TBC1D23 (TBC1 domain family member 23) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: TBC1D23 (TBC1 domain family member 23) Homo sapiens
Analyze
Symbol: TBC1D23
Name: TBC1 domain family member 23
RGD ID: 1601860
HGNC Page HGNC:25622
Description: Involved in brain development; retrograde transport, endosome to Golgi; and vesicle tethering to Golgi. Located in WASH complex; cytoplasmic vesicle; and trans-Golgi network. Implicated in pontocerebellar hypoplasia type 11.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp667G062; FLJ11046; HCV non-structural protein 4A-transactivated protein 1; HCV nonstructural protein 4A-transactivated protein 1; NS4ATP1; PCH11; TBC1 domain family, member 23
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
GRCh383100,260,992 - 100,325,238 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3100,260,992 - 100,325,251 (+)EnsemblGRCh38hg38GRCh38
GRCh37399,979,836 - 100,044,082 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363101,462,546 - 101,525,205 (+)NCBINCBI36Build 36hg18NCBI36
Celera398,370,265 - 98,434,664 (+)NCBICelera
Cytogenetic Map3q12.1-q12.2NCBI
HuRef397,347,499 - 97,411,898 (+)NCBIHuRef
CHM1_1399,942,694 - 100,007,124 (+)NCBICHM1_1
T2T-CHM13v2.03102,966,332 - 103,030,580 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasmic vesicle  (IDA,IEA)
cytosol  (IEA)
Golgi apparatus  (IDA,IEA)
trans-Golgi network  (IBA,IDA)
WASH complex  (IDA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:19077034   PMID:21516116   PMID:21873635   PMID:21988832   PMID:22312129   PMID:22589738   PMID:24144296   PMID:25416956   PMID:26186194  
PMID:26344197   PMID:28514442   PMID:28718761   PMID:28823706   PMID:28823707   PMID:29084197   PMID:29180619   PMID:29426865   PMID:29568061   PMID:29955894   PMID:31091453   PMID:31623628  
PMID:31624125   PMID:32296183   PMID:32453802   PMID:33961781   PMID:34079125   PMID:34363324   PMID:34369648   PMID:34597346   PMID:34882091   PMID:35271311   PMID:35831314   PMID:35914814  
PMID:37689310   PMID:37903274  


Genomics

Comparative Map Data
TBC1D23
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383100,260,992 - 100,325,238 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3100,260,992 - 100,325,251 (+)EnsemblGRCh38hg38GRCh38
GRCh37399,979,836 - 100,044,082 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363101,462,546 - 101,525,205 (+)NCBINCBI36Build 36hg18NCBI36
Celera398,370,265 - 98,434,664 (+)NCBICelera
Cytogenetic Map3q12.1-q12.2NCBI
HuRef397,347,499 - 97,411,898 (+)NCBIHuRef
CHM1_1399,942,694 - 100,007,124 (+)NCBICHM1_1
T2T-CHM13v2.03102,966,332 - 103,030,580 (+)NCBIT2T-CHM13v2.0
Tbc1d23
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391656,989,225 - 57,051,891 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1656,989,225 - 57,051,867 (-)EnsemblGRCm39 Ensembl
GRCm381657,168,862 - 57,231,528 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1657,168,862 - 57,231,504 (-)EnsemblGRCm38mm10GRCm38
MGSCv371657,168,975 - 57,231,579 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361657,090,221 - 57,152,825 (-)NCBIMGSCv36mm8
Celera1657,502,248 - 57,557,867 (-)NCBICelera
Cytogenetic Map16C1.1NCBI
cM Map1634.22NCBI
Tbc1d23
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81156,772,476 - 56,830,625 (+)NCBIGRCr8
mRatBN7.21143,303,355 - 43,361,507 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1143,303,355 - 43,361,503 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1152,071,380 - 52,129,543 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01144,732,981 - 44,791,147 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01143,857,073 - 43,915,241 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01145,401,396 - 45,459,841 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1145,401,403 - 45,459,821 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01148,594,422 - 48,652,592 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41144,274,253 - 44,285,320 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11144,284,324 - 44,342,915 (+)NCBI
Celera1143,092,874 - 43,151,132 (+)NCBICelera
Cytogenetic Map11q12NCBI
Tbc1d23
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554271,810,096 - 1,852,828 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554271,811,132 - 1,849,348 (+)NCBIChiLan1.0ChiLan1.0
TBC1D23
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2298,203,295 - 98,268,245 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1398,208,092 - 98,273,027 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0397,353,716 - 97,418,083 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13104,035,926 - 104,100,345 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3104,049,807 - 104,098,760 (+)Ensemblpanpan1.1panPan2
TBC1D23
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1336,883,199 - 6,939,788 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl336,883,336 - 6,938,318 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha337,038,751 - 7,095,338 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0337,021,917 - 7,078,683 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl337,021,999 - 7,078,680 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1336,909,713 - 6,966,471 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0336,957,938 - 7,014,541 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0337,287,702 - 7,344,394 (+)NCBIUU_Cfam_GSD_1.0
Tbc1d23
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602150,078,658 - 150,117,616 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366302,978,138 - 3,036,161 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366302,977,477 - 3,049,209 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBC1D23
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13158,665,077 - 158,729,274 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113158,665,083 - 158,729,285 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213168,397,816 - 168,416,370 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TBC1D23
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12280,555,115 - 80,619,251 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2280,554,669 - 80,619,234 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604185,954,511 - 86,018,874 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tbc1d23
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478913,685,089 - 13,753,046 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478913,685,458 - 13,749,820 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TBC1D23
69 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1		 pathogenic
NM_001199198.2(TBC1D23):c.601-1391A>G single nucleotide variant Lung cancer [RCV000092570] Chr3:100293696 [GRCh38]
Chr3:100012540 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.801_802del (p.Asn268fs) deletion Pontocerebellar hypoplasia, type 11 [RCV001333878] Chr3:100296200..100296201 [GRCh38]
Chr3:100015044..100015045 [GRCh37]
Chr3:3q12.1		 pathogenic
NM_001199198.3(TBC1D23):c.1883G>T (p.Gly628Val) single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV001333876] Chr3:100320836 [GRCh38]
Chr3:100039680 [GRCh37]
Chr3:3q12.2		 uncertain significance
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 copy number loss See cases [RCV000135320] Chr3:93819623..116887056 [GRCh38]
Chr3:93538467..116605903 [GRCh37]
Chr3:95021157..118088593 [NCBI36]
Chr3:3q11.1-13.31		 pathogenic
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 copy number loss See cases [RCV000138186] Chr3:97795369..115663349 [GRCh38]
Chr3:97514213..115382196 [GRCh37]
Chr3:98996903..116864886 [NCBI36]
Chr3:3q11.2-13.31		 pathogenic|uncertain significance
GRCh38/hg38 3q12.1-12.2(chr3:99759385-100405781)x1 copy number loss See cases [RCV000139111] Chr3:99759385..100405781 [GRCh38]
Chr3:99478229..100124625 [GRCh37]
Chr3:100960919..101607315 [NCBI36]
Chr3:3q12.1-12.2		 uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3 copy number gain See cases [RCV000143259] Chr3:93819623..103888749 [GRCh38]
Chr3:93538467..103607593 [GRCh37]
Chr3:95021157..105090283 [NCBI36]
Chr3:3q11.1-13.11		 likely pathogenic|uncertain significance
NM_001199198.3(TBC1D23):c.1286T>C (p.Ile429Thr) single nucleotide variant Inborn genetic diseases [RCV002535206]|not provided [RCV000731366] Chr3:100304868 [GRCh38]
Chr3:100023712 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.1687+2T>G single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV000508992]|Pontoneocerebellar hypoplasia [RCV000515797] Chr3:100316189 [GRCh38]
Chr3:100035033 [GRCh37]
Chr3:3q12.2		 pathogenic
NM_001199198.3(TBC1D23):c.1475_1476del (p.Val492fs) microsatellite Pontocerebellar hypoplasia, type 11 [RCV000508996]|Pontoneocerebellar hypoplasia [RCV000515777] Chr3:100310462..100310463 [GRCh38]
Chr3:100029306..100029307 [GRCh37]
Chr3:3q12.2		 pathogenic
NM_001199198.3(TBC1D23):c.1687+2T>A single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV000508997] Chr3:100316189 [GRCh38]
Chr3:100035033 [GRCh37]
Chr3:3q12.2		 pathogenic|likely pathogenic
NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs) indel Pontocerebellar hypoplasia, type 11 [RCV000508999]|Pontoneocerebellar hypoplasia [RCV000515789] Chr3:100310515 [GRCh38]
Chr3:100029359 [GRCh37]
Chr3:3q12.2		 pathogenic
NM_001199198.3(TBC1D23):c.1687+1G>A single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV000509001] Chr3:100316188 [GRCh38]
Chr3:100035032 [GRCh37]
Chr3:3q12.2		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001199198.3(TBC1D23):c.1175T>C (p.Ile392Thr) single nucleotide variant Inborn genetic diseases [RCV003244036] Chr3:100302149 [GRCh38]
Chr3:100020993 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.726A>G (p.Lys242=) single nucleotide variant not provided [RCV000881218] Chr3:100295302 [GRCh38]
Chr3:100014146 [GRCh37]
Chr3:3q12.1		 benign
NM_001199198.3(TBC1D23):c.2055C>G (p.Ala685=) single nucleotide variant not provided [RCV000974999] Chr3:100323623 [GRCh38]
Chr3:100042467 [GRCh37]
Chr3:3q12.2		 benign
NM_001199198.3(TBC1D23):c.1674A>C (p.Glu558Asp) single nucleotide variant Inborn genetic diseases [RCV003249444] Chr3:100316174 [GRCh38]
Chr3:100035018 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser) single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV000987300]|not provided [RCV001572910]|not specified [RCV001727834] Chr3:100279687 [GRCh38]
Chr3:99998531 [GRCh37]
Chr3:3q12.1		 benign|likely benign
NM_001199198.3(TBC1D23):c.454A>G (p.Ile152Val) single nucleotide variant Inborn genetic diseases [RCV003239978] Chr3:100283789 [GRCh38]
Chr3:100002633 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.1466A>G (p.Lys489Arg) single nucleotide variant Inborn genetic diseases [RCV003291792] Chr3:100310455 [GRCh38]
Chr3:100029299 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.1018del (p.Val340fs) deletion Pontocerebellar hypoplasia, type 11 [RCV003229782] Chr3:100299257 [GRCh38]
Chr3:100018101 [GRCh37]
Chr3:3q12.1		 pathogenic
NM_001199198.3(TBC1D23):c.876+27G>T single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV001815602]|not provided [RCV001650389] Chr3:100296302 [GRCh38]
Chr3:100015146 [GRCh37]
Chr3:3q12.1		 benign
NM_001199198.3(TBC1D23):c.54-7T>G single nucleotide variant not provided [RCV000961445] Chr3:100279642 [GRCh38]
Chr3:99998486 [GRCh37]
Chr3:3q12.1		 benign
NM_001199198.3(TBC1D23):c.426C>G (p.Arg142=) single nucleotide variant not provided [RCV000881217] Chr3:100283761 [GRCh38]
Chr3:100002605 [GRCh37]
Chr3:3q12.1		 benign
NM_001199198.3(TBC1D23):c.1677A>G (p.Glu559=) single nucleotide variant not provided [RCV001203387] Chr3:100316177 [GRCh38]
Chr3:100035021 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.460A>G (p.Asn154Asp) single nucleotide variant Inborn genetic diseases [RCV004033570]|not provided [RCV001203388] Chr3:100283795 [GRCh38]
Chr3:100002639 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.458T>C (p.Met153Thr) single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV003230318] Chr3:100283793 [GRCh38]
Chr3:100002637 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.1823+180T>C single nucleotide variant not provided [RCV001598264] Chr3:100319384 [GRCh38]
Chr3:100038228 [GRCh37]
Chr3:3q12.2		 benign
NM_001199198.3(TBC1D23):c.877-218dup duplication not provided [RCV001676140] Chr3:100297695..100297696 [GRCh38]
Chr3:100016539..100016540 [GRCh37]
Chr3:3q12.1		 benign
NM_001199198.3(TBC1D23):c.876+141del deletion not provided [RCV001715293] Chr3:100296406 [GRCh38]
Chr3:100015250 [GRCh37]
Chr3:3q12.1		 benign
NM_001199198.3(TBC1D23):c.876+47C>T single nucleotide variant not provided [RCV001674913] Chr3:100296322 [GRCh38]
Chr3:100015166 [GRCh37]
Chr3:3q12.1		 benign
NM_001199198.3(TBC1D23):c.1688-118G>C single nucleotide variant not provided [RCV001680800] Chr3:100318951 [GRCh38]
Chr3:100037795 [GRCh37]
Chr3:3q12.2		 benign
NM_001199198.3(TBC1D23):c.1687+1G>C single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV001196964] Chr3:100316188 [GRCh38]
Chr3:100035032 [GRCh37]
Chr3:3q12.2		 pathogenic
NM_001199198.3(TBC1D23):c.538C>T (p.Pro180Ser) single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV001333877] Chr3:100290639 [GRCh38]
Chr3:100009483 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.1599-94A>T single nucleotide variant not provided [RCV001538500] Chr3:100316005 [GRCh38]
Chr3:100034849 [GRCh37]
Chr3:3q12.2		 benign
NM_001199198.3(TBC1D23):c.951_954del (p.Cys317fs) deletion not provided [RCV001268250] Chr3:100297995..100297998 [GRCh38]
Chr3:100016839..100016842 [GRCh37]
Chr3:3q12.1		 likely pathogenic
GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1 copy number loss not provided [RCV001259224] Chr3:95563096..102371126 [GRCh37]
Chr3:3q11.2-12.3		 likely pathogenic
NM_001199198.3(TBC1D23):c.1327G>A (p.Asp443Asn) single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV001330480] Chr3:100306457 [GRCh38]
Chr3:100025301 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.170C>T (p.Ala57Val) single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV001330481] Chr3:100281746 [GRCh38]
Chr3:100000590 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.1029C>A (p.Cys343Ter) single nucleotide variant Inborn genetic diseases [RCV002897707]|not provided [RCV003318746] Chr3:100299268 [GRCh38]
Chr3:100018112 [GRCh37]
Chr3:3q12.1		 pathogenic|uncertain significance
NM_001199198.3(TBC1D23):c.1306+201T>A single nucleotide variant not provided [RCV001538770] Chr3:100305089 [GRCh38]
Chr3:100023933 [GRCh37]
Chr3:3q12.2		 benign
NM_001199198.3(TBC1D23):c.1823+235dup duplication not provided [RCV001539861] Chr3:100319430..100319431 [GRCh38]
Chr3:100038274..100038275 [GRCh37]
Chr3:3q12.2		 benign
NM_001199198.3(TBC1D23):c.1004G>T (p.Gly335Val) single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV001376033] Chr3:100299243 [GRCh38]
Chr3:100018087 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.1413+224del deletion not provided [RCV001707040] Chr3:100306767 [GRCh38]
Chr3:100025611 [GRCh37]
Chr3:3q12.2		 benign
NM_001199198.3(TBC1D23):c.1414-74A>G single nucleotide variant not provided [RCV001651928] Chr3:100310329 [GRCh38]
Chr3:100029173 [GRCh37]
Chr3:3q12.2		 benign
NM_001199198.3(TBC1D23):c.676G>C (p.Asp226His) single nucleotide variant not provided [RCV001728145] Chr3:100295162 [GRCh38]
Chr3:100014006 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.1092+2T>A single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV001785050] Chr3:100299333 [GRCh38]
Chr3:100018177 [GRCh37]
Chr3:3q12.1		 pathogenic
NM_001199198.3(TBC1D23):c.614_615del (p.Phe205fs) deletion Pontocerebellar hypoplasia, type 11 [RCV001783847] Chr3:100295097..100295098 [GRCh38]
Chr3:100013941..100013942 [GRCh37]
Chr3:3q12.1		 likely pathogenic
NM_001199198.3(TBC1D23):c.1554-49dup duplication Pontocerebellar hypoplasia, type 11 [RCV001815649] Chr3:100311783..100311784 [GRCh38]
Chr3:100030627..100030628 [GRCh37]
Chr3:3q12.2		 benign
NM_001199198.3(TBC1D23):c.630del (p.Thr211fs) deletion Pontocerebellar hypoplasia, type 11 [RCV001785049] Chr3:100295115 [GRCh38]
Chr3:100013959 [GRCh37]
Chr3:3q12.1		 pathogenic|likely pathogenic
NM_001199198.3(TBC1D23):c.1306+10T>C single nucleotide variant not specified [RCV001822181] Chr3:100304898 [GRCh38]
Chr3:100023742 [GRCh37]
Chr3:3q12.2		 likely benign
NM_001199198.3(TBC1D23):c.423A>G (p.Pro141=) single nucleotide variant not provided [RCV003326587]|not specified [RCV001817116] Chr3:100283758 [GRCh38]
Chr3:100002602 [GRCh37]
Chr3:3q12.1		 benign|likely benign
NM_001199198.3(TBC1D23):c.1031G>A (p.Arg344His) single nucleotide variant not provided [RCV002265493] Chr3:100299270 [GRCh38]
Chr3:100018114 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.424C>A (p.Arg142Ser) single nucleotide variant not provided [RCV002265211] Chr3:100283759 [GRCh38]
Chr3:100002603 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.1801G>T (p.Glu601Ter) single nucleotide variant not provided [RCV002474082] Chr3:100319182 [GRCh38]
Chr3:100038026 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.1021G>T (p.Val341Leu) single nucleotide variant Inborn genetic diseases [RCV002772033] Chr3:100299260 [GRCh38]
Chr3:100018104 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.1892A>G (p.Tyr631Cys) single nucleotide variant Inborn genetic diseases [RCV002772967] Chr3:100320845 [GRCh38]
Chr3:100039689 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.1345C>T (p.Pro449Ser) single nucleotide variant Inborn genetic diseases [RCV002694736] Chr3:100306475 [GRCh38]
Chr3:100025319 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.1291A>G (p.Ser431Gly) single nucleotide variant Inborn genetic diseases [RCV002887224] Chr3:100304873 [GRCh38]
Chr3:100023717 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.1642G>A (p.Val548Ile) single nucleotide variant Inborn genetic diseases [RCV002822618] Chr3:100316142 [GRCh38]
Chr3:100034986 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.2019-5C>T single nucleotide variant Inborn genetic diseases [RCV002844209] Chr3:100323582 [GRCh38]
Chr3:100042426 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.1424C>T (p.Pro475Leu) single nucleotide variant Inborn genetic diseases [RCV002950131] Chr3:100310413 [GRCh38]
Chr3:100029257 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.406G>A (p.Val136Met) single nucleotide variant Inborn genetic diseases [RCV002703851] Chr3:100283741 [GRCh38]
Chr3:100002585 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.983C>T (p.Ala328Val) single nucleotide variant Inborn genetic diseases [RCV002693331] Chr3:100298029 [GRCh38]
Chr3:100016873 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.272-5T>C single nucleotide variant Inborn genetic diseases [RCV002798931] Chr3:100283602 [GRCh38]
Chr3:100002446 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.1072T>C (p.Phe358Leu) single nucleotide variant Inborn genetic diseases [RCV002916247] Chr3:100299311 [GRCh38]
Chr3:100018155 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.430G>A (p.Asp144Asn) single nucleotide variant Inborn genetic diseases [RCV002764535] Chr3:100283765 [GRCh38]
Chr3:100002609 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.298G>A (p.Ala100Thr) single nucleotide variant Inborn genetic diseases [RCV002669348] Chr3:100283633 [GRCh38]
Chr3:100002477 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.794C>G (p.Ser265Cys) single nucleotide variant Inborn genetic diseases [RCV002959612] Chr3:100296193 [GRCh38]
Chr3:100015037 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.860C>T (p.Pro287Leu) single nucleotide variant Inborn genetic diseases [RCV002835505] Chr3:100296259 [GRCh38]
Chr3:100015103 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.119T>C (p.Ile40Thr) single nucleotide variant Inborn genetic diseases [RCV002989163] Chr3:100279714 [GRCh38]
Chr3:99998558 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.424C>T (p.Arg142Cys) single nucleotide variant Inborn genetic diseases [RCV002832176] Chr3:100283759 [GRCh38]
Chr3:100002603 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.679C>G (p.Pro227Ala) single nucleotide variant Inborn genetic diseases [RCV002717813] Chr3:100295165 [GRCh38]
Chr3:100014009 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.1783C>T (p.Pro595Ser) single nucleotide variant Inborn genetic diseases [RCV002680274] Chr3:100319164 [GRCh38]
Chr3:100038008 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.53+100G>A single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV003140878] Chr3:100261171 [GRCh38]
Chr3:99980015 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.1505G>A (p.Arg502Lys) single nucleotide variant Pontocerebellar hypoplasia, type 11 [RCV003140879] Chr3:100310494 [GRCh38]
Chr3:100029338 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.2008G>T (p.Ala670Ser) single nucleotide variant Inborn genetic diseases [RCV003207727] Chr3:100320961 [GRCh38]
Chr3:100039805 [GRCh37]
Chr3:3q12.2		 uncertain significance
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003327614] Chr3:93979547..124774010 [GRCh38]
Chr3:3q11.1-21.2		 pathogenic
NM_001199198.3(TBC1D23):c.1661T>C (p.Ile554Thr) single nucleotide variant Inborn genetic diseases [RCV003360292] Chr3:100316161 [GRCh38]
Chr3:100035005 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.721G>C (p.Ala241Pro) single nucleotide variant Inborn genetic diseases [RCV003368929] Chr3:100295207 [GRCh38]
Chr3:100014051 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.232G>A (p.Glu78Lys) single nucleotide variant Inborn genetic diseases [RCV003349463] Chr3:100281808 [GRCh38]
Chr3:100000652 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.249C>G (p.His83Gln) single nucleotide variant Inborn genetic diseases [RCV003353457] Chr3:100281825 [GRCh38]
Chr3:100000669 [GRCh37]
Chr3:3q12.1		 likely benign
NM_001199198.3(TBC1D23):c.1275A>C (p.Glu425Asp) single nucleotide variant Inborn genetic diseases [RCV003351843] Chr3:100304857 [GRCh38]
Chr3:100023701 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.324A>G (p.Glu108=) single nucleotide variant TBC1D23-related condition [RCV003908942]|not provided [RCV003437930] Chr3:100283659 [GRCh38]
Chr3:100002503 [GRCh37]
Chr3:3q12.1		 likely benign
NM_001199198.3(TBC1D23):c.1306+3A>G single nucleotide variant TBC1D23-related condition [RCV003392831] Chr3:100304891 [GRCh38]
Chr3:100023735 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.13G>A (p.Glu5Lys) single nucleotide variant not provided [RCV003437929] Chr3:100261031 [GRCh38]
Chr3:99979875 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.735T>C (p.Ile245=) single nucleotide variant TBC1D23-related condition [RCV003939320] Chr3:100295311 [GRCh38]
Chr3:100014155 [GRCh37]
Chr3:3q12.1		 benign
GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3 copy number gain not specified [RCV003986472] Chr3:93519465..101464485 [GRCh37]
Chr3:3q11.1-12.3		 uncertain significance
NM_001199198.3(TBC1D23):c.2019-10del deletion TBC1D23-related condition [RCV003961665] Chr3:100323570 [GRCh38]
Chr3:100042414 [GRCh37]
Chr3:3q12.2		 likely benign
NM_001199198.3(TBC1D23):c.1342G>A (p.Gly448Arg) single nucleotide variant TBC1D23-related condition [RCV003966770] Chr3:100306472 [GRCh38]
Chr3:100025316 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.899G>C (p.Ser300Thr) single nucleotide variant TBC1D23-related condition [RCV003924692] Chr3:100297945 [GRCh38]
Chr3:100016789 [GRCh37]
Chr3:3q12.1		 benign
NM_001199198.3(TBC1D23):c.2013C>A (p.Ile671=) single nucleotide variant TBC1D23-related condition [RCV003923958] Chr3:100320966 [GRCh38]
Chr3:100039810 [GRCh37]
Chr3:3q12.2		 likely benign
NM_001199198.3(TBC1D23):c.1023G>A (p.Val341=) single nucleotide variant TBC1D23-related condition [RCV003974182] Chr3:100299262 [GRCh38]
Chr3:100018106 [GRCh37]
Chr3:3q12.1		 likely benign
NM_001199198.3(TBC1D23):c.1554-4A>G single nucleotide variant TBC1D23-related condition [RCV003924027] Chr3:100311829 [GRCh38]
Chr3:100030673 [GRCh37]
Chr3:3q12.2		 likely benign
NM_001199198.3(TBC1D23):c.612T>C (p.Leu204=) single nucleotide variant TBC1D23-related condition [RCV003894338] Chr3:100295098 [GRCh38]
Chr3:100013942 [GRCh37]
Chr3:3q12.1		 likely benign
NM_001199198.3(TBC1D23):c.543G>A (p.Glu181=) single nucleotide variant TBC1D23-related condition [RCV003974283] Chr3:100290644 [GRCh38]
Chr3:100009488 [GRCh37]
Chr3:3q12.1		 likely benign
NM_001199198.3(TBC1D23):c.1010G>A (p.Arg337Gln) single nucleotide variant Inborn genetic diseases [RCV004473905] Chr3:100299249 [GRCh38]
Chr3:100018093 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.131C>T (p.Pro44Leu) single nucleotide variant Inborn genetic diseases [RCV004473906] Chr3:100279726 [GRCh38]
Chr3:99998570 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.1468A>G (p.Met490Val) single nucleotide variant Inborn genetic diseases [RCV004473908] Chr3:100310457 [GRCh38]
Chr3:100029301 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.1519A>G (p.Ser507Gly) single nucleotide variant Inborn genetic diseases [RCV004473909] Chr3:100310508 [GRCh38]
Chr3:100029352 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.536A>T (p.Glu179Val) single nucleotide variant Inborn genetic diseases [RCV004473912] Chr3:100290637 [GRCh38]
Chr3:100009481 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.1630C>A (p.Pro544Thr) single nucleotide variant Inborn genetic diseases [RCV004473910] Chr3:100316130 [GRCh38]
Chr3:100034974 [GRCh37]
Chr3:3q12.2		 uncertain significance
NM_001199198.3(TBC1D23):c.274C>G (p.Gln92Glu) single nucleotide variant Inborn genetic diseases [RCV004473911] Chr3:100283609 [GRCh38]
Chr3:100002453 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.89G>A (p.Gly30Asp) single nucleotide variant Inborn genetic diseases [RCV004473913] Chr3:100279684 [GRCh38]
Chr3:99998528 [GRCh37]
Chr3:3q12.1		 uncertain significance
NM_001199198.3(TBC1D23):c.975C>G (p.Ile325Met) single nucleotide variant Inborn genetic diseases [RCV004473914] Chr3:100298021 [GRCh38]
Chr3:100016865 [GRCh37]
Chr3:3q12.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1552
Count of miRNA genes:608
Interacting mature miRNAs:693
Transcripts:ENST00000344949, ENST00000394144, ENST00000471098, ENST00000471273, ENST00000475134, ENST00000484231, ENST00000485687, ENST00000486274, ENST00000496167
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.

Markers in Region
RH121514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37399,996,144 - 99,996,437UniSTSGRCh37
Build 363101,478,834 - 101,479,127RGDNCBI36
Celera398,386,723 - 98,387,016RGD
Cytogenetic Map3q12.2UniSTS
HuRef397,363,985 - 97,364,278UniSTS
TNG Radiation Hybrid Map357903.0UniSTS
STS-D59625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373100,043,784 - 100,043,996UniSTSGRCh37
Build 363101,526,474 - 101,526,686RGDNCBI36
Celera398,434,366 - 98,434,578RGD
Cytogenetic Map3q12.2UniSTS
HuRef397,411,586 - 97,411,798UniSTS
GeneMap99-GB4 RH Map3347.02UniSTS
RH47353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373100,043,875 - 100,043,961UniSTSGRCh37
Build 363101,526,565 - 101,526,651RGDNCBI36
Celera398,434,457 - 98,434,543RGD
Cytogenetic Map3q12.2UniSTS
HuRef397,411,677 - 97,411,763UniSTS
GeneMap99-GB4 RH Map3358.55UniSTS
SHGC-77153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373100,043,833 - 100,043,971UniSTSGRCh37
Build 363101,526,523 - 101,526,661RGDNCBI36
Celera398,434,415 - 98,434,553RGD
Cytogenetic Map3q12.2UniSTS
HuRef397,411,635 - 97,411,773UniSTS
TNG Radiation Hybrid Map357920.0UniSTS
GeneMap99-GB4 RH Map3358.88UniSTS
NCBI RH Map3820.1UniSTS
SHGC-33725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373100,043,931 - 100,044,013UniSTSGRCh37
Build 363101,526,621 - 101,526,703RGDNCBI36
Celera398,434,513 - 98,434,595RGD
Cytogenetic Map3q12.2UniSTS
HuRef397,411,733 - 97,411,815UniSTS
TNG Radiation Hybrid Map357939.0UniSTS
GeneMap99-GB4 RH Map3355.0UniSTS
Whitehead-RH Map3427.0UniSTS
Whitehead-RH Map3426.3UniSTS
D3S3387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373100,007,123 - 100,007,222UniSTSGRCh37
Build 363101,489,813 - 101,489,912RGDNCBI36
Celera398,397,702 - 98,397,801RGD
Cytogenetic Map3q12.2UniSTS
HuRef397,374,964 - 97,375,063UniSTS
Whitehead-RH Map3426.6UniSTS
Whitehead-YAC Contig Map3 UniSTS
TBC1D23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373100,002,471 - 100,002,622UniSTSGRCh37
Celera398,393,050 - 98,393,201UniSTS
HuRef397,370,312 - 97,370,463UniSTS


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 pharyngeal arch
High
Medium 2071 1575 1438 361 1253 213 3930 1353 1807 299 1385 1590 161 1160 2389 3
Low 361 1406 285 261 692 251 426 840 1901 119 63 18 10 44 399 1
Below cutoff 4 5 1 2 4 1 11 1 9 2 2 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001199198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB449910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU154297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY740521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA801258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB458401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000344949   ⟹   ENSP00000340693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3100,261,001 - 100,325,251 (+)Ensembl
RefSeq Acc Id: ENST00000394144   ⟹   ENSP00000377700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3100,260,992 - 100,325,238 (+)Ensembl
RefSeq Acc Id: ENST00000471098   ⟹   ENSP00000418714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3100,267,192 - 100,290,656 (+)Ensembl
RefSeq Acc Id: ENST00000471273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3100,315,863 - 100,325,234 (+)Ensembl
RefSeq Acc Id: ENST00000475134   ⟹   ENSP00000418059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3100,279,440 - 100,323,691 (+)Ensembl
RefSeq Acc Id: ENST00000484231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3100,279,648 - 100,284,049 (+)Ensembl
RefSeq Acc Id: ENST00000485687   ⟹   ENSP00000417487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3100,261,000 - 100,290,645 (+)Ensembl
RefSeq Acc Id: ENST00000486274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3100,261,064 - 100,325,238 (+)Ensembl
RefSeq Acc Id: ENST00000496167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3100,301,839 - 100,310,421 (+)Ensembl
RefSeq Acc Id: NM_001199198   ⟹   NP_001186127
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383100,260,992 - 100,325,238 (+)NCBI
GRCh37399,979,661 - 100,044,096 (+)NCBI
HuRef397,347,499 - 97,411,898 (+)NCBI
CHM1_1399,942,694 - 100,007,124 (+)NCBI
T2T-CHM13v2.03102,966,332 - 103,030,580 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018309   ⟹   NP_060779
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383100,260,992 - 100,325,238 (+)NCBI
GRCh37399,979,661 - 100,044,096 (+)NCBI
Build 363101,462,546 - 101,525,205 (+)NCBI Archive
Celera398,370,265 - 98,434,664 (+)RGD
HuRef397,347,499 - 97,411,898 (+)NCBI
CHM1_1399,942,694 - 100,007,124 (+)NCBI
T2T-CHM13v2.03102,966,332 - 103,030,580 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006841   ⟹   XP_016862330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383100,290,634 - 100,325,238 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047448562   ⟹   XP_047304518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383100,290,639 - 100,325,238 (+)NCBI
RefSeq Acc Id: XM_054347241   ⟹   XP_054203216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03102,995,982 - 103,030,580 (+)NCBI
RefSeq Acc Id: XM_054347242   ⟹   XP_054203217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03102,995,977 - 103,030,580 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_060779   ⟸   NM_018309
- Peptide Label: isoform 2
- UniProtKB: Q9NUY8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001186127   ⟸   NM_001199198
- Peptide Label: isoform 1
- UniProtKB: Q96D90 (UniProtKB/Swiss-Prot),   Q8WUB7 (UniProtKB/Swiss-Prot),   Q8TCN8 (UniProtKB/Swiss-Prot),   B9A6M5 (UniProtKB/Swiss-Prot),   Q9NV75 (UniProtKB/Swiss-Prot),   Q9NUY8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016862330   ⟸   XM_017006841
- Peptide Label: isoform X2
- UniProtKB: E9PGE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000417487   ⟸   ENST00000485687
RefSeq Acc Id: ENSP00000418714   ⟸   ENST00000471098
RefSeq Acc Id: ENSP00000377700   ⟸   ENST00000394144
RefSeq Acc Id: ENSP00000418059   ⟸   ENST00000475134
RefSeq Acc Id: ENSP00000340693   ⟸   ENST00000344949
RefSeq Acc Id: XP_047304518   ⟸   XM_047448562
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203217   ⟸   XM_054347242
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054203216   ⟸   XM_054347241
- Peptide Label: isoform X1
Protein Domains
Rab-GAP TBC   Rhodanese

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NUY8-F1-model_v2 AlphaFold Q9NUY8 1-699 view protein structure

Promoters
RGD ID:6865112
Promoter ID:EPDNEW_H5721
Type:initiation region
Name:TBC1D23_1
Description:TBC1 domain family member 23
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383100,260,992 - 100,261,052EPDNEW
RGD ID:6801750
Promoter ID:HG_KWN:45681
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018309,   UC003DTT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363101,462,279 - 101,462,779 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25622 AgrOrtholog
COSMIC TBC1D23 COSMIC
Ensembl Genes ENSG00000036054 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000344949 ENTREZGENE
  ENST00000344949.9 UniProtKB/Swiss-Prot
  ENST00000394144 ENTREZGENE
  ENST00000394144.9 UniProtKB/Swiss-Prot
  ENST00000471098.1 UniProtKB/TrEMBL
  ENST00000475134.1 UniProtKB/TrEMBL
  ENST00000485687.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ypt/Rab-GAP domain of gyp1p, domain 1 UniProtKB/TrEMBL
  Ypt/Rab-GAP domain of gyp1p, domain 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000036054 GTEx
HGNC ID HGNC:25622 ENTREZGENE
Human Proteome Map TBC1D23 Human Proteome Map
InterPro Rab-GTPase-TBC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab-GTPase_TBC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhodanese-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhodanese-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC1D23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC1D23_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55773 UniProtKB/Swiss-Prot
NCBI Gene 55773 ENTREZGENE
OMIM 617687 OMIM
PANTHER PTHR13297 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC1 DOMAIN FAMILY MEMBER 23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RabGAP-TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhodanese UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC1D23_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670829 PharmGKB
PROSITE RHODANESE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC_RABGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TBC UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47923 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52821 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B9A6M5 ENTREZGENE
  C9IZ32_HUMAN UniProtKB/TrEMBL
  C9JAM5_HUMAN UniProtKB/TrEMBL
  E9PGE5 ENTREZGENE, UniProtKB/TrEMBL
  Q8TCN8 ENTREZGENE
  Q8WUB7 ENTREZGENE
  Q96D90 ENTREZGENE
  Q9NUY8 ENTREZGENE
  Q9NV75 ENTREZGENE
  TBC23_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B9A6M5 UniProtKB/Swiss-Prot
  Q8TCN8 UniProtKB/Swiss-Prot
  Q8WUB7 UniProtKB/Swiss-Prot
  Q96D90 UniProtKB/Swiss-Prot
  Q9NV75 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TBC1D23  TBC1 domain family member 23    TBC1 domain family, member 23  Symbol and/or name change 5135510 APPROVED