TBC1D2B (TBC1 domain family member 2B) - Rat Genome Database

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Gene: TBC1D2B (TBC1 domain family member 2B) Homo sapiens
Analyze
Symbol: TBC1D2B
Name: TBC1 domain family member 2B
RGD ID: 1604393
HGNC Page HGNC:29183
Description: Predicted to enable GTPase activator activity. Involved in endocytosis. Located in cytosol and early endosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ20166; KIAA1055; NEDSGO; TBC1 domain family, member 2B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC022748.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381577,994,985 - 78,077,711 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1577,984,036 - 78,077,724 (-)EnsemblGRCh38hg38GRCh38
GRCh371578,287,327 - 78,370,053 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361576,074,383 - 76,156,912 (-)NCBINCBI36Build 36hg18NCBI36
Celera1555,223,349 - 55,306,006 (-)NCBICelera
Cytogenetic Map15q24.3-q25.1NCBI
HuRef1555,044,906 - 55,127,542 (-)NCBIHuRef
CHM1_11578,405,273 - 78,487,934 (-)NCBICHM1_1
T2T-CHM13v2.01575,857,528 - 75,940,258 (-)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

Biological Process

Cellular Component
cytosol  (IDA)
early endosome  (IDA,IEA)
endosome  (IEA)

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:10470851   PMID:12477932   PMID:16751776   PMID:17646400   PMID:20379614   PMID:20562859   PMID:21873635   PMID:21988832   PMID:22199357   PMID:22354992   PMID:22990118   PMID:26186194  
PMID:26638075   PMID:26673895   PMID:28514442   PMID:29117863   PMID:29395067   PMID:29778605   PMID:31586073   PMID:31719531   PMID:31871319   PMID:32623794   PMID:32908313   PMID:33961781  
PMID:34079125   PMID:36029130   PMID:37232246   PMID:37689310  


Genomics

Comparative Map Data
TBC1D2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381577,994,985 - 78,077,711 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1577,984,036 - 78,077,724 (-)EnsemblGRCh38hg38GRCh38
GRCh371578,287,327 - 78,370,053 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361576,074,383 - 76,156,912 (-)NCBINCBI36Build 36hg18NCBI36
Celera1555,223,349 - 55,306,006 (-)NCBICelera
Cytogenetic Map15q24.3-q25.1NCBI
HuRef1555,044,906 - 55,127,542 (-)NCBIHuRef
CHM1_11578,405,273 - 78,487,934 (-)NCBICHM1_1
T2T-CHM13v2.01575,857,528 - 75,940,258 (-)NCBIT2T-CHM13v2.0
Tbc1d2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39990,084,100 - 90,152,861 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl990,084,080 - 90,152,857 (-)EnsemblGRCm39 Ensembl
GRCm38990,202,047 - 90,270,772 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl990,202,027 - 90,270,804 (-)EnsemblGRCm38mm10GRCm38
MGSCv37990,096,885 - 90,165,607 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36989,999,940 - 90,068,662 (-)NCBIMGSCv36mm8
Celera989,816,380 - 89,885,249 (-)NCBICelera
Cytogenetic Map9E3.1NCBI
cM Map947.48NCBI
Tbc1d2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8899,626,019 - 99,694,669 (-)NCBIGRCr8
mRatBN7.2890,746,220 - 90,814,867 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl890,746,233 - 90,814,832 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx896,426,206 - 96,494,417 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0894,625,630 - 94,693,850 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0892,473,463 - 92,541,855 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0897,577,551 - 97,647,072 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl897,577,565 - 97,647,072 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0897,076,261 - 97,145,782 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4895,110,183 - 95,178,776 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1895,132,610 - 95,204,190 (-)NCBI
Celera890,288,585 - 90,357,162 (-)NCBICelera
Cytogenetic Map8q31NCBI
Tbc1d2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955450582,223 - 641,876 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955450579,651 - 642,237 (-)NCBIChiLan1.0ChiLan1.0
TBC1D2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21667,207,937 - 67,291,319 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11571,373,488 - 71,456,845 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01556,923,368 - 57,006,708 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11575,890,620 - 75,972,066 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1575,874,740 - 75,972,020 (-)Ensemblpanpan1.1panPan2
TBC1D2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1358,225,099 - 58,285,519 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl358,226,184 - 58,286,204 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha360,886,603 - 60,948,432 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0358,662,997 - 58,725,973 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1358,159,522 - 58,223,334 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0358,367,731 - 58,429,546 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0358,716,864 - 58,783,875 (-)NCBIUU_Cfam_GSD_1.0
Tbc1d2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640119,057,622 - 119,128,856 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647136,905,684 - 36,981,220 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647136,905,690 - 36,976,916 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBC1D2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl747,839,392 - 47,929,092 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1747,839,380 - 47,927,287 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2753,408,412 - 53,450,431 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TBC1D2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1265,276,348 - 5,358,247 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl265,276,533 - 5,360,373 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048136,447,551 - 136,526,509 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tbc1d2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248942,718,892 - 2,780,241 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248942,719,441 - 2,780,251 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TBC1D2B
64 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3 copy number gain See cases [RCV000050915] Chr15:77640317..78459174 [GRCh38]
Chr15:77932659..78751516 [GRCh37]
Chr15:75719714..76538571 [NCBI36]
Chr15:15q24.3-25.1		 uncertain significance
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3		 pathogenic
NM_015079.5(TBC1D2B):c.684-430A>T single nucleotide variant Lung cancer [RCV000099670] Chr15:78030600 [GRCh38]
Chr15:78322942 [GRCh37]
Chr15:15q25.1		 uncertain significance
GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1 copy number loss See cases [RCV000137079] Chr15:76006154..79982417 [GRCh38]
Chr15:76298495..80274759 [GRCh37]
Chr15:74085550..78061814 [NCBI36]
Chr15:15q24.2-25.1		 pathogenic|uncertain significance
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3		 pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_144572.2(TBC1D2B):c.343G>A (p.Ala115Thr) single nucleotide variant Inborn genetic diseases [RCV003257097] Chr15:78077310 [GRCh38]
Chr15:78369652 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.1258G>A (p.Glu420Lys) single nucleotide variant Inborn genetic diseases [RCV003287889] Chr15:78024368 [GRCh38]
Chr15:78316710 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.919A>G (p.Ile307Val) single nucleotide variant Inborn genetic diseases [RCV003252969] Chr15:78025426 [GRCh38]
Chr15:78317768 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.1655C>T (p.Pro552Leu) single nucleotide variant Inborn genetic diseases [RCV003256568] Chr15:78016666 [GRCh38]
Chr15:78309008 [GRCh37]
Chr15:15q25.1		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.3-25.1(chr15:78193071-78767884)x3 copy number gain not provided [RCV000683711] Chr15:78193071..78767884 [GRCh37]
Chr15:15q24.3-25.1		 uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_144572.2(TBC1D2B):c.2173T>A (p.Ser725Thr) single nucleotide variant Inborn genetic diseases [RCV003246018] Chr15:78012920 [GRCh38]
Chr15:78305262 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.848-5T>C single nucleotide variant not provided [RCV000894706] Chr15:78025502 [GRCh38]
Chr15:78317844 [GRCh37]
Chr15:15q25.1		 benign|likely benign
NM_144572.2(TBC1D2B):c.36C>G (p.Gly12=) single nucleotide variant not provided [RCV000947638] Chr15:78077617 [GRCh38]
Chr15:78369959 [GRCh37]
Chr15:15q25.1		 likely benign
NM_144572.2(TBC1D2B):c.2456A>G (p.Gln819Arg) single nucleotide variant not provided [RCV000885682] Chr15:78003423 [GRCh38]
Chr15:78295765 [GRCh37]
Chr15:15q25.1		 likely benign
GRCh37/hg19 15q24.3-25.1(chr15:78024643-78426363)x3 copy number gain not provided [RCV001006713] Chr15:78024643..78426363 [GRCh37]
Chr15:15q24.3-25.1		 uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_144572.2(TBC1D2B):c.2295C>G (p.Tyr765Ter) single nucleotide variant Neurodevelopmental disorder with seizures and gingival overgrowth [RCV001421003] Chr15:78009090 [GRCh38]
Chr15:78301432 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_144572.2(TBC1D2B):c.426dup (p.Asn143Ter) duplication Neurodevelopmental disorder with seizures and gingival overgrowth [RCV001421000] Chr15:78054121..78054122 [GRCh38]
Chr15:78346463..78346464 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_144572.2(TBC1D2B):c.1480C>T (p.Gln494Ter) single nucleotide variant Neurodevelopmental disorder with seizures and gingival overgrowth [RCV001421001] Chr15:78017948 [GRCh38]
Chr15:78310290 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_144572.2(TBC1D2B):c.658_659del (p.Leu220fs) deletion Neurodevelopmental disorder with seizures and gingival overgrowth [RCV001421002] Chr15:78044924..78044925 [GRCh38]
Chr15:78337266..78337267 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_144572.2(TBC1D2B):c.2378T>A (p.Leu793Ter) single nucleotide variant Neurodevelopmental disorder with seizures and gingival overgrowth [RCV001420999] Chr15:78009007 [GRCh38]
Chr15:78301349 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_144572.2(TBC1D2B):c.425delinsTT (p.Cys142fs) indel Neurodevelopmental disorder with seizures and gingival overgrowth [RCV002244266] Chr15:78054123 [GRCh38]
Chr15:78346465 [GRCh37]
Chr15:15q25.1		 likely pathogenic
NM_144572.2(TBC1D2B):c.2270+4G>A single nucleotide variant not provided [RCV002262481] Chr15:78012819 [GRCh38]
Chr15:78305161 [GRCh37]
Chr15:15q25.1		 benign
NM_144572.2(TBC1D2B):c.1843G>A (p.Val615Ile) single nucleotide variant Inborn genetic diseases [RCV002771694] Chr15:78013250 [GRCh38]
Chr15:78305592 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.2471A>G (p.Tyr824Cys) single nucleotide variant Inborn genetic diseases [RCV002681985] Chr15:78003408 [GRCh38]
Chr15:78295750 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.1159T>C (p.Cys387Arg) single nucleotide variant Inborn genetic diseases [RCV002779808] Chr15:78024467 [GRCh38]
Chr15:78316809 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.1149C>G (p.Ser383Arg) single nucleotide variant Inborn genetic diseases [RCV002817642] Chr15:78024477 [GRCh38]
Chr15:78316819 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.32GCG[7] (p.Gly15_Glu16insGlyGly) microsatellite Inborn genetic diseases [RCV002973734] Chr15:78077606..78077607 [GRCh38]
Chr15:78369948..78369949 [GRCh37]
Chr15:15q25.1		 likely benign
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_144572.2(TBC1D2B):c.1153C>T (p.Arg385Trp) single nucleotide variant Inborn genetic diseases [RCV002924676] Chr15:78024473 [GRCh38]
Chr15:78316815 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.2342T>C (p.Val781Ala) single nucleotide variant Inborn genetic diseases [RCV002705029] Chr15:78009043 [GRCh38]
Chr15:78301385 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.1421C>T (p.Pro474Leu) single nucleotide variant Inborn genetic diseases [RCV002693344] Chr15:78024205 [GRCh38]
Chr15:78316547 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.281C>T (p.Pro94Leu) single nucleotide variant Inborn genetic diseases [RCV002798148] Chr15:78077372 [GRCh38]
Chr15:78369714 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.2033G>A (p.Arg678His) single nucleotide variant Inborn genetic diseases [RCV002757307] Chr15:78013060 [GRCh38]
Chr15:78305402 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.22G>T (p.Ala8Ser) single nucleotide variant Inborn genetic diseases [RCV002925603] Chr15:78077631 [GRCh38]
Chr15:78369973 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.1405G>A (p.Val469Met) single nucleotide variant Inborn genetic diseases [RCV003004588] Chr15:78024221 [GRCh38]
Chr15:78316563 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.82G>C (p.Ala28Pro) single nucleotide variant Inborn genetic diseases [RCV002891320] Chr15:78077571 [GRCh38]
Chr15:78369913 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.385T>C (p.Tyr129His) single nucleotide variant Inborn genetic diseases [RCV002702120] Chr15:78054163 [GRCh38]
Chr15:78346505 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.1685G>T (p.Arg562Leu) single nucleotide variant Inborn genetic diseases [RCV002930176] Chr15:78016636 [GRCh38]
Chr15:78308978 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.368A>G (p.Asn123Ser) single nucleotide variant Inborn genetic diseases [RCV002788434] Chr15:78054180 [GRCh38]
Chr15:78346522 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.1742C>T (p.Pro581Leu) single nucleotide variant Inborn genetic diseases [RCV002850667] Chr15:78016579 [GRCh38]
Chr15:78308921 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.305C>G (p.Thr102Arg) single nucleotide variant Inborn genetic diseases [RCV002787886] Chr15:78077348 [GRCh38]
Chr15:78369690 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.1233G>C (p.Gln411His) single nucleotide variant Inborn genetic diseases [RCV002872952] Chr15:78024393 [GRCh38]
Chr15:78316735 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.361G>A (p.Ala121Thr) single nucleotide variant Inborn genetic diseases [RCV003004275] Chr15:78054187 [GRCh38]
Chr15:78346529 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.1996G>A (p.Glu666Lys) single nucleotide variant Inborn genetic diseases [RCV002709654] Chr15:78013097 [GRCh38]
Chr15:78305439 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.221A>G (p.Gln74Arg) single nucleotide variant Inborn genetic diseases [RCV003006542] Chr15:78077432 [GRCh38]
Chr15:78369774 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.2354G>A (p.Arg785Gln) single nucleotide variant Inborn genetic diseases [RCV002808744] Chr15:78009031 [GRCh38]
Chr15:78301373 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.509A>G (p.Asn170Ser) single nucleotide variant Inborn genetic diseases [RCV002808377] Chr15:78054039 [GRCh38]
Chr15:78346381 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.278G>T (p.Gly93Val) single nucleotide variant Inborn genetic diseases [RCV002898421] Chr15:78077375 [GRCh38]
Chr15:78369717 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.1085A>G (p.Lys362Arg) single nucleotide variant Inborn genetic diseases [RCV002670405] Chr15:78025260 [GRCh38]
Chr15:78317602 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.475G>A (p.Gly159Arg) single nucleotide variant Inborn genetic diseases [RCV002920730] Chr15:78054073 [GRCh38]
Chr15:78346415 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.971G>T (p.Gly324Val) single nucleotide variant Inborn genetic diseases [RCV002959476] Chr15:78025374 [GRCh38]
Chr15:78317716 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.299C>T (p.Pro100Leu) single nucleotide variant Inborn genetic diseases [RCV002680608] Chr15:78077354 [GRCh38]
Chr15:78369696 [GRCh37]
Chr15:15q25.1		 likely benign
NM_144572.2(TBC1D2B):c.674A>G (p.Asn225Ser) single nucleotide variant Inborn genetic diseases [RCV002652797] Chr15:78044909 [GRCh38]
Chr15:78337251 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.2046G>T (p.Lys682Asn) single nucleotide variant Inborn genetic diseases [RCV002655170] Chr15:78013047 [GRCh38]
Chr15:78305389 [GRCh37]
Chr15:15q25.1		 uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
NM_144572.2(TBC1D2B):c.1290G>C (p.Lys430Asn) single nucleotide variant Inborn genetic diseases [RCV003203345] Chr15:78024336 [GRCh38]
Chr15:78316678 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.2761C>A (p.Arg921Ser) single nucleotide variant Inborn genetic diseases [RCV003188717] Chr15:77998291 [GRCh38]
Chr15:78290633 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_144572.2(TBC1D2B):c.2752C>T (p.Arg918Trp) single nucleotide variant Neurodevelopmental disorder with seizures and gingival overgrowth [RCV003140884] Chr15:77998300 [GRCh38]
Chr15:78290642 [GRCh37]
Chr15:15q24.3		 uncertain significance
NM_144572.2(TBC1D2B):c.811G>A (p.Glu271Lys) single nucleotide variant Inborn genetic diseases [RCV003212219] Chr15:78030043 [GRCh38]
Chr15:78322385 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.1096C>G (p.Arg366Gly) single nucleotide variant Inborn genetic diseases [RCV003217348] Chr15:78024530 [GRCh38]
Chr15:78316872 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.2276T>C (p.Val759Ala) single nucleotide variant Inborn genetic diseases [RCV003264572] Chr15:78009109 [GRCh38]
Chr15:78301451 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.89C>A (p.Pro30Gln) single nucleotide variant Inborn genetic diseases [RCV003261870] Chr15:78077564 [GRCh38]
Chr15:78369906 [GRCh37]
Chr15:15q25.1		 uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3		 pathogenic
NM_144572.2(TBC1D2B):c.2473A>C (p.Thr825Pro) single nucleotide variant Inborn genetic diseases [RCV003357867] Chr15:78003406 [GRCh38]
Chr15:78295748 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.1654C>T (p.Pro552Ser) single nucleotide variant Inborn genetic diseases [RCV003376189] Chr15:78016667 [GRCh38]
Chr15:78309009 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.991G>A (p.Val331Ile) single nucleotide variant not provided [RCV003400966] Chr15:78025354 [GRCh38]
Chr15:78317696 [GRCh37]
Chr15:15q25.1		 likely benign
NM_144572.2(TBC1D2B):c.2642C>T (p.Ser881Leu) single nucleotide variant not provided [RCV003411192] Chr15:78001673 [GRCh38]
Chr15:78294015 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.2052G>A (p.Lys684=) single nucleotide variant not provided [RCV003400963] Chr15:78013041 [GRCh38]
Chr15:78305383 [GRCh37]
Chr15:15q25.1		 likely benign
NM_144572.2(TBC1D2B):c.2016G>A (p.Trp672Ter) single nucleotide variant TBC1D2B-related condition [RCV003391548] Chr15:78013077 [GRCh38]
Chr15:78305419 [GRCh37]
Chr15:15q25.1		 likely pathogenic
NM_144572.2(TBC1D2B):c.1890A>G (p.Glu630=) single nucleotide variant not provided [RCV003400964] Chr15:78013203 [GRCh38]
Chr15:78305545 [GRCh37]
Chr15:15q25.1		 likely benign
NM_144572.2(TBC1D2B):c.1471-9_1471-8del deletion not provided [RCV003400965] Chr15:78017965..78017966 [GRCh38]
Chr15:78310307..78310308 [GRCh37]
Chr15:15q25.1		 likely benign
NM_144572.2(TBC1D2B):c.1530C>G (p.Leu510=) single nucleotide variant not provided [RCV003411195] Chr15:78017898 [GRCh38]
Chr15:78310240 [GRCh37]
Chr15:15q25.1		 likely benign
NM_144572.2(TBC1D2B):c.1704G>A (p.Leu568=) single nucleotide variant not provided [RCV003411194] Chr15:78016617 [GRCh38]
Chr15:78308959 [GRCh37]
Chr15:15q25.1		 likely benign
NM_144572.2(TBC1D2B):c.2289C>T (p.Leu763=) single nucleotide variant not provided [RCV003411193] Chr15:78009096 [GRCh38]
Chr15:78301438 [GRCh37]
Chr15:15q25.1		 likely benign
NM_144572.2(TBC1D2B):c.23C>G (p.Ala8Gly) single nucleotide variant TBC1D2B-related condition [RCV003932094] Chr15:78077630 [GRCh38]
Chr15:78369972 [GRCh37]
Chr15:15q25.1		 benign
NM_144572.2(TBC1D2B):c.244T>C (p.Leu82=) single nucleotide variant not provided [RCV003886066] Chr15:78077409 [GRCh38]
Chr15:78369751 [GRCh37]
Chr15:15q25.1		 likely benign
NM_144572.2(TBC1D2B):c.2353C>T (p.Arg785Ter) single nucleotide variant TBC1D2B-related condition [RCV003976869] Chr15:78009032 [GRCh38]
Chr15:78301374 [GRCh37]
Chr15:15q25.1		 likely pathogenic
NM_144572.2(TBC1D2B):c.274C>T (p.Gln92Ter) single nucleotide variant Neurodevelopmental disorder with seizures and gingival overgrowth [RCV003885344] Chr15:78077379 [GRCh38]
Chr15:78369721 [GRCh37]
Chr15:15q25.1		 likely pathogenic
NM_144572.2(TBC1D2B):c.159C>G (p.Tyr53Ter) single nucleotide variant TBC1D2B-related condition [RCV003967368] Chr15:78077494 [GRCh38]
Chr15:78369836 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_144572.2(TBC1D2B):c.311C>T (p.Pro104Leu) single nucleotide variant Inborn genetic diseases [RCV003359674] Chr15:78077342 [GRCh38]
Chr15:78369684 [GRCh37]
Chr15:15q25.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5577
Count of miRNA genes:1243
Interacting mature miRNAs:1607
Transcripts:ENST00000300584, ENST00000409931, ENST00000418039, ENST00000435468, ENST00000459715, ENST00000465531, ENST00000472786, ENST00000482562, ENST00000486703, ENST00000491479, ENST00000492078, ENST00000497942
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.

Markers in Region
D15S973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,331,897 - 78,332,146UniSTSGRCh37
Build 361576,118,952 - 76,119,201RGDNCBI36
Celera1555,267,919 - 55,268,166RGD
Cytogenetic Map15q24.3-q25.1UniSTS
HuRef1555,089,476 - 55,089,723UniSTS
Marshfield Genetic Map1573.52UniSTS
Marshfield Genetic Map1573.52RGD
Genethon Genetic Map1572.9UniSTS
deCODE Assembly Map1581.82UniSTS
WI-11944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371579,048,717 - 79,048,818UniSTSGRCh37
GRCh371578,287,368 - 78,287,469UniSTSGRCh37
Build 361576,074,423 - 76,074,524RGDNCBI36
Celera1555,985,194 - 55,985,295UniSTS
Celera1555,223,390 - 55,223,491RGD
Cytogenetic Map15q24.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q24.3-q25.1UniSTS
HuRef1555,044,947 - 55,045,048UniSTS
HuRef1555,807,119 - 55,807,220UniSTS
GeneMap99-GB4 RH Map15272.46UniSTS
Whitehead-RH Map15292.0UniSTS
NCBI RH Map15513.2UniSTS
A005A05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371579,048,568 - 79,048,835UniSTSGRCh37
GRCh371578,287,351 - 78,287,618UniSTSGRCh37
Build 361576,074,406 - 76,074,673RGDNCBI36
Celera1555,223,373 - 55,223,640RGD
Celera1555,985,045 - 55,985,312UniSTS
Cytogenetic Map15q24.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q24.3-q25.1UniSTS
HuRef1555,806,970 - 55,807,237UniSTS
HuRef1555,044,930 - 55,045,197UniSTS
GeneMap99-GB4 RH Map15273.25UniSTS
G32209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,287,351 - 78,287,618UniSTSGRCh37
GRCh371579,048,568 - 79,048,835UniSTSGRCh37
Celera1555,985,045 - 55,985,312UniSTS
Celera1555,223,373 - 55,223,640UniSTS
Cytogenetic Map15q24.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q24.3-q25.1UniSTS
HuRef1555,044,930 - 55,045,197UniSTS
HuRef1555,806,970 - 55,807,237UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2340 1787 1583 489 1406 360 3474 978 1427 240 1349 1550 141 1204 2004 5
Low 99 1202 143 135 542 105 883 1219 2307 179 111 63 34 1 784 1 2
Below cutoff 2 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001387142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI432924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW135485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE387538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000300584   ⟹   ENSP00000300584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1577,994,985 - 78,077,711 (-)Ensembl
RefSeq Acc Id: ENST00000409931   ⟹   ENSP00000387165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1577,994,986 - 78,077,724 (-)Ensembl
RefSeq Acc Id: ENST00000418039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1577,994,987 - 77,999,381 (-)Ensembl
RefSeq Acc Id: ENST00000435468   ⟹   ENSP00000413666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,024,416 - 78,066,123 (-)Ensembl
RefSeq Acc Id: ENST00000459715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1577,998,519 - 78,001,663 (-)Ensembl
RefSeq Acc Id: ENST00000465531   ⟹   ENSP00000453114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1577,984,036 - 78,001,684 (-)Ensembl
RefSeq Acc Id: ENST00000472786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,002,482 - 78,017,286 (-)Ensembl
RefSeq Acc Id: ENST00000482562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,044,997 - 78,054,001 (-)Ensembl
RefSeq Acc Id: ENST00000486703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,024,401 - 78,025,628 (-)Ensembl
RefSeq Acc Id: ENST00000491479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1577,998,116 - 78,001,954 (-)Ensembl
RefSeq Acc Id: ENST00000492078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1577,998,244 - 78,001,666 (-)Ensembl
RefSeq Acc Id: ENST00000497942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,001,704 - 78,003,579 (-)Ensembl
RefSeq Acc Id: NM_001387142   ⟹   NP_001374071
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,077,711 (-)NCBI
T2T-CHM13v2.01575,857,528 - 75,940,258 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387143   ⟹   NP_001374072
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,077,711 (-)NCBI
T2T-CHM13v2.01575,857,528 - 75,940,258 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387144   ⟹   NP_001374073
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,077,711 (-)NCBI
T2T-CHM13v2.01575,857,528 - 75,940,258 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387145   ⟹   NP_001374074
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,066,181 (-)NCBI
T2T-CHM13v2.01575,857,528 - 75,928,746 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387146   ⟹   NP_001374075
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,066,181 (-)NCBI
T2T-CHM13v2.01575,857,528 - 75,928,746 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387147   ⟹   NP_001374076
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,066,181 (-)NCBI
T2T-CHM13v2.01575,857,528 - 75,928,746 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387148   ⟹   NP_001374077
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,066,181 (-)NCBI
T2T-CHM13v2.01575,857,528 - 75,928,746 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387149   ⟹   NP_001374078
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,066,181 (-)NCBI
T2T-CHM13v2.01575,857,528 - 75,928,746 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015079   ⟹   NP_055894
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,077,711 (-)NCBI
GRCh371578,287,327 - 78,369,994 (-)RGD
Build 361576,074,383 - 76,156,912 (-)NCBI Archive
Celera1555,223,349 - 55,306,006 (-)RGD
HuRef1555,044,906 - 55,127,542 (-)RGD
CHM1_11578,405,273 - 78,487,934 (-)NCBI
T2T-CHM13v2.01575,857,528 - 75,940,258 (-)NCBI
Sequence:
RefSeq Acc Id: NM_144572   ⟹   NP_653173
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,077,711 (-)NCBI
GRCh371578,287,327 - 78,369,994 (-)RGD
Celera1555,223,349 - 55,306,006 (-)RGD
HuRef1555,044,906 - 55,127,542 (-)RGD
CHM1_11578,405,273 - 78,487,934 (-)NCBI
T2T-CHM13v2.01575,857,528 - 75,940,258 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521387   ⟹   XP_011519689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,077,711 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432267   ⟹   XP_047288223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,998,362 - 78,077,711 (-)NCBI
RefSeq Acc Id: XM_047432268   ⟹   XP_047288224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,003,305 - 78,077,711 (-)NCBI
RefSeq Acc Id: XM_047432269   ⟹   XP_047288225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,077,711 (-)NCBI
RefSeq Acc Id: XM_047432270   ⟹   XP_047288226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,034,742 (-)NCBI
RefSeq Acc Id: XM_047432271   ⟹   XP_047288227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381577,994,985 - 78,034,596 (-)NCBI
RefSeq Acc Id: XM_054377552   ⟹   XP_054233527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01575,857,528 - 75,940,258 (-)NCBI
RefSeq Acc Id: XM_054377553   ⟹   XP_054233528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01575,860,906 - 75,940,258 (-)NCBI
RefSeq Acc Id: XM_054377554   ⟹   XP_054233529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01575,865,848 - 75,940,258 (-)NCBI
RefSeq Acc Id: XM_054377555   ⟹   XP_054233530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01575,857,528 - 75,940,258 (-)NCBI
RefSeq Acc Id: XM_054377556   ⟹   XP_054233531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01575,857,528 - 75,897,285 (-)NCBI
RefSeq Acc Id: XM_054377557   ⟹   XP_054233532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01575,857,528 - 75,897,139 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001374071 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374072 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374073 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374074 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374075 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374076 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374077 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374078 (Get FASTA)   NCBI Sequence Viewer  
  NP_055894 (Get FASTA)   NCBI Sequence Viewer  
  NP_653173 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519689 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288223 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288224 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288225 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288226 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288227 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233527 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233528 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233529 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233530 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233531 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233532 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH33712 (Get FASTA)   NCBI Sequence Viewer  
  AAI40767 (Get FASTA)   NCBI Sequence Viewer  
  AAI44483 (Get FASTA)   NCBI Sequence Viewer  
  AAI52466 (Get FASTA)   NCBI Sequence Viewer  
  BAA83007 (Get FASTA)   NCBI Sequence Viewer  
  BAA90990 (Get FASTA)   NCBI Sequence Viewer  
  CAH10708 (Get FASTA)   NCBI Sequence Viewer  
  EAW99188 (Get FASTA)   NCBI Sequence Viewer  
  EAW99189 (Get FASTA)   NCBI Sequence Viewer  
  EAW99190 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000300584
  ENSP00000300584.3
  ENSP00000387165
  ENSP00000387165.3
  ENSP00000413666.1
  ENSP00000453114.1
GenBank Protein Q9UPU7 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_055894   ⟸   NM_015079
- Peptide Label: isoform b
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_653173   ⟸   NM_144572
- Peptide Label: isoform a
- UniProtKB: Q8N1F9 (UniProtKB/Swiss-Prot),   A7MD42 (UniProtKB/Swiss-Prot),   Q9NXM0 (UniProtKB/Swiss-Prot),   Q9UPU7 (UniProtKB/Swiss-Prot),   B2RTQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519689   ⟸   XM_011521387
- Peptide Label: isoform X1
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000453114   ⟸   ENST00000465531
RefSeq Acc Id: ENSP00000300584   ⟸   ENST00000300584
RefSeq Acc Id: ENSP00000387165   ⟸   ENST00000409931
RefSeq Acc Id: ENSP00000413666   ⟸   ENST00000435468
RefSeq Acc Id: NP_001374072   ⟸   NM_001387143
- Peptide Label: isoform d
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001374071   ⟸   NM_001387142
- Peptide Label: isoform c
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001374073   ⟸   NM_001387144
- Peptide Label: isoform e
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001374078   ⟸   NM_001387149
- Peptide Label: isoform j
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001374075   ⟸   NM_001387146
- Peptide Label: isoform g
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001374074   ⟸   NM_001387145
- Peptide Label: isoform f
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001374077   ⟸   NM_001387148
- Peptide Label: isoform i
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001374076   ⟸   NM_001387147
- Peptide Label: isoform h
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288225   ⟸   XM_047432269
- Peptide Label: isoform X4
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288226   ⟸   XM_047432270
- Peptide Label: isoform X4
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288227   ⟸   XM_047432271
- Peptide Label: isoform X4
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288223   ⟸   XM_047432267
- Peptide Label: isoform X2
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288224   ⟸   XM_047432268
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054233530   ⟸   XM_054377555
- Peptide Label: isoform X4
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233527   ⟸   XM_054377552
- Peptide Label: isoform X1
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233531   ⟸   XM_054377556
- Peptide Label: isoform X4
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233532   ⟸   XM_054377557
- Peptide Label: isoform X4
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233528   ⟸   XM_054377553
- Peptide Label: isoform X2
- UniProtKB: B2RTQ2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233529   ⟸   XM_054377554
- Peptide Label: isoform X3
Protein Domains
PH   Rab-GAP TBC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UPU7-F1-model_v2 AlphaFold Q9UPU7 1-963 view protein structure

Promoters
RGD ID:6792631
Promoter ID:HG_KWN:22019
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OTTHUMT00000328372,   OTTHUMT00000328373,   OTTHUMT00000328374,   OTTHUMT00000342623
Position:
Human AssemblyChrPosition (strand)Source
Build 361576,080,641 - 76,081,141 (-)MPROMDB
RGD ID:6792632
Promoter ID:HG_KWN:22020
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000342622
Position:
Human AssemblyChrPosition (strand)Source
Build 361576,082,691 - 76,083,892 (-)MPROMDB
RGD ID:6792629
Promoter ID:HG_KWN:22025
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000328370
Position:
Human AssemblyChrPosition (strand)Source
Build 361576,145,051 - 76,145,707 (-)MPROMDB
RGD ID:6792643
Promoter ID:HG_KWN:22026
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409568,   ENST00000409931,   NM_144572
Position:
Human AssemblyChrPosition (strand)Source
Build 361576,156,671 - 76,157,171 (-)MPROMDB
RGD ID:7230215
Promoter ID:EPDNEW_H20853
Type:initiation region
Name:TBC1D2B_1
Description:TBC1 domain family member 2B
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
GRCh381578,077,711 - 78,077,771EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29183 AgrOrtholog
COSMIC TBC1D2B COSMIC
Ensembl Genes ENSG00000167202 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000300584 ENTREZGENE
  ENST00000300584.8 UniProtKB/Swiss-Prot
  ENST00000409931 ENTREZGENE
  ENST00000409931.7 UniProtKB/Swiss-Prot
  ENST00000435468.1 UniProtKB/TrEMBL
  ENST00000465531.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  putative rabgap domain of human tbc1 domain family member 14 like domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ypt/Rab-GAP domain of gyp1p, domain 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167202 GTEx
HGNC ID HGNC:29183 ENTREZGENE
Human Proteome Map TBC1D2B Human Proteome Map
InterPro PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab-GTPase-TBC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab-GTPase_TBC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23102 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23102 ENTREZGENE
OMIM 619152 OMIM
PANTHER RAB GTPASE-ACTIVATING PROTEIN 1-LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC1 DOMAIN FAMILY MEMBER 2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RabGAP-TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670832 PharmGKB
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC_RABGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47923 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A7MD42 ENTREZGENE
  B2RTQ2 ENTREZGENE, UniProtKB/TrEMBL
  B7ZMF1_HUMAN UniProtKB/TrEMBL
  B9A6J8_HUMAN UniProtKB/TrEMBL
  C9JW56_HUMAN UniProtKB/TrEMBL
  H0YL97_HUMAN UniProtKB/TrEMBL
  Q8N1F9 ENTREZGENE
  Q9NXM0 ENTREZGENE
  Q9UPU7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A7MD42 UniProtKB/Swiss-Prot
  Q8N1F9 UniProtKB/Swiss-Prot
  Q9NXM0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TBC1D2B  TBC1 domain family member 2B    TBC1 domain family, member 2B  Symbol and/or name change 5135510 APPROVED