SEPTIN3 (septin 3) - Rat Genome Database

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Gene: SEPTIN3 (septin 3) Homo sapiens
Analyze
Symbol: SEPTIN3
Name: septin 3
RGD ID: 736597
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in cellular protein localization and cytoskeleton-dependent cytokinesis. Predicted to localize to cell division site; cytoskeleton; and neuron projection.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bK250D10.3; MGC133218; neuronal-specific septin 3; neuronal-specific septin-3; SEP3; SEPT3
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 Ensembl2241,969,475 - 41,998,221 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,969,443 - 41,998,221 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,365,447 - 42,394,225 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,702,877 - 40,724,171 (+)NCBINCBI36hg18NCBI36
Build 342240,697,495 - 40,718,570NCBI
Celera2226,179,152 - 26,200,449 (+)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,339,389 - 25,360,426 (+)NCBIHuRef
CHM1_12242,333,143 - 42,354,415 (+)NCBICHM1_1
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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10591208   PMID:11076863   PMID:11230166   PMID:11322766   PMID:12477932   PMID:15107017   PMID:15200238   PMID:15461802   PMID:15485489   PMID:15489336   PMID:16169070  
PMID:16381901   PMID:18029348   PMID:21082023   PMID:21873635   PMID:21900206   PMID:23163726   PMID:24528284   PMID:24787956   PMID:25056061   PMID:25416956   PMID:26186194   PMID:28298427  
PMID:28514442   PMID:29051266   PMID:29410696   PMID:30254212   PMID:31515488   PMID:31527615   PMID:32296183   PMID:32910969  


Genomics

Comparative Map Data
SEPTIN3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,969,475 - 41,998,221 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,969,443 - 41,998,221 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,365,447 - 42,394,225 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,702,877 - 40,724,171 (+)NCBINCBI36hg18NCBI36
Build 342240,697,495 - 40,718,570NCBI
Celera2226,179,152 - 26,200,449 (+)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,339,389 - 25,360,426 (+)NCBIHuRef
CHM1_12242,333,143 - 42,354,415 (+)NCBICHM1_1
Septin3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391582,153,003 - 82,178,775 (+)NCBIGRCm39mm39
GRCm39 Ensembl1582,153,003 - 82,178,775 (+)Ensembl
GRCm381582,268,802 - 82,294,574 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1582,268,802 - 82,294,574 (+)EnsemblGRCm38mm10GRCm38
MGSCv371582,105,365 - 82,124,872 (+)NCBIGRCm37mm9NCBIm37
MGSCv361582,102,657 - 82,119,825 (+)NCBImm8
Celera1584,399,152 - 84,418,538 (+)NCBICelera
Cytogenetic Map15E1NCBI
Septin3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,783,217 - 113,811,089 (+)NCBI
Rnor_6.0 Ensembl7123,510,804 - 123,526,542 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07123,506,535 - 123,526,542 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07123,491,254 - 123,511,261 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,650,069 - 120,669,466 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17120,684,297 - 120,703,696 (+)NCBI
Celera7110,104,873 - 110,124,400 (+)NCBICelera
Cytogenetic Map7q34NCBI
Septin3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541327,381,103 - 27,400,899 (+)NCBIChiLan1.0ChiLan1.0
SEPTIN3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12240,953,369 - 40,974,210 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v02222,860,671 - 22,890,643 (+)NCBIMhudiblu_PPA_v0panPan3
SEPTIN3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11023,370,393 - 23,396,922 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1023,371,558 - 23,396,205 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,304,474 - 23,331,048 (-)NCBI
ROS_Cfam_1.01024,115,099 - 24,141,685 (-)NCBI
UMICH_Zoey_3.11023,832,430 - 23,855,170 (-)NCBI
UNSW_CanFamBas_1.01024,153,414 - 24,179,997 (-)NCBI
UU_Cfam_GSD_1.01024,327,530 - 24,354,096 (-)NCBI
Septin3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049457,020,768 - 7,045,298 (-)NCBI
SpeTri2.0NW_00493649231,182 - 55,866 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEPTIN3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl56,589,864 - 6,662,432 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.156,631,750 - 6,657,837 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.253,698,534 - 3,721,309 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SEPTIN3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11924,503,235 - 24,532,092 (+)NCBI
Septin3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247526,737,704 - 6,757,920 (-)NCBI

Position Markers
D22S1178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,390,752 - 42,391,002UniSTSGRCh37
Build 362240,720,698 - 40,720,948RGDNCBI36
Celera2226,196,976 - 26,197,226RGD
Cytogenetic Map22q13.2UniSTS
HuRef5127,007,356 - 127,007,909UniSTS
HuRef2225,356,949 - 25,357,203UniSTS
Marshfield Genetic Map2248.19UniSTS
Marshfield Genetic Map2248.19RGD
Genethon Genetic Map2240.9UniSTS
D22S1261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,393,997 - 42,394,221UniSTSGRCh37
Build 362240,723,943 - 40,724,167RGDNCBI36
Celera2226,200,221 - 26,200,445RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,360,198 - 25,360,422UniSTS
GeneMap99-GB4 RH Map22136.98UniSTS
Whitehead-RH Map22158.5UniSTS
D22S410E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,394,023 - 42,394,112UniSTSGRCh37
Build 362240,723,969 - 40,724,058RGDNCBI36
Celera2226,200,247 - 26,200,336RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,360,224 - 25,360,313UniSTS
RH104005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,385,379 - 42,385,512UniSTSGRCh37
Build 362240,715,325 - 40,715,458RGDNCBI36
Celera2226,191,602 - 26,191,735RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,351,807 - 25,351,940UniSTS
GeneMap99-GB4 RH Map22137.62UniSTS
D22S307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,390,862 - 42,391,010UniSTSGRCh37
Build 362240,720,808 - 40,720,956RGDNCBI36
Celera2226,197,086 - 26,197,234RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,357,059 - 25,357,211UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4841
Count of miRNA genes:1078
Interacting mature miRNAs:1300
Transcripts:ENST00000291236, ENST00000328414, ENST00000396417, ENST00000396425, ENST00000396426, ENST00000406029, ENST00000449288, ENST00000460267
Prediction methods: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 1
Medium 33 1 125 4 44 4 810 30 3440 23 88 112 2 586 1
Low 1406 283 609 143 667 69 1479 407 275 164 863 888 81 1 229 743 4
Below cutoff 990 2619 934 425 1139 341 1979 1676 16 226 498 605 89 967 1379 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001363845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF285107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF285108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF285109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI341333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM666855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX465056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000396417   ⟹   ENSP00000379695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,977,050 - 41,998,066 (+)Ensembl
RefSeq Acc Id: ENST00000396425   ⟹   ENSP00000379703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,976,934 - 41,998,221 (+)Ensembl
RefSeq Acc Id: ENST00000396426   ⟹   ENSP00000379704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,976,810 - 41,998,221 (+)Ensembl
RefSeq Acc Id: ENST00000406029   ⟹   ENSP00000383956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,976,845 - 41,997,728 (+)Ensembl
RefSeq Acc Id: ENST00000449288   ⟹   ENSP00000391416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,976,272 - 41,989,589 (+)Ensembl
RefSeq Acc Id: ENST00000460267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,985,642 - 41,987,689 (+)Ensembl
RefSeq Acc Id: ENST00000644076   ⟹   ENSP00000494051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,969,475 - 41,998,221 (+)Ensembl
RefSeq Acc Id: NM_001363845   ⟹   NP_001350774
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,969,443 - 41,998,221 (+)NCBI
RefSeq Acc Id: NM_001389668   ⟹   NP_001376597
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,969,443 - 41,998,221 (+)NCBI
RefSeq Acc Id: NM_001389669   ⟹   NP_001376598
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,969,443 - 41,998,221 (+)NCBI
RefSeq Acc Id: NM_001389670   ⟹   NP_001376599
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,969,443 - 41,998,221 (+)NCBI
RefSeq Acc Id: NM_001389671   ⟹   NP_001376600
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,969,443 - 41,998,221 (+)NCBI
RefSeq Acc Id: NM_001389672   ⟹   NP_001376601
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,969,443 - 41,998,221 (+)NCBI
RefSeq Acc Id: NM_001389673   ⟹   NP_001376602
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,969,443 - 41,998,221 (+)NCBI
RefSeq Acc Id: NM_001389674   ⟹   NP_001376603
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,976,509 - 41,998,221 (+)NCBI
RefSeq Acc Id: NM_001389675   ⟹   NP_001376604
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,976,509 - 41,998,221 (+)NCBI
RefSeq Acc Id: NM_001389676   ⟹   NP_001376605
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,976,778 - 41,998,221 (+)NCBI
RefSeq Acc Id: NM_001389677   ⟹   NP_001376606
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,976,778 - 41,998,221 (+)NCBI
RefSeq Acc Id: NM_001389678   ⟹   NP_001376607
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,976,509 - 41,998,221 (+)NCBI
RefSeq Acc Id: NM_001389679   ⟹   NP_001376608
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,976,778 - 41,998,221 (+)NCBI
RefSeq Acc Id: NM_019106   ⟹   NP_061979
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,976,778 - 41,998,221 (+)NCBI
GRCh372242,372,855 - 42,394,225 (+)NCBI
Build 362240,702,877 - 40,724,171 (+)NCBI Archive
Celera2226,179,152 - 26,200,449 (+)RGD
HuRef2225,339,389 - 25,360,426 (+)RGD
CHM1_12242,333,143 - 42,354,415 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145733   ⟹   NP_663786
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,976,778 - 41,998,221 (+)NCBI
GRCh372242,372,855 - 42,394,225 (+)NCBI
Build 362240,702,877 - 40,724,171 (+)NCBI Archive
Celera2226,179,152 - 26,200,449 (+)RGD
HuRef2225,339,389 - 25,360,426 (+)RGD
CHM1_12242,333,143 - 42,354,415 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001350774 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376597 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376598 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376599 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376600 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376601 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376602 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376603 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376604 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376605 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376606 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376607 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376608 (Get FASTA)   NCBI Sequence Viewer  
  NP_061979 (Get FASTA)   NCBI Sequence Viewer  
  NP_663786 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG00517 (Get FASTA)   NCBI Sequence Viewer  
  AAG00518 (Get FASTA)   NCBI Sequence Viewer  
  AAG00519 (Get FASTA)   NCBI Sequence Viewer  
  AAI11780 (Get FASTA)   NCBI Sequence Viewer  
  BAD92389 (Get FASTA)   NCBI Sequence Viewer  
  BAF82726 (Get FASTA)   NCBI Sequence Viewer  
  BAH13172 (Get FASTA)   NCBI Sequence Viewer  
  CAD38797 (Get FASTA)   NCBI Sequence Viewer  
  CAG30458 (Get FASTA)   NCBI Sequence Viewer  
  EAW60478 (Get FASTA)   NCBI Sequence Viewer  
  EAW60479 (Get FASTA)   NCBI Sequence Viewer  
  EAW60480 (Get FASTA)   NCBI Sequence Viewer  
  EAW60481 (Get FASTA)   NCBI Sequence Viewer  
  EAW60482 (Get FASTA)   NCBI Sequence Viewer  
  Q9UH03 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_061979   ⟸   NM_019106
- Peptide Label: isoform B
- UniProtKB: Q9UH03 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_663786   ⟸   NM_145733
- Peptide Label: isoform A
- UniProtKB: Q9UH03 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350774   ⟸   NM_001363845
- Peptide Label: isoform C
RefSeq Acc Id: ENSP00000383956   ⟸   ENST00000406029
RefSeq Acc Id: ENSP00000494051   ⟸   ENST00000644076
RefSeq Acc Id: ENSP00000391416   ⟸   ENST00000449288
RefSeq Acc Id: ENSP00000379695   ⟸   ENST00000396417
RefSeq Acc Id: ENSP00000379704   ⟸   ENST00000396426
RefSeq Acc Id: ENSP00000379703   ⟸   ENST00000396425
RefSeq Acc Id: NP_001376597   ⟸   NM_001389668
- Peptide Label: isoform D
RefSeq Acc Id: NP_001376598   ⟸   NM_001389669
- Peptide Label: isofom E
RefSeq Acc Id: NP_001376600   ⟸   NM_001389671
- Peptide Label: isoform G
RefSeq Acc Id: NP_001376599   ⟸   NM_001389670
- Peptide Label: isoform F
RefSeq Acc Id: NP_001376602   ⟸   NM_001389673
- Peptide Label: isoform I
RefSeq Acc Id: NP_001376601   ⟸   NM_001389672
- Peptide Label: isoform H
RefSeq Acc Id: NP_001376604   ⟸   NM_001389675
- Peptide Label: isoform K
RefSeq Acc Id: NP_001376603   ⟸   NM_001389674
- Peptide Label: isoform J
RefSeq Acc Id: NP_001376607   ⟸   NM_001389678
- Peptide Label: isoform N
RefSeq Acc Id: NP_001376606   ⟸   NM_001389677
- Peptide Label: isoform M
RefSeq Acc Id: NP_001376605   ⟸   NM_001389676
- Peptide Label: isoform L
RefSeq Acc Id: NP_001376608   ⟸   NM_001389679
- Peptide Label: isoform O
Protein Domains
Septin-type G

Promoters
RGD ID:6800378
Promoter ID:HG_KWN:43035
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000396417,   NM_019106,   OTTHUMT00000322051,   OTTHUMT00000322054,   UC010GYR.1,   UC010GYS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,702,376 - 40,702,876 (+)MPROMDB
RGD ID:13604296
Promoter ID:EPDNEW_H28333
Type:initiation region
Name:SEPT3_1
Description:septin 3
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
GRCh382241,976,791 - 41,976,851EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1 copy number loss See cases [RCV000136528] Chr22:41645339..42565798 [GRCh38]
Chr22:42041343..42961804 [GRCh37]
Chr22:40371289..41291748 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
pathogenic
GRCh38/hg38 22q13.2(chr22:41764466-41998153)x3 copy number gain See cases [RCV000142720] Chr22:41764466..41998153 [GRCh38]
Chr22:42160470..42394157 [GRCh37]
Chr22:40490416..40724103 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1 copy number loss See cases [RCV000240146] Chr22:42207144..42776457 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.11:g.(?_41301335)_(42070317_?)del deletion Common variable immunodeficiency 4 [RCV000648330] Chr22:41301335..42070317 [GRCh38]
Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3 copy number gain not provided [RCV000684486] Chr22:41849322..42756616 [GRCh37]
Chr22:22q13.2
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_145733.3(SEPTIN3):c.77C>T (p.Ala26Val) single nucleotide variant not provided [RCV000914568] Chr22:41981711 [GRCh38]
Chr22:42377715 [GRCh37]
Chr22:22q13.2
benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1 copy number loss not provided [RCV001258783] Chr22:41853620..42385978 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:42158393-42409550)x3 copy number gain not provided [RCV001258784] Chr22:42158393..42409550 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293368] Chr22:42356886..43684002 [GRCh37]
Chr22:22q13.2
pathogenic
NC_000022.10:g.(?_41697339)_(42466321_?)del deletion Common variable immunodeficiency 4 [RCV001305750] Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10750 AgrOrtholog
COSMIC SEPTIN3 COSMIC
Ensembl Genes ENSG00000100167 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000379695 UniProtKB/Swiss-Prot
  ENSP00000379703 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379704 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000383956 UniProtKB/TrEMBL
  ENSP00000391416 UniProtKB/TrEMBL
  ENSP00000494051 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000396417 UniProtKB/Swiss-Prot
  ENST00000396425 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396426 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000406029 UniProtKB/TrEMBL
  ENST00000449288 UniProtKB/TrEMBL
  ENST00000644076 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000100167 GTEx
HGNC ID HGNC:10750 ENTREZGENE
Human Proteome Map SEPTIN3 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
  Septin3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55964 UniProtKB/Swiss-Prot
NCBI Gene 55964 ENTREZGENE
OMIM 608314 OMIM
Pfam Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB 3-Sep RGD, PharmGKB
PIRSF Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS SEPTIN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_SEPTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y4H2_HUMAN UniProtKB/TrEMBL
  B1AHR1_HUMAN UniProtKB/TrEMBL
  B1AHR2_HUMAN UniProtKB/TrEMBL
  Q9UH03 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B1AHR0 UniProtKB/Swiss-Prot
  Q2NKJ7 UniProtKB/Swiss-Prot
  Q59GF7 UniProtKB/Swiss-Prot
  Q6IBZ6 UniProtKB/Swiss-Prot
  Q8N3P3 UniProtKB/Swiss-Prot
  Q9HD35 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-09 SEPTIN3  septin 3  SEPT3    Symbol and/or name change 5135510 APPROVED
2011-09-01 SEPT3  septin 3  SEPT3  septin 3  Symbol and/or name change 5135510 APPROVED