TMEM259 (transmembrane protein 259) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: TMEM259 (transmembrane protein 259) Homo sapiens
Analyze
Symbol: TMEM259
Name: transmembrane protein 259
RGD ID: 1322435
HGNC Page HGNC:17039
Description: Predicted to be involved in positive regulation of ERAD pathway and response to endoplasmic reticulum stress. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ASBABP1; aspecific BCL2 ARE-binding protein 1; C19orf6; MBRL; membralin; MGC4022; R32184_3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38191,009,653 - 1,021,123 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl191,009,648 - 1,021,179 (-)EnsemblGRCh38hg38GRCh38
GRCh37191,009,652 - 1,021,122 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3619960,650 - 972,141 (-)NCBINCBI36Build 36hg18NCBI36
Build 3419960,649 - 972,114NCBI
Celera19941,988 - 953,479 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19782,787 - 794,267 (-)NCBIHuRef
CHM1_1191,008,804 - 1,020,294 (-)NCBICHM1_1
T2T-CHM13v2.019972,322 - 983,792 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12638133   PMID:14702039   PMID:15057824   PMID:15489334   PMID:16084606   PMID:16169070   PMID:21873635   PMID:21903422   PMID:22119785   PMID:22810586   PMID:23798571  
PMID:26186194   PMID:26760575   PMID:28298427   PMID:28514442   PMID:29568061   PMID:30021884   PMID:30833792   PMID:31056421   PMID:31073040   PMID:31616248   PMID:32423001   PMID:32614325  
PMID:32707033   PMID:32738194   PMID:33545068   PMID:33961781   PMID:34186245   PMID:35384245   PMID:35696571   PMID:35748872   PMID:35961308   PMID:36180527   PMID:36215168  


Genomics

Comparative Map Data
TMEM259
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38191,009,653 - 1,021,123 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl191,009,648 - 1,021,179 (-)EnsemblGRCh38hg38GRCh38
GRCh37191,009,652 - 1,021,122 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3619960,650 - 972,141 (-)NCBINCBI36Build 36hg18NCBI36
Build 3419960,649 - 972,114NCBI
Celera19941,988 - 953,479 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19782,787 - 794,267 (-)NCBIHuRef
CHM1_1191,008,804 - 1,020,294 (-)NCBICHM1_1
T2T-CHM13v2.019972,322 - 983,792 (-)NCBIT2T-CHM13v2.0
Tmem259
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391079,812,954 - 79,820,159 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1079,810,782 - 79,820,164 (-)EnsemblGRCm39 Ensembl
GRCm381079,977,120 - 79,984,325 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1079,974,948 - 79,984,330 (-)EnsemblGRCm38mm10GRCm38
MGSCv371079,439,865 - 79,447,075 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361079,380,249 - 79,387,291 (-)NCBIMGSCv36mm8
Celera1080,991,927 - 80,999,137 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Tmem259
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8710,374,804 - 10,381,566 (+)NCBIGRCr8
mRatBN7.279,724,196 - 9,730,932 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl79,722,485 - 9,730,932 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx712,606,557 - 12,613,232 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0714,481,879 - 14,488,554 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0712,343,077 - 12,349,752 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0712,771,239 - 12,777,901 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl712,771,227 - 12,779,862 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0712,940,961 - 12,947,641 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4711,236,953 - 11,244,044 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1711,237,414 - 11,244,044 (+)NCBI
Celera77,899,960 - 7,906,553 (+)NCBICelera
Cytogenetic Map7q11NCBI
Tmem259
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554956,852,278 - 6,859,351 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554956,856,609 - 6,859,948 (+)NCBIChiLan1.0ChiLan1.0
TMEM259
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2205,339,668 - 5,351,257 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1194,578,967 - 4,590,546 (-)NCBINHGRI_mPanPan1
PanPan1.1 Ensembl19983,507 - 994,212 (-)Ensemblpanpan1.1panPan2
TMEM259
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,695,004 - 57,703,650 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2057,695,002 - 57,749,891 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,497,098 - 57,505,634 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02058,437,023 - 58,445,561 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2058,437,018 - 58,445,559 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12057,492,365 - 57,500,879 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02057,971,883 - 57,980,411 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02058,174,902 - 58,183,421 (+)NCBIUU_Cfam_GSD_1.0
Tmem259
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118217,385,339 - 217,394,323 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936588441,135 - 449,444 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936588440,460 - 449,440 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM259
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,393,611 - 77,402,262 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,393,577 - 77,402,266 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2277,595,383 - 77,604,004 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM259
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.16766,097 - 777,348 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl6765,587 - 777,399 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660818,142,463 - 8,153,815 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem259
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248287,606,339 - 7,614,107 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248287,606,177 - 7,614,644 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMEM259
64 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 copy number gain See cases [RCV000052877] Chr19:591812..1358152 [GRCh38]
Chr19:591812..1358151 [GRCh37]
Chr19:542812..1309151 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:945098-1972299)x1 copy number loss See cases [RCV000053938] Chr19:945098..1972299 [GRCh38]
Chr19:945098..1972298 [GRCh37]
Chr19:896098..1923298 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 copy number loss See cases [RCV000053910] Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|See cases [RCV000053911] Chr19:266117..1076399 [GRCh38]
Chr19:266117..1076398 [GRCh37]
Chr19:217117..1027398 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3		 likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:786550-1297500)x1 copy number loss See cases [RCV000136733] Chr19:786550..1297500 [GRCh38]
Chr19:786550..1297499 [GRCh37]
Chr19:737550..1248499 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:823554-1206859)x3 copy number gain See cases [RCV000203438] Chr19:823554..1206859 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3 copy number gain See cases [RCV000239425] Chr19:260912..1163934 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852323)_(1207208_?)dup duplication Peutz-Jeghers syndrome [RCV000527991] Chr19:852323..1207208 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:415092-715725)x3 copy number gain See cases [RCV000511102] Chr19:415092..715725 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001033026.2(TMEM259):c.1430C>A (p.Ala477Glu) single nucleotide variant not specified [RCV004332200] Chr19:1010783 [GRCh38]
Chr19:1010782 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1463C>T (p.Ala488Val) single nucleotide variant not specified [RCV004329420] Chr19:1010750 [GRCh38]
Chr19:1010749 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3 copy number gain not provided [RCV000513059] Chr19:266117..1094614 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3 copy number gain not provided [RCV000684086] Chr19:715724..1438636 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852323)_(1222011_?)del deletion Peutz-Jeghers syndrome [RCV000708465] Chr19:852323..1222011 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852319)_(1226656_?)dup duplication Peutz-Jeghers syndrome [RCV000707897] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_852323)_(1226652_?)del deletion Peutz-Jeghers syndrome [RCV000708221] Chr19:852323..1226652 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:1008504-1013634)x4 copy number gain not provided [RCV000739946] Chr19:1008504..1013634 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1008504-1018318)x4 copy number gain not provided [RCV000739947] Chr19:1008504..1018318 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1008504-1027797)x3 copy number gain not provided [RCV000739948] Chr19:1008504..1027797 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1008704-1014398)x4 copy number gain not provided [RCV000739949] Chr19:1008704..1014398 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1008704-1018318)x4 copy number gain not provided [RCV000739950] Chr19:1008704..1018318 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1008704-1027797)x4 copy number gain not provided [RCV000739951] Chr19:1008704..1027797 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:990891-1192769)x3 copy number gain not provided [RCV000752476] Chr19:990891..1192769 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:990971-1027797)x3 copy number gain not provided [RCV000752477] Chr19:990971..1027797 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:994074-1027797)x3 copy number gain not provided [RCV000752480] Chr19:994074..1027797 [GRCh37]
Chr19:19p13.3		 benign
NC_000019.9:g.(?_852326)_(1226646_?)del deletion Peutz-Jeghers syndrome [RCV001033230] Chr19:852326..1226646 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001032652] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3 copy number gain See cases [RCV002285065] Chr19:260911..2256387 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_001033026.2(TMEM259):c.1723G>A (p.Gly575Ser) single nucleotide variant not specified [RCV004292387] Chr19:1010490 [GRCh38]
Chr19:1010489 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(2151333_?)dup duplication Cyclical neutropenia [RCV003107569] Chr19:589946..2151333 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852319)_(1226656_?)del deletion Peutz-Jeghers syndrome [RCV001033903] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001307813] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(1650247_?)dup duplication not provided [RCV001940167] Chr19:589946..1650247 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(1106571_?)del deletion Cyclical neutropenia [RCV001916881]|not provided [RCV001923747] Chr19:589946..1106571 [GRCh37]
Chr19:19p13.3		 pathogenic|uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1319319) copy number loss Peutz-Jeghers syndrome [RCV002280635] Chr19:260911..1319319 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_001033026.2(TMEM259):c.89C>T (p.Pro30Leu) single nucleotide variant not specified [RCV004218357] Chr19:1020908 [GRCh38]
Chr19:1020907 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.127C>G (p.Arg43Gly) single nucleotide variant not specified [RCV004242467] Chr19:1020870 [GRCh38]
Chr19:1020869 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.575A>G (p.Gln192Arg) single nucleotide variant not specified [RCV004170166] Chr19:1013273 [GRCh38]
Chr19:1013272 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.413C>T (p.Pro138Leu) single nucleotide variant not specified [RCV004207515] Chr19:1014286 [GRCh38]
Chr19:1014285 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1669C>G (p.Leu557Val) single nucleotide variant not specified [RCV004207514] Chr19:1010544 [GRCh38]
Chr19:1010543 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.537C>G (p.Phe179Leu) single nucleotide variant not specified [RCV004175000] Chr19:1013311 [GRCh38]
Chr19:1013310 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.460G>A (p.Glu154Lys) single nucleotide variant not specified [RCV004133409] Chr19:1014239 [GRCh38]
Chr19:1014238 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1256A>G (p.His419Arg) single nucleotide variant not specified [RCV004229694] Chr19:1011157 [GRCh38]
Chr19:1011156 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.891G>A (p.Met297Ile) single nucleotide variant not specified [RCV004106912] Chr19:1011943 [GRCh38]
Chr19:1011942 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.542C>T (p.Pro181Leu) single nucleotide variant not specified [RCV004186049] Chr19:1013306 [GRCh38]
Chr19:1013305 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1513G>A (p.Val505Ile) single nucleotide variant not provided [RCV004695563]|not specified [RCV004187779] Chr19:1010700 [GRCh38]
Chr19:1010699 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.170C>T (p.Ser57Leu) single nucleotide variant not specified [RCV004246580] Chr19:1020827 [GRCh38]
Chr19:1020826 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.275G>A (p.Arg92His) single nucleotide variant not specified [RCV004187932] Chr19:1014424 [GRCh38]
Chr19:1014423 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.104A>C (p.Asn35Thr) single nucleotide variant not specified [RCV004244047] Chr19:1020893 [GRCh38]
Chr19:1020892 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.471G>C (p.Glu157Asp) single nucleotide variant not specified [RCV004126192] Chr19:1014228 [GRCh38]
Chr19:1014227 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.119T>G (p.Val40Gly) single nucleotide variant not specified [RCV004093749] Chr19:1020878 [GRCh38]
Chr19:1020877 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1144C>T (p.Leu382Phe) single nucleotide variant not specified [RCV004142343] Chr19:1011440 [GRCh38]
Chr19:1011439 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1498C>A (p.Pro500Thr) single nucleotide variant not specified [RCV004153255] Chr19:1010715 [GRCh38]
Chr19:1010714 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.448A>G (p.Met150Val) single nucleotide variant not specified [RCV004230716] Chr19:1014251 [GRCh38]
Chr19:1014250 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001033026.2(TMEM259):c.1101G>A (p.Met367Ile) single nucleotide variant not specified [RCV004315285] Chr19:1011483 [GRCh38]
Chr19:1011482 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.442C>G (p.Leu148Val) single nucleotide variant not specified [RCV004269666] Chr19:1014257 [GRCh38]
Chr19:1014256 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1681C>T (p.Leu561Phe) single nucleotide variant not specified [RCV004266024] Chr19:1010532 [GRCh38]
Chr19:1010531 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.359G>A (p.Ser120Asn) single nucleotide variant not specified [RCV004265419] Chr19:1014340 [GRCh38]
Chr19:1014339 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1522G>A (p.Gly508Arg) single nucleotide variant not specified [RCV004259123] Chr19:1010691 [GRCh38]
Chr19:1010690 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.801G>T (p.Met267Ile) single nucleotide variant not specified [RCV004275415] Chr19:1012106 [GRCh38]
Chr19:1012105 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1375C>A (p.Arg459Ser) single nucleotide variant not specified [RCV004255794] Chr19:1010838 [GRCh38]
Chr19:1010837 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.596C>T (p.Thr199Met) single nucleotide variant not specified [RCV004250285] Chr19:1013252 [GRCh38]
Chr19:1013251 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.365C>A (p.Ala122Glu) single nucleotide variant not specified [RCV004337804] Chr19:1014334 [GRCh38]
Chr19:1014333 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.12C>G (p.His4Gln) single nucleotide variant not specified [RCV004363266] Chr19:1020985 [GRCh38]
Chr19:1020984 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.589C>G (p.Pro197Ala) single nucleotide variant not specified [RCV004350797] Chr19:1013259 [GRCh38]
Chr19:1013258 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1553C>T (p.Ala518Val) single nucleotide variant not specified [RCV004340449] Chr19:1010660 [GRCh38]
Chr19:1010659 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_001033026.2(TMEM259):c.1065C>T (p.Thr355=) single nucleotide variant not provided [RCV003423149] Chr19:1011599 [GRCh38]
Chr19:1011598 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:260911-1210337)x1 copy number loss not specified [RCV003986113] Chr19:260911..1210337 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:352288-1186507)x3 copy number gain not specified [RCV003986107] Chr19:352288..1186507 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1709T>C (p.Leu570Pro) single nucleotide variant not specified [RCV004467695] Chr19:1010504 [GRCh38]
Chr19:1010503 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1466C>T (p.Pro489Leu) single nucleotide variant not specified [RCV004467689] Chr19:1010747 [GRCh38]
Chr19:1010746 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1603G>A (p.Gly535Ser) single nucleotide variant not specified [RCV004467693] Chr19:1010610 [GRCh38]
Chr19:1010609 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001033026.2(TMEM259):c.1651G>A (p.Ala551Thr) single nucleotide variant not specified [RCV004467694] Chr19:1010562 [GRCh38]
Chr19:1010561 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.700G>A (p.Val234Ile) single nucleotide variant not specified [RCV004467698] Chr19:1012481 [GRCh38]
Chr19:1012480 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.919G>A (p.Ala307Thr) single nucleotide variant not specified [RCV004467702] Chr19:1011915 [GRCh38]
Chr19:1011914 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:916637-1275315)x1 copy number loss not provided [RCV004577439] Chr19:916637..1275315 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_001033026.2(TMEM259):c.1174G>A (p.Ala392Thr) single nucleotide variant not specified [RCV004467683] Chr19:1011410 [GRCh38]
Chr19:1011409 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1430C>T (p.Ala477Val) single nucleotide variant not specified [RCV004467688] Chr19:1010783 [GRCh38]
Chr19:1010782 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001033026.2(TMEM259):c.1531G>A (p.Gly511Arg) single nucleotide variant not specified [RCV004467691] Chr19:1010682 [GRCh38]
Chr19:1010681 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.727C>T (p.Arg243Trp) single nucleotide variant not specified [RCV004467699] Chr19:1012180 [GRCh38]
Chr19:1012179 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1289C>T (p.Ala430Val) single nucleotide variant not specified [RCV004467684] Chr19:1011124 [GRCh38]
Chr19:1011123 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1364T>C (p.Leu455Pro) single nucleotide variant not specified [RCV004467686] Chr19:1010849 [GRCh38]
Chr19:1010848 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1376G>A (p.Arg459His) single nucleotide variant not specified [RCV004467687] Chr19:1010837 [GRCh38]
Chr19:1010836 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1048G>A (p.Ala350Thr) single nucleotide variant not specified [RCV004467682] Chr19:1011616 [GRCh38]
Chr19:1011615 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1537C>T (p.Pro513Ser) single nucleotide variant not specified [RCV004467692] Chr19:1010676 [GRCh38]
Chr19:1010675 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.856G>A (p.Val286Met) single nucleotide variant not specified [RCV004467701] Chr19:1011978 [GRCh38]
Chr19:1011977 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.944C>T (p.Thr315Met) single nucleotide variant not specified [RCV004679701] Chr19:1011797 [GRCh38]
Chr19:1011796 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.476C>A (p.Thr159Asn) single nucleotide variant not specified [RCV004679702] Chr19:1014223 [GRCh38]
Chr19:1014222 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.828C>G (p.Asn276Lys) single nucleotide variant not specified [RCV004679703] Chr19:1012079 [GRCh38]
Chr19:1012078 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1072C>A (p.Leu358Met) single nucleotide variant not specified [RCV004679704] Chr19:1011592 [GRCh38]
Chr19:1011591 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.1718C>T (p.Ala573Val) single nucleotide variant not specified [RCV004679705] Chr19:1010495 [GRCh38]
Chr19:1010494 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.967C>T (p.Arg323Trp) single nucleotide variant not specified [RCV004467703] Chr19:1011774 [GRCh38]
Chr19:1011773 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.305G>A (p.Arg102His) single nucleotide variant not specified [RCV004467696] Chr19:1014394 [GRCh38]
Chr19:1014393 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.364G>A (p.Ala122Thr) single nucleotide variant not specified [RCV004467697] Chr19:1014335 [GRCh38]
Chr19:1014334 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001033026.2(TMEM259):c.787G>A (p.Asp263Asn) single nucleotide variant not specified [RCV004467700] Chr19:1012120 [GRCh38]
Chr19:1012119 [GRCh37]
Chr19:19p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6136
Count of miRNA genes:974
Interacting mature miRNAs:1214
Transcripts:ENST00000333175, ENST00000356663, ENST00000586250, ENST00000586285, ENST00000586704, ENST00000587266, ENST00000587644, ENST00000589055, ENST00000589831, ENST00000591128, ENST00000592052, ENST00000592590, ENST00000592618, ENST00000593068, ENST00000607316
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
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
597206120GWAS1302194_Hinsulin measurement QTL GWAS1302194 (human)1e-08insulin measurementpancreatic islet insulin release measurement (CMO:0001216)1910107561010757Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
596979447GWAS1098966_Hbody height QTL GWAS1098966 (human)8e-12body height (VT:0001253)body height (CMO:0000106)1910120031012004Human
597280652GWAS1376726_Hbody height QTL GWAS1376726 (human)8e-12body height (VT:0001253)body height (CMO:0000106)1910120031012004Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
597335180GWAS1431254_HRS-warfarin measurement QTL GWAS1431254 (human)0.000001RS-warfarin measurement1910179711017972Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
597034874GWAS1130948_Hbody height QTL GWAS1130948 (human)5e-14body height (VT:0001253)body height (CMO:0000106)1910120031012004Human
597345700GWAS1441774_Hlymphocyte measurement QTL GWAS1441774 (human)3e-10lymphocyte measurement1910191061019107Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human

Markers in Region
RH91192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,012,121 - 1,012,564UniSTSGRCh37
Build 3619963,121 - 963,564RGDNCBI36
Celera19944,459 - 944,902RGD
Cytogenetic Map19p13.3UniSTS
HuRef19785,258 - 785,701UniSTS
GeneMap99-GB4 RH Map196.06UniSTS
PMC154217P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,021,221 - 1,021,728UniSTSGRCh37
Build 3619972,221 - 972,728RGDNCBI36
Celera19953,559 - 954,066RGD
Cytogenetic Map19p13.3UniSTS
HuRef19794,347 - 794,853UniSTS
PMC154217P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,021,405 - 1,021,514UniSTSGRCh37
Build 3619972,405 - 972,514RGDNCBI36
Celera19953,743 - 953,852RGD
Cytogenetic Map19p13.3UniSTS
HuRef19794,530 - 794,639UniSTS
SGC32341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,009,679 - 1,009,797UniSTSGRCh37
Build 3619960,679 - 960,797RGDNCBI36
Celera19942,017 - 942,135RGD
Cytogenetic Map19p13.3UniSTS
HuRef19782,816 - 782,934UniSTS
GeneMap99-GB4 RH Map192.4UniSTS
Whitehead-RH Map197.2UniSTS


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_001033026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_430159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY140906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ895919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ005958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000333175   ⟹   ENSP00000331423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,009,651 - 1,021,115 (-)Ensembl
Ensembl Acc Id: ENST00000356663   ⟹   ENSP00000349087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,009,653 - 1,021,123 (-)Ensembl
Ensembl Acc Id: ENST00000586250   ⟹   ENSP00000476127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,012,113 - 1,014,304 (-)Ensembl
Ensembl Acc Id: ENST00000586285   ⟹   ENSP00000475219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,010,695 - 1,011,992 (-)Ensembl
Ensembl Acc Id: ENST00000586704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,009,653 - 1,020,851 (-)Ensembl
Ensembl Acc Id: ENST00000589055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,011,866 - 1,014,247 (-)Ensembl
Ensembl Acc Id: ENST00000589831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,012,541 - 1,013,639 (-)Ensembl
Ensembl Acc Id: ENST00000592052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,009,720 - 1,011,356 (-)Ensembl
Ensembl Acc Id: ENST00000592590   ⟹   ENSP00000475354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,009,650 - 1,017,420 (-)Ensembl
Ensembl Acc Id: ENST00000592618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,009,652 - 1,012,289 (-)Ensembl
Ensembl Acc Id: ENST00000593068   ⟹   ENSP00000475704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,009,648 - 1,021,179 (-)Ensembl
Ensembl Acc Id: ENST00000607316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,011,852 - 1,013,342 (-)Ensembl
RefSeq Acc Id: NM_001033026   ⟹   NP_001028198
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,009,653 - 1,021,123 (-)NCBI
GRCh37191,009,650 - 1,021,173 (-)NCBI
Build 3619960,650 - 972,141 (-)NCBI Archive
Celera19941,988 - 953,479 (-)RGD
HuRef19782,787 - 794,267 (-)RGD
CHM1_1191,008,804 - 1,020,294 (-)NCBI
T2T-CHM13v2.019972,322 - 983,792 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033420   ⟹   NP_219488
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,009,653 - 1,021,123 (-)NCBI
GRCh37191,009,650 - 1,021,173 (-)NCBI
Build 3619960,650 - 972,141 (-)NCBI Archive
Celera19941,988 - 953,479 (-)RGD
HuRef19782,787 - 794,267 (-)RGD
CHM1_1191,008,804 - 1,020,294 (-)NCBI
T2T-CHM13v2.019972,322 - 983,792 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005259675   ⟹   XP_005259732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,009,653 - 1,021,123 (-)NCBI
GRCh37191,009,650 - 1,021,173 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005259676   ⟹   XP_005259733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,009,653 - 1,021,123 (-)NCBI
GRCh37191,009,650 - 1,021,173 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005259677   ⟹   XP_005259734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,009,653 - 1,021,123 (-)NCBI
GRCh37191,009,650 - 1,021,173 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005259678   ⟹   XP_005259735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,009,653 - 1,021,123 (-)NCBI
GRCh37191,009,650 - 1,021,173 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027457   ⟹   XP_016882946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,009,653 - 1,021,123 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451773   ⟹   XP_024307541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,009,653 - 1,021,123 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439660   ⟹   XP_047295616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,009,653 - 1,021,123 (-)NCBI
RefSeq Acc Id: XM_047439661   ⟹   XP_047295617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,011,023 - 1,021,123 (-)NCBI
RefSeq Acc Id: XM_054322568   ⟹   XP_054178543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019972,322 - 983,792 (-)NCBI
RefSeq Acc Id: XM_054322569   ⟹   XP_054178544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019972,322 - 983,792 (-)NCBI
RefSeq Acc Id: XM_054322570   ⟹   XP_054178545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019972,322 - 983,792 (-)NCBI
RefSeq Acc Id: XM_054322571   ⟹   XP_054178546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019972,322 - 983,792 (-)NCBI
RefSeq Acc Id: XM_054322572   ⟹   XP_054178547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019972,322 - 983,792 (-)NCBI
RefSeq Acc Id: XM_054322573   ⟹   XP_054178548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019972,322 - 983,792 (-)NCBI
RefSeq Acc Id: XM_054322574   ⟹   XP_054178549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019972,322 - 983,792 (-)NCBI
RefSeq Acc Id: XM_054322575   ⟹   XP_054178550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019973,692 - 983,792 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001028198 (Get FASTA)   NCBI Sequence Viewer  
  NP_219488 (Get FASTA)   NCBI Sequence Viewer  
  XP_005259732 (Get FASTA)   NCBI Sequence Viewer  
  XP_005259733 (Get FASTA)   NCBI Sequence Viewer  
  XP_005259734 (Get FASTA)   NCBI Sequence Viewer  
  XP_005259735 (Get FASTA)   NCBI Sequence Viewer  
  XP_016882946 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307541 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295616 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295617 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178543 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178544 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178545 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178546 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178547 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178548 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178549 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178550 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC12681 (Get FASTA)   NCBI Sequence Viewer  
  AAH08957 (Get FASTA)   NCBI Sequence Viewer  
  AAN25597 (Get FASTA)   NCBI Sequence Viewer  
  AAY27747 (Get FASTA)   NCBI Sequence Viewer  
  BAC03381 (Get FASTA)   NCBI Sequence Viewer  
  BAG53122 (Get FASTA)   NCBI Sequence Viewer  
  EAW69571 (Get FASTA)   NCBI Sequence Viewer  
  EAW69572 (Get FASTA)   NCBI Sequence Viewer  
  EAW69573 (Get FASTA)   NCBI Sequence Viewer  
  EAW69574 (Get FASTA)   NCBI Sequence Viewer  
  EAW69575 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000331423
  ENSP00000331423.4
  ENSP00000349087
  ENSP00000349087.2
  ENSP00000475219.1
  ENSP00000475354.2
  ENSP00000475704.3
  ENSP00000476127.1
GenBank Protein Q4ZIN3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_219488   ⟸   NM_033420
- Peptide Label: isoform 2
- UniProtKB: A0A0A0MTU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001028198   ⟸   NM_001033026
- Peptide Label: isoform 1
- UniProtKB: Q8NF79 (UniProtKB/Swiss-Prot),   O60392 (UniProtKB/Swiss-Prot),   Q96H30 (UniProtKB/Swiss-Prot),   Q4ZIN3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005259733   ⟸   XM_005259676
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005259734   ⟸   XM_005259677
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005259735   ⟸   XM_005259678
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005259732   ⟸   XM_005259675
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016882946   ⟸   XM_017027457
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024307541   ⟸   XM_024451773
- Peptide Label: isoform X7
- Sequence:
Ensembl Acc Id: ENSP00000331423   ⟸   ENST00000333175
Ensembl Acc Id: ENSP00000476127   ⟸   ENST00000586250
Ensembl Acc Id: ENSP00000475219   ⟸   ENST00000586285
Ensembl Acc Id: ENSP00000349087   ⟸   ENST00000356663
Ensembl Acc Id: ENSP00000475354   ⟸   ENST00000592590
Ensembl Acc Id: ENSP00000475704   ⟸   ENST00000593068
RefSeq Acc Id: XP_047295616   ⟸   XM_047439660
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047295617   ⟸   XM_047439661
- Peptide Label: isoform X8
- UniProtKB: A0A0A0MTU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178549   ⟸   XM_054322574
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054178546   ⟸   XM_054322571
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054178544   ⟸   XM_054322569
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054178548   ⟸   XM_054322573
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054178545   ⟸   XM_054322570
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054178547   ⟸   XM_054322572
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054178543   ⟸   XM_054322568
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054178550   ⟸   XM_054322575
- Peptide Label: isoform X8
- UniProtKB: A0A0A0MTU3 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q4ZIN3-F1-model_v2 AlphaFold Q4ZIN3 1-620 view protein structure

Promoters
RGD ID:6811514
Promoter ID:HG_ACW:39012
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:C19ORF6.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3619968,026 - 968,526 (-)MPROMDB
RGD ID:6795249
Promoter ID:HG_KWN:28354
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:ENST00000384627,   NM_001033026,   NM_033420
Position:
Human AssemblyChrPosition (strand)Source
Build 3619972,036 - 972,702 (-)MPROMDB
RGD ID:7237767
Promoter ID:EPDNEW_H24629
Type:initiation region
Name:TMEM259_1
Description:transmembrane protein 259
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
GRCh38191,021,123 - 1,021,183EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17039 AgrOrtholog
COSMIC TMEM259 COSMIC
Ensembl Genes ENSG00000182087 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000333175 ENTREZGENE
  ENST00000333175.9 UniProtKB/Swiss-Prot
  ENST00000356663 ENTREZGENE
  ENST00000356663.8 UniProtKB/Swiss-Prot
  ENST00000586250.1 UniProtKB/TrEMBL
  ENST00000586285.2 UniProtKB/TrEMBL
  ENST00000592590.6 UniProtKB/TrEMBL
  ENST00000593068.7 UniProtKB/TrEMBL
GTEx ENSG00000182087 GTEx
HGNC ID HGNC:17039 ENTREZGENE
Human Proteome Map TMEM259 Human Proteome Map
InterPro Membralin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91304 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 91304 ENTREZGENE
OMIM 611011 OMIM
PANTHER MEMBRALIN/KINETOCHORE PROTEIN NUF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21650:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Membralin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134936083 PharmGKB
UniProt A0A0A0MTU3 ENTREZGENE, UniProtKB/TrEMBL
  B3KTL0_HUMAN UniProtKB/TrEMBL
  MBRL_HUMAN UniProtKB/Swiss-Prot
  O60392 ENTREZGENE
  Q4ZIN3 ENTREZGENE
  Q8NF79 ENTREZGENE
  Q96H30 ENTREZGENE
  U3KPU1_HUMAN UniProtKB/TrEMBL
  U3KPY4_HUMAN UniProtKB/TrEMBL
  U3KQQ5_HUMAN UniProtKB/TrEMBL
UniProt Secondary O60392 UniProtKB/Swiss-Prot
  Q8NF79 UniProtKB/Swiss-Prot
  Q96H30 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-02-12 TMEM259  transmembrane protein 259  C19orf6  chromosome 19 open reading frame 6  Symbol and/or name change 5135510 APPROVED