ERMN (ermin) - Rat Genome Database

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Gene: ERMN (ermin) Homo sapiens
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Symbol: ERMN
Name: ermin
RGD ID: 1318095
HGNC Page HGNC:29208
Description: Predicted to enable actin filament binding activity. Involved in actin filament organization; regulation of cell projection organization; and regulation of cell shape. Located in cell cortex; internode region of axon; and paranode region of axon.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: JN; juxtanodin; KIAA1189
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
GRCh382157,318,631 - 157,327,712 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2157,318,631 - 157,327,713 (-)EnsemblGRCh38hg38GRCh38
GRCh372158,175,143 - 158,184,224 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362157,883,371 - 157,892,392 (-)NCBINCBI36Build 36hg18NCBI36
Celera2151,788,269 - 151,797,290 (-)NCBICelera
Cytogenetic Map2q24.1NCBI
HuRef2150,060,700 - 150,069,721 (-)NCBIHuRef
CHM1_12158,181,143 - 158,190,164 (-)NCBICHM1_1
T2T-CHM13v2.02157,771,771 - 157,780,852 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:10574461   PMID:16051705   PMID:16344560   PMID:16421295   PMID:17207965   PMID:19034380   PMID:19056867   PMID:19165527   PMID:19953087   PMID:20468071   PMID:20934411   PMID:21832049  
PMID:21873635   PMID:28514442   PMID:31123898   PMID:31343991   PMID:32296183   PMID:33961781   PMID:34676516  


Genomics

Comparative Map Data
ERMN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382157,318,631 - 157,327,712 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2157,318,631 - 157,327,713 (-)EnsemblGRCh38hg38GRCh38
GRCh372158,175,143 - 158,184,224 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362157,883,371 - 157,892,392 (-)NCBINCBI36Build 36hg18NCBI36
Celera2151,788,269 - 151,797,290 (-)NCBICelera
Cytogenetic Map2q24.1NCBI
HuRef2150,060,700 - 150,069,721 (-)NCBIHuRef
CHM1_12158,181,143 - 158,190,164 (-)NCBICHM1_1
T2T-CHM13v2.02157,771,771 - 157,780,852 (-)NCBIT2T-CHM13v2.0
Ermn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39257,874,920 - 57,942,962 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl257,935,125 - 57,942,876 (-)EnsemblGRCm39 Ensembl
GRCm38258,045,115 - 58,052,864 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl258,045,113 - 58,052,864 (-)EnsemblGRCm38mm10GRCm38
MGSCv37257,897,526 - 57,905,163 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36257,860,501 - 57,868,138 (-)NCBIMGSCv36mm8
Celera259,806,673 - 59,814,324 (-)NCBICelera
Cytogenetic Map2C1.1NCBI
cM Map232.99NCBI
Ermn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8363,037,001 - 63,042,657 (-)NCBIGRCr8
mRatBN7.2342,628,160 - 42,633,816 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl342,626,309 - 42,633,744 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx345,959,546 - 45,965,202 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0354,555,965 - 54,561,629 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0352,335,697 - 52,341,346 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0344,080,350 - 44,086,006 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl344,068,057 - 44,086,022 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0349,193,350 - 49,199,006 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4339,822,600 - 39,828,256 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1339,718,973 - 39,724,628 (-)NCBI
Celera340,696,717 - 40,702,373 (-)NCBICelera
Cytogenetic Map3q21NCBI
Ermn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544916,057,595 - 16,061,861 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544916,056,735 - 16,064,734 (+)NCBIChiLan1.0ChiLan1.0
ERMN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21359,989,035 - 59,996,320 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B60,004,009 - 60,011,294 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B44,583,336 - 44,590,623 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B161,823,765 - 161,831,104 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B161,823,765 - 161,831,104 (-)Ensemblpanpan1.1panPan2
ERMN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1363,355,519 - 3,363,214 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl363,358,125 - 3,363,129 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha363,493,085 - 3,500,771 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0363,477,897 - 3,485,582 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl363,477,898 - 3,485,488 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1363,480,234 - 3,487,919 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0363,539,981 - 3,547,675 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0363,577,877 - 3,585,565 (-)NCBIUU_Cfam_GSD_1.0
Ermn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303120,500,905 - 120,507,928 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493646921,109,752 - 21,116,909 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493646921,109,812 - 21,116,815 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERMN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1564,286,054 - 64,293,154 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11564,286,038 - 64,293,270 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21571,280,941 - 71,285,638 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ERMN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11042,732,155 - 42,745,664 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1042,729,668 - 42,737,379 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040156,838,321 - 156,845,714 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ermn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247328,486,421 - 8,491,118 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247328,486,514 - 8,493,085 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ERMN
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 copy number gain See cases [RCV000052950] Chr2:154366788..167048902 [GRCh38]
Chr2:155223300..167905412 [GRCh37]
Chr2:154931546..167613658 [NCBI36]
Chr2:2q24.1-24.3		 pathogenic
GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1 copy number loss See cases [RCV000054090] Chr2:147251948..157856378 [GRCh38]
Chr2:148009516..158712890 [GRCh37]
Chr2:147725986..158421136 [NCBI36]
Chr2:2q22.3-24.1		 pathogenic
GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1 copy number loss See cases [RCV000054093] Chr2:148917286..163204623 [GRCh38]
Chr2:149674855..164061133 [GRCh37]
Chr2:149391325..163769379 [NCBI36]
Chr2:2q23.1-24.3		 pathogenic
NM_001009959.2(ERMN):c.587A>G (p.Asp196Gly) single nucleotide variant Malignant melanoma [RCV000060356] Chr2:157321578 [GRCh38]
Chr2:158178090 [GRCh37]
Chr2:157886336 [NCBI36]
Chr2:2q24.1		 not provided
GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3 copy number gain See cases [RCV000135402] Chr2:143900149..158321624 [GRCh38]
Chr2:144657717..159178136 [GRCh37]
Chr2:144374187..158886382 [NCBI36]
Chr2:2q22.3-24.1		 pathogenic
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1		 pathogenic
GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1 copy number loss See cases [RCV000142963] Chr2:153609714..158185125 [GRCh38]
Chr2:154466227..159041637 [GRCh37]
Chr2:154174473..158749883 [NCBI36]
Chr2:2q23.3-24.1		 pathogenic
GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1 copy number loss See cases [RCV000142664] Chr2:151932344..159419734 [GRCh38]
Chr2:152788858..160276245 [GRCh37]
Chr2:152497104..159984491 [NCBI36]
Chr2:2q23.3-24.2		 pathogenic|likely pathogenic
Single allele deletion Autism spectrum disorder [RCV000225489] Chr2:154507239..157810705 [GRCh38]
Chr2:155363751..158667217 [GRCh37]
Chr2:2q24.1		 likely pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3		 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 2q24.1(chr2:158183948-158300390)x1 copy number loss See cases [RCV000445743] Chr2:158183948..158300390 [GRCh37]
Chr2:2q24.1		 likely benign
GRCh37/hg19 2q24.1(chr2:158165086-158183948)x3 copy number gain See cases [RCV000448377] Chr2:158165086..158183948 [GRCh37]
Chr2:2q24.1		 likely benign
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
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3		 drug response
NM_020711.3(ERMN):c.439A>G (p.Arg147Gly) single nucleotide variant not specified [RCV004288634] Chr2:157321687 [GRCh38]
Chr2:158178199 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.506A>T (p.Asp169Val) single nucleotide variant not specified [RCV004281633] Chr2:157321620 [GRCh38]
Chr2:158178132 [GRCh37]
Chr2:2q24.1		 uncertain significance
GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1 copy number loss See cases [RCV000512264] Chr2:157970774..169270675 [GRCh37]
Chr2:2q24.1-24.3		 pathogenic
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 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2		 pathogenic
NM_020711.3(ERMN):c.154G>A (p.Ala52Thr) single nucleotide variant not provided [RCV000964621] Chr2:157325489 [GRCh38]
Chr2:158182001 [GRCh37]
Chr2:2q24.1		 benign
NM_020711.3(ERMN):c.611T>C (p.Ile204Thr) single nucleotide variant not specified [RCV004282453] Chr2:157321515 [GRCh38]
Chr2:158178027 [GRCh37]
Chr2:2q24.1		 uncertain significance
GRCh37/hg19 2q24.1(chr2:157117939-158422574)x1 copy number loss not provided [RCV001005344] Chr2:157117939..158422574 [GRCh37]
Chr2:2q24.1		 likely pathogenic
GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1 copy number loss not provided [RCV001005326] Chr2:147173792..158346266 [GRCh37]
Chr2:2q22.3-24.1		 pathogenic
GRCh37/hg19 2q24.1(chr2:157873775-158514510)x3 copy number gain See cases [RCV001007414] Chr2:157873775..158514510 [GRCh37]
Chr2:2q24.1		 uncertain significance
GRCh37/hg19 2q24.1(chr2:156696086-159450561)x1 copy number loss not provided [RCV001259776] Chr2:156696086..159450561 [GRCh37]
Chr2:2q24.1		 likely pathogenic
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
NM_020711.3(ERMN):c.429A>C (p.Glu143Asp) single nucleotide variant not specified [RCV004271623] Chr2:157321697 [GRCh38]
Chr2:158178209 [GRCh37]
Chr2:2q24.1		 uncertain significance
GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3 copy number gain not provided [RCV001825170] Chr2:152967964..160089210 [GRCh37]
Chr2:2q23.3-24.2		 not provided
GRCh37/hg19 2q23.3-24.1(chr2:154852961-159126250)x1 copy number loss not provided [RCV001827793] Chr2:154852961..159126250 [GRCh37]
Chr2:2q23.3-24.1		 pathogenic
GRCh37/hg19 2q23.3-24.1(chr2:154328530-158759642)x1 copy number loss not provided [RCV001827767] Chr2:154328530..158759642 [GRCh37]
Chr2:2q23.3-24.1		 pathogenic
GRCh37/hg19 2q24.1(chr2:156528912-158233672)x3 copy number gain not provided [RCV002472484] Chr2:156528912..158233672 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.52C>T (p.Pro18Ser) single nucleotide variant not specified [RCV004136306] Chr2:157325591 [GRCh38]
Chr2:158182103 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.767C>A (p.Ser256Tyr) single nucleotide variant not specified [RCV004104630] Chr2:157321359 [GRCh38]
Chr2:158177871 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.328A>G (p.Arg110Gly) single nucleotide variant not specified [RCV004203074] Chr2:157324676 [GRCh38]
Chr2:158181188 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.428A>C (p.Glu143Ala) single nucleotide variant not specified [RCV004223590] Chr2:157321698 [GRCh38]
Chr2:158178210 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.355C>T (p.Pro119Ser) single nucleotide variant not specified [RCV004101899] Chr2:157321771 [GRCh38]
Chr2:158178283 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.368G>T (p.Ser123Ile) single nucleotide variant not specified [RCV004126453] Chr2:157321758 [GRCh38]
Chr2:158178270 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.572A>G (p.Asp191Gly) single nucleotide variant not specified [RCV004232601] Chr2:157321554 [GRCh38]
Chr2:158178066 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.247C>T (p.Pro83Ser) single nucleotide variant not specified [RCV004092276] Chr2:157324757 [GRCh38]
Chr2:158181269 [GRCh37]
Chr2:2q24.1		 likely benign
NM_020711.3(ERMN):c.70C>G (p.Gln24Glu) single nucleotide variant not specified [RCV004118517] Chr2:157325573 [GRCh38]
Chr2:158182085 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.563A>G (p.Asp188Gly) single nucleotide variant not specified [RCV004189078] Chr2:157321563 [GRCh38]
Chr2:158178075 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.202A>G (p.Met68Val) single nucleotide variant not specified [RCV004174110] Chr2:157325441 [GRCh38]
Chr2:158181953 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.743G>A (p.Ser248Asn) single nucleotide variant not specified [RCV004316893] Chr2:157321383 [GRCh38]
Chr2:158177895 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.32C>A (p.Ala11Asp) single nucleotide variant not specified [RCV004264064] Chr2:157325611 [GRCh38]
Chr2:158182123 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.590A>G (p.Asp197Gly) single nucleotide variant not specified [RCV004310279] Chr2:157321536 [GRCh38]
Chr2:158178048 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.452G>A (p.Gly151Asp) single nucleotide variant not specified [RCV004337094] Chr2:157321674 [GRCh38]
Chr2:158178186 [GRCh37]
Chr2:2q24.1		 uncertain significance
GRCh37/hg19 2q24.1(chr2:158147122-158266377)x1 copy number loss not provided [RCV003485127] Chr2:158147122..158266377 [GRCh37]
Chr2:2q24.1		 uncertain significance
GRCh37/hg19 2q24.1(chr2:156828817-158377885)x1 copy number loss not provided [RCV003485116] Chr2:156828817..158377885 [GRCh37]
Chr2:2q24.1		 pathogenic
GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1 copy number loss not specified [RCV003986232] Chr2:157718631..165360287 [GRCh37]
Chr2:2q24.1-24.3		 pathogenic
NM_020711.3(ERMN):c.577A>G (p.Asn193Asp) single nucleotide variant not specified [RCV004380725] Chr2:157321549 [GRCh38]
Chr2:158178061 [GRCh37]
Chr2:2q24.1		 likely benign
NM_020711.3(ERMN):c.430G>T (p.Asp144Tyr) single nucleotide variant not specified [RCV004380724] Chr2:157321696 [GRCh38]
Chr2:158178208 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.341A>G (p.Gln114Arg) single nucleotide variant not specified [RCV004618023] Chr2:157321785 [GRCh38]
Chr2:158178297 [GRCh37]
Chr2:2q24.1		 uncertain significance
NM_020711.3(ERMN):c.74C>A (p.Thr25Lys) single nucleotide variant not specified [RCV004618022] Chr2:157325569 [GRCh38]
Chr2:158182081 [GRCh37]
Chr2:2q24.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2836
Count of miRNA genes:912
Interacting mature miRNAs:1062
Transcripts:ENST00000397283, ENST00000409216, ENST00000409395, ENST00000409925, ENST00000410096, ENST00000411762, ENST00000419116, ENST00000420317, ENST00000420719, ENST00000535935
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH94328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,175,363 - 158,175,484UniSTSGRCh37
Build 362157,883,609 - 157,883,730RGDNCBI36
Celera2151,788,507 - 151,788,628RGD
Cytogenetic Map2q24.1UniSTS
HuRef2150,060,938 - 150,061,059UniSTS
GeneMap99-GB4 RH Map2513.32UniSTS


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
1201 2349 2752 2218 4880 1638 2122 1 578 1921 417 2222 6980 6336 28 3685 749 1603 1454 167 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001009959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA736604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB033015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI207881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV727436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI598234 (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
  DA248817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA288720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB576268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC322056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC331726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC343891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ334271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000397283   ⟹   ENSP00000380453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2157,318,639 - 157,327,713 (-)Ensembl
Ensembl Acc Id: ENST00000409216   ⟹   ENSP00000387049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2157,321,685 - 157,325,824 (-)Ensembl
Ensembl Acc Id: ENST00000409395   ⟹   ENSP00000387339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2157,320,997 - 157,325,873 (-)Ensembl
Ensembl Acc Id: ENST00000409925   ⟹   ENSP00000387325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2157,321,739 - 157,325,659 (-)Ensembl
Ensembl Acc Id: ENST00000410096   ⟹   ENSP00000387047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2157,318,631 - 157,325,824 (-)Ensembl
Ensembl Acc Id: ENST00000411762   ⟹   ENSP00000389595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2157,321,669 - 157,327,309 (-)Ensembl
Ensembl Acc Id: ENST00000419116   ⟹   ENSP00000410934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2157,321,782 - 157,325,901 (-)Ensembl
Ensembl Acc Id: ENST00000420317   ⟹   ENSP00000398149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2157,321,645 - 157,327,248 (-)Ensembl
Ensembl Acc Id: ENST00000420719   ⟹   ENSP00000410646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2157,321,002 - 157,325,824 (-)Ensembl
RefSeq Acc Id: NM_001009959   ⟹   NP_001009959
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,318,631 - 157,327,712 (-)NCBI
GRCh372158,175,125 - 158,184,146 (-)RGD
Build 362157,883,371 - 157,892,392 (-)NCBI Archive
Celera2151,788,269 - 151,797,290 (-)RGD
HuRef2150,060,700 - 150,069,721 (-)RGD
CHM1_12158,181,143 - 158,190,243 (-)NCBI
T2T-CHM13v2.02157,771,771 - 157,780,852 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001304344   ⟹   NP_001291273
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,318,631 - 157,327,309 (-)NCBI
CHM1_12158,181,143 - 158,189,839 (-)NCBI
T2T-CHM13v2.02157,771,771 - 157,780,449 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001304345   ⟹   NP_001291274
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,318,631 - 157,327,309 (-)NCBI
CHM1_12158,181,143 - 158,189,839 (-)NCBI
T2T-CHM13v2.02157,771,771 - 157,780,449 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001304346   ⟹   NP_001291275
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,318,631 - 157,325,824 (-)NCBI
CHM1_12158,181,143 - 158,188,478 (-)NCBI
T2T-CHM13v2.02157,771,771 - 157,778,964 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020711   ⟹   NP_065762
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,318,631 - 157,325,824 (-)NCBI
GRCh372158,175,125 - 158,184,146 (-)RGD
Build 362157,883,371 - 157,890,662 (-)NCBI Archive
Celera2151,788,269 - 151,797,290 (-)RGD
HuRef2150,060,700 - 150,069,721 (-)RGD
CHM1_12158,181,143 - 158,188,478 (-)NCBI
T2T-CHM13v2.02157,771,771 - 157,778,964 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001009959   ⟸   NM_001009959
- Peptide Label: isoform a
- UniProtKB: Q8TAM6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_065762   ⟸   NM_020711
- Peptide Label: isoform b
- UniProtKB: B4DKA6 (UniProtKB/Swiss-Prot),   Q9ULN1 (UniProtKB/Swiss-Prot),   Q8TAM6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291273   ⟸   NM_001304344
- Peptide Label: isoform b
- UniProtKB: B4DKA6 (UniProtKB/Swiss-Prot),   Q9ULN1 (UniProtKB/Swiss-Prot),   Q8TAM6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291274   ⟸   NM_001304345
- Peptide Label: isoform b
- UniProtKB: B4DKA6 (UniProtKB/Swiss-Prot),   Q9ULN1 (UniProtKB/Swiss-Prot),   Q8TAM6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291275   ⟸   NM_001304346
- Peptide Label: isoform c
- UniProtKB: B4DIZ1 (UniProtKB/TrEMBL),   B4DHD9 (UniProtKB/TrEMBL),   E7ET69 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000387047   ⟸   ENST00000410096
Ensembl Acc Id: ENSP00000389595   ⟸   ENST00000411762
Ensembl Acc Id: ENSP00000410934   ⟸   ENST00000419116
Ensembl Acc Id: ENSP00000387325   ⟸   ENST00000409925
Ensembl Acc Id: ENSP00000410646   ⟸   ENST00000420719
Ensembl Acc Id: ENSP00000398149   ⟸   ENST00000420317
Ensembl Acc Id: ENSP00000387339   ⟸   ENST00000409395
Ensembl Acc Id: ENSP00000387049   ⟸   ENST00000409216
Ensembl Acc Id: ENSP00000380453   ⟸   ENST00000397283

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TAM6-F1-model_v2 AlphaFold Q8TAM6 1-284 view protein structure

Promoters
RGD ID:6861792
Promoter ID:EPDNEW_H4061
Type:initiation region
Name:ERMN_1
Description:ermin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,325,817 - 157,325,877EPDNEW
RGD ID:6797446
Promoter ID:HG_KWN:35505
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000332658,   OTTHUMT00000332660,   OTTHUMT00000332661
Position:
Human AssemblyChrPosition (strand)Source
Build 362157,892,184 - 157,892,684 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29208 AgrOrtholog
COSMIC ERMN COSMIC
Ensembl Genes ENSG00000136541 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000397283 ENTREZGENE
  ENST00000397283.6 UniProtKB/Swiss-Prot
  ENST00000409216.5 UniProtKB/TrEMBL
  ENST00000409395.3 UniProtKB/TrEMBL
  ENST00000409925.1 UniProtKB/TrEMBL
  ENST00000410096 ENTREZGENE
  ENST00000410096.6 UniProtKB/Swiss-Prot
  ENST00000411762.5 UniProtKB/TrEMBL
  ENST00000419116.2 UniProtKB/TrEMBL
  ENST00000420317.5 UniProtKB/TrEMBL
  ENST00000420719 ENTREZGENE
  ENST00000420719.6 UniProtKB/TrEMBL
Gene3D-CATH 6.10.360.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136541 GTEx
HGNC ID HGNC:29208 ENTREZGENE
Human Proteome Map ERMN Human Proteome Map
InterPro Ermin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Moesin_tail_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57471 UniProtKB/Swiss-Prot
NCBI Gene 57471 ENTREZGENE
OMIM 610072 OMIM
PANTHER ERMIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR47137 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ermin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162385355 PharmGKB
Superfamily-SCOP SSF48678 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DHD9 ENTREZGENE, UniProtKB/TrEMBL
  B4DIZ1 ENTREZGENE, UniProtKB/TrEMBL
  B4DKA6 ENTREZGENE
  B8ZZ94_HUMAN UniProtKB/TrEMBL
  C9J6B4_HUMAN UniProtKB/TrEMBL
  C9J8X3_HUMAN UniProtKB/TrEMBL
  C9JN04_HUMAN UniProtKB/TrEMBL
  E7ET69 ENTREZGENE
  ERMIN_HUMAN UniProtKB/Swiss-Prot
  F8WAQ2_HUMAN UniProtKB/TrEMBL
  L8E8L0_HUMAN UniProtKB/TrEMBL
  Q8TAM6 ENTREZGENE
  Q9ULN1 ENTREZGENE
UniProt Secondary B4DKA6 UniProtKB/Swiss-Prot
  E7ET69 UniProtKB/TrEMBL
  Q9ULN1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 ERMN  ermin    ermin, ERM-like protein  Symbol and/or name change 5135510 APPROVED