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
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. Localizes to EMC complex and extrinsic component of endoplasmic reticulum membrane; INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also 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 Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8108,443,601 - 108,489,196 (+)EnsemblGRCh38hg38GRCh38
GRCh388108,443,624 - 108,489,196 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378109,455,853 - 109,501,425 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368109,525,029 - 109,568,312 (+)NCBINCBI36hg18NCBI36
Build 348109,525,028 - 109,568,312NCBI
Celera8105,642,999 - 105,686,297 (+)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8104,777,276 - 104,820,161 (+)NCBIHuRef
CHM1_18109,496,105 - 109,539,394 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

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:31980649   PMID:32296183   PMID:32439656   PMID:32788342   PMID:32877691   PMID:33060197   PMID:33144569  


Genomics

Comparative Map Data
EMC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8108,443,601 - 108,489,196 (+)EnsemblGRCh38hg38GRCh38
GRCh388108,443,624 - 108,489,196 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378109,455,853 - 109,501,425 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368109,525,029 - 109,568,312 (+)NCBINCBI36hg18NCBI36
Build 348109,525,028 - 109,568,312NCBI
Celera8105,642,999 - 105,686,297 (+)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8104,777,276 - 104,820,161 (+)NCBIHuRef
CHM1_18109,496,105 - 109,539,394 (+)NCBICHM1_1
Emc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391543,340,603 - 43,391,174 (+)NCBIGRCm39mm39
GRCm39 Ensembl1543,340,625 - 43,391,159 (+)Ensembl
GRCm381543,477,229 - 43,527,777 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1543,477,229 - 43,527,763 (+)EnsemblGRCm38mm10GRCm38
MGSCv371543,308,775 - 43,359,323 (+)NCBIGRCm37mm9NCBIm37
MGSCv361543,307,303 - 43,357,851 (+)NCBImm8
Celera1543,953,653 - 43,997,401 (+)NCBICelera
Cytogenetic Map15B3.2NCBI
Emc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2774,587,196 - 74,624,163 (+)NCBI
Rnor_6.0 Ensembl782,338,663 - 82,377,109 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0782,338,639 - 82,377,389 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0782,349,425 - 82,385,901 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4779,265,488 - 79,300,317 (+)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.18107,243,288 - 107,292,469 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8107,243,311 - 107,292,469 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08105,095,815 - 105,144,333 (+)NCBIMhudiblu_PPA_v0panPan3
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 (+)NCBI
ROS_Cfam_1.0139,342,945 - 9,744,989 (+)NCBI
UMICH_Zoey_3.1139,085,878 - 9,487,856 (+)NCBI
UNSW_CanFamBas_1.0139,210,613 - 9,612,673 (+)NCBI
UU_Cfam_GSD_1.0139,291,379 - 9,693,503 (+)NCBI
Emc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530328,927,949 - 28,971,914 (-)NCBI
SpeTri2.0NW_00493647036,354,048 - 36,397,977 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EMC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl428,812,292 - 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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18103,159,689 - 103,209,374 (+)NCBI
ChlSab1.1 Ensembl8103,159,754 - 103,212,214 (+)Ensembl
Vero_WHO_p1.0NW_02366603937,371,382 - 37,421,395 (-)NCBI

Position Markers
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

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.


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 pharyngeal arch
High
Medium 2431 2310 1668 573 1363 414 4355 2094 3714 407 1443 1608 175 1 1203 2787 6 2
Low 8 679 58 51 586 51 2 103 20 12 17 5 1 1
Below cutoff 2 2

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
  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

Reference Sequences
RefSeq Acc Id: ENST00000220853   ⟹   ENSP00000220853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8108,443,624 - 108,489,196 (+)Ensembl
RefSeq Acc Id: ENST00000517593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8108,443,633 - 108,456,073 (+)Ensembl
RefSeq Acc Id: ENST00000517784
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8108,443,637 - 108,470,962 (+)Ensembl
RefSeq Acc Id: ENST00000519450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8108,473,851 - 108,486,918 (+)Ensembl
RefSeq Acc Id: ENST00000519642   ⟹   ENSP00000428040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8108,450,431 - 108,486,563 (+)Ensembl
RefSeq Acc Id: ENST00000520294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8108,464,047 - 108,486,636 (+)Ensembl
RefSeq Acc Id: ENST00000524143   ⟹   ENSP00000430122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
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
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
Sequence:
RefSeq Acc Id: NR_138033
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388108,443,624 - 108,489,196 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055488   ⟸   NM_014673
- Peptide Label: isoform 2
- UniProtKB: Q15006 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316424   ⟸   NM_001329495
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001316422   ⟸   NM_001329493
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001316423   ⟸   NM_001329494
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: ENSP00000428040   ⟸   ENST00000519642
RefSeq Acc Id: ENSP00000220853   ⟸   ENST00000220853
RefSeq Acc Id: ENSP00000430122   ⟸   ENST00000524143
Protein Domains
TPR_REGION

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

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

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 Protein ENSP00000220853 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428040 UniProtKB/TrEMBL
  ENSP00000430122 UniProtKB/TrEMBL
Ensembl Transcript ENST00000220853 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000519642 UniProtKB/TrEMBL
  ENST00000524143 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-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf 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 PTHR12760 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162407224 PharmGKB
PROSITE TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TPR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RGJ2_HUMAN UniProtKB/TrEMBL
  EMC2_HUMAN UniProtKB/Swiss-Prot
  H0YAS9_HUMAN UniProtKB/TrEMBL
  Q15006 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