MTERF3 (mitochondrial transcription termination factor 3) - Rat Genome Database

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Gene: MTERF3 (mitochondrial transcription termination factor 3) Homo sapiens
Analyze
Symbol: MTERF3
Name: mitochondrial transcription termination factor 3
RGD ID: 1603051
HGNC Page HGNC
Description: Exhibits transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription, DNA-templated. Localizes to cytosol and mitochondrion; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CGI-12; FLJ10939; MTERF domain containing 1; mTERF domain-containing protein 1, mitochondrial; MTERFD1; transcription termination factor 3, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl896,239,398 - 96,261,610 (-)EnsemblGRCh38hg38GRCh38
GRCh38896,239,398 - 96,261,613 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37897,251,626 - 97,273,841 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36897,320,821 - 97,342,972 (-)NCBINCBI36hg18NCBI36
Celera893,437,637 - 93,459,789 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef892,457,196 - 92,479,318 (-)NCBIHuRef
CHM1_1897,291,865 - 97,314,081 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10810093   PMID:12477932   PMID:14702039   PMID:15231747   PMID:15489334   PMID:16193327   PMID:17207965   PMID:17662942   PMID:18029348   PMID:20186120   PMID:20577816   PMID:20877624  
PMID:21145461   PMID:21832049   PMID:21873635   PMID:22939629   PMID:24023788   PMID:25416956   PMID:25515538   PMID:26186194   PMID:26496610   PMID:27499296   PMID:27609421   PMID:28431233  
PMID:28514442   PMID:28655764   PMID:29229926   PMID:29509190   PMID:29568061   PMID:29802200   PMID:30033366   PMID:31091453   PMID:31343991   PMID:31754344   PMID:32296183   PMID:32877691  


Genomics

Comparative Map Data
MTERF3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl896,239,398 - 96,261,610 (-)EnsemblGRCh38hg38GRCh38
GRCh38896,239,398 - 96,261,613 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37897,251,626 - 97,273,841 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36897,320,821 - 97,342,972 (-)NCBINCBI36hg18NCBI36
Celera893,437,637 - 93,459,789 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef892,457,196 - 92,479,318 (-)NCBIHuRef
CHM1_1897,291,865 - 97,314,081 (-)NCBICHM1_1
Mterf3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391367,053,520 - 67,081,148 (-)NCBIGRCm39mm39
GRCm39 Ensembl1367,055,032 - 67,081,152 (-)Ensembl
GRCm381366,906,577 - 66,933,083 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1366,906,968 - 66,933,088 (-)EnsemblGRCm38mm10GRCm38
MGSCv371367,013,031 - 67,034,008 (-)NCBIGRCm37mm9NCBIm37
MGSCv361367,347,875 - 67,368,816 (-)NCBImm8
Celera1370,371,705 - 70,392,691 (+)NCBICelera
Cytogenetic Map13B3NCBI
Mterf3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2763,826,418 - 63,844,747 (-)NCBI
Rnor_6.0 Ensembl771,273,275 - 71,293,823 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0771,275,544 - 71,293,842 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0771,447,410 - 71,465,707 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4767,969,806 - 67,988,047 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1767,990,538 - 68,008,777 (-)NCBI
Celera760,959,013 - 60,977,102 (-)NCBICelera
Cytogenetic Map7q22NCBI
Mterf3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541712,235,490 - 12,269,261 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541712,232,897 - 12,268,572 (-)NCBIChiLan1.0ChiLan1.0
MTERF3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1895,062,088 - 95,084,035 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl895,062,088 - 95,084,035 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0892,864,512 - 92,886,757 (-)NCBIMhudiblu_PPA_v0panPan3
MTERF3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12940,750,863 - 40,772,111 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2940,750,909 - 40,768,956 (-)NCBICanFam3.1canFam3CanFam3.1
ROS_Cfam_1.02940,942,583 - 40,963,883 (-)NCBI
UMICH_Zoey_3.12940,985,409 - 41,006,682 (-)NCBI
UNSW_CanFamBas_1.02940,954,494 - 40,975,700 (-)NCBI
UU_Cfam_GSD_1.02941,417,269 - 41,438,499 (-)NCBI
Mterf3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530338,849,499 - 38,870,372 (+)NCBI
SpeTri2.0NW_00493647046,275,587 - 46,296,456 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTERF3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl440,376,175 - 40,409,059 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1440,376,146 - 40,399,614 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2443,554,874 - 43,578,509 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MTERF3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1891,203,095 - 91,223,524 (-)NCBI
ChlSab1.1 Ensembl891,203,169 - 91,223,512 (-)Ensembl
Mterf3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247633,558,707 - 3,587,546 (-)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:307
Count of miRNA genes:233
Interacting mature miRNAs:239
Transcripts:ENST00000287025, ENST00000517720, ENST00000522822, ENST00000523821, ENST00000524341
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 2072 1905 1574 453 1129 344 3835 1917 2450 356 1403 1468 125 1 1159 2453 5
Low 367 1060 152 171 796 121 522 280 1284 63 57 145 50 45 335 1 2
Below cutoff 26 26

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000287025   ⟹   ENSP00000287025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,239,402 - 96,261,610 (-)Ensembl
RefSeq Acc Id: ENST00000517720   ⟹   ENSP00000429526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,258,488 - 96,261,588 (-)Ensembl
RefSeq Acc Id: ENST00000522822   ⟹   ENSP00000430138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,239,424 - 96,257,275 (-)Ensembl
RefSeq Acc Id: ENST00000523821   ⟹   ENSP00000429400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,239,398 - 96,261,610 (-)Ensembl
RefSeq Acc Id: ENST00000524341   ⟹   ENSP00000429267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,239,429 - 96,257,070 (-)Ensembl
RefSeq Acc Id: NM_001286643   ⟹   NP_001273572
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,239,398 - 96,261,613 (-)NCBI
HuRef892,457,177 - 92,479,363 (-)NCBI
CHM1_1897,291,865 - 97,314,081 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362964   ⟹   NP_001349893
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,239,398 - 96,261,613 (-)NCBI
RefSeq Acc Id: NM_015942   ⟹   NP_057026
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,239,402 - 96,261,610 (-)NCBI
GRCh37897,251,645 - 97,273,796 (-)NCBI
Build 36897,320,821 - 97,342,972 (-)NCBI Archive
Celera893,437,637 - 93,459,789 (-)RGD
HuRef892,457,177 - 92,479,363 (-)NCBI
CHM1_1897,291,865 - 97,314,081 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517054   ⟹   XP_011515356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,239,418 - 96,258,350 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057026   ⟸   NM_015942
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96E29 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273572   ⟸   NM_001286643
- Peptide Label: isoform 2 precursor
- UniProtKB: E5RIK9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515356   ⟸   XM_011517054
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001349893   ⟸   NM_001362964
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000429526   ⟸   ENST00000517720
RefSeq Acc Id: ENSP00000287025   ⟸   ENST00000287025
RefSeq Acc Id: ENSP00000430138   ⟸   ENST00000522822
RefSeq Acc Id: ENSP00000429400   ⟸   ENST00000523821
RefSeq Acc Id: ENSP00000429267   ⟸   ENST00000524341

Promoters
RGD ID:7213825
Promoter ID:EPDNEW_H12657
Type:initiation region
Name:MTERF3_1
Description:mitochondrial transcription termination factor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12659  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,261,601 - 96,261,661EPDNEW
RGD ID:7213827
Promoter ID:EPDNEW_H12659
Type:initiation region
Name:MTERF3_2
Description:mitochondrial transcription termination factor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12657  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,261,615 - 96,261,675EPDNEW
RGD ID:6806964
Promoter ID:HG_KWN:61755
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:ENST00000287025,   ENST00000337004,   UC003YHU.1,   UC010MBD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36897,342,301 - 97,344,067 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1 copy number loss See cases [RCV000054279] Chr8:96065893..97276981 [GRCh38]
Chr8:97078121..98289209 [GRCh37]
Chr8:97147297..98358385 [NCBI36]
Chr8:8q22.1
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 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 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 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 8q22.1(chr8:96468763-98522743)x1 copy number loss not provided [RCV000683017] Chr8:96468763..98522743 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1(chr8:97263025-97263325)x1 copy number loss not provided [RCV000747727] Chr8:97263025..97263325 [GRCh37]
Chr8:8q22.1
benign
GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3 copy number gain Leri pleonosteosis [RCV000856633] Chr8:97154645..98155535 [GRCh37]
Chr8:8q22.1
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
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 8q22.1(chr8:96646399-98973327)x3 copy number gain not provided [RCV001006122] Chr8:96646399..98973327 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3 copy number gain not provided [RCV001259019] Chr8:95803280..97802022 [GRCh37]
Chr8:8q22.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24258 AgrOrtholog
COSMIC MTERF3 COSMIC
Ensembl Genes ENSG00000156469 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000287025 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429267 UniProtKB/TrEMBL
  ENSP00000429400 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000429526 UniProtKB/TrEMBL
  ENSP00000430138 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000287025 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517720 UniProtKB/TrEMBL
  ENST00000522822 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523821 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000524341 UniProtKB/TrEMBL
Gene3D-CATH 1.25.70.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156469 GTEx
HGNC ID HGNC:24258 ENTREZGENE
Human Proteome Map MTERF3 Human Proteome Map
InterPro MTERF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MTERF_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51001 UniProtKB/Swiss-Prot
NCBI Gene 51001 ENTREZGENE
OMIM 616930 OMIM
Pfam mTERF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671309 PharmGKB
SMART Mterf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RI75_HUMAN UniProtKB/TrEMBL
  E5RIK9 ENTREZGENE, UniProtKB/TrEMBL
  E5RIY4_HUMAN UniProtKB/TrEMBL
  MTEF3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KMG6 UniProtKB/Swiss-Prot
  G3V130 UniProtKB/Swiss-Prot
  Q9Y301 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-07-01 MTERF3  mitochondrial transcription termination factor 3  MTERFD1  MTERF domain containing 1  Symbol and/or name change 5135510 APPROVED