STAMBP (STAM binding protein) - Rat Genome Database

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Gene: STAMBP (STAM binding protein) Homo sapiens
Analyze
Symbol: STAMBP
Name: STAM binding protein
RGD ID: 1606575
HGNC Page HGNC
Description: Enables protein domain specific binding activity and thiol-dependent deubiquitinase. Involved in negative regulation of Ras protein signal transduction and negative regulation of phosphatidylinositol 3-kinase signaling. Acts upstream of or within mitotic cytokinesis and protein deubiquitination. Located in cleavage furrow; cytosol; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AMSH; associated molecule with the SH3 domain of STAM; endosome-associated ubiquitin isopeptidase; MGC126516; MGC126518; MICCAP; STAM-binding protein; testicular secretory protein Li 54
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 Ensembl273,828,916 - 73,873,659 (+)EnsemblGRCh38hg38GRCh38
GRCh38273,828,911 - 73,873,656 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37274,056,088 - 74,100,783 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36273,909,594 - 73,943,519 (+)NCBINCBI36hg18NCBI36
Celera273,887,352 - 73,921,265 (+)NCBI
Cytogenetic Map2p13.1NCBI
HuRef273,791,345 - 73,829,114 (+)NCBIHuRef
CHM1_1273,985,403 - 74,023,636 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:10224278   PMID:10383417   PMID:10899310   PMID:10982817   PMID:11483516   PMID:11713295   PMID:12176364   PMID:12370088   PMID:12477932   PMID:12773374  
PMID:12810066   PMID:14702039   PMID:14728725   PMID:14737182   PMID:14755250   PMID:15314065   PMID:15489334   PMID:15815621   PMID:16169070   PMID:16189514   PMID:16431367   PMID:16461635  
PMID:16520378   PMID:16716190   PMID:16730941   PMID:16760479   PMID:16854379   PMID:17078930   PMID:17146056   PMID:17159328   PMID:17261583   PMID:17711858   PMID:18029348   PMID:18388320  
PMID:18395747   PMID:18758443   PMID:19056867   PMID:19060904   PMID:19373254   PMID:19615732   PMID:19684015   PMID:19906316   PMID:20159979   PMID:20622874   PMID:20936779   PMID:21448666  
PMID:21706016   PMID:21827950   PMID:21873635   PMID:21988832   PMID:22626734   PMID:22800866   PMID:22863883   PMID:23533145   PMID:23542699   PMID:23562397   PMID:24151880   PMID:24354023  
PMID:24961813   PMID:24975362   PMID:24980434   PMID:25070368   PMID:25416956   PMID:25527291   PMID:25692795   PMID:25752577   PMID:26186194   PMID:26344197   PMID:26368668   PMID:26496610  
PMID:26601948   PMID:26876099   PMID:27561390   PMID:27725184   PMID:28319114   PMID:28492230   PMID:28514442   PMID:29176319   PMID:29907875   PMID:29997244   PMID:30021006   PMID:30454887  
PMID:31091453   PMID:31515488   PMID:31638258   PMID:31671219   PMID:32003754   PMID:32296183   PMID:32453962   PMID:32513696   PMID:32814053  


Genomics

Comparative Map Data
STAMBP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl273,828,916 - 73,873,659 (+)EnsemblGRCh38hg38GRCh38
GRCh38273,828,911 - 73,873,656 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37274,056,088 - 74,100,783 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36273,909,594 - 73,943,519 (+)NCBINCBI36hg18NCBI36
Celera273,887,352 - 73,921,265 (+)NCBI
Cytogenetic Map2p13.1NCBI
HuRef273,791,345 - 73,829,114 (+)NCBIHuRef
CHM1_1273,985,403 - 74,023,636 (+)NCBICHM1_1
Stambp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39683,520,188 - 83,552,781 (-)NCBIGRCm39mm39
GRCm39 Ensembl683,520,193 - 83,549,711 (-)Ensembl
GRCm38683,543,206 - 83,575,826 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl683,543,211 - 83,572,729 (-)EnsemblGRCm38mm10GRCm38
MGSCv37683,493,200 - 83,522,498 (-)NCBIGRCm37mm9NCBIm37
MGSCv36683,508,864 - 83,538,093 (-)NCBImm8
Celera685,524,336 - 85,552,555 (-)NCBICelera
Cytogenetic Map6C3NCBI
Stambp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24116,055,563 - 116,083,563 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl4115,249,351 - 115,275,068 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.04115,249,343 - 115,277,340 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04179,839,851 - 179,867,468 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44117,766,905 - 117,791,399 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.14118,011,387 - 118,035,880 (-)NCBI
Celera4105,049,309 - 105,073,789 (-)NCBICelera
Cytogenetic Map4q34NCBI
Stambp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542411,831,361 - 11,879,577 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542411,831,910 - 11,879,577 (-)NCBIChiLan1.0ChiLan1.0
STAMBP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A75,410,352 - 75,451,082 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A75,410,434 - 75,451,086 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A73,900,128 - 73,936,571 (+)NCBIMhudiblu_PPA_v0panPan3
LOC100684058
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11749,194,810 - 49,221,017 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1749,195,101 - 49,221,013 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1748,838,657 - 48,864,889 (-)NCBI
ROS_Cfam_1.01750,056,958 - 50,083,265 (-)NCBI
UMICH_Zoey_3.11749,073,147 - 49,099,470 (-)NCBI
UNSW_CanFamBas_1.01749,140,501 - 49,166,821 (-)NCBI
UU_Cfam_GSD_1.01749,699,497 - 49,725,831 (-)NCBI
LOC101962200
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629210,563,513 - 10,594,463 (-)NCBI
SpeTri2.0NW_004936556143,483 - 174,383 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STAMBP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl369,133,978 - 69,188,182 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1369,156,012 - 69,188,256 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2372,359,731 - 72,389,751 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103220046
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11433,417,342 - 33,453,507 (-)NCBI
ChlSab1.1 Ensembl1433,416,821 - 33,451,593 (-)Ensembl
Vero_WHO_p1.0NW_02366604578,714,497 - 78,750,436 (+)NCBI
Stambp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474929,630,847 - 29,667,611 (-)NCBI

Position Markers
D12S1222E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712120,532,058 - 120,532,253UniSTSGRCh37
GRCh37274,063,172 - 74,063,363UniSTSGRCh37
Build 36273,916,680 - 73,916,871RGDNCBI36
Celera12120,165,171 - 120,165,366UniSTS
Celera273,894,424 - 73,894,615RGD
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map12q24.23UniSTS
HuRef12117,541,169 - 117,541,364UniSTS
HuRef273,798,483 - 73,798,674UniSTS
RH81009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,089,771 - 74,089,992UniSTSGRCh37
Build 36273,943,279 - 73,943,500RGDNCBI36
Celera273,921,025 - 73,921,246RGD
Cytogenetic Map2p13.1UniSTS
HuRef273,824,591 - 73,824,812UniSTS
GeneMap99-GB4 RH Map2228.74UniSTS
SHGC-78733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,083,910 - 74,084,185UniSTSGRCh37
Build 36273,937,418 - 73,937,693RGDNCBI36
Celera273,915,164 - 73,915,439RGD
Cytogenetic Map2p13.1UniSTS
HuRef273,818,789 - 73,819,064UniSTS
TNG Radiation Hybrid Map247579.0UniSTS
SHGC-82024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,076,341 - 74,076,564UniSTSGRCh37
Build 36273,929,849 - 73,930,072RGDNCBI36
Celera273,907,593 - 73,907,816RGD
Cytogenetic Map2p13.1UniSTS
HuRef273,811,650 - 73,811,873UniSTS
TNG Radiation Hybrid Map247587.0UniSTS
STAMBP_1334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,089,411 - 74,090,158UniSTSGRCh37
Build 36273,942,919 - 73,943,666RGDNCBI36
Celera273,920,665 - 73,921,412RGD
HuRef273,824,231 - 73,824,977UniSTS
WI-12512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,094,148 - 74,094,276UniSTSGRCh37
Build 36273,947,656 - 73,947,784RGDNCBI36
Celera273,925,402 - 73,925,530RGD
Cytogenetic Map2p13.1UniSTS
HuRef273,828,967 - 73,829,095UniSTS
GeneMap99-GB4 RH Map2227.43UniSTS
Whitehead-RH Map2315.8UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3616
Count of miRNA genes:1285
Interacting mature miRNAs:1644
Transcripts:ENST00000339566, ENST00000394070, ENST00000394073, ENST00000409707, ENST00000424659, ENST00000432295, ENST00000452725, ENST00000478946, ENST00000486458, ENST00000487811, ENST00000536064
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 980 1250 779 190 854 101 3222 679 1514 274 1316 1140 106 1 379 2103 5 2
Low 1459 1733 947 434 1093 364 1135 1514 2219 145 144 473 69 825 685 1
Below cutoff 8 4 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_213622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC073046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX100575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF203378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM478027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ929694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX758449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB477012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN919763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR158757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU927390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U73522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000339566   ⟹   ENSP00000344742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,916 - 73,867,168 (+)Ensembl
RefSeq Acc Id: ENST00000394070   ⟹   ENSP00000377633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,961 - 73,867,168 (+)Ensembl
RefSeq Acc Id: ENST00000394073   ⟹   ENSP00000377636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,987 - 73,867,168 (+)Ensembl
RefSeq Acc Id: ENST00000409707   ⟹   ENSP00000386548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,962 - 73,873,633 (+)Ensembl
RefSeq Acc Id: ENST00000424659   ⟹   ENSP00000390921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,990 - 73,847,501 (+)Ensembl
RefSeq Acc Id: ENST00000432295   ⟹   ENSP00000413874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,987 - 73,850,462 (+)Ensembl
RefSeq Acc Id: ENST00000452725   ⟹   ENSP00000413291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,967 - 73,847,423 (+)Ensembl
RefSeq Acc Id: ENST00000478946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,844,634 - 73,849,451 (+)Ensembl
RefSeq Acc Id: ENST00000486458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,850,375 - 73,862,806 (+)Ensembl
RefSeq Acc Id: ENST00000487811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,860,077 - 73,873,659 (+)Ensembl
RefSeq Acc Id: ENST00000536064   ⟹   ENSP00000443502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,829,031 - 73,849,488 (+)Ensembl
RefSeq Acc Id: ENST00000682105   ⟹   ENSP00000507182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,829,028 - 73,855,944 (+)Ensembl
RefSeq Acc Id: ENST00000682157   ⟹   ENSP00000507848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,918 - 73,862,817 (+)Ensembl
RefSeq Acc Id: ENST00000682271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,858,192 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000682329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,940 - 73,862,873 (+)Ensembl
RefSeq Acc Id: ENST00000682351   ⟹   ENSP00000506833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,990 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000682352   ⟹   ENSP00000508197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,967 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000682379   ⟹   ENSP00000507081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,987 - 73,873,659 (+)Ensembl
RefSeq Acc Id: ENST00000682387   ⟹   ENSP00000508186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,829,028 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000682423   ⟹   ENSP00000507643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,976 - 73,873,659 (+)Ensembl
RefSeq Acc Id: ENST00000682558   ⟹   ENSP00000507014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,829,099 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000682592   ⟹   ENSP00000508170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,967 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000682683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,940 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000682747
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,829,028 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000682784   ⟹   ENSP00000507523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,989 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000682799   ⟹   ENSP00000507089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,983 - 73,862,866 (+)Ensembl
RefSeq Acc Id: ENST00000682847   ⟹   ENSP00000507864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,918 - 73,873,618 (+)Ensembl
RefSeq Acc Id: ENST00000682848   ⟹   ENSP00000506775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,987 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000682851   ⟹   ENSP00000507371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,943 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000682998   ⟹   ENSP00000507046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,983 - 73,856,110 (+)Ensembl
RefSeq Acc Id: ENST00000683016   ⟹   ENSP00000508373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,983 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,987 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683036   ⟹   ENSP00000507639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,918 - 73,873,544 (+)Ensembl
RefSeq Acc Id: ENST00000683149   ⟹   ENSP00000507540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,943 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,989 - 73,862,873 (+)Ensembl
RefSeq Acc Id: ENST00000683247   ⟹   ENSP00000507237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,930 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683304   ⟹   ENSP00000508114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,987 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,844,634 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683317   ⟹   ENSP00000507092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,918 - 73,873,601 (+)Ensembl
RefSeq Acc Id: ENST00000683349   ⟹   ENSP00000507807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,918 - 73,862,806 (+)Ensembl
RefSeq Acc Id: ENST00000683391   ⟹   ENSP00000506772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,829,033 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,869,707 - 73,873,618 (+)Ensembl
RefSeq Acc Id: ENST00000683417   ⟹   ENSP00000507770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,829,028 - 73,873,645 (+)Ensembl
RefSeq Acc Id: ENST00000683434   ⟹   ENSP00000507622
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,967 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683465
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,978 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683518   ⟹   ENSP00000506865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,967 - 73,873,635 (+)Ensembl
RefSeq Acc Id: ENST00000683530   ⟹   ENSP00000506920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,987 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683582   ⟹   ENSP00000506892
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,829,023 - 73,862,547 (+)Ensembl
RefSeq Acc Id: ENST00000683594   ⟹   ENSP00000507459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,829,028 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683718   ⟹   ENSP00000507037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,967 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683728   ⟹   ENSP00000507079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,961 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683818   ⟹   ENSP00000507658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,991 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683852   ⟹   ENSP00000507717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,987 - 73,873,601 (+)Ensembl
RefSeq Acc Id: ENST00000683877   ⟹   ENSP00000507446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,987 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683902   ⟹   ENSP00000507096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,830,857 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000683928   ⟹   ENSP00000507241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,829,031 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000684095   ⟹   ENSP00000506845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,918 - 73,873,645 (+)Ensembl
RefSeq Acc Id: ENST00000684174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,983 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000684200   ⟹   ENSP00000507468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,976 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000684312   ⟹   ENSP00000506958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,987 - 73,873,645 (+)Ensembl
RefSeq Acc Id: ENST00000684321   ⟹   ENSP00000507156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,987 - 73,873,497 (+)Ensembl
RefSeq Acc Id: ENST00000684337   ⟹   ENSP00000508310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,922 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000684355   ⟹   ENSP00000507974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,976 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000684426   ⟹   ENSP00000507614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,829,015 - 73,862,785 (+)Ensembl
RefSeq Acc Id: ENST00000684585   ⟹   ENSP00000507054
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,967 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000684671   ⟹   ENSP00000507882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,987 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000684697   ⟹   ENSP00000506855
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,967 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000684703   ⟹   ENSP00000507569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,983 - 73,862,872 (+)Ensembl
RefSeq Acc Id: ENST00000684716   ⟹   ENSP00000508172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,983 - 73,873,601 (+)Ensembl
RefSeq Acc Id: ENST00000684758   ⟹   ENSP00000507279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,829,037 - 73,867,152 (+)Ensembl
RefSeq Acc Id: ENST00000684774   ⟹   ENSP00000508267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl273,828,976 - 73,867,152 (+)Ensembl
RefSeq Acc Id: NM_001353967   ⟹   NP_001340896
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,867,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353968   ⟹   NP_001340897
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,867,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353969   ⟹   NP_001340898
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,867,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353970   ⟹   NP_001340899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,867,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353971   ⟹   NP_001340900
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,867,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353972   ⟹   NP_001340901
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,867,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353973   ⟹   NP_001340902
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,867,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353974   ⟹   NP_001340903
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,867,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353975   ⟹   NP_001340904
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,867,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353976   ⟹   NP_001340905
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,867,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006463   ⟹   NP_006454
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,867,168 (+)NCBI
GRCh37274,056,043 - 74,100,783 (+)NCBI
Build 36273,909,635 - 73,943,519 (+)NCBI Archive
HuRef273,791,345 - 73,829,114 (+)ENTREZGENE
CHM1_1273,985,474 - 74,023,636 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201647   ⟹   NP_964010
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,867,168 (+)NCBI
GRCh37274,056,043 - 74,100,783 (+)NCBI
Build 36273,909,594 - 73,943,519 (+)NCBI Archive
HuRef273,791,345 - 73,829,114 (+)ENTREZGENE
CHM1_1273,985,403 - 74,023,636 (+)NCBI
Sequence:
RefSeq Acc Id: NM_213622   ⟹   NP_998787
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,867,168 (+)NCBI
GRCh37274,056,043 - 74,100,783 (+)NCBI
Build 36273,909,655 - 73,943,519 (+)NCBI Archive
HuRef273,791,345 - 73,829,114 (+)ENTREZGENE
CHM1_1273,985,485 - 74,023,636 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148668
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,873,656 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148669
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,873,656 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148670
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,873,656 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148671
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,961 - 73,873,656 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532483   ⟹   XP_011530785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,989 - 73,873,656 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532485   ⟹   XP_011530787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,989 - 73,853,373 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452533   ⟹   XP_024308301
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,911 - 73,873,656 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452534   ⟹   XP_024308302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,828,966 - 73,862,884 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001340896 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340897 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340898 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340899 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340900 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340901 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340902 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340903 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340904 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340905 (Get FASTA)   NCBI Sequence Viewer  
  NP_006454 (Get FASTA)   NCBI Sequence Viewer  
  NP_964010 (Get FASTA)   NCBI Sequence Viewer  
  NP_998787 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530785 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530787 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308301 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308302 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD05037 (Get FASTA)   NCBI Sequence Viewer  
  AAH07682 (Get FASTA)   NCBI Sequence Viewer  
  AAH65574 (Get FASTA)   NCBI Sequence Viewer  
  AAI01468 (Get FASTA)   NCBI Sequence Viewer  
  AAI01470 (Get FASTA)   NCBI Sequence Viewer  
  AAX88908 (Get FASTA)   NCBI Sequence Viewer  
  ACH57452 (Get FASTA)   NCBI Sequence Viewer  
  AEE61191 (Get FASTA)   NCBI Sequence Viewer  
  CAC36455 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43357 (Get FASTA)   NCBI Sequence Viewer  
  EAW99714 (Get FASTA)   NCBI Sequence Viewer  
  EAW99715 (Get FASTA)   NCBI Sequence Viewer  
  EAW99716 (Get FASTA)   NCBI Sequence Viewer  
  O95630 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_964010   ⟸   NM_201647
- Peptide Label: isoform 1
- UniProtKB: O95630 (UniProtKB/Swiss-Prot),   A0A140VK54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006454   ⟸   NM_006463
- Peptide Label: isoform 1
- UniProtKB: O95630 (UniProtKB/Swiss-Prot),   A0A140VK54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_998787   ⟸   NM_213622
- Peptide Label: isoform 1
- UniProtKB: O95630 (UniProtKB/Swiss-Prot),   A0A140VK54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530785   ⟸   XM_011532483
- Peptide Label: isoform X1
- UniProtKB: O95630 (UniProtKB/Swiss-Prot),   A0A140VK54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530787   ⟸   XM_011532485
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024308301   ⟸   XM_024452533
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001340902   ⟸   NM_001353973
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001340896   ⟸   NM_001353967
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001340900   ⟸   NM_001353971
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001340898   ⟸   NM_001353969
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001340901   ⟸   NM_001353972
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: XP_024308302   ⟸   XM_024452534
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001340905   ⟸   NM_001353976
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001340903   ⟸   NM_001353974
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001340904   ⟸   NM_001353975
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001340899   ⟸   NM_001353970
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001340897   ⟸   NM_001353968
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: ENSP00000390921   ⟸   ENST00000424659
RefSeq Acc Id: ENSP00000413291   ⟸   ENST00000452725
RefSeq Acc Id: ENSP00000344742   ⟸   ENST00000339566
RefSeq Acc Id: ENSP00000443502   ⟸   ENST00000536064
RefSeq Acc Id: ENSP00000413874   ⟸   ENST00000432295
RefSeq Acc Id: ENSP00000377636   ⟸   ENST00000394073
RefSeq Acc Id: ENSP00000377633   ⟸   ENST00000394070
RefSeq Acc Id: ENSP00000386548   ⟸   ENST00000409707
RefSeq Acc Id: ENSP00000507540   ⟸   ENST00000683149
RefSeq Acc Id: ENSP00000507569   ⟸   ENST00000684703
RefSeq Acc Id: ENSP00000507974   ⟸   ENST00000684355
RefSeq Acc Id: ENSP00000507096   ⟸   ENST00000683902
RefSeq Acc Id: ENSP00000507237   ⟸   ENST00000683247
RefSeq Acc Id: ENSP00000507014   ⟸   ENST00000682558
RefSeq Acc Id: ENSP00000506772   ⟸   ENST00000683391
RefSeq Acc Id: ENSP00000507882   ⟸   ENST00000684671
RefSeq Acc Id: ENSP00000507807   ⟸   ENST00000683349
RefSeq Acc Id: ENSP00000507279   ⟸   ENST00000684758
RefSeq Acc Id: ENSP00000507081   ⟸   ENST00000682379
RefSeq Acc Id: ENSP00000506845   ⟸   ENST00000684095
RefSeq Acc Id: ENSP00000508197   ⟸   ENST00000682352
RefSeq Acc Id: ENSP00000507092   ⟸   ENST00000683317
RefSeq Acc Id: ENSP00000508310   ⟸   ENST00000684337
RefSeq Acc Id: ENSP00000508186   ⟸   ENST00000682387
RefSeq Acc Id: ENSP00000507037   ⟸   ENST00000683718
RefSeq Acc Id: ENSP00000507639   ⟸   ENST00000683036
RefSeq Acc Id: ENSP00000506865   ⟸   ENST00000683518
RefSeq Acc Id: ENSP00000507643   ⟸   ENST00000682423
RefSeq Acc Id: ENSP00000508114   ⟸   ENST00000683304
RefSeq Acc Id: ENSP00000507622   ⟸   ENST00000683434
RefSeq Acc Id: ENSP00000508172   ⟸   ENST00000684716
RefSeq Acc Id: ENSP00000507079   ⟸   ENST00000683728
RefSeq Acc Id: ENSP00000506855   ⟸   ENST00000684697
RefSeq Acc Id: ENSP00000507459   ⟸   ENST00000683594
RefSeq Acc Id: ENSP00000507446   ⟸   ENST00000683877
RefSeq Acc Id: ENSP00000506958   ⟸   ENST00000684312
RefSeq Acc Id: ENSP00000507770   ⟸   ENST00000683417
RefSeq Acc Id: ENSP00000508170   ⟸   ENST00000682592
RefSeq Acc Id: ENSP00000507182   ⟸   ENST00000682105
RefSeq Acc Id: ENSP00000507054   ⟸   ENST00000684585
RefSeq Acc Id: ENSP00000507241   ⟸   ENST00000683928
RefSeq Acc Id: ENSP00000507864   ⟸   ENST00000682847
RefSeq Acc Id: ENSP00000507468   ⟸   ENST00000684200
RefSeq Acc Id: ENSP00000507089   ⟸   ENST00000682799
RefSeq Acc Id: ENSP00000508267   ⟸   ENST00000684774
RefSeq Acc Id: ENSP00000507156   ⟸   ENST00000684321
RefSeq Acc Id: ENSP00000507658   ⟸   ENST00000683818
RefSeq Acc Id: ENSP00000507717   ⟸   ENST00000683852
RefSeq Acc Id: ENSP00000507614   ⟸   ENST00000684426
RefSeq Acc Id: ENSP00000507046   ⟸   ENST00000682998
RefSeq Acc Id: ENSP00000507848   ⟸   ENST00000682157
RefSeq Acc Id: ENSP00000506892   ⟸   ENST00000683582
RefSeq Acc Id: ENSP00000506833   ⟸   ENST00000682351
RefSeq Acc Id: ENSP00000506920   ⟸   ENST00000683530
RefSeq Acc Id: ENSP00000507523   ⟸   ENST00000682784
RefSeq Acc Id: ENSP00000508373   ⟸   ENST00000683016
RefSeq Acc Id: ENSP00000507371   ⟸   ENST00000682851
RefSeq Acc Id: ENSP00000506775   ⟸   ENST00000682848
Protein Domains
MPN   USP8_dimer

Promoters
RGD ID:6860704
Promoter ID:EPDNEW_H3517
Type:initiation region
Name:STAMBP_1
Description:STAM binding protein
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
GRCh38273,828,961 - 73,829,021EPDNEW
RGD ID:6798270
Promoter ID:HG_KWN:33277
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006463,   NM_201647,   OTTHUMT00000252048,   OTTHUMT00000328095,   OTTHUMT00000328096,   OTTHUMT00000328097,   UC002SJT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36273,909,314 - 73,909,814 (+)MPROMDB
RGD ID:6798273
Promoter ID:HG_KWN:33281
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000328101
Position:
Human AssemblyChrPosition (strand)Source
Build 36273,940,361 - 73,940,861 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_213622.4(STAMBP):c.411del (p.Ile138fs) deletion Microcephaly-capillary malformation syndrome [RCV000043578] Chr2:73847421 [GRCh38]
Chr2:74074548 [GRCh37]
Chr2:2p13.1
pathogenic
NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly) single nucleotide variant Microcephaly-capillary malformation syndrome [RCV000043572] Chr2:73830981 [GRCh38]
Chr2:74058108 [GRCh37]
Chr2:2p13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_213622.4(STAMBP):c.532C>T (p.Arg178Ter) single nucleotide variant Microcephaly-capillary malformation syndrome [RCV000043573] Chr2:73847543 [GRCh38]
Chr2:74074670 [GRCh37]
Chr2:2p13.1
pathogenic
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) single nucleotide variant Microcephaly-capillary malformation syndrome [RCV000043574]|not provided [RCV000426675] Chr2:73830968 [GRCh38]
Chr2:74058095 [GRCh37]
Chr2:2p13.1
pathogenic|likely pathogenic
NM_213622.4(STAMBP):c.279+5G>T single nucleotide variant Microcephaly-capillary malformation syndrome [RCV000043575]|not provided [RCV000522284] Chr2:73844893 [GRCh38]
Chr2:74072020 [GRCh37]
Chr2:2p13.1
pathogenic|likely pathogenic
NM_213622.4(STAMBP):c.1270C>T (p.Arg424Ter) single nucleotide variant Microcephaly-capillary malformation syndrome [RCV000043576]|not provided [RCV000725319] Chr2:73862254 [GRCh38]
Chr2:74089381 [GRCh37]
Chr2:2p13.1
pathogenic
NM_213622.4(STAMBP):c.299T>A (p.Phe100Tyr) single nucleotide variant Microcephaly-capillary malformation syndrome [RCV000043577] Chr2:73845186 [GRCh38]
Chr2:74072313 [GRCh37]
Chr2:2p13.1
pathogenic
NM_213622.4(STAMBP):c.1218+12T>C single nucleotide variant not provided [RCV001522134]|not specified [RCV000147670] Chr2:73860163 [GRCh38]
Chr2:74087290 [GRCh37]
Chr2:2p13.1
benign|likely benign
NM_213622.4(STAMBP):c.1218+20A>G single nucleotide variant not provided [RCV001522439]|not specified [RCV000147671] Chr2:73860171 [GRCh38]
Chr2:74087298 [GRCh37]
Chr2:2p13.1
benign|likely benign
NM_213622.4(STAMBP):c.1230C>T (p.His410=) single nucleotide variant Microcephaly-capillary malformation syndrome [RCV000147672] Chr2:73862214 [GRCh38]
Chr2:74089341 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_213622.4(STAMBP):c.1259_1261del (p.Ile420del) deletion Microcephaly-capillary malformation syndrome [RCV000147673] Chr2:73862241..73862243 [GRCh38]
Chr2:74089368..74089370 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_213622.4(STAMBP):c.12T>C (p.His4=) single nucleotide variant not provided [RCV001517693]|not specified [RCV000147674] Chr2:73830868 [GRCh38]
Chr2:74057995 [GRCh37]
Chr2:2p13.1
benign|likely benign
NM_213622.4(STAMBP):c.499G>A (p.Glu167Lys) single nucleotide variant Microcephaly-capillary malformation syndrome [RCV000147675]|not provided [RCV000901879] Chr2:73847510 [GRCh38]
Chr2:74074637 [GRCh37]
Chr2:2p13.1
likely benign|uncertain significance
NM_213622.4(STAMBP):c.921G>T (p.Gly307=) single nucleotide variant not provided [RCV001519786]|not specified [RCV000147676] Chr2:73850429 [GRCh38]
Chr2:74077556 [GRCh37]
Chr2:2p13.1
benign|likely benign
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
NM_213622.4(STAMBP):c.1172G>C (p.Arg391Pro) single nucleotide variant not specified [RCV000193879] Chr2:73860105 [GRCh38]
Chr2:74087232 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_213622.4(STAMBP):c.997T>G (p.Trp333Gly) single nucleotide variant not specified [RCV000194917] Chr2:73850505 [GRCh38]
Chr2:74077632 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_213622.4(STAMBP):c.1119-6T>G single nucleotide variant Microcephaly-capillary malformation syndrome [RCV000192826] Chr2:73860046 [GRCh38]
Chr2:74087173 [GRCh37]
Chr2:2p13.1
likely pathogenic
NM_213622.4(STAMBP):c.106_108delinsAA (p.Tyr36fs) indel not provided [RCV000363268] Chr2:73830962..73830964 [GRCh38]
Chr2:74058089..74058091 [GRCh37]
Chr2:2p13.1
pathogenic
NM_213622.4(STAMBP):c.362A>T (p.Tyr121Phe) single nucleotide variant not provided [RCV000488376] Chr2:73845249 [GRCh38]
Chr2:74072376 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_213622.4(STAMBP):c.503_524del (p.Met168fs) deletion not provided [RCV000599156] Chr2:73847511..73847532 [GRCh38]
Chr2:74074638..74074659 [GRCh37]
Chr2:2p13.1
pathogenic
GRCh37/hg19 2p13.2-13.1(chr2:73477212-74065941)x1 copy number loss See cases [RCV000448067] Chr2:73477212..74065941 [GRCh37]
Chr2:2p13.2-13.1
uncertain significance
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2
pathogenic
NM_213622.4(STAMBP):c.230A>G (p.His77Arg) single nucleotide variant not provided [RCV000480964] Chr2:73844839 [GRCh38]
Chr2:74071966 [GRCh37]
Chr2:2p13.1
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_213622.4(STAMBP):c.932G>T (p.Cys311Phe) single nucleotide variant not provided [RCV000479666] Chr2:73850440 [GRCh38]
Chr2:74077567 [GRCh37]
Chr2:2p13.1
likely pathogenic
NM_213622.4(STAMBP):c.938C>T (p.Thr313Ile) single nucleotide variant not provided [RCV000487330] Chr2:73850446 [GRCh38]
Chr2:74077573 [GRCh37]
Chr2:2p13.1
pathogenic
NM_213622.4(STAMBP):c.649C>T (p.Gln217Ter) single nucleotide variant Microcephaly-capillary malformation syndrome [RCV000503679] Chr2:73847660 [GRCh38]
Chr2:74074787 [GRCh37]
Chr2:2p13.1
pathogenic
NM_213622.4(STAMBP):c.764G>A (p.Arg255His) single nucleotide variant not provided [RCV000893127]|not specified [RCV000499427] Chr2:73849384 [GRCh38]
Chr2:74076511 [GRCh37]
Chr2:2p13.1
benign|uncertain significance
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_213622.4(STAMBP):c.707C>T (p.Ser236Phe) single nucleotide variant Microcephaly-capillary malformation syndrome [RCV000656661] Chr2:73847718 [GRCh38]
Chr2:74074845 [GRCh37]
Chr2:2p13.1
pathogenic
Single allele duplication not provided [RCV000677942] Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2
pathogenic
NM_213622.4(STAMBP):c.946G>A (p.Glu316Lys) single nucleotide variant Microcephaly-capillary malformation syndrome [RCV001004761] Chr2:73850454 [GRCh38]
Chr2:74077581 [GRCh37]
Chr2:2p13.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_213622.4(STAMBP):c.1005T>C (p.His335=) single nucleotide variant not provided [RCV000925636] Chr2:73850513 [GRCh38]
Chr2:74077640 [GRCh37]
Chr2:2p13.1
likely benign
NM_213622.4(STAMBP):c.891C>T (p.Thr297=) single nucleotide variant not provided [RCV000901324] Chr2:73850399 [GRCh38]
Chr2:74077526 [GRCh37]
Chr2:2p13.1
likely benign
NM_213622.4(STAMBP):c.465G>T (p.Gln155His) single nucleotide variant not provided [RCV000895978] Chr2:73847476 [GRCh38]
Chr2:74074603 [GRCh37]
Chr2:2p13.1
likely benign
NM_213622.4(STAMBP):c.183C>T (p.Ile61=) single nucleotide variant not provided [RCV000883037] Chr2:73831039 [GRCh38]
Chr2:74058166 [GRCh37]
Chr2:2p13.1
likely benign
NM_213622.4(STAMBP):c.785G>A (p.Arg262Gln) single nucleotide variant not provided [RCV000974913] Chr2:73849405 [GRCh38]
Chr2:74076532 [GRCh37]
Chr2:2p13.1
likely benign
NM_213622.4(STAMBP):c.376-4G>A single nucleotide variant not provided [RCV000897636] Chr2:73847383 [GRCh38]
Chr2:74074510 [GRCh37]
Chr2:2p13.1
benign
NM_213622.4(STAMBP):c.33C>T (p.Pro11=) single nucleotide variant not provided [RCV000887688] Chr2:73830889 [GRCh38]
Chr2:74058016 [GRCh37]
Chr2:2p13.1
likely benign
NM_213622.4(STAMBP):c.232C>T (p.Arg78Ter) single nucleotide variant not provided [RCV001008704] Chr2:73844841 [GRCh38]
Chr2:74071968 [GRCh37]
Chr2:2p13.1
likely pathogenic
NM_213622.4(STAMBP):c.418C>T (p.Gln140Ter) single nucleotide variant not provided [RCV001038428] Chr2:73847429 [GRCh38]
Chr2:74074556 [GRCh37]
Chr2:2p13.1
pathogenic
NM_213622.4(STAMBP):c.218A>G (p.Lys73Arg) single nucleotide variant Microcephaly-capillary malformation syndrome [RCV001336967] Chr2:73844827 [GRCh38]
Chr2:74071954 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_213622.4(STAMBP):c.475C>G (p.Gln159Glu) single nucleotide variant Microcephaly-capillary malformation syndrome [RCV001336968] Chr2:73847486 [GRCh38]
Chr2:74074613 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_213622.4(STAMBP):c.843_844del (p.Cys282fs) deletion Microcephaly-capillary malformation syndrome [RCV001336969] Chr2:73849463..73849464 [GRCh38]
Chr2:74076590..74076591 [GRCh37]
Chr2:2p13.1
pathogenic
NM_213622.4(STAMBP):c.1119-10_1119-9insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGTATTGATTTT microsatellite not provided [RCV001295580] Chr2:73860038..73860039 [GRCh38]
Chr2:74087165..74087166 [GRCh37]
Chr2:2p13.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16950 AgrOrtholog
COSMIC STAMBP COSMIC
Ensembl Genes ENSG00000124356 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000344742 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377633 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377636 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386548 UniProtKB/Swiss-Prot
  ENSP00000390921 UniProtKB/TrEMBL
  ENSP00000413291 UniProtKB/TrEMBL
  ENSP00000413874 UniProtKB/TrEMBL
  ENSP00000443502 UniProtKB/TrEMBL
  ENSP00000506833 ENTREZGENE
  ENSP00000507046 ENTREZGENE
  ENSP00000507054 ENTREZGENE
  ENSP00000507081 ENTREZGENE
  ENSP00000507089 ENTREZGENE
  ENSP00000507371 ENTREZGENE
  ENSP00000507643 ENTREZGENE
  ENSP00000507807 ENTREZGENE
Ensembl Transcript ENST00000339566 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394070 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394073 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409707 UniProtKB/Swiss-Prot
  ENST00000424659 UniProtKB/TrEMBL
  ENST00000432295 UniProtKB/TrEMBL
  ENST00000452725 UniProtKB/TrEMBL
  ENST00000478946 ENTREZGENE
  ENST00000536064 UniProtKB/TrEMBL
  ENST00000682351 ENTREZGENE
  ENST00000682379 ENTREZGENE
  ENST00000682423 ENTREZGENE
  ENST00000682799 ENTREZGENE
  ENST00000682851 ENTREZGENE
  ENST00000682998 ENTREZGENE
  ENST00000683349 ENTREZGENE
  ENST00000683417 ENTREZGENE
  ENST00000683465 ENTREZGENE
  ENST00000684585 ENTREZGENE
GTEx ENSG00000124356 GTEx
HGNC ID HGNC:16950 ENTREZGENE
Human Proteome Map STAMBP Human Proteome Map
InterPro JAMM/MPN+_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MPN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAMBP/STALP-like_MPN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP8_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10617 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10617 ENTREZGENE
OMIM 606247 OMIM
  614261 OMIM
Pfam JAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP8_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134955569 PharmGKB
PROSITE MPN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART JAB_MPN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VK54 ENTREZGENE, UniProtKB/TrEMBL
  C9JEK5_HUMAN UniProtKB/TrEMBL
  C9JK83_HUMAN UniProtKB/TrEMBL
  C9JZ93_HUMAN UniProtKB/TrEMBL
  F5H5B9_HUMAN UniProtKB/TrEMBL
  L8ECD1_HUMAN UniProtKB/TrEMBL
  O95630 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B5M0B6 UniProtKB/Swiss-Prot
  D6W5H7 UniProtKB/Swiss-Prot
  Q3MJE7 UniProtKB/Swiss-Prot