EMC2 (ER membrane protein complex subunit 2) - Rat Genome Database

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Gene: EMC2 (ER membrane protein complex subunit 2) Homo sapiens
Analyze
Symbol: EMC2
Name: ER membrane protein complex subunit 2
RGD ID: 1321326
HGNC Page HGNC:28963
Description: Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Is extrinsic component of endoplasmic reticulum membrane. Part of EMC complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KIAA0103; tetratricopeptide repeat domain 35; tetratricopeptide repeat protein 35; TPR repeat protein 35; TTC35
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh388108,443,624 - 108,489,196 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8108,443,601 - 108,489,196 (+)EnsemblGRCh38hg38GRCh38
GRCh378109,455,853 - 109,501,425 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368109,525,029 - 109,568,312 (+)NCBINCBI36Build 36hg18NCBI36
Build 348109,525,028 - 109,568,312NCBI
Celera8105,642,999 - 105,686,297 (+)NCBICelera
Cytogenetic Map8q23.1NCBI
HuRef8104,777,276 - 104,820,161 (+)NCBIHuRef
CHM1_18109,496,105 - 109,539,394 (+)NCBICHM1_1
T2T-CHM13v2.08109,572,105 - 109,617,653 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. 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:7788527   PMID:8125298   PMID:10942595   PMID:11593002   PMID:14702039   PMID:15489334   PMID:16189514   PMID:17110338   PMID:17207965   PMID:20877624   PMID:21873635   PMID:22119785  
PMID:22268729   PMID:24711643   PMID:25064007   PMID:25416956   PMID:25921289   PMID:25959826   PMID:26186194   PMID:26190106   PMID:26496610   PMID:26598620   PMID:26638075   PMID:27342126  
PMID:27499296   PMID:28366632   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28692057   PMID:29128334   PMID:29242231   PMID:29395067   PMID:29509190   PMID:29568061   PMID:29809151  
PMID:30021884   PMID:30033366   PMID:30250044   PMID:30415835   PMID:30833792   PMID:30948266   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31266804   PMID:31536960   PMID:31732153  
PMID:31871319   PMID:31980649   PMID:32296183   PMID:32439656   PMID:32788342   PMID:32877691   PMID:33060197   PMID:33144569   PMID:33766124   PMID:33845483   PMID:33957083   PMID:33961781  
PMID:33964204   PMID:34079125   PMID:34226595   PMID:34349018   PMID:34373451   PMID:34432599   PMID:34597346   PMID:34709727   PMID:35235311   PMID:35271311   PMID:35384245   PMID:35575683  
PMID:35696571   PMID:35944360   PMID:36042349   PMID:36180527   PMID:36215168   PMID:36575184   PMID:36590901   PMID:36610398   PMID:37031316   PMID:37071682   PMID:37827155   PMID:37931956  
PMID:38113892   PMID:38334954   PMID:39147351  


Genomics

Comparative Map Data
EMC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388108,443,624 - 108,489,196 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8108,443,601 - 108,489,196 (+)EnsemblGRCh38hg38GRCh38
GRCh378109,455,853 - 109,501,425 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368109,525,029 - 109,568,312 (+)NCBINCBI36Build 36hg18NCBI36
Build 348109,525,028 - 109,568,312NCBI
Celera8105,642,999 - 105,686,297 (+)NCBICelera
Cytogenetic Map8q23.1NCBI
HuRef8104,777,276 - 104,820,161 (+)NCBIHuRef
CHM1_18109,496,105 - 109,539,394 (+)NCBICHM1_1
T2T-CHM13v2.08109,572,105 - 109,617,653 (+)NCBIT2T-CHM13v2.0
Emc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391543,340,603 - 43,391,174 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1543,340,625 - 43,391,159 (+)EnsemblGRCm39 Ensembl
GRCm381543,477,229 - 43,527,777 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1543,477,229 - 43,527,763 (+)EnsemblGRCm38mm10GRCm38
MGSCv371543,308,775 - 43,359,323 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361543,307,303 - 43,357,851 (+)NCBIMGSCv36mm8
Celera1543,953,653 - 43,997,401 (+)NCBICelera
Cytogenetic Map15B3.2NCBI
cM Map1516.75NCBI
Emc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8776,471,899 - 76,508,866 (+)NCBIGRCr8
mRatBN7.2774,587,196 - 74,624,163 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl774,587,175 - 74,625,189 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx776,430,651 - 76,467,739 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0778,633,156 - 78,670,238 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0778,501,148 - 78,538,291 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0782,338,639 - 82,377,389 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl782,338,663 - 82,377,109 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0782,349,425 - 82,385,901 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4779,265,488 - 79,300,317 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1779,286,206 - 79,323,421 (+)NCBI
Celera771,581,687 - 71,618,534 (+)NCBICelera
Cytogenetic Map7q31NCBI
Emc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541731,019,403 - 31,051,976 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541731,019,389 - 31,048,143 (+)NCBIChiLan1.0ChiLan1.0
EMC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27125,819,488 - 125,865,710 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18101,342,846 - 101,389,664 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08105,095,815 - 105,144,333 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18107,243,288 - 107,292,469 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8107,243,311 - 107,292,469 (+)Ensemblpanpan1.1panPan2
EMC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1139,069,782 - 9,224,255 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha139,047,943 - 9,448,642 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0139,342,945 - 9,744,989 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl139,342,930 - 9,388,166 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1139,085,878 - 9,487,856 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0139,210,613 - 9,612,673 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0139,291,379 - 9,693,503 (+)NCBIUU_Cfam_GSD_1.0
Emc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530328,927,949 - 28,971,914 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647036,350,969 - 36,398,008 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647036,354,048 - 36,397,977 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EMC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl429,017,517 - 29,079,270 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1428,981,118 - 29,079,270 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2431,452,650 - 31,473,612 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EMC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18103,159,689 - 103,209,374 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8103,159,754 - 103,212,214 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603937,371,382 - 37,421,395 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in EMC2
3 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 8q23.1-23.2(chr8:107356178-110913494)x3 copy number gain See cases [RCV000052185] Chr8:107356178..110913494 [GRCh38]
Chr8:108368406..111925723 [GRCh37]
Chr8:108437582..111994899 [NCBI36]
Chr8:8q23.1-23.2		 uncertain significance
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(chr8:244417-145054775)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
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 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 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1		 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 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 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 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely 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 8q23.1-23.2(chr8:109214531-110868812)x3 copy number gain See cases [RCV000446663] Chr8:109214531..110868812 [GRCh37]
Chr8:8q23.1-23.2		 uncertain significance
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12		 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(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q23.1(chr8:109027316-109787856)x3 copy number gain not provided [RCV000849255] Chr8:109027316..109787856 [GRCh37]
Chr8:8q23.1		 uncertain significance
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 8q22.3-23.3(chr8:104437051-114170843)x1 copy number loss not provided [RCV000847013] Chr8:104437051..114170843 [GRCh37]
Chr8:8q22.3-23.3		 uncertain significance
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13		 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 8q23.1-24.12(chr8:107032887-120742018) copy number loss not specified [RCV002053793] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12		 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
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
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
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_014673.5(EMC2):c.602C>G (p.Thr201Ser) single nucleotide variant not specified [RCV004339662] Chr8:108476792 [GRCh38]
Chr8:109489021 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_014673.5(EMC2):c.622C>G (p.Leu208Val) single nucleotide variant not specified [RCV004340181] Chr8:108476812 [GRCh38]
Chr8:109489041 [GRCh37]
Chr8:8q23.1		 uncertain significance
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_014673.5(EMC2):c.400C>G (p.Gln134Glu) single nucleotide variant not specified [RCV004382442] Chr8:108469862 [GRCh38]
Chr8:109482091 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_014673.5(EMC2):c.500A>G (p.Asn167Ser) single nucleotide variant not specified [RCV004624863] Chr8:108470112 [GRCh38]
Chr8:109482341 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_014673.5(EMC2):c.328T>C (p.Tyr110His) single nucleotide variant not specified [RCV004624864] Chr8:108455895 [GRCh38]
Chr8:109468124 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_014673.5(EMC2):c.361A>C (p.Thr121Pro) single nucleotide variant not specified [RCV004624865] Chr8:108455928 [GRCh38]
Chr8:109468157 [GRCh37]
Chr8:8q23.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:564
Count of miRNA genes:411
Interacting mature miRNAs:435
Transcripts:ENST00000220853, ENST00000517593, ENST00000517784, ENST00000519450, ENST00000519642, ENST00000520294, ENST00000524143
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
407343714GWAS992690_Hschizophrenia QTL GWAS992690 (human)0.000003schizophrenia8108447103108447104Human
407235635GWAS884611_Hbone density QTL GWAS884611 (human)1e-51bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)8108466268108466269Human
407253568GWAS902544_HX-12063 measurement QTL GWAS902544 (human)3e-08X-12063 measurement8108471735108471736Human
407086797GWAS735773_Handrogenetic alopecia QTL GWAS735773 (human)2e-22androgenetic alopecia8108483382108483383Human
407121403GWAS770379_Hhair colour measurement QTL GWAS770379 (human)3e-18hair colour measurementcoat/hair color measurement (CMO:0001808)8108483382108483383Human

Markers in Region
RH66201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378109,499,381 - 109,499,589UniSTSGRCh37
Build 368109,568,557 - 109,568,765RGDNCBI36
Celera8105,686,542 - 105,686,750RGD
Cytogenetic Map8q23.1UniSTS
HuRef8104,820,406 - 104,820,614UniSTS
GeneMap99-GB4 RH Map8446.42UniSTS
NCBI RH Map81000.4UniSTS
RH25330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378109,498,847 - 109,499,030UniSTSGRCh37
Build 368109,568,023 - 109,568,206RGDNCBI36
Celera8105,686,008 - 105,686,191RGD
Cytogenetic Map8q23.1UniSTS
HuRef8104,819,872 - 104,820,055UniSTS
GeneMap99-GB4 RH Map8445.61UniSTS
D8S1911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378109,498,862 - 109,499,022UniSTSGRCh37
Build 368109,568,038 - 109,568,198RGDNCBI36
Celera8105,686,023 - 105,686,183RGD
Cytogenetic Map8q23.1UniSTS
HuRef8104,819,887 - 104,820,047UniSTS
A009G21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37818,658,699 - 18,659,236UniSTSGRCh37
GRCh378109,468,344 - 109,468,458UniSTSGRCh37
Build 368109,537,520 - 109,537,634RGDNCBI36
Celera8105,655,488 - 105,655,602RGD
Celera817,623,252 - 17,623,789UniSTS
HuRef817,200,225 - 17,200,762UniSTS
HuRef8104,789,769 - 104,789,883UniSTS
HuRef2221,375,257 - 21,375,781UniSTS
GeneMap99-GB4 RH Map8445.61UniSTS
G32529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378109,468,344 - 109,468,458UniSTSGRCh37
Celera8105,655,488 - 105,655,602UniSTS
Cytogenetic Map8q23.1UniSTS
HuRef8104,789,769 - 104,789,883UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001329493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_138033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC022634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021667 (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
  CR457402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D14659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY050785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000220853   ⟹   ENSP00000220853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,443,624 - 108,489,196 (+)Ensembl
Ensembl Acc Id: ENST00000517593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,443,633 - 108,456,073 (+)Ensembl
Ensembl Acc Id: ENST00000517784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,443,637 - 108,470,962 (+)Ensembl
Ensembl Acc Id: ENST00000519450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,473,851 - 108,486,918 (+)Ensembl
Ensembl Acc Id: ENST00000519642   ⟹   ENSP00000428040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,450,431 - 108,486,563 (+)Ensembl
Ensembl Acc Id: ENST00000520294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,464,047 - 108,486,636 (+)Ensembl
Ensembl Acc Id: ENST00000524143   ⟹   ENSP00000430122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8108,443,601 - 108,455,902 (+)Ensembl
RefSeq Acc Id: NM_001329493   ⟹   NP_001316422
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388108,443,624 - 108,489,196 (+)NCBI
T2T-CHM13v2.08109,572,105 - 109,617,653 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329494   ⟹   NP_001316423
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388108,443,624 - 108,471,163 (+)NCBI
T2T-CHM13v2.08109,572,105 - 109,599,629 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329495   ⟹   NP_001316424
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388108,443,624 - 108,489,196 (+)NCBI
T2T-CHM13v2.08109,572,105 - 109,617,653 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014673   ⟹   NP_055488
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388108,443,624 - 108,489,196 (+)NCBI
GRCh378109,455,853 - 109,499,136 (+)RGD
Build 368109,525,029 - 109,568,312 (+)NCBI Archive
Celera8105,642,999 - 105,686,297 (+)RGD
HuRef8104,777,276 - 104,820,161 (+)RGD
CHM1_18109,496,105 - 109,539,394 (+)NCBI
T2T-CHM13v2.08109,572,105 - 109,617,653 (+)NCBI
Sequence:
RefSeq Acc Id: NR_138033
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388108,443,624 - 108,489,196 (+)NCBI
T2T-CHM13v2.08109,572,105 - 109,617,653 (+)NCBI
Sequence:
RefSeq Acc Id: NP_055488   ⟸   NM_014673
- Peptide Label: isoform 2
- UniProtKB: Q8WUE1 (UniProtKB/Swiss-Prot),   Q15006 (UniProtKB/Swiss-Prot),   A8K4K9 (UniProtKB/TrEMBL),   Q53HG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316424   ⟸   NM_001329495
- Peptide Label: isoform 4
- UniProtKB: A8K4K9 (UniProtKB/TrEMBL),   Q53HG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316422   ⟸   NM_001329493
- Peptide Label: isoform 1
- UniProtKB: A8K4K9 (UniProtKB/TrEMBL),   Q53HG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316423   ⟸   NM_001329494
- Peptide Label: isoform 3
- Sequence:
Ensembl Acc Id: ENSP00000428040   ⟸   ENST00000519642
Ensembl Acc Id: ENSP00000220853   ⟸   ENST00000220853
Ensembl Acc Id: ENSP00000430122   ⟸   ENST00000524143

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15006-F1-model_v2 AlphaFold Q15006 1-297 view protein structure

Promoters
RGD ID:7213987
Promoter ID:EPDNEW_H12739
Type:initiation region
Name:EMC2_1
Description:ER membrane protein complex subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388108,443,637 - 108,443,697EPDNEW
RGD ID:6807098
Promoter ID:HG_KWN:61917
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:NM_014673
Position:
Human AssemblyChrPosition (strand)Source
Build 368109,524,834 - 109,525,334 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28963 AgrOrtholog
COSMIC EMC2 COSMIC
Ensembl Genes ENSG00000104412 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000220853 ENTREZGENE
  ENST00000220853.8 UniProtKB/Swiss-Prot
  ENST00000519642.1 UniProtKB/TrEMBL
  ENST00000524143.5 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104412 GTEx
HGNC ID HGNC:28963 ENTREZGENE
Human Proteome Map EMC2 Human Proteome Map
InterPro EMC2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_EMC2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9694 UniProtKB/Swiss-Prot
NCBI Gene 9694 ENTREZGENE
OMIM 607722 OMIM
PANTHER ER MEMBRANE PROTEIN COMPLEX SUBUNIT 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12760 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TPR_EMC2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162407224 PharmGKB
PROSITE TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot
SMART TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K4K9 ENTREZGENE, UniProtKB/TrEMBL
  E5RGJ2_HUMAN UniProtKB/TrEMBL
  EMC2_HUMAN UniProtKB/Swiss-Prot
  H0YAS9_HUMAN UniProtKB/TrEMBL
  Q15006 ENTREZGENE
  Q53HG5 ENTREZGENE, UniProtKB/TrEMBL
  Q8WUE1 ENTREZGENE
UniProt Secondary Q8WUE1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-05-29 EMC2  ER membrane protein complex subunit 2  TTC35  tetratricopeptide repeat domain 35  Symbol and/or name change 5135510 APPROVED