SEPTIN10 (septin 10) - Rat Genome Database
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Gene: SEPTIN10 (septin 10) Homo sapiens
Analyze
Symbol: SEPTIN10
Name: septin 10
RGD ID: 1606447
HGNC Page HGNC
Description: Predicted to have GTPase activity and molecular adaptor activity. Predicted to be involved in cellular protein localization and cytoskeleton-dependent cytokinesis. Predicted to localize to cell division site and cytoskeleton.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ11619; sept1-like; SEPT10; septin-10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SEPTIN10P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2109,542,799 - 109,614,143 (-)EnsemblGRCh38hg38GRCh38
GRCh382109,542,797 - 109,614,205 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372110,300,372 - 110,371,783 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362109,657,665 - 109,729,072 (-)NCBINCBI36hg18NCBI36
Celera2104,469,162 - 104,540,564 (-)NCBI
Cytogenetic Map2q13NCBI
HuRef2103,756,363 - 103,827,838 (-)NCBIHuRef
CHM1_12110,304,564 - 110,375,972 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:12475938   PMID:12477932   PMID:12711328   PMID:14702039   PMID:15489334   PMID:15815621   PMID:17207965   PMID:17657217   PMID:19531213   PMID:20195767   PMID:21145461   PMID:21873635  
PMID:21988832   PMID:22320903   PMID:22863883   PMID:22939629   PMID:25416956   PMID:26038121   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26673895   PMID:28514442   PMID:29467281  
PMID:29615496   PMID:30021884   PMID:31586073   PMID:31980649   PMID:32296183   PMID:32780723  


Genomics

Comparative Map Data
SEPTIN10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2109,542,799 - 109,614,143 (-)EnsemblGRCh38hg38GRCh38
GRCh382109,542,797 - 109,614,205 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372110,300,372 - 110,371,783 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362109,657,665 - 109,729,072 (-)NCBINCBI36hg18NCBI36
Celera2104,469,162 - 104,540,564 (-)NCBI
Cytogenetic Map2q13NCBI
HuRef2103,756,363 - 103,827,838 (-)NCBIHuRef
CHM1_12110,304,564 - 110,375,972 (-)NCBICHM1_1
Septin10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391058,977,446 - 59,057,322 (-)NCBIGRCm39mm39
GRCm381059,141,624 - 59,221,500 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1059,141,627 - 59,221,847 (-)EnsemblGRCm38mm10GRCm38
MGSCv371058,604,375 - 58,684,595 (-)NCBIGRCm37mm9NCBIm37
MGSCv361058,536,984 - 58,617,204 (-)NCBImm8
Celera1060,241,609 - 60,322,010 (-)NCBICelera
Cytogenetic Map10B4NCBI
Septin10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02028,722,479 - 28,814,841 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2028,722,580 - 28,814,636 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02030,530,090 - 30,621,453 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2028,545,123 - 28,637,169 (-)NCBICelera
Cytogenetic Map20q11NCBI
Septin10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547012,647,082 - 12,697,616 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547012,647,145 - 12,697,616 (-)NCBIChiLan1.0ChiLan1.0
SEPTIN10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A111,260,194 - 111,309,575 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A111,260,194 - 111,312,188 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A92,027,518 - 92,099,302 (+)NCBIMhudiblu_PPA_v0panPan3
SEPTIN10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1034,247,773 - 34,304,756 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11034,248,173 - 34,304,888 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Septin10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049368291,024,201 - 1,064,091 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEPTIN10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl346,483,495 - 46,546,767 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1346,484,138 - 46,546,677 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2347,791,172 - 47,831,289 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SEPTIN10
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11413,069,840 - 13,139,429 (-)NCBI
ChlSab1.1 Ensembl1413,069,671 - 13,139,037 (-)Ensembl
Septin10
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474912,336,540 - 12,392,848 (-)NCBI

Position Markers
SHGC-81707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372110,344,120 - 110,344,438UniSTSGRCh37
Build 362109,701,409 - 109,701,727RGDNCBI36
Celera2104,512,903 - 104,513,221RGD
Cytogenetic Map2q13UniSTS
HuRef2103,800,115 - 103,800,433UniSTS
TNG Radiation Hybrid Map2128847.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3113
Count of miRNA genes:936
Interacting mature miRNAs:1078
Transcripts:ENST00000334001, ENST00000356688, ENST00000397712, ENST00000397714, ENST00000411469, ENST00000415095, ENST00000423520, ENST00000425498, ENST00000437928, ENST00000442746, ENST00000461295, ENST00000468616, ENST00000483047, ENST00000486678, ENST00000493445, ENST00000545389
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 2388 1965 1518 560 705 402 4148 1760 1508 377 1426 1586 171 1203 2581 4
Low 51 651 205 64 681 63 209 433 2223 42 34 20 4 1 1 207 2 2
Below cutoff 375 2 463 2 2 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001321496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC140485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF316880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000356688   ⟹   ENSP00000349116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,542,982 - 109,614,143 (-)Ensembl
RefSeq Acc Id: ENST00000397712   ⟹   ENSP00000380824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,542,799 - 109,613,966 (-)Ensembl
RefSeq Acc Id: ENST00000397714   ⟹   ENSP00000380826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,542,986 - 109,613,927 (-)Ensembl
RefSeq Acc Id: ENST00000411469   ⟹   ENSP00000396051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,585,720 - 109,613,504 (-)Ensembl
RefSeq Acc Id: ENST00000415095   ⟹   ENSP00000396728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,545,802 - 109,613,835 (-)Ensembl
RefSeq Acc Id: ENST00000423520   ⟹   ENSP00000416597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,565,830 - 109,614,093 (-)Ensembl
RefSeq Acc Id: ENST00000425498   ⟹   ENSP00000399270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,564,425 - 109,613,921 (-)Ensembl
RefSeq Acc Id: ENST00000437928   ⟹   ENSP00000407790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,544,237 - 109,613,915 (-)Ensembl
RefSeq Acc Id: ENST00000442746   ⟹   ENSP00000408392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,585,726 - 109,613,510 (-)Ensembl
RefSeq Acc Id: ENST00000461295   ⟹   ENSP00000441218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,567,919 - 109,613,937 (-)Ensembl
RefSeq Acc Id: ENST00000468616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,546,030 - 109,567,871 (-)Ensembl
RefSeq Acc Id: ENST00000483047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,564,215 - 109,567,853 (-)Ensembl
RefSeq Acc Id: ENST00000486678   ⟹   ENSP00000446331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,564,366 - 109,614,093 (-)Ensembl
RefSeq Acc Id: ENST00000493445   ⟹   ENSP00000445707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,564,519 - 109,613,918 (-)Ensembl
RefSeq Acc Id: NM_001321496   ⟹   NP_001308425
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321498   ⟹   NP_001308427
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321499   ⟹   NP_001308428
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321500   ⟹   NP_001308429
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321501   ⟹   NP_001308430
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321502   ⟹   NP_001308431
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321503   ⟹   NP_001308432
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321504   ⟹   NP_001308433
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321505   ⟹   NP_001308434
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321506   ⟹   NP_001308435
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321507   ⟹   NP_001308436
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321508   ⟹   NP_001308437
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321509   ⟹   NP_001308438
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321510   ⟹   NP_001308439
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321511   ⟹   NP_001308440
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321512   ⟹   NP_001308441
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321513   ⟹   NP_001308442
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,667 (-)NCBI
CHM1_12110,304,564 - 110,375,423 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321514   ⟹   NP_001308443
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,667 (-)NCBI
CHM1_12110,304,564 - 110,375,423 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321515   ⟹   NP_001308444
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,667 (-)NCBI
CHM1_12110,304,564 - 110,375,423 (-)NCBI
Sequence:
RefSeq Acc Id: NM_144710   ⟹   NP_653311
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
GRCh372110,300,372 - 110,371,783 (-)NCBI
Build 362109,657,665 - 109,729,072 (-)NCBI Archive
Celera2104,469,162 - 104,540,564 (-)RGD
HuRef2103,756,363 - 103,827,838 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_178584   ⟹   NP_848699
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,613,966 (-)NCBI
GRCh372110,300,372 - 110,371,783 (-)NCBI
Build 362109,657,665 - 109,729,072 (-)NCBI Archive
Celera2104,469,162 - 104,540,564 (-)RGD
HuRef2103,756,363 - 103,827,838 (-)NCBI
CHM1_12110,304,564 - 110,375,972 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712317   ⟹   XP_006712380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,544,241 - 109,614,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510698   ⟹   XP_011509000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,797 - 109,613,662 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510699   ⟹   XP_011509001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,797 - 109,613,927 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510700   ⟹   XP_011509002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,797 - 109,614,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510701   ⟹   XP_011509003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,797 - 109,614,087 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510702   ⟹   XP_011509004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,797 - 109,614,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510703   ⟹   XP_011509005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,797 - 109,613,130 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510704   ⟹   XP_011509006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,614,205 (-)NCBI
Sequence:
RefSeq Acc Id: XR_922870
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,542,799 - 109,614,205 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001308425 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308427 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308428 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308429 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308430 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308431 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308432 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308433 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308434 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308435 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308436 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308437 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308438 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308439 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308440 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308441 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308442 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308443 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308444 (Get FASTA)   NCBI Sequence Viewer  
  NP_653311 (Get FASTA)   NCBI Sequence Viewer  
  NP_848699 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712380 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509000 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509001 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509002 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509003 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509004 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509005 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509006 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF67469 (Get FASTA)   NCBI Sequence Viewer  
  AAH20502 (Get FASTA)   NCBI Sequence Viewer  
  AAH50345 (Get FASTA)   NCBI Sequence Viewer  
  AAY24142 (Get FASTA)   NCBI Sequence Viewer  
  BAB13873 (Get FASTA)   NCBI Sequence Viewer  
  BAB14176 (Get FASTA)   NCBI Sequence Viewer  
  BAD92112 (Get FASTA)   NCBI Sequence Viewer  
  BAF84727 (Get FASTA)   NCBI Sequence Viewer  
  BAG52471 (Get FASTA)   NCBI Sequence Viewer  
  BAH11763 (Get FASTA)   NCBI Sequence Viewer  
  BAH12107 (Get FASTA)   NCBI Sequence Viewer  
  CAB43213 (Get FASTA)   NCBI Sequence Viewer  
  CAB89249 (Get FASTA)   NCBI Sequence Viewer  
  EAW53858 (Get FASTA)   NCBI Sequence Viewer  
  EAW53859 (Get FASTA)   NCBI Sequence Viewer  
  EAW53860 (Get FASTA)   NCBI Sequence Viewer  
  EAW53861 (Get FASTA)   NCBI Sequence Viewer  
  EAW53862 (Get FASTA)   NCBI Sequence Viewer  
  EAW53863 (Get FASTA)   NCBI Sequence Viewer  
  EAW53864 (Get FASTA)   NCBI Sequence Viewer  
  Q9P0V9 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_848699   ⟸   NM_178584
- Peptide Label: isoform 2
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot),   Q59H84 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_653311   ⟸   NM_144710
- Peptide Label: isoform 1
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot),   Q59H84 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712380   ⟸   XM_006712317
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011509001   ⟸   XM_011510699
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011509004   ⟸   XM_011510702
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011509003   ⟸   XM_011510701
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011509002   ⟸   XM_011510700
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011509000   ⟸   XM_011510698
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011509005   ⟸   XM_011510703
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011509006   ⟸   XM_011510704
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001308432   ⟸   NM_001321503
- Peptide Label: isoform 9
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308435   ⟸   NM_001321506
- Peptide Label: isoform 12
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308440   ⟸   NM_001321511
- Peptide Label: isoform 17
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308437   ⟸   NM_001321508
- Peptide Label: isoform 14
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308434   ⟸   NM_001321505
- Peptide Label: isoform 11
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot),   Q9H9P7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308433   ⟸   NM_001321504
- Peptide Label: isoform 10
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308431   ⟸   NM_001321502
- Peptide Label: isoform 8
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308429   ⟸   NM_001321500
- Peptide Label: isoform 6
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308439   ⟸   NM_001321510
- Peptide Label: isoform 16
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308428   ⟸   NM_001321499
- Peptide Label: isoform 5
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot),   B7Z277 (UniProtKB/TrEMBL),   Q59H84 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308425   ⟸   NM_001321496
- Peptide Label: isoform 3
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot),   B7Z371 (UniProtKB/TrEMBL),   Q59H84 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308436   ⟸   NM_001321507
- Peptide Label: isoform 13
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308427   ⟸   NM_001321498
- Peptide Label: isoform 4
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot),   B5ME97 (UniProtKB/TrEMBL),   Q59H84 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308441   ⟸   NM_001321512
- Peptide Label: isoform 18
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot),   E7EW69 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308438   ⟸   NM_001321509
- Peptide Label: isoform 15
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308430   ⟸   NM_001321501
- Peptide Label: isoform 7
- UniProtKB: Q9P0V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308443   ⟸   NM_001321514
- Peptide Label: isoform 20
- Sequence:
RefSeq Acc Id: NP_001308444   ⟸   NM_001321515
- Peptide Label: isoform 21
- Sequence:
RefSeq Acc Id: NP_001308442   ⟸   NM_001321513
- Peptide Label: isoform 19
- Sequence:
RefSeq Acc Id: ENSP00000407790   ⟸   ENST00000437928
RefSeq Acc Id: ENSP00000416597   ⟸   ENST00000423520
RefSeq Acc Id: ENSP00000399270   ⟸   ENST00000425498
RefSeq Acc Id: ENSP00000396051   ⟸   ENST00000411469
RefSeq Acc Id: ENSP00000445707   ⟸   ENST00000493445
RefSeq Acc Id: ENSP00000396728   ⟸   ENST00000415095
RefSeq Acc Id: ENSP00000408392   ⟸   ENST00000442746
RefSeq Acc Id: ENSP00000446331   ⟸   ENST00000486678
RefSeq Acc Id: ENSP00000349116   ⟸   ENST00000356688
RefSeq Acc Id: ENSP00000441218   ⟸   ENST00000461295
RefSeq Acc Id: ENSP00000380826   ⟸   ENST00000397714
RefSeq Acc Id: ENSP00000380824   ⟸   ENST00000397712
Protein Domains
Septin-type G

Promoters
RGD ID:6861298
Promoter ID:EPDNEW_H3814
Type:initiation region
Name:SEPT10_2
Description:septin 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3815  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,567,876 - 109,567,936EPDNEW
RGD ID:6861300
Promoter ID:EPDNEW_H3815
Type:initiation region
Name:SEPT10_1
Description:septin 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3814  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,614,155 - 109,614,215EPDNEW
RGD ID:6797332
Promoter ID:HG_KWN:34381
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000334001,   ENST00000356688
Position:
Human AssemblyChrPosition (strand)Source
Build 362109,726,501 - 109,727,001 (-)MPROMDB
RGD ID:6797344
Promoter ID:HG_KWN:34382
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000352314,   NM_144710,   NM_178584,   OTTHUMT00000330168,   OTTHUMT00000337806,   OTTHUMT00000337807,   OTTHUMT00000337810,   OTTHUMT00000337811,   OTTHUMT00000337812,   OTTHUMT00000337813,   OTTHUMT00000337814,   OTTHUMT00000337815,   OTTHUMT00000337816,   UC002TEY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362109,727,801 - 109,734,152 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1 copy number loss See cases [RCV000051261] Chr2:108579001..109736559 [GRCh38]
Chr2:109195457..110494136 [GRCh37]
Chr2:108561889..109851425 [NCBI36]
Chr2:2q12.3-13
pathogenic
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 copy number gain See cases [RCV000053141] Chr2:106696282..110223328 [GRCh38]
Chr2:107312738..110980905 [GRCh37]
Chr2:106679170..110338194 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053142]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053142]|See cases [RCV000053142] Chr2:108593876..109700179 [GRCh38]
Chr2:109210332..110457756 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3 copy number gain See cases [RCV000053142] Chr2:108593876..109700179 [GRCh38]
Chr2:109210332..110457756 [GRCh37]
Chr2:108576764..109815045 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1 copy number loss See cases [RCV000134167] Chr2:107962353..109700179 [GRCh38]
Chr2:108578809..110457756 [GRCh37]
Chr2:107945241..109815045 [NCBI36]
Chr2:2q12.3-13
pathogenic|uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x1 copy number loss See cases [RCV000135738] Chr2:108593876..109700179 [GRCh38]
Chr2:109210332..110457756 [GRCh37]
Chr2:108576764..109815045 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108681906-109700179)x3 copy number gain See cases [RCV000136575] Chr2:108681906..109700179 [GRCh38]
Chr2:109298362..110457756 [GRCh37]
Chr2:108664794..109815045 [NCBI36]
Chr2:2q12.3-13
likely benign|uncertain significance
GRCh38/hg38 2q13(chr2:108719125-110611314)x3 copy number gain See cases [RCV000137361] Chr2:108719125..110611314 [GRCh38]
Chr2:109335581..111368891 [GRCh37]
Chr2:108702013..111085360 [NCBI36]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 copy number gain See cases [RCV000139569] Chr2:106516472..110576905 [GRCh38]
Chr2:107132928..111334482 [GRCh37]
Chr2:106499360..110857227 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 copy number gain See cases [RCV000140834] Chr2:106428663..112379067 [GRCh38]
Chr2:107045119..113136644 [GRCh37]
Chr2:106411551..112853115 [NCBI36]
Chr2:2q12.2-14.1
uncertain significance
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic
GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1 copy number loss See cases [RCV000141950] Chr2:108660713..109735214 [GRCh38]
Chr2:109277169..110492791 [GRCh37]
Chr2:108643601..109850080 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1 copy number loss See cases [RCV000142089] Chr2:108526866..109746741 [GRCh38]
Chr2:109143322..110504318 [GRCh37]
Chr2:108509754..109861607 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2q12.3-13(chr2:109300532-110862536)x3 copy number gain not provided [RCV000762743] Chr2:109300532..110862536 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 copy number loss See cases [RCV000240053] Chr2:106423310..115054828 [GRCh37]
Chr2:2q12.2-14.1
pathogenic
GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1 copy number loss See cases [RCV000240485] Chr2:109798247..125658380 [GRCh37]
Chr2:2q12.3-14.3
pathogenic
GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1 copy number loss See cases [RCV000240490] Chr2:109556627..117570152 [GRCh37]
Chr2:2q12.3-14.1
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
GRCh37/hg19 2q12.3-13(chr2:109301074-110482930) copy number loss not provided [RCV000767554] Chr2:109301074..110482930 [GRCh37]
Chr2:2q12.3-13
likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2q12.3-13(chr2:108526025-110876776)x3 copy number gain See cases [RCV000446992] Chr2:108526025..110876776 [GRCh37]
Chr2:2q12.3-13
uncertain significance
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
GRCh37/hg19 2q12.3-13(chr2:108534030-110492791)x3 copy number gain See cases [RCV000510943] Chr2:108534030..110492791 [GRCh37]
Chr2:2q12.3-13
uncertain significance
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
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss PARP Inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
Single allele duplication not provided [RCV000678012] Chr2:107096423..112235727 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
GRCh37/hg19 2q12.3-13(chr2:109295035-110504318)x1 copy number loss not provided [RCV000682122] Chr2:109295035..110504318 [GRCh37]
Chr2:2q12.3-13
likely pathogenic
GRCh37/hg19 2q12.3-13(chr2:108501887-110504318)x3 copy number gain not provided [RCV000682142] Chr2:108501887..110504318 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1 copy number loss not provided [RCV000682152] Chr2:107020782..111365996 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13
pathogenic
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 2q12.3-13(chr2:108499809-110504318)x1 copy number loss not provided [RCV001005304] Chr2:108499809..110504318 [GRCh37]
Chr2:2q12.3-13
likely pathogenic
GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1 copy number loss not provided [RCV001259645] Chr2:107029680..113187742 [GRCh37]
Chr2:2q12.2-13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14349 AgrOrtholog
COSMIC SEPTIN10 COSMIC
Ensembl Genes ENSG00000186522 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000349116 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000380824 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000380826 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000396051 UniProtKB/TrEMBL
  ENSP00000396728 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000399270 UniProtKB/TrEMBL
  ENSP00000407790 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000408392 UniProtKB/TrEMBL
  ENSP00000416597 UniProtKB/TrEMBL
  ENSP00000441218 UniProtKB/TrEMBL
  ENSP00000445707 UniProtKB/TrEMBL
  ENSP00000446331 UniProtKB/TrEMBL
Ensembl Transcript ENST00000356688 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000397712 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000397714 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000411469 UniProtKB/TrEMBL
  ENST00000415095 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000423520 UniProtKB/TrEMBL
  ENST00000425498 UniProtKB/TrEMBL
  ENST00000437928 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000442746 UniProtKB/TrEMBL
  ENST00000461295 UniProtKB/TrEMBL
  ENST00000486678 UniProtKB/TrEMBL
  ENST00000493445 UniProtKB/TrEMBL
GTEx ENSG00000186522 GTEx
HGNC ID HGNC:14349 ENTREZGENE
Human Proteome Map SEPTIN10 Human Proteome Map
InterPro G_SEPTIN_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:151011 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 151011 ENTREZGENE
OMIM 611737 OMIM
Pfam Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134918683 PharmGKB
PIRSF Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_SEPTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.469615 ENTREZGENE
UniProt B5ME97 ENTREZGENE, UniProtKB/TrEMBL
  B7Z277 ENTREZGENE, UniProtKB/TrEMBL
  B7Z371 ENTREZGENE, UniProtKB/TrEMBL
  C9JEQ7_HUMAN UniProtKB/TrEMBL
  C9JEW2_HUMAN UniProtKB/TrEMBL
  C9JNR7_HUMAN UniProtKB/TrEMBL
  E7EW69 ENTREZGENE, UniProtKB/TrEMBL
  E7EX04_HUMAN UniProtKB/TrEMBL
  F5GYV2_HUMAN UniProtKB/TrEMBL
  F5H1F2_HUMAN UniProtKB/TrEMBL
  F5H1W3_HUMAN UniProtKB/TrEMBL
  F8WC85_HUMAN UniProtKB/TrEMBL
  Q59H84 ENTREZGENE, UniProtKB/TrEMBL
  Q9H9P7 ENTREZGENE, UniProtKB/TrEMBL
  Q9P0V9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KRQ9 UniProtKB/Swiss-Prot
  E7EX45 UniProtKB/TrEMBL
  Q86VP5 UniProtKB/Swiss-Prot
  Q9HAH6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-09 SEPTIN10  septin 10  SEPT10  septin 10  Symbol and/or name change 5135510 APPROVED
2012-04-24 SEPT10  septin 10  SEPT10  septin 10  Symbol and/or name change 5135510 APPROVED