551] Chr2:190517575 [GRCh38]
Chr2:191382301 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1175G>A (p.Arg392His) single nucleotide variant not specified [RCV004102237] Chr2:190437204 [GRCh38]
Chr2:191301930 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.904A>T (p.Ser302Cys) single nucleotide variant not specified [RCV004103489] Chr2:190436933 [GRCh38]
Chr2:191301659 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.817G>T (p.Asp273Tyr) single nucleotide variant not specified [RCV004192544] Chr2:190436846 [GRCh38]
Chr2:191301572 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.73G>A (p.Glu25Lys) single nucleotide variant not specified [RCV004081616] Chr2:190534583 [GRCh38]
Chr2:191399309 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.602T>C (p.Phe201Ser) single nucleotide variant not specified [RCV004205978] Chr2:190517530 [GRCh38]
Chr2:191382256 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.667G>A (p.Val223Ile) single nucleotide variant not specified [RCV004214960] Chr2:190516330 [GRCh38]
Chr2:191381056 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.529T>A (p.Phe177Ile) single nucleotide variant not specified [RCV004096300] Chr2:190517603 [GRCh38]
Chr2:191382329 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.275A>G (p.Tyr92Cys) single nucleotide variant not specified [RCV004262387] Chr2:190436304 [GRCh38]
Chr2:191301030 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.487A>G (p.Ile163Val) single nucleotide variant not specified [RCV004258599] Chr2:190436516 [GRCh38]
Chr2:191301242 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1289C>T (p.Ser430Leu) single nucleotide variant not specified [RCV004251339] Chr2:190437318 [GRCh38]
Chr2:191302044 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.2236C>A (p.His746Asn) single nucleotide variant not specified [RCV004264197] Chr2:190500078 [GRCh38]
Chr2:191364804 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1241A>G (p.Asn414Ser) single nucleotide variant not specified [RCV004252827] Chr2:190437270 [GRCh38]
Chr2:191301996 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.1084G>A (p.Asp362Asn) single nucleotide variant not specified [RCV004258971] Chr2:190510407 [GRCh38]
Chr2:191375133 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1106A>G (p.Gln369Arg) single nucleotide variant not specified [RCV004316320] Chr2:190437135 [GRCh38]
Chr2:191301861 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_001142645.2(NEMP2):c.820A>G (p.Met274Val) single nucleotide variant not specified [RCV004345200] Chr2:190514586 [GRCh38]
Chr2:191379312 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1994T>C (p.Ile665Thr) single nucleotide variant not specified [RCV004357069] Chr2:190497541 [GRCh38]
Chr2:191362267 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.2012C>T (p.Pro671Leu) single nucleotide variant not specified [RCV004350767] Chr2:190497559 [GRCh38]
Chr2:191362285 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1216G>T (p.Val406Leu) single nucleotide variant not specified [RCV004343965] Chr2:190437245 [GRCh38]
Chr2:191301971 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1439C>T (p.Thr480Ile) single nucleotide variant not specified [RCV004356929] Chr2:190437468 [GRCh38]
Chr2:191302194 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1208G>C (p.Gly403Ala) single nucleotide variant not specified [RCV004417128] Chr2:190437237 [GRCh38]
Chr2:191301963 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1690C>G (p.Pro564Ala) single nucleotide variant not specified [RCV004417129] Chr2:190488716 [GRCh38]
Chr2:191353442 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.2068G>A (p.Val690Ile) single nucleotide variant not specified [RCV004417132] Chr2:190497615 [GRCh38]
Chr2:191362341 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.2305C>A (p.His769Asn) single nucleotide variant not specified [RCV004417135] Chr2:190500147 [GRCh38]
Chr2:191364873 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.1823T>C (p.Met608Thr) single nucleotide variant not specified [RCV004417130] Chr2:190489798 [GRCh38]
Chr2:191354524 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.2299C>T (p.Pro767Ser) single nucleotide variant not specified [RCV004417134] Chr2:190500141 [GRCh38]
Chr2:191364867 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_017694.4(MFSD6):c.2216A>G (p.Gln739Arg) single nucleotide variant not specified [RCV004417133] Chr2:190500058 [GRCh38]
Chr2:191364784 [GRCh37]
Chr2:2q32.2		 likely benign
NM_017694.4(MFSD6):c.253C>T (p.Leu85Phe) single nucleotide variant not specified [RCV004417136] Chr2:190436282 [GRCh38]
Chr2:191301008 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.167A>G (p.Asn56Ser) single nucleotide variant not specified [RCV004478888] Chr2:190525309 [GRCh38]
Chr2:191390035 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.233G>C (p.Gly78Ala) single nucleotide variant not specified [RCV004478892] Chr2:190519164 [GRCh38]
Chr2:191383890 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.100C>T (p.Arg34Cys) single nucleotide variant not specified [RCV004478874] Chr2:190525376 [GRCh38]
Chr2:191390102 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_001142645.2(NEMP2):c.559G>A (p.Val187Ile) single nucleotide variant not specified [RCV004478908] Chr2:190517573 [GRCh38]
Chr2:191382299 [GRCh37]
Chr2:2q32.2		 likely benign
NM_001142645.2(NEMP2):c.694T>C (p.Trp232Arg) single nucleotide variant not specified [RCV004478926] Chr2:190516303 [GRCh38]
Chr2:191381029 [GRCh37]
Chr2:2q32.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2384
Count of miRNA genes:1078
Interacting mature miRNAs:1317
Transcripts:ENST00000343105, ENST00000409150, ENST00000414176, ENST00000421038, ENST00000444545, ENST00000492292
Prediction methods:Microtar, 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
RH93655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,371,809 - 191,371,974UniSTSGRCh37
Build 362191,080,054 - 191,080,219RGDNCBI36
Celera2184,966,747 - 184,966,912RGD
Cytogenetic Map2q32.2UniSTS
HuRef2183,231,356 - 183,231,521UniSTS
GeneMap99-GB4 RH Map2602.96UniSTS


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 30 9 3 290 4 34 15 13 22 97 54 6
Low 2402 2598 1696 601 1438 442 3757 1461 3479 390 1350 1556 165 1204 2225 4
Below cutoff 4 387 20 18 222 19 564 718 231 7 11 1 2 1 563 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001142645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007068185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA521390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA417772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA987403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000343105   ⟹   ENSP00000340087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,516,264 - 190,534,678 (-)Ensembl
RefSeq Acc Id: ENST00000409150   ⟹   ENSP00000386292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,504,338 - 190,534,722 (-)Ensembl
RefSeq Acc Id: ENST00000414176   ⟹   ENSP00000404283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,510,498 - 190,534,349 (-)Ensembl
RefSeq Acc Id: ENST00000421038   ⟹   ENSP00000410306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,519,117 - 190,534,357 (-)Ensembl
RefSeq Acc Id: ENST00000444545   ⟹   ENSP00000403867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,514,452 - 190,525,325 (-)Ensembl
RefSeq Acc Id: ENST00000492292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,518,736 - 190,534,328 (-)Ensembl
RefSeq Acc Id: NM_001142645   ⟹   NP_001136117
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,504,338 - 190,534,722 (-)NCBI
GRCh372191,371,619 - 191,399,468 (-)RGD
Celera2184,966,557 - 184,994,411 (-)RGD
HuRef2183,231,166 - 183,259,021 (-)RGD
CHM1_12191,377,431 - 191,405,282 (-)NCBI
T2T-CHM13v2.02190,993,655 - 191,024,045 (-)NCBI
Sequence:
RefSeq Acc Id: NR_136298
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,504,338 - 190,534,722 (-)NCBI
CHM1_12191,377,431 - 191,405,282 (-)NCBI
T2T-CHM13v2.02190,993,655 - 191,024,045 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005246212   ⟹   XP_005246269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,504,338 - 190,534,360 (-)NCBI
GRCh372191,371,619 - 191,399,468 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510458   ⟹   XP_011508760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,454,092 - 190,534,722 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510459   ⟹   XP_011508761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,504,338 - 190,534,360 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003098   ⟹   XP_016858587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,490,614 - 190,607,126 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003099   ⟹   XP_016858588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,468,802 - 190,607,126 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003100   ⟹   XP_016858589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,454,092 - 190,607,126 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047441941   ⟹   XP_047297897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,421,421 - 190,534,722 (-)NCBI
RefSeq Acc Id: XM_047441946   ⟹   XP_047297902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,468,802 - 190,534,722 (-)NCBI
RefSeq Acc Id: XM_047441958   ⟹   XP_047297914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,504,338 - 190,648,785 (-)NCBI
RefSeq Acc Id: XM_047441961   ⟹   XP_047297917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,504,338 - 190,534,360 (-)NCBI
RefSeq Acc Id: XM_054340047   ⟹   XP_054196022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,993,655 - 191,096,453 (-)NCBI
RefSeq Acc Id: XM_054340048   ⟹   XP_054196023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,979,841 - 191,096,453 (-)NCBI
RefSeq Acc Id: XM_054340049   ⟹   XP_054196024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,957,994 - 191,096,453 (-)NCBI
RefSeq Acc Id: XM_054340050   ⟹   XP_054196025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,957,995 - 191,024,045 (-)NCBI
RefSeq Acc Id: XM_054340051   ⟹   XP_054196026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,993,655 - 191,023,776 (-)NCBI
RefSeq Acc Id: XM_054340052   ⟹   XP_054196027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,993,655 - 191,023,776 (-)NCBI
RefSeq Acc Id: XM_054340053   ⟹   XP_054196028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,993,655 - 191,023,773 (-)NCBI
RefSeq Acc Id: XR_007068185
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,454,092 - 190,534,722 (-)NCBI
RefSeq Acc Id: XR_008486238
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,930,561 - 191,096,453 (-)NCBI
RefSeq Acc Id: XR_008486239
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,930,561 - 191,024,045 (-)NCBI
RefSeq Acc Id: XR_008486240
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02190,930,561 - 191,024,045 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001136117   ⟸   NM_001142645
- Peptide Label: precursor
- UniProtKB: B4DYG6 (UniProtKB/Swiss-Prot),   A6NFY4 (UniProtKB/Swiss-Prot),   B7Z482 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005246269   ⟸   XM_005246212
- Peptide Label: isoform X7
- UniProtKB: B7Z482 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011508760   ⟸   XM_011510458
- Peptide Label: isoform X6
- UniProtKB: B7Z482 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011508761   ⟸   XM_011510459
- Peptide Label: isoform X7
- UniProtKB: B7Z482 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858589   ⟸   XM_017003100
- Peptide Label: isoform X3
- UniProtKB: B7Z482 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858588   ⟸   XM_017003099
- Peptide Label: isoform X2
- UniProtKB: B7Z482 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858587   ⟸   XM_017003098
- Peptide Label: isoform X1
- UniProtKB: B7Z482 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000404283   ⟸   ENST00000414176
RefSeq Acc Id: ENSP00000403867   ⟸   ENST00000444545
RefSeq Acc Id: ENSP00000386292   ⟸   ENST00000409150
RefSeq Acc Id: ENSP00000410306   ⟸   ENST00000421038
RefSeq Acc Id: ENSP00000340087   ⟸   ENST00000343105
RefSeq Acc Id: XP_047297897   ⟸   XM_047441941
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047297902   ⟸   XM_047441946
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047297914   ⟸   XM_047441958
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047297917   ⟸   XM_047441961
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054196024   ⟸   XM_054340049
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054196025   ⟸   XM_054340050
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054196023   ⟸   XM_054340048
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054196022   ⟸   XM_054340047
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054196027   ⟸   XM_054340052
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054196026   ⟸   XM_054340051
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054196028   ⟸   XM_054340053
- Peptide Label: isoform X8

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NFY4-F1-model_v2 AlphaFold A6NFY4 1-417 view protein structure

Promoters
RGD ID:6798342
Promoter ID:HG_KWN:36387
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000335301
Position:
Human AssemblyChrPosition (strand)Source
Build 362191,099,026 - 191,099,526 (-)MPROMDB
RGD ID:6796667
Promoter ID:HG_KWN:36388
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000343105,   ENST00000409150,   OTTHUMT00000335300,   OTTHUMT00000335302,   OTTHUMT00000335303,   OTTHUMT00000335304,   OTTHUMT00000335305
Position:
Human AssemblyChrPosition (strand)Source
Build 362191,106,026 - 191,107,777 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33700 AgrOrtholog
COSMIC NEMP2 COSMIC
Ensembl Genes ENSG00000189362 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000343105.9 UniProtKB/TrEMBL
  ENST00000409150 ENTREZGENE
  ENST00000409150.8 UniProtKB/Swiss-Prot
  ENST00000414176.5 UniProtKB/Swiss-Prot
  ENST00000421038.1 UniProtKB/TrEMBL
  ENST00000444545.5 UniProtKB/TrEMBL
GTEx ENSG00000189362 GTEx
HGNC ID HGNC:33700 ENTREZGENE
Human Proteome Map NEMP2 Human Proteome Map
InterPro NEMP_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100131211 UniProtKB/Swiss-Prot
NCBI Gene 100131211 ENTREZGENE
OMIM 616497 OMIM
PANTHER NUCLEAR ENVELOPE INTEGRAL MEMBRANE PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13598 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NEMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162406311 PharmGKB
UniProt A6NFY4 ENTREZGENE
  B4DYG6 ENTREZGENE
  B7Z482 ENTREZGENE, UniProtKB/TrEMBL
  C9J4F2_HUMAN UniProtKB/TrEMBL
  F8VWJ7_HUMAN UniProtKB/TrEMBL
  H7C232_HUMAN UniProtKB/TrEMBL
  NEMP2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DYG6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-06-02 NEMP2  nuclear envelope integral membrane protein 2  TMEM194B  transmembrane protein 194B  Symbol and/or name change 5135510 APPROVED