SEPTIN12 (septin 12) - Rat Genome Database

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Gene: SEPTIN12 (septin 12) Homo sapiens
Analyze
Symbol: SEPTIN12
Name: septin 12
RGD ID: 1604543
HGNC Page HGNC:26348
Description: Enables GTP binding activity and protein homodimerization activity. Predicted to be involved in cytoskeleton-dependent cytokinesis and flagellated sperm motility. Located in several cellular components, including midbody; perinuclear region of cytoplasm; and sperm annulus. Part of septin complex. Implicated in spermatogenic failure 10.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ25410; SEPT12; septin-12; SPGF10; testicular tissue protein Li 168
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,777,606 - 4,791,828 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,777,606 - 4,788,398 (-)EnsemblGRCh38hg38GRCh38
GRCh37164,827,607 - 4,838,346 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,767,675 - 4,778,348 (-)NCBINCBI36Build 36hg18NCBI36
Celera165,036,441 - 5,047,169 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,793,813 - 4,804,752 (-)NCBIHuRef
CHM1_1164,828,375 - 4,839,366 (-)NCBICHM1_1
T2T-CHM13v2.0164,807,061 - 4,821,315 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:14611653   PMID:15915442   PMID:17207965   PMID:18029348   PMID:18047794   PMID:18443421   PMID:19359518   PMID:21516116   PMID:21636737   PMID:21832049   PMID:21873635  
PMID:22116646   PMID:22275165   PMID:22479503   PMID:24213608   PMID:25416956   PMID:25588830   PMID:25775403   PMID:26186194   PMID:27854341   PMID:28514442   PMID:30488758   PMID:30513371  
PMID:30631154   PMID:31515488   PMID:31880374   PMID:32296183   PMID:32814053   PMID:33961781   PMID:34057684  


Genomics

Comparative Map Data
SEPTIN12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,777,606 - 4,791,828 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,777,606 - 4,788,398 (-)EnsemblGRCh38hg38GRCh38
GRCh37164,827,607 - 4,838,346 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,767,675 - 4,778,348 (-)NCBINCBI36Build 36hg18NCBI36
Celera165,036,441 - 5,047,169 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,793,813 - 4,804,752 (-)NCBIHuRef
CHM1_1164,828,375 - 4,839,366 (-)NCBICHM1_1
T2T-CHM13v2.0164,807,061 - 4,821,315 (-)NCBIT2T-CHM13v2.0
Septin12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39164,804,722 - 4,815,716 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl164,804,722 - 4,815,716 (-)EnsemblGRCm39 Ensembl
GRCm38164,986,858 - 4,997,852 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl164,986,858 - 4,997,852 (-)EnsemblGRCm38mm10GRCm38
MGSCv37164,988,178 - 4,997,872 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36164,903,406 - 4,913,100 (-)NCBIMGSCv36mm8
Celera165,619,651 - 5,629,157 (-)NCBICelera
Cytogenetic Map16A1NCBI
cM Map162.49NCBI
Septin12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81011,087,354 - 11,097,036 (+)NCBIGRCr8
mRatBN7.21010,580,900 - 10,590,582 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1010,581,008 - 10,590,581 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1015,289,092 - 15,298,675 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01014,777,915 - 14,787,498 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01010,447,225 - 10,456,795 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01010,774,702 - 10,784,276 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1010,774,639 - 10,784,277 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0109,541,597 - 9,551,204 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41010,692,377 - 10,707,562 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera109,545,217 - 9,554,814 (+)NCBICelera
Cytogenetic Map10q12NCBI
Septin12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544212,705,034 - 12,719,140 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544212,704,546 - 12,717,905 (+)NCBIChiLan1.0ChiLan1.0
SEPTIN12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2185,304,771 - 5,319,124 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1169,094,920 - 9,109,246 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0163,701,796 - 3,713,170 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1164,867,208 - 4,877,772 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl164,867,217 - 4,877,772 (-)Ensemblpanpan1.1panPan2
SEPTIN12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1636,630,038 - 36,641,920 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl636,630,117 - 36,641,924 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha638,022,271 - 38,034,129 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0636,832,990 - 36,844,902 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl636,833,088 - 36,844,906 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1636,627,017 - 36,639,138 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0636,519,918 - 36,531,836 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0636,922,144 - 36,934,271 (+)NCBIUU_Cfam_GSD_1.0
Septin12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344106,899,316 - 106,908,352 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365304,744,818 - 4,750,521 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365304,744,772 - 4,750,495 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEPT12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl337,606,716 - 37,627,196 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1337,604,669 - 37,617,336 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2338,677,098 - 38,688,225 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SEPTIN12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.154,448,098 - 4,465,389 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606826,201,456 - 26,213,054 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Septin12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248242,633,154 - 2,644,880 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248242,633,025 - 2,645,557 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SEPTIN12
31 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_144605.5(SEPTIN12):c.474G>A (p.Val158=) single nucleotide variant Spermatogenic failure 10 [RCV000030755]|not provided [RCV001642248] Chr16:4783969 [GRCh38]
Chr16:4833970 [GRCh37]
Chr16:16p13.3		 risk factor|benign
NM_144605.5(SEPTIN12):c.266C>T (p.Thr89Met) single nucleotide variant Spermatogenic failure 10 [RCV000030756] Chr16:4786006 [GRCh38]
Chr16:4836007 [GRCh37]
Chr16:16p13.3		 risk factor|not provided
NM_144605.5(SEPTIN12):c.589G>A (p.Asp197Asn) single nucleotide variant Spermatogenic failure 10 [RCV000030757] Chr16:4783690 [GRCh38]
Chr16:4833691 [GRCh37]
Chr16:16p13.3		 risk factor|not provided
GRCh38/hg38 16p13.3(chr16:4490463-4815780)x1 copy number loss See cases [RCV000051115] Chr16:4490463..4815780 [GRCh38]
Chr16:4540464..4865781 [GRCh37]
Chr16:4480465..4805782 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
NM_144605.4(SEPT12):c.1022C>T (p.Pro341Leu) single nucleotide variant Malignant melanoma [RCV000071142] Chr16:4777852 [GRCh38]
Chr16:4827853 [GRCh37]
Chr16:4767854 [NCBI36]
Chr16:16p13.3		 not provided
NM_144605.4(SEPT12):c.334G>A (p.Asp112Asn) single nucleotide variant Malignant melanoma [RCV000063047] Chr16:4785847 [GRCh38]
Chr16:4835848 [GRCh37]
Chr16:4775849 [NCBI36]
Chr16:16p13.3		 not provided
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4740929-4950995)x1 copy number loss See cases [RCV000446335] Chr16:4740929..4950995 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:4541805-5813911)x3 copy number gain See cases [RCV000448804] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_144605.5(SEPTIN12):c.1007G>A (p.Gly336Glu) single nucleotide variant not specified [RCV004294775] Chr16:4777867 [GRCh38]
Chr16:4827868 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
NM_144605.5(SEPTIN12):c.445C>T (p.Arg149Cys) single nucleotide variant not specified [RCV004296878] Chr16:4783998 [GRCh38]
Chr16:4833999 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.860G>C (p.Arg287Thr) single nucleotide variant not specified [RCV004304742] Chr16:4778101 [GRCh38]
Chr16:4828102 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NC_000016.10:g.(?_3727698)_(4802591_?)del deletion Rubinstein-Taybi syndrome [RCV000813975] Chr16:3727698..4802591 [GRCh38]
Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_144605.5(SEPTIN12):c.550T>A (p.Cys184Ser) single nucleotide variant not specified [RCV004288556] Chr16:4783729 [GRCh38]
Chr16:4833730 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 copy number gain not provided [RCV000846351] Chr16:3731117..5325699 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_144605.5(SEPTIN12):c.375-315G>A single nucleotide variant not provided [RCV001598111] Chr16:4784383 [GRCh38]
Chr16:4834384 [GRCh37]
Chr16:16p13.3		 benign
NM_144605.5(SEPTIN12):c.375-96G>A single nucleotide variant not provided [RCV001682353] Chr16:4784164 [GRCh38]
Chr16:4834165 [GRCh37]
Chr16:16p13.3		 benign
NM_144605.5(SEPTIN12):c.727-281C>G single nucleotide variant not provided [RCV001616122] Chr16:4780067 [GRCh38]
Chr16:4830068 [GRCh37]
Chr16:16p13.3		 benign
NC_000016.10:g.(?_3727698)_(4802591_?)dup duplication Amelocerebrohypohidrotic syndrome [RCV001031942] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_144605.5(SEPTIN12):c.726+241A>G single nucleotide variant not provided [RCV001654769] Chr16:4783221 [GRCh38]
Chr16:4833222 [GRCh37]
Chr16:16p13.3		 benign
NM_144605.5(SEPTIN12):c.167-54dup duplication not provided [RCV001682322] Chr16:4786154..4786155 [GRCh38]
Chr16:4836155..4836156 [GRCh37]
Chr16:16p13.3		 benign
NM_144605.5(SEPTIN12):c.375-99G>A single nucleotide variant not provided [RCV001620563] Chr16:4784167 [GRCh38]
Chr16:4834168 [GRCh37]
Chr16:16p13.3		 benign
NM_144605.5(SEPTIN12):c.166+119A>G single nucleotide variant not provided [RCV001717911] Chr16:4787361 [GRCh38]
Chr16:4837362 [GRCh37]
Chr16:16p13.3		 benign
NM_144605.5(SEPTIN12):c.375-309T>G single nucleotide variant not provided [RCV001683996] Chr16:4784377 [GRCh38]
Chr16:4834378 [GRCh37]
Chr16:16p13.3		 benign
NM_144605.5(SEPTIN12):c.102T>C (p.Ala34=) single nucleotide variant not provided [RCV001651821] Chr16:4787544 [GRCh38]
Chr16:4837545 [GRCh37]
Chr16:16p13.3		 benign
NM_144605.5(SEPTIN12):c.726+42T>C single nucleotide variant not provided [RCV001709019] Chr16:4783420 [GRCh38]
Chr16:4833421 [GRCh37]
Chr16:16p13.3		 benign
NM_144605.5(SEPTIN12):c.-22-297A>G single nucleotide variant not provided [RCV001666595] Chr16:4787964 [GRCh38]
Chr16:4837965 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_144605.5(SEPTIN12):c.610C>T (p.Arg204Ter) single nucleotide variant Spermatogenic failure 10 [RCV001334550] Chr16:4783669 [GRCh38]
Chr16:4833670 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_3777699)_(4852592_?)dup duplication Kohlschutter's syndrome [RCV001305610] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.375-255C>T single nucleotide variant not provided [RCV001690424] Chr16:4784323 [GRCh38]
Chr16:4834324 [GRCh37]
Chr16:16p13.3		 benign
NM_144605.5(SEPTIN12):c.374+13dup duplication not provided [RCV001652296] Chr16:4785793..4785794 [GRCh38]
Chr16:4835794..4835795 [GRCh37]
Chr16:16p13.3		 benign
NM_144605.5(SEPTIN12):c.375-273T>C single nucleotide variant not provided [RCV001666159] Chr16:4784341 [GRCh38]
Chr16:4834342 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:4541805-5813911) copy number gain not specified [RCV002052503] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_3293141)_(5971108_?)dup duplication Rubinstein-Taybi syndrome [RCV003113465] Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_144605.5(SEPTIN12):c.626G>A (p.Arg209His) single nucleotide variant not specified [RCV004282604] Chr16:4783653 [GRCh38]
Chr16:4833654 [GRCh37]
Chr16:16p13.3		 likely benign
NM_144605.5(SEPTIN12):c.932G>A (p.Arg311His) single nucleotide variant not specified [RCV004330263] Chr16:4777942 [GRCh38]
Chr16:4827943 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.583A>G (p.Arg195Gly) single nucleotide variant not specified [RCV004268919] Chr16:4783696 [GRCh38]
Chr16:4833697 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.287C>T (p.Thr96Ile) single nucleotide variant not specified [RCV004264971] Chr16:4785985 [GRCh38]
Chr16:4835986 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.22C>T (p.Pro8Ser) single nucleotide variant not specified [RCV004306576] Chr16:4787624 [GRCh38]
Chr16:4837625 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.745G>A (p.Val249Met) single nucleotide variant not provided [RCV003222859] Chr16:4779768 [GRCh38]
Chr16:4829769 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.599C>T (p.Thr200Ile) single nucleotide variant not specified [RCV004344328] Chr16:4783680 [GRCh38]
Chr16:4833681 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.955C>G (p.His319Asp) single nucleotide variant not specified [RCV004356040] Chr16:4777919 [GRCh38]
Chr16:4827920 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.394T>G (p.Tyr132Asp) single nucleotide variant not specified [RCV004359746] Chr16:4784049 [GRCh38]
Chr16:4834050 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3 copy number gain not provided [RCV003485087] Chr16:4462897..5172225 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.905C>T (p.Thr302Ile) single nucleotide variant Spermatogenic failure 10 [RCV003993638] Chr16:4777969 [GRCh38]
Chr16:4827970 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.666C>G (p.Val222=) single nucleotide variant SEPTIN12-related condition [RCV003924171] Chr16:4783522 [GRCh38]
Chr16:4833523 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1 copy number loss not provided [RCV003885471] Chr16:2990033..4837646 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_144605.5(SEPTIN12):c.744C>T (p.Ala248=) single nucleotide variant SEPTIN12-related condition [RCV003909355] Chr16:4779769 [GRCh38]
Chr16:4829770 [GRCh37]
Chr16:16p13.3		 likely benign
NM_144605.5(SEPTIN12):c.506G>A (p.Gly169Glu) single nucleotide variant SEPTIN12-related condition [RCV003954596] Chr16:4783937 [GRCh38]
Chr16:4833938 [GRCh37]
Chr16:16p13.3		 likely benign
NM_144605.5(SEPTIN12):c.1024C>T (p.Arg342Trp) single nucleotide variant not specified [RCV004452963] Chr16:4777850 [GRCh38]
Chr16:4827851 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.110A>C (p.Asp37Ala) single nucleotide variant not specified [RCV004452966] Chr16:4787536 [GRCh38]
Chr16:4837537 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.452G>A (p.Arg151His) single nucleotide variant not specified [RCV004452972] Chr16:4783991 [GRCh38]
Chr16:4833992 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.469C>T (p.Arg157Trp) single nucleotide variant not specified [RCV004452973] Chr16:4783974 [GRCh38]
Chr16:4833975 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.484G>A (p.Val162Met) single nucleotide variant not specified [RCV004452975] Chr16:4783959 [GRCh38]
Chr16:4833960 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.698A>G (p.Asn233Ser) single nucleotide variant not specified [RCV004452983] Chr16:4783490 [GRCh38]
Chr16:4833491 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.6C>A (p.Asp2Glu) single nucleotide variant not specified [RCV004452984] Chr16:4787640 [GRCh38]
Chr16:4837641 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.914T>C (p.Ile305Thr) single nucleotide variant not specified [RCV004452989] Chr16:4777960 [GRCh38]
Chr16:4827961 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.349G>A (p.Gly117Arg) single nucleotide variant not specified [RCV004452970] Chr16:4785832 [GRCh38]
Chr16:4835833 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.544C>T (p.Arg182Trp) single nucleotide variant not specified [RCV004452978] Chr16:4783735 [GRCh38]
Chr16:4833736 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.694A>G (p.Ile232Val) single nucleotide variant not specified [RCV004452982] Chr16:4783494 [GRCh38]
Chr16:4833495 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.700G>A (p.Asp234Asn) single nucleotide variant not specified [RCV004452985] Chr16:4783488 [GRCh38]
Chr16:4833489 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.901A>G (p.Ile301Val) single nucleotide variant not specified [RCV004452988] Chr16:4777973 [GRCh38]
Chr16:4827974 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.1046G>A (p.Gly349Glu) single nucleotide variant not specified [RCV004452964] Chr16:4777828 [GRCh38]
Chr16:4827829 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.283C>A (p.Leu95Met) single nucleotide variant not specified [RCV004452968] Chr16:4785989 [GRCh38]
Chr16:4835990 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.496C>G (p.Pro166Ala) single nucleotide variant not specified [RCV004452976] Chr16:4783947 [GRCh38]
Chr16:4833948 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.551G>A (p.Cys184Tyr) single nucleotide variant not specified [RCV004452979] Chr16:4783728 [GRCh38]
Chr16:4833729 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.28C>G (p.Pro10Ala) single nucleotide variant not specified [RCV004452969] Chr16:4787618 [GRCh38]
Chr16:4837619 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.41C>T (p.Ser14Leu) single nucleotide variant not specified [RCV004452971] Chr16:4787605 [GRCh38]
Chr16:4837606 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.678G>A (p.Met226Ile) single nucleotide variant not specified [RCV004452980] Chr16:4783510 [GRCh38]
Chr16:4833511 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.788T>A (p.Val263Asp) single nucleotide variant not specified [RCV004452987] Chr16:4779725 [GRCh38]
Chr16:4829726 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.931C>T (p.Arg311Cys) single nucleotide variant not specified [RCV004452990] Chr16:4777943 [GRCh38]
Chr16:4827944 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.1048G>A (p.Ala350Thr) single nucleotide variant not specified [RCV004452965] Chr16:4777826 [GRCh38]
Chr16:4827827 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.472G>C (p.Val158Leu) single nucleotide variant not specified [RCV004452974] Chr16:4783971 [GRCh38]
Chr16:4833972 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.517C>T (p.Arg173Trp) single nucleotide variant not specified [RCV004452977] Chr16:4783762 [GRCh38]
Chr16:4833763 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.17G>A (p.Arg6His) single nucleotide variant not specified [RCV004452967] Chr16:4787629 [GRCh38]
Chr16:4837630 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.690G>C (p.Glu230Asp) single nucleotide variant not specified [RCV004452981] Chr16:4783498 [GRCh38]
Chr16:4833499 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.778G>A (p.Gly260Arg) single nucleotide variant not specified [RCV004452986] Chr16:4779735 [GRCh38]
Chr16:4829736 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.973C>A (p.Pro325Thr) single nucleotide variant not specified [RCV004452991] Chr16:4777901 [GRCh38]
Chr16:4827902 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_144605.5(SEPTIN12):c.982G>A (p.Val328Met) single nucleotide variant not specified [RCV004452992] Chr16:4777892 [GRCh38]
Chr16:4827893 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2425
Count of miRNA genes:781
Interacting mature miRNAs:929
Transcripts:ENST00000268231, ENST00000396693, ENST00000587603, ENST00000588241, ENST00000590303, ENST00000590741, ENST00000591624, ENST00000591861
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 adipose tissue appendage entire extraembryonic component
High
Medium 1 1 1 130 367 2
Low 97 16 133 6 29 4 36 60 1482 11 156 56 2 6 25 1
Below cutoff 1920 1849 1109 386 1059 260 2699 1603 1813 196 726 1044 135 641 1735 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001154458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC020663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI554914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ456996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ517531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF620906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK492648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK492649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK492650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000268231   ⟹   ENSP00000268231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,777,606 - 4,788,345 (-)Ensembl
RefSeq Acc Id: ENST00000396693   ⟹   ENSP00000379922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,777,669 - 4,788,346 (-)Ensembl
RefSeq Acc Id: ENST00000587603   ⟹   ENSP00000467237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,777,673 - 4,788,347 (-)Ensembl
RefSeq Acc Id: ENST00000588241   ⟹   ENSP00000464775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,777,669 - 4,785,836 (-)Ensembl
RefSeq Acc Id: ENST00000590303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,785,709 - 4,788,348 (-)Ensembl
RefSeq Acc Id: ENST00000590741   ⟹   ENSP00000468601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,783,931 - 4,788,352 (-)Ensembl
RefSeq Acc Id: ENST00000591624   ⟹   ENSP00000467281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,786,078 - 4,788,254 (-)Ensembl
RefSeq Acc Id: ENST00000591861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,784,239 - 4,788,398 (-)Ensembl
RefSeq Acc Id: NM_001154458   ⟹   NP_001147930
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,777,606 - 4,788,345 (-)NCBI
GRCh37164,827,615 - 4,838,522 (-)NCBI
Celera165,036,441 - 5,047,169 (-)RGD
HuRef164,793,813 - 4,804,752 (-)NCBI
CHM1_1164,828,375 - 4,839,366 (-)NCBI
T2T-CHM13v2.0164,807,061 - 4,817,833 (-)NCBI
Sequence:
RefSeq Acc Id: NM_144605   ⟹   NP_653206
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,777,606 - 4,788,345 (-)NCBI
GRCh37164,827,615 - 4,838,522 (-)NCBI
Build 36164,767,675 - 4,778,348 (-)NCBI Archive
Celera165,036,441 - 5,047,169 (-)RGD
HuRef164,793,813 - 4,804,752 (-)NCBI
CHM1_1164,828,375 - 4,839,366 (-)NCBI
T2T-CHM13v2.0164,807,061 - 4,817,833 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720846   ⟹   XP_006720909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,777,606 - 4,788,345 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522379   ⟹   XP_011520681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,777,606 - 4,787,629 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022938   ⟹   XP_016878427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,777,606 - 4,791,828 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450155   ⟹   XP_024305923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,777,606 - 4,788,345 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054379606   ⟹   XP_054235581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,807,061 - 4,821,315 (-)NCBI
RefSeq Acc Id: XM_054379607   ⟹   XP_054235582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,807,061 - 4,817,783 (-)NCBI
RefSeq Acc Id: XM_054379608   ⟹   XP_054235583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,807,061 - 4,817,035 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_653206   ⟸   NM_144605
- Peptide Label: isoform 2
- UniProtKB: Q1PBH0 (UniProtKB/Swiss-Prot),   Q0P6B0 (UniProtKB/Swiss-Prot),   Q96LL0 (UniProtKB/Swiss-Prot),   Q8IYM1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001147930   ⟸   NM_001154458
- Peptide Label: isoform 1
- UniProtKB: A0A140VJU2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006720909   ⟸   XM_006720846
- Peptide Label: isoform X2
- UniProtKB: Q1PBH0 (UniProtKB/Swiss-Prot),   Q0P6B0 (UniProtKB/Swiss-Prot),   Q96LL0 (UniProtKB/Swiss-Prot),   Q8IYM1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520681   ⟸   XM_011522379
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016878427   ⟸   XM_017022938
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305923   ⟸   XM_024450155
- Peptide Label: isoform X2
- UniProtKB: Q8IYM1 (UniProtKB/Swiss-Prot),   Q1PBH0 (UniProtKB/Swiss-Prot),   Q0P6B0 (UniProtKB/Swiss-Prot),   Q96LL0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000268231   ⟸   ENST00000268231
RefSeq Acc Id: ENSP00000467237   ⟸   ENST00000587603
RefSeq Acc Id: ENSP00000464775   ⟸   ENST00000588241
RefSeq Acc Id: ENSP00000468601   ⟸   ENST00000590741
RefSeq Acc Id: ENSP00000467281   ⟸   ENST00000591624
RefSeq Acc Id: ENSP00000379922   ⟸   ENST00000396693
RefSeq Acc Id: XP_054235581   ⟸   XM_054379606
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235582   ⟸   XM_054379607
- Peptide Label: isoform X2
- UniProtKB: Q8IYM1 (UniProtKB/Swiss-Prot),   Q1PBH0 (UniProtKB/Swiss-Prot),   Q0P6B0 (UniProtKB/Swiss-Prot),   Q96LL0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235583   ⟸   XM_054379608
- Peptide Label: isoform X3
Protein Domains
Septin-type G

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IYM1-F1-model_v2 AlphaFold Q8IYM1 1-358 view protein structure

Promoters
RGD ID:7231229
Promoter ID:EPDNEW_H21360
Type:initiation region
Name:SEPT12_1
Description:septin 12
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
GRCh38164,788,345 - 4,788,405EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26348 AgrOrtholog
COSMIC SEPTIN12 COSMIC
Ensembl Genes ENSG00000140623 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000268231 ENTREZGENE
  ENST00000268231.13 UniProtKB/Swiss-Prot
  ENST00000396693 ENTREZGENE
  ENST00000396693.9 UniProtKB/Swiss-Prot
  ENST00000587603.5 UniProtKB/TrEMBL
  ENST00000588241.5 UniProtKB/TrEMBL
  ENST00000590741.5 UniProtKB/TrEMBL
  ENST00000591624.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140623 GTEx
HGNC ID HGNC:26348 ENTREZGENE
Human Proteome Map SEPTIN12 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:124404 UniProtKB/Swiss-Prot
NCBI Gene 124404 ENTREZGENE
OMIM 611562 OMIM
PANTHER SEPTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEPTIN-12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162402916 PharmGKB
PIRSF Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_SEPTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJU2 ENTREZGENE, UniProtKB/TrEMBL
  K7EIJ5_HUMAN UniProtKB/TrEMBL
  K7EP57_HUMAN UniProtKB/TrEMBL
  K7EP92_HUMAN UniProtKB/TrEMBL
  K7ES86_HUMAN UniProtKB/TrEMBL
  Q0P6B0 ENTREZGENE
  Q1PBH0 ENTREZGENE
  Q8IYM1 ENTREZGENE
  Q96LL0 ENTREZGENE
  SEP12_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q0P6B0 UniProtKB/Swiss-Prot
  Q1PBH0 UniProtKB/Swiss-Prot
  Q96LL0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-09 SEPTIN12  septin 12  SEPT12  septin 12  Symbol and/or name change 5135510 APPROVED