TMED7 (transmembrane p24 trafficking protein 7) - Rat Genome Database

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Gene: TMED7 (transmembrane p24 trafficking protein 7) Homo sapiens
Analyze
Symbol: TMED7
Name: transmembrane p24 trafficking protein 7
RGD ID: 1342694
HGNC Page HGNC:24253
Description: Predicted to be involved in Golgi organization; endoplasmic reticulum to Golgi vesicle-mediated transport; and intracellular protein transport. Located in Golgi apparatus; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CGI-109; FLJ57776; FLJ90481; p24 family protein gamma-3; p24g3; p24gamma3; p27; Tag; transmembrane emp24 domain-containing protein 7; transmembrane emp24 protein transport domain containing 7
RGD Orthologs
Mouse
Rat
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
GRCh385115,613,210 - 115,626,036 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5115,613,210 - 115,632,992 (-)EnsemblGRCh38hg38GRCh38
GRCh375114,948,907 - 114,961,733 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365114,977,102 - 114,989,595 (-)NCBINCBI36Build 36hg18NCBI36
Build 345114,977,101 - 114,989,595NCBI
Celera5110,898,179 - 110,911,150 (-)NCBICelera
Cytogenetic Map5q22.3NCBI
HuRef5110,130,510 - 110,143,485 (-)NCBIHuRef
CHM1_15114,381,532 - 114,394,506 (-)NCBICHM1_1
T2T-CHM13v2.05116,125,992 - 116,138,818 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
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:9490301   PMID:10359607   PMID:10810093   PMID:12237308   PMID:14702039   PMID:15489334   PMID:16303743   PMID:16344560   PMID:17207965   PMID:19322201   PMID:21048031   PMID:21873635  
PMID:21988832   PMID:22426228   PMID:23376485   PMID:25074978   PMID:26186194   PMID:26496610   PMID:26972000   PMID:28514442   PMID:29117863   PMID:29507755   PMID:29509190   PMID:29599191  
PMID:30575818   PMID:31527615   PMID:31536960   PMID:32707033   PMID:33022573   PMID:33545068   PMID:33845483   PMID:33961781   PMID:34709727   PMID:35271311   PMID:35696571   PMID:35906200  
PMID:36042349   PMID:36215168   PMID:36610398   PMID:37827155  


Genomics

Comparative Map Data
TMED7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385115,613,210 - 115,626,036 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5115,613,210 - 115,632,992 (-)EnsemblGRCh38hg38GRCh38
GRCh375114,948,907 - 114,961,733 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365114,977,102 - 114,989,595 (-)NCBINCBI36Build 36hg18NCBI36
Build 345114,977,101 - 114,989,595NCBI
Celera5110,898,179 - 110,911,150 (-)NCBICelera
Cytogenetic Map5q22.3NCBI
HuRef5110,130,510 - 110,143,485 (-)NCBIHuRef
CHM1_15114,381,532 - 114,394,506 (-)NCBICHM1_1
T2T-CHM13v2.05116,125,992 - 116,138,818 (-)NCBIT2T-CHM13v2.0
Tmed7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391846,718,995 - 46,730,602 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1846,693,302 - 46,730,602 (-)EnsemblGRCm39 Ensembl
GRCm381846,585,928 - 46,597,535 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1846,560,235 - 46,597,535 (-)EnsemblGRCm38mm10GRCm38
MGSCv371846,745,582 - 46,757,189 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361846,710,988 - 46,722,852 (-)NCBIMGSCv36mm8
Celera1847,945,556 - 47,957,160 (-)NCBICelera
Cytogenetic Map18CNCBI
cM Map1824.65NCBI
Tmed7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81841,505,167 - 41,512,243 (-)NCBIGRCr8
mRatBN7.21839,318,564 - 39,325,640 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1839,297,351 - 39,325,640 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1841,351,781 - 41,358,857 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01842,054,024 - 42,061,100 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01839,847,145 - 39,854,221 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01840,579,182 - 40,586,260 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1840,579,182 - 40,586,260 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01840,233,821 - 40,240,942 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41840,800,887 - 40,808,002 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11840,838,427 - 40,838,519 (+)NCBI
Celera1837,570,612 - 37,577,688 (-)NCBICelera
Cytogenetic Map18q11NCBI
TMED7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24110,860,757 - 110,874,641 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15109,014,418 - 109,028,202 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05110,970,162 - 110,983,414 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15116,766,470 - 116,779,513 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5116,766,470 - 116,779,513 (-)Ensemblpanpan1.1panPan2
TMED7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1115,342,265 - 5,356,828 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl115,342,265 - 5,356,828 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha115,492,917 - 5,507,480 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0115,334,331 - 5,348,924 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl115,334,331 - 5,349,013 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1115,289,646 - 5,304,207 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0115,358,822 - 5,373,386 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0115,612,704 - 5,627,313 (-)NCBIUU_Cfam_GSD_1.0
Tmed7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213128,079,197 - 128,090,975 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936742745,336 - 791,883 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936742779,964 - 791,738 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMED7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2119,788,483 - 119,804,463 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12119,794,608 - 119,804,406 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22124,682,078 - 124,691,898 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TMED7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12318,864,021 - 18,875,089 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2318,866,758 - 18,874,975 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603459,522,754 - 59,534,106 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in TMED7
84 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q22.3(chr5:114504911-115696544)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053647]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053647]|See cases [RCV000053647] Chr5:114504911..115696544 [GRCh38]
Chr5:113840608..115032241 [GRCh37]
Chr5:113868507..115060140 [NCBI36]
Chr5:5q22.3		 benign
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
NM_181836.5(TMED7):c.486C>T (p.Ile162=) single nucleotide variant Malignant melanoma [RCV000066604] Chr5:115616398 [GRCh38]
Chr5:114952095 [GRCh37]
Chr5:114979994 [NCBI36]
Chr5:5q22.3		 not provided
GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1 copy number loss See cases [RCV000133813] Chr5:108585264..116815075 [GRCh38]
Chr5:107920965..116150771 [GRCh37]
Chr5:107948864..116178670 [NCBI36]
Chr5:5q21.3-23.1		 pathogenic
GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1 copy number loss See cases [RCV000134895] Chr5:114707561..126507744 [GRCh38]
Chr5:114043258..125843436 [GRCh37]
Chr5:114071157..125871335 [NCBI36]
Chr5:5q22.3-23.2		 pathogenic
GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1 copy number loss See cases [RCV000135699] Chr5:107002209..118025316 [GRCh38]
Chr5:106337910..117361011 [GRCh37]
Chr5:106365809..117388910 [NCBI36]
Chr5:5q21.3-23.1		 pathogenic
GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1 copy number loss See cases [RCV000135549] Chr5:111463016..127193038 [GRCh38]
Chr5:110798714..126528730 [GRCh37]
Chr5:110826613..126556629 [NCBI36]
Chr5:5q22.1-23.2		 pathogenic
GRCh38/hg38 5q22.3-23.1(chr5:115387674-115916830)x1 copy number loss See cases [RCV000137739] Chr5:115387674..115916830 [GRCh38]
Chr5:114723371..115252527 [GRCh37]
Chr5:114751270..115280426 [NCBI36]
Chr5:5q22.3-23.1		 uncertain significance
GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1 copy number loss See cases [RCV000139235] Chr5:110687442..130103838 [GRCh38]
Chr5:110023143..129439531 [GRCh37]
Chr5:110051042..129467430 [NCBI36]
Chr5:5q22.1-23.3		 pathogenic|uncertain significance
GRCh38/hg38 5q22.3(chr5:115320895-115754204)x1 copy number loss See cases [RCV000138950] Chr5:115320895..115754204 [GRCh38]
Chr5:114656592..115089901 [GRCh37]
Chr5:114684491..115117800 [NCBI36]
Chr5:5q22.3		 uncertain significance
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3		 pathogenic
GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1 copy number loss See cases [RCV000141252] Chr5:92899734..119614119 [GRCh38]
Chr5:92235441..118949814 [GRCh37]
Chr5:92261197..118977713 [NCBI36]
Chr5:5q14.3-23.1		 pathogenic
GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1 copy number loss See cases [RCV000140791] Chr5:112323517..117773507 [GRCh38]
Chr5:111659214..117109202 [GRCh37]
Chr5:111687113..117137101 [NCBI36]
Chr5:5q22.2-23.1		 pathogenic
GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1 copy number loss See cases [RCV000143326] Chr5:108308463..125777797 [GRCh38]
Chr5:107644164..125113490 [GRCh37]
Chr5:107672063..125141389 [NCBI36]
Chr5:5q21.3-23.2		 pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1		 pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1 copy number loss See cases [RCV000446959] Chr5:110407606..122522885 [GRCh37]
Chr5:5q22.1-23.2		 pathogenic
GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)x1 copy number loss See cases [RCV000445968] Chr5:100607918..125900735 [GRCh37]
Chr5:5q21.1-23.2		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
Single allele duplication Autism [RCV000754292] Chr5:114046360..118610426 [GRCh38]
Chr5:5q22.3-23.1		 likely pathogenic
GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1 copy number loss not provided [RCV000846246] Chr5:108304806..121335239 [GRCh37]
Chr5:5q21.3-23.1		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3		 pathogenic
NM_181836.6(TMED7):c.52G>T (p.Gly18Trp) single nucleotide variant not provided [RCV003110325] Chr5:115625741 [GRCh38]
Chr5:114961438 [GRCh37]
Chr5:5q22.3		 uncertain significance
GRCh37/hg19 5q15-22.3(chr5:93650000-114969108) copy number loss not specified [RCV002053511] Chr5:93650000..114969108 [GRCh37]
Chr5:5q15-22.3		 pathogenic
GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735) copy number loss not specified [RCV002053515] Chr5:100607918..125900735 [GRCh37]
Chr5:5q21.1-23.2		 pathogenic
NM_181836.6(TMED7):c.51G>T (p.Trp17Cys) single nucleotide variant not provided [RCV002022622] Chr5:115625742 [GRCh38]
Chr5:114961439 [GRCh37]
Chr5:5q22.3		 uncertain significance
GRCh37/hg19 5q22.1-23.1(chr5:111443783-116255660) copy number loss not specified [RCV002053518] Chr5:111443783..116255660 [GRCh37]
Chr5:5q22.1-23.1		 pathogenic
NM_181836.6(TMED7):c.28T>C (p.Trp10Arg) single nucleotide variant not provided [RCV001943542] Chr5:115625765 [GRCh38]
Chr5:114961462 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.337G>A (p.Glu113Lys) single nucleotide variant not provided [RCV001897799] Chr5:115620536 [GRCh38]
Chr5:114956233 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.655A>G (p.Thr219Ala) single nucleotide variant not provided [RCV001998872] Chr5:115616229 [GRCh38]
Chr5:114951926 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.570A>T (p.Ser190=) single nucleotide variant not provided [RCV002169303] Chr5:115616314 [GRCh38]
Chr5:114952011 [GRCh37]
Chr5:5q22.3		 benign
NM_181836.6(TMED7):c.94G>T (p.Gly32Cys) single nucleotide variant not provided [RCV002115949] Chr5:115625699 [GRCh38]
Chr5:114961396 [GRCh37]
Chr5:5q22.3		 benign
NM_181836.6(TMED7):c.438+20A>G single nucleotide variant not provided [RCV002113607] Chr5:115620415 [GRCh38]
Chr5:114956112 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.439-20C>T single nucleotide variant not provided [RCV002152517] Chr5:115616465 [GRCh38]
Chr5:114952162 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.15G>T (p.Gly5=) single nucleotide variant not provided [RCV002145057] Chr5:115625778 [GRCh38]
Chr5:114961475 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.42G>A (p.Ala14=) single nucleotide variant not provided [RCV002074823] Chr5:115625751 [GRCh38]
Chr5:114961448 [GRCh37]
Chr5:5q22.3		 benign
NM_181836.6(TMED7):c.622T>C (p.Leu208=) single nucleotide variant not provided [RCV002198410] Chr5:115616262 [GRCh38]
Chr5:114951959 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.222T>C (p.Asp74=) single nucleotide variant not provided [RCV002201053] Chr5:115620651 [GRCh38]
Chr5:114956348 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.78A>G (p.Leu26=) single nucleotide variant not provided [RCV002164017] Chr5:115625715 [GRCh38]
Chr5:114961412 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.348T>A (p.Thr116=) single nucleotide variant not provided [RCV002217910] Chr5:115620525 [GRCh38]
Chr5:114956222 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.315A>G (p.Thr105=) single nucleotide variant not provided [RCV002220782] Chr5:115620558 [GRCh38]
Chr5:114956255 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.93C>T (p.Pro31=) single nucleotide variant not provided [RCV002177598] Chr5:115625700 [GRCh38]
Chr5:114961397 [GRCh37]
Chr5:5q22.3		 likely benign
NC_000005.9:g.(?_114951906)_(114961489_?)dup duplication not provided [RCV003113911] Chr5:114951906..114961489 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.572T>C (p.Val191Ala) single nucleotide variant not provided [RCV002771458] Chr5:115616312 [GRCh38]
Chr5:114952009 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.305A>G (p.Lys102Arg) single nucleotide variant not provided [RCV002839033] Chr5:115620568 [GRCh38]
Chr5:114956265 [GRCh37]
Chr5:5q22.3		 uncertain significance
GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1 copy number loss not provided [RCV002475732] Chr5:112557391..128106299 [GRCh37]
Chr5:5q22.2-23.3		 pathogenic
NM_181836.6(TMED7):c.436C>A (p.Gln146Lys) single nucleotide variant not provided [RCV002819849] Chr5:115620437 [GRCh38]
Chr5:114956134 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.61C>T (p.Leu21=) single nucleotide variant not provided [RCV002618933] Chr5:115625732 [GRCh38]
Chr5:114961429 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.438+7A>T single nucleotide variant not provided [RCV002613787] Chr5:115620428 [GRCh38]
Chr5:114956125 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.388G>C (p.Glu130Gln) single nucleotide variant not provided [RCV002881588] Chr5:115620485 [GRCh38]
Chr5:114956182 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.439-11T>C single nucleotide variant not provided [RCV002731386] Chr5:115616456 [GRCh38]
Chr5:114952153 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.527G>A (p.Arg176Gln) single nucleotide variant not provided [RCV002839428] Chr5:115616357 [GRCh38]
Chr5:114952054 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.46C>T (p.Arg16Cys) single nucleotide variant not provided [RCV003034900] Chr5:115625747 [GRCh38]
Chr5:114961444 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.396A>G (p.Pro132=) single nucleotide variant not provided [RCV002755922] Chr5:115620477 [GRCh38]
Chr5:114956174 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.51G>C (p.Trp17Cys) single nucleotide variant not provided [RCV002591442] Chr5:115625742 [GRCh38]
Chr5:114961439 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.438+13dup duplication not provided [RCV002590390] Chr5:115620421..115620422 [GRCh38]
Chr5:114956118..114956119 [GRCh37]
Chr5:5q22.3		 benign
NM_181836.6(TMED7):c.309T>C (p.Asn103=) single nucleotide variant not provided [RCV003019826] Chr5:115620564 [GRCh38]
Chr5:114956261 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.299C>T (p.Ala100Val) single nucleotide variant not provided [RCV002846952] Chr5:115620574 [GRCh38]
Chr5:114956271 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.492T>C (p.Tyr164=) single nucleotide variant not provided [RCV003055099] Chr5:115616392 [GRCh38]
Chr5:114952089 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.5C>G (p.Pro2Arg) single nucleotide variant not provided [RCV002705231] Chr5:115625788 [GRCh38]
Chr5:114961485 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.85C>T (p.Pro29Ser) single nucleotide variant not provided [RCV003019161] Chr5:115625708 [GRCh38]
Chr5:114961405 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.155A>T (p.Asp52Val) single nucleotide variant not provided [RCV002622274] Chr5:115625638 [GRCh38]
Chr5:114961335 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.612G>A (p.Gln204=) single nucleotide variant not provided [RCV002954165] Chr5:115616272 [GRCh38]
Chr5:114951969 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.270G>A (p.Lys90=) single nucleotide variant not provided [RCV002766863] Chr5:115620603 [GRCh38]
Chr5:114956300 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.192+8G>T single nucleotide variant not provided [RCV002626489] Chr5:115625593 [GRCh38]
Chr5:114961290 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.307A>C (p.Asn103His) single nucleotide variant not provided [RCV003025294] Chr5:115620566 [GRCh38]
Chr5:114956263 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.439-14A>G single nucleotide variant not provided [RCV002596589] Chr5:115616459 [GRCh38]
Chr5:114952156 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.245G>A (p.Gly82Asp) single nucleotide variant not provided [RCV002574914] Chr5:115620628 [GRCh38]
Chr5:114956325 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.79C>T (p.Leu27=) single nucleotide variant not provided [RCV002919170] Chr5:115625714 [GRCh38]
Chr5:114961411 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.108G>A (p.Glu36=) single nucleotide variant not provided [RCV002623318] Chr5:115625685 [GRCh38]
Chr5:114961382 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.84G>A (p.Val28=) single nucleotide variant not provided [RCV002954166] Chr5:115625709 [GRCh38]
Chr5:114961406 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.70C>T (p.Leu24=) single nucleotide variant not provided [RCV002917252] Chr5:115625723 [GRCh38]
Chr5:114961420 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.542A>T (p.Asp181Val) single nucleotide variant not provided [RCV002596108] Chr5:115616342 [GRCh38]
Chr5:114952039 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.100G>T (p.Ala34Ser) single nucleotide variant not provided [RCV002666626] Chr5:115625693 [GRCh38]
Chr5:114961390 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.227G>A (p.Arg76Gln) single nucleotide variant not provided [RCV002958318] Chr5:115620646 [GRCh38]
Chr5:114956343 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.54G>T (p.Gly18=) single nucleotide variant not provided [RCV002741510] Chr5:115625739 [GRCh38]
Chr5:114961436 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.12G>C (p.Pro4=) single nucleotide variant not provided [RCV002663740] Chr5:115625781 [GRCh38]
Chr5:114961478 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.105T>A (p.Ser35=) single nucleotide variant not provided [RCV002851660] Chr5:115625688 [GRCh38]
Chr5:114961385 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.439-17A>G single nucleotide variant not provided [RCV003041600] Chr5:115616462 [GRCh38]
Chr5:114952159 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.11C>T (p.Pro4Leu) single nucleotide variant not provided [RCV002800658] Chr5:115625782 [GRCh38]
Chr5:114961479 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.672A>T (p.Ser224=) single nucleotide variant not provided [RCV002631259] Chr5:115616212 [GRCh38]
Chr5:114951909 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.193G>A (p.Val65Met) single nucleotide variant not provided [RCV002962574] Chr5:115620680 [GRCh38]
Chr5:114956377 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.219A>G (p.Val73=) single nucleotide variant not provided [RCV003045004] Chr5:115620654 [GRCh38]
Chr5:114956351 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.81G>A (p.Leu27=) single nucleotide variant not provided [RCV002922414] Chr5:115625712 [GRCh38]
Chr5:114961409 [GRCh37]
Chr5:5q22.3		 likely benign|uncertain significance
NM_181836.6(TMED7):c.438+18C>T single nucleotide variant not provided [RCV002716137] Chr5:115620417 [GRCh38]
Chr5:114956114 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.497C>A (p.Thr166Asn) single nucleotide variant not provided [RCV002856169] Chr5:115616387 [GRCh38]
Chr5:114952084 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.660_661delinsAT (p.Arg221Cys) indel not provided [RCV002720915] Chr5:115616223..115616224 [GRCh38]
Chr5:114951920..114951921 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.144C>T (p.Cys48=) single nucleotide variant not provided [RCV003045238] Chr5:115625649 [GRCh38]
Chr5:114961346 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.91C>G (p.Pro31Ala) single nucleotide variant not provided [RCV002583793] Chr5:115625702 [GRCh38]
Chr5:114961399 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.193-5del deletion not provided [RCV002943354] Chr5:115620685 [GRCh38]
Chr5:114956382 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.15G>A (p.Gly5=) single nucleotide variant not provided [RCV002635530] Chr5:115625778 [GRCh38]
Chr5:114961475 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.397C>T (p.Pro133Ser) single nucleotide variant not provided [RCV002605558] Chr5:115620476 [GRCh38]
Chr5:114956173 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.389A>G (p.Glu130Gly) single nucleotide variant not provided [RCV002607352] Chr5:115620484 [GRCh38]
Chr5:114956181 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.250G>C (p.Val84Leu) single nucleotide variant not provided [RCV002635354] Chr5:115620623 [GRCh38]
Chr5:114956320 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.23A>G (p.Gln8Arg) single nucleotide variant not provided [RCV002609930] Chr5:115625770 [GRCh38]
Chr5:114961467 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.419G>A (p.Arg140Gln) single nucleotide variant not provided [RCV002587050] Chr5:115620454 [GRCh38]
Chr5:114956151 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.438+12_438+13dup duplication not provided [RCV002587207] Chr5:115620421..115620422 [GRCh38]
Chr5:114956118..114956119 [GRCh37]
Chr5:5q22.3		 benign
NM_181836.6(TMED7):c.47G>A (p.Arg16His) single nucleotide variant not provided [RCV002603433] Chr5:115625746 [GRCh38]
Chr5:114961443 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.20C>T (p.Ala7Val) single nucleotide variant not provided [RCV002609518] Chr5:115625773 [GRCh38]
Chr5:114961470 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.192+6_192+7del deletion not provided [RCV002589199] Chr5:115625594..115625595 [GRCh38]
Chr5:114961291..114961292 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.285T>C (p.Ser95=) single nucleotide variant not provided [RCV002609945] Chr5:115620588 [GRCh38]
Chr5:114956285 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.29G>C (p.Trp10Ser) single nucleotide variant not provided [RCV003674798] Chr5:115625764 [GRCh38]
Chr5:114961461 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.31G>A (p.Ala11Thr) single nucleotide variant not provided [RCV003666223] Chr5:115625762 [GRCh38]
Chr5:114961459 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.448G>C (p.Ala150Pro) single nucleotide variant not provided [RCV003717042] Chr5:115616436 [GRCh38]
Chr5:114952133 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.97G>A (p.Gly33Ser) single nucleotide variant not provided [RCV003689176] Chr5:115625696 [GRCh38]
Chr5:114961393 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.42G>C (p.Ala14=) single nucleotide variant not provided [RCV003671574] Chr5:115625751 [GRCh38]
Chr5:114961448 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.221A>G (p.Asp74Gly) single nucleotide variant not provided [RCV003721367] Chr5:115620652 [GRCh38]
Chr5:114956349 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.154G>A (p.Asp52Asn) single nucleotide variant not provided [RCV003721883] Chr5:115625639 [GRCh38]
Chr5:114961336 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.552A>C (p.Thr184=) single nucleotide variant not provided [RCV003702874] Chr5:115616332 [GRCh38]
Chr5:114952029 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.324T>G (p.Phe108Leu) single nucleotide variant not provided [RCV003827660] Chr5:115620549 [GRCh38]
Chr5:114956246 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.375T>C (p.Asp125=) single nucleotide variant not provided [RCV003572770] Chr5:115620498 [GRCh38]
Chr5:114956195 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.603C>T (p.Ser201=) single nucleotide variant not provided [RCV003714739] Chr5:115616281 [GRCh38]
Chr5:114951978 [GRCh37]
Chr5:5q22.3		 likely benign
NM_181836.6(TMED7):c.37G>T (p.Val13Phe) single nucleotide variant not provided [RCV003850360] Chr5:115625756 [GRCh38]
Chr5:114961453 [GRCh37]
Chr5:5q22.3		 uncertain significance
NM_181836.6(TMED7):c.155A>G (p.Asp52Gly) single nucleotide variant not provided [RCV003859727] Chr5:115625638 [GRCh38]
Chr5:114961335 [GRCh37]
Chr5:5q22.3		 uncertain significance
GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1 copy number loss not specified [RCV003986577] Chr5:93828571..123711334 [GRCh37]
Chr5:5q15-23.2		 pathogenic
NM_181836.6(TMED7):c.656C>G (p.Thr219Arg) single nucleotide variant not specified [RCV004684324] Chr5:115616228 [GRCh38]
Chr5:114951925 [GRCh37]
Chr5:5q22.3		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIRLET7A2hsa-let-7a-5pMirtarbaseexternal_infoWestern blotNon-Functional MTI19818775
MIR181B2hsa-miR-181b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22446332
MIR181B1hsa-miR-181b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22446332
MIR221hsa-miR-221-3pMirtarbaseexternal_infoWestern blotFunctional MTI21226887
MIR221hsa-miR-221-3pMirtarbaseexternal_infoReporter assay;qRT-PCRFunctional MTI20018759
MIRLET7A1hsa-let-7a-5pMirtarbaseexternal_infoWestern blotNon-Functional MTI19818775
MIR222hsa-miR-222-3pMirtarbaseexternal_infoWestern blotFunctional MTI21226887
MIR222hsa-miR-222-3pMirtarbaseexternal_infoWestern blot;qRT-PCRFunctional MTI20018759
MIR148Ahsa-miR-148a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21552422
MIR24-1hsa-miR-24-3pMirtarbaseexternal_infoWestern blotFunctional MTI19748357
MIR24-2hsa-miR-24-3pMirtarbaseexternal_infoWestern blotFunctional MTI19748357

Predicted Target Of
Summary Value
Count of predictions:892
Count of miRNA genes:580
Interacting mature miRNAs:636
Transcripts:ENST00000456936, ENST00000503010, ENST00000508420
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597386233GWAS1482307_Hsusceptibility to chronic sinus infection measurement QTL GWAS1482307 (human)0.000009susceptibility to chronic sinus infection measurement5115614069115614070Human

Markers in Region
D5S1751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375114,951,156 - 114,951,311UniSTSGRCh37
Build 365114,979,055 - 114,979,210RGDNCBI36
Celera5110,900,430 - 110,900,585RGD
Cytogenetic Map5q22.3UniSTS
HuRef5110,132,761 - 110,132,916UniSTS
Whitehead-YAC Contig Map5 UniSTS
D5S1568E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375114,949,228 - 114,949,346UniSTSGRCh37
Build 365114,977,127 - 114,977,245RGDNCBI36
Celera5110,898,502 - 110,898,620RGD
Cytogenetic Map5q22.3UniSTS
HuRef5110,130,833 - 110,130,951UniSTS
D5S2628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375114,949,227 - 114,949,356UniSTSGRCh37
Build 365114,977,126 - 114,977,255RGDNCBI36
Celera5110,898,501 - 110,898,630RGD
Cytogenetic Map5q22.3UniSTS
HuRef5110,130,832 - 110,130,961UniSTS
TNG Radiation Hybrid Map551606.0UniSTS
Stanford-G3 RH Map54476.0UniSTS
NCBI RH Map5824.3UniSTS
GeneMap99-G3 RH Map54564.0UniSTS
RH16469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375114,949,859 - 114,950,036UniSTSGRCh37
Build 365114,977,758 - 114,977,935RGDNCBI36
Celera5110,899,133 - 110,899,310RGD
Cytogenetic Map5q22.3UniSTS
HuRef5110,131,464 - 110,131,641UniSTS
GeneMap99-GB4 RH Map5473.64UniSTS
NCBI RH Map5826.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2215 2786 2196 4488 1420 1702 388 1183 226 1968 5778 5600 3544 511 1395 1231 162

Sequence


Ensembl Acc Id: ENST00000456936   ⟹   ENSP00000405926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5115,613,210 - 115,626,036 (-)Ensembl
Ensembl Acc Id: ENST00000503010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5115,616,066 - 115,626,036 (-)Ensembl
Ensembl Acc Id: ENST00000508420   ⟹   ENSP00000450928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5115,620,628 - 115,632,992 (-)Ensembl
RefSeq Acc Id: NM_181836   ⟹   NP_861974
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385115,613,210 - 115,626,036 (-)NCBI
GRCh375114,948,905 - 114,961,876 (-)RGD
Build 365114,977,102 - 114,989,595 (-)NCBI Archive
Celera5110,898,179 - 110,911,150 (-)RGD
HuRef5110,130,510 - 110,143,485 (-)ENTREZGENE
CHM1_15114,381,532 - 114,394,506 (-)NCBI
T2T-CHM13v2.05116,125,992 - 116,138,818 (-)NCBI
Sequence:
RefSeq Acc Id: NP_861974   ⟸   NM_181836
- Peptide Label: precursor
- UniProtKB: Q8WUU6 (UniProtKB/Swiss-Prot),   Q8NBU8 (UniProtKB/Swiss-Prot),   Q96K51 (UniProtKB/Swiss-Prot),   Q9Y3B3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000450928   ⟸   ENST00000508420
Ensembl Acc Id: ENSP00000405926   ⟸   ENST00000456936
Protein Domains
GOLD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y3B3-F1-model_v2 AlphaFold Q9Y3B3 1-224 view protein structure

Promoters
RGD ID:6870314
Promoter ID:EPDNEW_H8322
Type:initiation region
Name:TMED7_2
Description:transmembrane p24 trafficking protein 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8323  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385115,615,476 - 115,615,536EPDNEW
RGD ID:6870316
Promoter ID:EPDNEW_H8323
Type:initiation region
Name:TMED7_1
Description:transmembrane p24 trafficking protein 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8322  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385115,626,010 - 115,626,070EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24253 AgrOrtholog
COSMIC TMED7 COSMIC
Ensembl Genes ENSG00000134970 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000456936 ENTREZGENE
  ENST00000456936.4 UniProtKB/Swiss-Prot
  ENST00000508420.1 UniProtKB/TrEMBL
Gene3D-CATH GOLD domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134970 GTEx
HGNC ID HGNC:24253 ENTREZGENE
Human Proteome Map TMED7 Human Proteome Map
InterPro GOLD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GOLD_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TMP21-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100302736 UniProtKB/Swiss-Prot
  hsa:51014 UniProtKB/Swiss-Prot
NCBI Gene 51014 ENTREZGENE
OMIM 619990 OMIM
PANTHER PTHR22811 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EMP24_GP25L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134891536 PharmGKB
PROSITE GOLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EMP24_GP25L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF101576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt G3V2Y2_HUMAN UniProtKB/TrEMBL
  Q3B7W7_HUMAN UniProtKB/TrEMBL
  Q8NBU8 ENTREZGENE
  Q8WUU6 ENTREZGENE
  Q96K51 ENTREZGENE
  Q9Y3B3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q8NBU8 UniProtKB/Swiss-Prot
  Q8WUU6 UniProtKB/Swiss-Prot
  Q96K51 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-08-18 TMED7  transmembrane p24 trafficking protein 7    transmembrane emp24 protein transport domain containing 7  Symbol and/or name change 5135510 APPROVED