TBC1D30 (TBC1 domain family member 30) - Rat Genome Database

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Gene: TBC1D30 (TBC1 domain family member 30) Homo sapiens
Analyze
Symbol: TBC1D30
Name: TBC1 domain family member 30
RGD ID: 2291766
HGNC Page HGNC:29164
Description: Enables GTPase activator activity and small GTPase binding activity. Involved in negative regulation of cilium assembly and positive regulation of GTPase activity. Located in ciliary basal body; cytosol; and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AC078815.1; KIAA0984; novel protein; TBC1 domain family, member 30
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
GRCh381264,759,484 - 64,881,033 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1264,759,484 - 64,881,033 (+)EnsemblGRCh38hg38GRCh38
GRCh371265,153,264 - 65,274,813 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361263,460,856 - 63,561,079 (+)NCBINCBI36Build 36hg18NCBI36
Celera1264,839,404 - 64,937,879 (+)NCBICelera
Cytogenetic Map12q14.3NCBI
HuRef1262,269,165 - 62,325,612 (+)NCBIHuRef
CHM1_11265,185,470 - 65,241,929 (+)NCBICHM1_1
T2T-CHM13v2.01264,738,311 - 64,860,047 (+)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

Molecular Function

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:8889548   PMID:10231032   PMID:12618308   PMID:14702039   PMID:17646400   PMID:19077034   PMID:20125193   PMID:21873635   PMID:26553929   PMID:28514442   PMID:29117863   PMID:29507755  
PMID:29509190   PMID:29676528   PMID:31527615   PMID:32296183   PMID:32393512   PMID:33961781   PMID:34369648   PMID:39358380  


Genomics

Comparative Map Data
TBC1D30
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381264,759,484 - 64,881,033 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1264,759,484 - 64,881,033 (+)EnsemblGRCh38hg38GRCh38
GRCh371265,153,264 - 65,274,813 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361263,460,856 - 63,561,079 (+)NCBINCBI36Build 36hg18NCBI36
Celera1264,839,404 - 64,937,879 (+)NCBICelera
Cytogenetic Map12q14.3NCBI
HuRef1262,269,165 - 62,325,612 (+)NCBIHuRef
CHM1_11265,185,470 - 65,241,929 (+)NCBICHM1_1
T2T-CHM13v2.01264,738,311 - 64,860,047 (+)NCBIT2T-CHM13v2.0
Tbc1d30
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910121,099,724 - 121,187,549 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10121,099,725 - 121,187,183 (-)EnsemblGRCm39 Ensembl
GRCm3810121,263,819 - 121,351,644 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10121,263,820 - 121,351,278 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710120,700,875 - 120,748,245 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610120,666,479 - 120,718,932 (-)NCBIMGSCv36mm8
Celera10123,627,218 - 123,683,449 (-)NCBICelera
Cytogenetic Map10D2NCBI
Tbc1d30
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8758,665,054 - 58,754,427 (-)NCBIGRCr8
mRatBN7.2756,779,570 - 56,869,092 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl756,782,165 - 56,870,515 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0763,361,443 - 63,409,760 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl763,361,696 - 63,407,241 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0763,585,333 - 63,631,367 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4760,564,501 - 60,611,576 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1760,585,483 - 60,653,319 (-)NCBI
Celera753,527,915 - 53,576,165 (-)NCBICelera
Cytogenetic Map7q22NCBI
Tbc1d30
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545811,530,920 - 11,617,765 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545811,531,066 - 11,617,765 (+)NCBIChiLan1.0ChiLan1.0
TBC1D30
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21029,490,225 - 29,609,529 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11229,486,991 - 29,606,300 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01224,042,551 - 24,164,052 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11224,546,158 - 24,646,299 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1224,551,186 - 24,645,916 (-)Ensemblpanpan1.1panPan2
TBC1D30
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1107,435,353 - 7,514,411 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl107,430,381 - 7,512,705 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha107,370,949 - 7,450,012 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0107,546,022 - 7,625,360 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl107,539,959 - 7,625,359 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1107,411,038 - 7,490,082 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0107,663,625 - 7,742,741 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0107,794,211 - 7,873,289 (+)NCBIUU_Cfam_GSD_1.0
Tbc1d30
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494550,992,374 - 51,079,423 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365453,074,561 - 3,117,918 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365453,075,135 - 3,117,750 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBC1D30
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl529,248,091 - 29,298,407 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1529,206,134 - 29,298,401 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2532,235,370 - 32,291,607 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TBC1D30
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11160,456,397 - 60,564,293 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1160,516,158 - 60,564,477 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037185,208,104 - 185,319,887 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tbc1d30
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248023,531,961 - 3,579,864 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248023,533,703 - 3,623,349 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TBC1D30
48 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q14.2-15(chr12:64368308-69123358)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052815]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052815]|See cases [RCV000052815] Chr12:64368308..69123358 [GRCh38]
Chr12:64762088..69517138 [GRCh37]
Chr12:63048355..67803405 [NCBI36]
Chr12:12q14.2-15		 pathogenic
NM_015279.1(TBC1D30):c.450G>A (p.Glu150=) single nucleotide variant Malignant melanoma [RCV000070159] Chr12:64832160 [GRCh38]
Chr12:65225940 [GRCh37]
Chr12:63512207 [NCBI36]
Chr12:12q14.3		 not provided
NM_015279.1(TBC1D30):c.980G>A (p.Gly327Glu) single nucleotide variant Malignant melanoma [RCV000070160] Chr12:64843427 [GRCh38]
Chr12:65237207 [GRCh37]
Chr12:63523474 [NCBI36]
Chr12:12q14.3		 not provided
GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1 copy number loss See cases [RCV000138985] Chr12:60907151..66568077 [GRCh38]
Chr12:61300932..66961857 [GRCh37]
Chr12:59587199..65248124 [NCBI36]
Chr12:12q14.1-14.3		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12q14.1-15(chr12:59495114-70574966)x1 copy number loss See cases [RCV000447164] Chr12:59495114..70574966 [GRCh37]
Chr12:12q14.1-15		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_015279.2(TBC1D30):c.595-1G>T single nucleotide variant not provided [RCV000678297] Chr12:64836489 [GRCh38]
Chr12:65230269 [GRCh37]
Chr12:12q14.3		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NC_000012.12:g.64759555AGAAAAGGGCGGAGAACCGG[2] microsatellite not provided [RCV001708689] Chr12:64759541..64759560 [GRCh38]
Chr12:65153321..65153340 [GRCh37]
Chr12:12q14.3		 benign
GRCh37/hg19 12q14.3(chr12:65101139-65326483)x3 copy number gain not provided [RCV000848981] Chr12:65101139..65326483 [GRCh37]
Chr12:12q14.3		 uncertain significance
GRCh37/hg19 12q14.2-14.3(chr12:65029704-65589195)x3 copy number gain not provided [RCV001006509] Chr12:65029704..65589195 [GRCh37]
Chr12:12q14.2-14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1152-7T>A single nucleotide variant not provided [RCV000947472] Chr12:64866757 [GRCh38]
Chr12:65260537 [GRCh37]
Chr12:12q14.3		 benign
NM_015279.2(TBC1D30):c.1765G>A (p.Val589Ile) single nucleotide variant not provided [RCV001617758] Chr12:64875267 [GRCh38]
Chr12:65269047 [GRCh37]
Chr12:12q14.3		 benign
GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1 copy number loss not provided [RCV001537907] Chr12:65251705..75263379 [GRCh37]
Chr12:12q14.3-21.1		 pathogenic
NC_000012.12:g.64759493T>C single nucleotide variant not provided [RCV001681091] Chr12:64759493 [GRCh38]
Chr12:65153273 [GRCh37]
Chr12:12q14.3		 benign
NC_000012.11:g.(?_64173741)_(65857102_?)del deletion Mucopolysaccharidosis, MPS-III-D [RCV001920699] Chr12:64173741..65857102 [GRCh37]
Chr12:12q14.2-14.3		 pathogenic
NC_000012.11:g.(?_64849651)_(65857102_?)del deletion not provided [RCV003116735] Chr12:64849651..65857102 [GRCh37]
Chr12:12q14.2-14.3		 pathogenic
NM_015279.2(TBC1D30):c.1213G>A (p.Val405Ile) single nucleotide variant not specified [RCV004315307] Chr12:64866825 [GRCh38]
Chr12:65260605 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.799A>G (p.Met267Val) single nucleotide variant not specified [RCV004213050] Chr12:64838718 [GRCh38]
Chr12:65232498 [GRCh37]
Chr12:12q14.3		 uncertain significance
GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1 copy number loss not provided [RCV002511748] Chr12:64609458..70352103 [GRCh37]
Chr12:12q14.2-15		 pathogenic
NM_015279.2(TBC1D30):c.632G>A (p.Ser211Asn) single nucleotide variant not specified [RCV004197327] Chr12:64836527 [GRCh38]
Chr12:65230307 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1436G>A (p.Arg479Gln) single nucleotide variant not specified [RCV004089063] Chr12:64870746 [GRCh38]
Chr12:65264526 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.785C>T (p.Thr262Ile) single nucleotide variant not specified [RCV004128787] Chr12:64838704 [GRCh38]
Chr12:65232484 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.70G>A (p.Val24Met) single nucleotide variant not specified [RCV004127771] Chr12:64824949 [GRCh38]
Chr12:65218729 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1268A>C (p.Gln423Pro) single nucleotide variant not specified [RCV004242757] Chr12:64866880 [GRCh38]
Chr12:65260660 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.628G>A (p.Glu210Lys) single nucleotide variant not specified [RCV004125867] Chr12:64836523 [GRCh38]
Chr12:65230303 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.431G>A (p.Ser144Asn) single nucleotide variant not specified [RCV004175087] Chr12:64832141 [GRCh38]
Chr12:65225921 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.694A>G (p.Arg232Gly) single nucleotide variant not specified [RCV004172185] Chr12:64836589 [GRCh38]
Chr12:65230369 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1843A>G (p.Thr615Ala) single nucleotide variant not specified [RCV004153954] Chr12:64875345 [GRCh38]
Chr12:65269125 [GRCh37]
Chr12:12q14.3		 likely benign
NM_015279.2(TBC1D30):c.2093C>T (p.Ala698Val) single nucleotide variant not specified [RCV004153550] Chr12:64875595 [GRCh38]
Chr12:65269375 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1534G>A (p.Val512Ile) single nucleotide variant not specified [RCV004133869] Chr12:64875036 [GRCh38]
Chr12:65268816 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.344T>C (p.Met115Thr) single nucleotide variant not specified [RCV004084637] Chr12:64830438 [GRCh38]
Chr12:65224218 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.569A>G (p.Glu190Gly) single nucleotide variant not specified [RCV004185288] Chr12:64832279 [GRCh38]
Chr12:65226059 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1150G>C (p.Gly384Arg) single nucleotide variant not specified [RCV004178652] Chr12:64864779 [GRCh38]
Chr12:65258559 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.2057C>T (p.Pro686Leu) single nucleotide variant not specified [RCV004181259] Chr12:64875559 [GRCh38]
Chr12:65269339 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1784A>T (p.Gln595Leu) single nucleotide variant not specified [RCV004208075] Chr12:64875286 [GRCh38]
Chr12:65269066 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1726A>C (p.Met576Leu) single nucleotide variant not specified [RCV004081613] Chr12:64875228 [GRCh38]
Chr12:65269008 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1375C>T (p.His459Tyr) single nucleotide variant not specified [RCV004189017] Chr12:64870685 [GRCh38]
Chr12:65264465 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.2054C>T (p.Pro685Leu) single nucleotide variant not specified [RCV004182489] Chr12:64875556 [GRCh38]
Chr12:65269336 [GRCh37]
Chr12:12q14.3		 likely benign
NM_015279.2(TBC1D30):c.1690C>T (p.Pro564Ser) single nucleotide variant not specified [RCV004269718] Chr12:64875192 [GRCh38]
Chr12:65268972 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1651C>T (p.Pro551Ser) single nucleotide variant not specified [RCV004262950] Chr12:64875153 [GRCh38]
Chr12:65268933 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.750C>G (p.Asn250Lys) single nucleotide variant not specified [RCV004294203] Chr12:64836645 [GRCh38]
Chr12:65230425 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1709G>A (p.Arg570Gln) single nucleotide variant not specified [RCV004255050] Chr12:64875211 [GRCh38]
Chr12:65268991 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.2149C>T (p.Pro717Ser) single nucleotide variant not specified [RCV004258632] Chr12:64875651 [GRCh38]
Chr12:65269431 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.2029C>T (p.Pro677Ser) single nucleotide variant not specified [RCV004342568] Chr12:64875531 [GRCh38]
Chr12:65269311 [GRCh37]
Chr12:12q14.3		 uncertain significance
GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1 copy number loss not provided [RCV003483154] Chr12:61755618..70035424 [GRCh37]
Chr12:12q14.1-15		 pathogenic
NM_015279.2(TBC1D30):c.498C>T (p.Ala166=) single nucleotide variant not provided [RCV003398177] Chr12:64832208 [GRCh38]
Chr12:65225988 [GRCh37]
Chr12:12q14.3		 likely benign
NM_015279.2(TBC1D30):c.1100C>A (p.Thr367Asn) single nucleotide variant not specified [RCV004473952] Chr12:64864729 [GRCh38]
Chr12:65258509 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1367G>A (p.Ser456Asn) single nucleotide variant not specified [RCV004473953] Chr12:64870677 [GRCh38]
Chr12:65264457 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1888A>G (p.Arg630Gly) single nucleotide variant not specified [RCV004473954] Chr12:64875390 [GRCh38]
Chr12:65269170 [GRCh37]
Chr12:12q14.3		 likely benign
NM_015279.2(TBC1D30):c.2156G>A (p.Arg719Gln) single nucleotide variant not specified [RCV004473956] Chr12:64875658 [GRCh38]
Chr12:65269438 [GRCh37]
Chr12:12q14.3		 uncertain significance
GRCh38/hg38 12q14.2-15(chr12:63871239-67314524) copy number loss Silver-Russell syndrome 5 [RCV004547403] Chr12:63871239..67314524 [GRCh38]
Chr12:12q14.2-15		 uncertain significance
NM_015279.2(TBC1D30):c.2033G>A (p.Cys678Tyr) single nucleotide variant not specified [RCV004473955] Chr12:64875535 [GRCh38]
Chr12:65269315 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.998T>C (p.Met333Thr) single nucleotide variant not specified [RCV004473958] Chr12:64843445 [GRCh38]
Chr12:65237225 [GRCh37]
Chr12:12q14.3		 uncertain significance
NC_000012.11:g.(?_64173741)_(68052493_?)del deletion Mucopolysaccharidosis, MPS-III-D [RCV004578369] Chr12:64173741..68052493 [GRCh37]
Chr12:12q14.2-15		 pathogenic
NM_015279.2(TBC1D30):c.2164G>C (p.Ala722Pro) single nucleotide variant not specified [RCV004682008] Chr12:64875666 [GRCh38]
Chr12:65269446 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.644A>G (p.Asn215Ser) single nucleotide variant not specified [RCV004682009] Chr12:64836539 [GRCh38]
Chr12:65230319 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.731C>T (p.Thr244Ile) single nucleotide variant not specified [RCV004673441] Chr12:64836626 [GRCh38]
Chr12:65230406 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.2167A>G (p.Thr723Ala) single nucleotide variant not specified [RCV004673440] Chr12:64875669 [GRCh38]
Chr12:65269449 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.1126A>G (p.Thr376Ala) single nucleotide variant not specified [RCV004673442] Chr12:64864755 [GRCh38]
Chr12:65258535 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_015279.2(TBC1D30):c.583G>A (p.Asp195Asn) single nucleotide variant not specified [RCV004673443] Chr12:64832293 [GRCh38]
Chr12:65226073 [GRCh37]
Chr12:12q14.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3935
Count of miRNA genes:1242
Interacting mature miRNAs:1555
Transcripts:ENST00000229088, ENST00000456757, ENST00000539120, ENST00000539867, ENST00000542120, ENST00000544190, ENST00000544457
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407176646GWAS825622_Hmemory performance QTL GWAS825622 (human)0.000004memory performance126484310964843110Human
407146402GWAS795378_Hneuropsychological test QTL GWAS795378 (human)0.000002neuropsychological test126485833864858339Human
597109916GWAS1205990_Hinsulin measurement QTL GWAS1205990 (human)1e-16insulin measurementpancreatic islet insulin release measurement (CMO:0001216)126483044064830441Human
597056155GWAS1152229_Hhair colour measurement QTL GWAS1152229 (human)2e-13coat/hair pigmentation trait (VT:0010463)coat/hair color measurement (CMO:0001808)126477100364771004Human

Markers in Region
D12S1414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,272,141 - 65,272,392UniSTSGRCh37
Build 361263,558,408 - 63,558,659RGDNCBI36
Celera1264,937,609 - 64,937,860RGD
Cytogenetic Map12q14.3UniSTS
HuRef1262,322,951 - 62,323,202UniSTS
GeneMap99-GB4 RH Map12278.37UniSTS
Whitehead-RH Map12378.7UniSTS
Whitehead-YAC Contig Map12 UniSTS
WI-15930  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,271,952 - 65,272,084UniSTSGRCh37
Build 361263,558,219 - 63,558,351RGDNCBI36
Celera1264,937,420 - 64,937,552RGD
Cytogenetic Map12q14.3UniSTS
HuRef1262,322,762 - 62,322,894UniSTS
GeneMap99-GB4 RH Map12282.09UniSTS
Whitehead-RH Map12378.4UniSTS
G64397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,259,522 - 65,259,713UniSTSGRCh37
Build 361263,545,789 - 63,545,980RGDNCBI36
Celera1264,924,990 - 64,925,181RGD
HuRef1733,363,983 - 33,364,270UniSTS
HuRef1262,310,331 - 62,310,522UniSTS
G64500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,176,911 - 65,177,091UniSTSGRCh37
Build 361263,463,178 - 63,463,358RGDNCBI36
Celera1264,841,726 - 64,841,906RGD
Cytogenetic Map12q14.3UniSTS
HuRef1262,227,547 - 62,227,727UniSTS
G64736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,177,375 - 65,177,552UniSTSGRCh37
Build 361263,463,642 - 63,463,819RGDNCBI36
Celera1264,842,190 - 64,842,367RGD
Cytogenetic Map12q14.3UniSTS
HuRef1262,228,011 - 62,228,188UniSTS
D12S1544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,214,418 - 65,214,604UniSTSGRCh37
Build 361263,500,685 - 63,500,871RGDNCBI36
Celera1264,879,887 - 64,880,073RGD
Cytogenetic Map12q14.3UniSTS
HuRef1262,265,228 - 62,265,414UniSTS
D12S1189E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,272,258 - 65,272,361UniSTSGRCh37
Build 361263,558,525 - 63,558,628RGDNCBI36
Celera1264,937,726 - 64,937,829RGD
Cytogenetic Map12q14.3UniSTS
HuRef1262,323,068 - 62,323,171UniSTS
GeneMap99-GB4 RH Map12277.77UniSTS
D12S2056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,251,761 - 65,251,884UniSTSGRCh37
Build 361263,538,028 - 63,538,151RGDNCBI36
Celera1264,917,229 - 64,917,352RGD
Cytogenetic Map12q14.3UniSTS
HuRef1262,302,570 - 62,302,693UniSTS
RH44734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,270,531 - 65,270,783UniSTSGRCh37
Build 361263,556,798 - 63,557,050RGDNCBI36
Celera1264,935,999 - 64,936,251RGD
Cytogenetic Map12q14.3UniSTS
HuRef1262,321,341 - 62,321,593UniSTS
GeneMap99-GB4 RH Map12285.35UniSTS
D12S1211E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,274,289 - 65,274,513UniSTSGRCh37
Build 361263,560,556 - 63,560,780RGDNCBI36
Celera1264,939,757 - 64,939,981RGD
Cytogenetic Map12q14.3UniSTS
HuRef1262,325,099 - 62,325,323UniSTS
GeneMap99-GB4 RH Map12281.99UniSTS
D12S1539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,222,146 - 65,222,273UniSTSGRCh37
Build 361263,508,413 - 63,508,540RGDNCBI36
Celera1264,887,617 - 64,887,744RGD
Cytogenetic Map12q14.3UniSTS
HuRef1262,272,959 - 62,273,086UniSTS
A004Z30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,274,365 - 65,274,540UniSTSGRCh37
Build 361263,560,632 - 63,560,807RGDNCBI36
Celera1264,939,833 - 64,940,008RGD
Cytogenetic Map12q14.3UniSTS
HuRef1262,325,175 - 62,325,350UniSTS
GeneMap99-GB4 RH Map12277.77UniSTS
Whitehead-RH Map12378.6UniSTS
A007A06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,273,272 - 65,273,374UniSTSGRCh37
Build 361263,559,539 - 63,559,641RGDNCBI36
Celera1264,938,740 - 64,938,842RGD
Cytogenetic Map12q14.3UniSTS
HuRef1262,324,082 - 62,324,184UniSTS
GeneMap99-GB4 RH Map12289.54UniSTS
RH44361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,272,150 - 65,272,293UniSTSGRCh37
Build 361263,558,417 - 63,558,560RGDNCBI36
Celera1264,937,618 - 64,937,761RGD
Cytogenetic Map12q14.3UniSTS
HuRef1262,322,960 - 62,323,103UniSTS
GeneMap99-GB4 RH Map12277.77UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2247 4970 1724 2346 5 622 1942 464 2268 7281 6451 52 3734 849 1738 1612 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001330186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB449914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM310544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM678817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC377016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY146277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000434563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1264,759,521 - 64,779,318 (+)Ensembl
Ensembl Acc Id: ENST00000456757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1264,781,193 - 64,818,770 (+)Ensembl
Ensembl Acc Id: ENST00000539120   ⟹   ENSP00000442442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1264,824,670 - 64,836,511 (+)Ensembl
Ensembl Acc Id: ENST00000539867   ⟹   ENSP00000440207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1264,824,647 - 64,881,033 (+)Ensembl
Ensembl Acc Id: ENST00000542120   ⟹   ENSP00000440640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1264,780,516 - 64,881,032 (+)Ensembl
Ensembl Acc Id: ENST00000544457   ⟹   ENSP00000439897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1264,824,667 - 64,832,205 (+)Ensembl
Ensembl Acc Id: ENST00000674171   ⟹   ENSP00000501420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1264,786,011 - 64,881,032 (+)Ensembl
Ensembl Acc Id: ENST00000674237   ⟹   ENSP00000501371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1264,759,484 - 64,878,623 (+)Ensembl
RefSeq Acc Id: NM_001330186   ⟹   NP_001317115
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,824,647 - 64,881,033 (+)NCBI
T2T-CHM13v2.01264,803,666 - 64,860,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330187   ⟹   NP_001317116
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,759,484 - 64,881,033 (+)NCBI
T2T-CHM13v2.01264,738,311 - 64,860,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330188   ⟹   NP_001317117
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,780,755 - 64,881,033 (+)NCBI
T2T-CHM13v2.01264,759,584 - 64,860,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364838   ⟹   NP_001351767
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,824,647 - 64,881,033 (+)NCBI
T2T-CHM13v2.01264,803,666 - 64,860,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015279   ⟹   NP_056094
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,824,647 - 64,881,033 (+)NCBI
GRCh371265,218,352 - 65,274,802 (+)ENTREZGENE
HuRef1262,269,165 - 62,325,612 (+)ENTREZGENE
CHM1_11265,185,470 - 65,241,929 (+)NCBI
T2T-CHM13v2.01264,803,666 - 64,860,047 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538078   ⟹   XP_011536380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,824,647 - 64,881,033 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448903   ⟹   XP_024304671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,759,484 - 64,881,033 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448904   ⟹   XP_024304672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,759,484 - 64,881,033 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428595   ⟹   XP_047284551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,759,484 - 64,881,033 (+)NCBI
RefSeq Acc Id: XM_047428596   ⟹   XP_047284552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,759,484 - 64,881,033 (+)NCBI
RefSeq Acc Id: XM_047428597   ⟹   XP_047284553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,824,647 - 64,881,033 (+)NCBI
RefSeq Acc Id: XM_047428599   ⟹   XP_047284555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,759,484 - 64,881,033 (+)NCBI
RefSeq Acc Id: XM_047428600   ⟹   XP_047284556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,759,484 - 64,881,033 (+)NCBI
RefSeq Acc Id: XM_047428601   ⟹   XP_047284557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,824,647 - 64,881,033 (+)NCBI
RefSeq Acc Id: XM_054371560   ⟹   XP_054227535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01264,738,311 - 64,860,047 (+)NCBI
RefSeq Acc Id: XM_054371561   ⟹   XP_054227536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01264,738,311 - 64,860,047 (+)NCBI
RefSeq Acc Id: XM_054371562   ⟹   XP_054227537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01264,738,311 - 64,860,047 (+)NCBI
RefSeq Acc Id: XM_054371563   ⟹   XP_054227538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01264,803,666 - 64,860,047 (+)NCBI
RefSeq Acc Id: XM_054371564   ⟹   XP_054227539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01264,803,666 - 64,860,047 (+)NCBI
RefSeq Acc Id: XM_054371565   ⟹   XP_054227540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01264,738,311 - 64,860,047 (+)NCBI
RefSeq Acc Id: XM_054371566   ⟹   XP_054227541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01264,738,311 - 64,860,047 (+)NCBI
RefSeq Acc Id: XM_054371567   ⟹   XP_054227542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01264,738,311 - 64,860,047 (+)NCBI
RefSeq Acc Id: XM_054371568   ⟹   XP_054227543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01264,803,666 - 64,860,047 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001317115 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317116 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317117 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351767 (Get FASTA)   NCBI Sequence Viewer  
  NP_056094 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536380 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304671 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304672 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284551 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284552 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284553 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284555 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284556 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284557 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227535 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227536 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227537 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227538 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227539 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227540 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227541 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227542 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227543 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAA76828 (Get FASTA)   NCBI Sequence Viewer  
  BAG51513 (Get FASTA)   NCBI Sequence Viewer  
  BAG61461 (Get FASTA)   NCBI Sequence Viewer  
  BAH16657 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000439897.1
  ENSP00000440207
  ENSP00000440207.1
  ENSP00000440640
  ENSP00000440640.2
  ENSP00000442442.1
  ENSP00000501371
  ENSP00000501371.1
  ENSP00000501395.1
  ENSP00000501420.1
GenBank Protein Q9Y2I9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_056094   ⟸   NM_015279
- Peptide Label: isoform 1
- UniProtKB: Q9Y2I9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011536380   ⟸   XM_011538078
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001317116   ⟸   NM_001330187
- Peptide Label: isoform 3
- UniProtKB: F8VZ81 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304672   ⟸   XM_024448904
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024304671   ⟸   XM_024448903
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001317117   ⟸   NM_001330188
- Peptide Label: isoform 3
- UniProtKB: F8VZ81 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317115   ⟸   NM_001330186
- Peptide Label: isoform 2
- UniProtKB: Q9Y2I9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001351767   ⟸   NM_001364838
- Peptide Label: isoform 3
- UniProtKB: F8VZ81 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000501371   ⟸   ENST00000674237
Ensembl Acc Id: ENSP00000501420   ⟸   ENST00000674171
Ensembl Acc Id: ENSP00000440640   ⟸   ENST00000542120
Ensembl Acc Id: ENSP00000439897   ⟸   ENST00000544457
Ensembl Acc Id: ENSP00000442442   ⟸   ENST00000539120
Ensembl Acc Id: ENSP00000440207   ⟸   ENST00000539867
RefSeq Acc Id: XP_047284551   ⟸   XM_047428595
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047284552   ⟸   XM_047428596
- Peptide Label: isoform X2
- UniProtKB: Q9Y2I9 (UniProtKB/Swiss-Prot),   E7EMW4 (UniProtKB/Swiss-Prot),   B9A6M9 (UniProtKB/Swiss-Prot),   B3KP01 (UniProtKB/Swiss-Prot),   F5GYJ9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284555   ⟸   XM_047428599
- Peptide Label: isoform X6
- UniProtKB: F8VZ81 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047284556   ⟸   XM_047428600
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047284553   ⟸   XM_047428597
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047284557   ⟸   XM_047428601
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054227535   ⟸   XM_054371560
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227536   ⟸   XM_054371561
- Peptide Label: isoform X2
- UniProtKB: Q9Y2I9 (UniProtKB/Swiss-Prot),   E7EMW4 (UniProtKB/Swiss-Prot),   B9A6M9 (UniProtKB/Swiss-Prot),   B3KP01 (UniProtKB/Swiss-Prot),   F5GYJ9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227537   ⟸   XM_054371562
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054227540   ⟸   XM_054371565
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054227541   ⟸   XM_054371566
- Peptide Label: isoform X6
- UniProtKB: F8VZ81 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227542   ⟸   XM_054371567
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054227538   ⟸   XM_054371563
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227539   ⟸   XM_054371564
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054227543   ⟸   XM_054371568
- Peptide Label: isoform X7
Protein Domains
Rab-GAP TBC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2I9-F1-model_v2 AlphaFold Q9Y2I9 1-924 view protein structure

Promoters
RGD ID:6810442
Promoter ID:HG_ACW:17591
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:KIAA0984.BAPR07,   KIAA0984.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361263,460,496 - 63,460,996 (+)MPROMDB
RGD ID:6790159
Promoter ID:HG_KWN:16069
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC001SSI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361263,504,389 - 63,504,889 (+)MPROMDB
RGD ID:7224683
Promoter ID:EPDNEW_H18088
Type:initiation region
Name:TBC1D30_3
Description:TBC1 domain family member 30
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18089  EPDNEW_H18090  EPDNEW_H18091  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,759,496 - 64,759,556EPDNEW
RGD ID:7224687
Promoter ID:EPDNEW_H18089
Type:initiation region
Name:TBC1D30_2
Description:TBC1 domain family member 30
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18088  EPDNEW_H18090  EPDNEW_H18091  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,780,755 - 64,780,815EPDNEW
RGD ID:7224689
Promoter ID:EPDNEW_H18090
Type:initiation region
Name:TBC1D30_4
Description:TBC1 domain family member 30
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18088  EPDNEW_H18089  EPDNEW_H18091  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,781,071 - 64,781,131EPDNEW
RGD ID:7224691
Promoter ID:EPDNEW_H18091
Type:initiation region
Name:TBC1D30_1
Description:TBC1 domain family member 30
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18088  EPDNEW_H18089  EPDNEW_H18090  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381264,824,667 - 64,824,727EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29164 AgrOrtholog
COSMIC TBC1D30 COSMIC
Ensembl Genes ENSG00000111490 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000288591 UniProtKB/TrEMBL
Ensembl Transcript ENST00000539120.1 UniProtKB/TrEMBL
  ENST00000539867 ENTREZGENE
  ENST00000539867.6 UniProtKB/Swiss-Prot
  ENST00000542120 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000542120.6 UniProtKB/Swiss-Prot
  ENST00000544457.1 UniProtKB/TrEMBL
  ENST00000674171.1 UniProtKB/TrEMBL
  ENST00000674237 ENTREZGENE
  ENST00000674237.1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000674281.1 UniProtKB/TrEMBL
Gene3D-CATH 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 ENSG00000111490 GTEx
  ENSG00000288591 GTEx
HGNC ID HGNC:29164 ENTREZGENE
Human Proteome Map TBC1D30 Human Proteome Map
InterPro Rab-GTPase-TBC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab-GTPase_TBC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tbc1d30_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23329 UniProtKB/Swiss-Prot
NCBI Gene 23329 ENTREZGENE
OMIM 615077 OMIM
PANTHER TBC1 DOMAIN FAMILY MEMBER 30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSLOCON-ASSOCIATED PROTEIN TRAP , GAMMA SUBUNIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF4682 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RabGAP-TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162405327 PharmGKB
PROSITE TBC_RABGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47923 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6I8PRH3_HUMAN UniProtKB/TrEMBL
  B3KP01 ENTREZGENE
  B9A6M9 ENTREZGENE
  E7EMW4 ENTREZGENE
  F5GYJ9 ENTREZGENE
  F5H0E8_HUMAN UniProtKB/TrEMBL
  F5H7L7_HUMAN UniProtKB/TrEMBL
  F8VZ81 ENTREZGENE, UniProtKB/TrEMBL
  Q9Y2I9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KP01 UniProtKB/Swiss-Prot
  B9A6M9 UniProtKB/Swiss-Prot
  E7EMW4 UniProtKB/Swiss-Prot
  F5GYJ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-06-07 TBC1D30  TBC1 domain family member 30  AC078815.1  novel protein  Data merged from RGD:25700527 737654 PROVISIONAL
2015-11-24 TBC1D30  TBC1 domain family member 30    TBC1 domain family, member 30  Symbol and/or name change 5135510 APPROVED