TBC1D9 (TBC1 domain family member 9) - Rat Genome Database
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Gene: TBC1D9 (TBC1 domain family member 9) Homo sapiens
Analyze
Symbol: TBC1D9
Name: TBC1 domain family member 9
RGD ID: 1604383
HGNC Page HGNC
Description: Predicted to have GTPase activator activity and Rab GTPase binding activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3-isobutyl-1-methyl-7H-xanthine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: GRAMD9; KIAA0882; MDR1; TBC1 domain family member 9A; TBC1 domain family, member 9 (with GRAM domain)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4140,620,782 - 140,756,385 (-)EnsemblGRCh38hg38GRCh38
GRCh384140,620,782 - 140,756,385 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374141,541,936 - 141,677,471 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364141,761,386 - 141,896,921 (-)NCBINCBI36hg18NCBI36
Celera4138,871,921 - 139,007,760 (-)NCBI
Cytogenetic Map4q31.21NCBI
HuRef4137,272,361 - 137,407,474 (-)NCBIHuRef
CHM1_14141,519,260 - 141,654,776 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

References

Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:10048485   PMID:10737800   PMID:12477932   PMID:12970790   PMID:15146197   PMID:15302935   PMID:16355344   PMID:18228020   PMID:19077034   PMID:20379614  
PMID:21873635   PMID:22296392   PMID:22354992   PMID:25542144   PMID:25659891   PMID:26186194   PMID:26496610   PMID:27609421   PMID:28514442   PMID:29507755   PMID:32034138  


Genomics

Comparative Map Data
TBC1D9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4140,620,782 - 140,756,385 (-)EnsemblGRCh38hg38GRCh38
GRCh384140,620,782 - 140,756,385 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374141,541,936 - 141,677,471 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364141,761,386 - 141,896,921 (-)NCBINCBI36hg18NCBI36
Celera4138,871,921 - 139,007,760 (-)NCBI
Cytogenetic Map4q31.21NCBI
HuRef4137,272,361 - 137,407,474 (-)NCBIHuRef
CHM1_14141,519,260 - 141,654,776 (-)NCBICHM1_1
Tbc1d9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39883,891,981 - 83,999,569 (+)NCBIGRCm39mm39
GRCm38883,165,352 - 83,272,940 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl883,165,352 - 83,272,934 (+)EnsemblGRCm38mm10GRCm38
MGSCv37885,689,251 - 85,796,839 (+)NCBIGRCm37mm9NCBIm37
MGSCv36886,055,457 - 86,162,527 (+)NCBImm8
Celera887,444,516 - 87,547,903 (+)NCBICelera
Cytogenetic Map8C2NCBI
Tbc1d9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01924,328,381 - 24,429,908 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1924,329,023 - 24,429,909 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01935,298,430 - 35,408,204 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41926,571,531 - 26,672,475 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11926,577,642 - 26,677,302 (-)NCBI
Celera1924,378,762 - 24,479,282 (-)NCBICelera
Cytogenetic Map19q11NCBI
Tbc1d9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554712,360,696 - 2,470,565 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554712,360,062 - 2,469,940 (+)NCBIChiLan1.0ChiLan1.0
TBC1D9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14144,291,723 - 144,426,643 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4144,293,141 - 144,426,374 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04132,982,357 - 133,118,036 (-)NCBIMhudiblu_PPA_v0panPan3
Tbc1d9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365357,168,756 - 7,230,911 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBC1D9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl886,402,837 - 86,517,784 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1886,402,745 - 86,518,182 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2891,902,294 - 91,946,118 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TBC1D9
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1787,553,136 - 87,691,254 (-)NCBI
ChlSab1.1 Ensembl787,552,715 - 87,690,438 (-)Ensembl
Tbc1d9
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462485336,571 - 151,871 (-)NCBI

Position Markers
WI-20032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374141,541,960 - 141,542,242UniSTSGRCh37
Build 364141,761,410 - 141,761,692RGDNCBI36
Celera4138,871,945 - 138,872,227RGD
Cytogenetic Map4q31.21UniSTS
HuRef4137,272,385 - 137,272,667UniSTS
GeneMap99-GB4 RH Map4613.72UniSTS
Whitehead-RH Map4666.6UniSTS
NCBI RH Map41478.5UniSTS
SHGC-50201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374141,541,960 - 141,542,175UniSTSGRCh37
Build 364141,761,410 - 141,761,625RGDNCBI36
Celera4138,871,945 - 138,872,160RGD
Cytogenetic Map4q31.21UniSTS
HuRef4137,272,385 - 137,272,600UniSTS
TNG Radiation Hybrid Map485566.0UniSTS
RH92256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374141,637,109 - 141,637,190UniSTSGRCh37
Build 364141,856,559 - 141,856,640RGDNCBI36
Celera4138,967,395 - 138,967,476RGD
Cytogenetic Map4q31.21UniSTS
HuRef4137,367,215 - 137,367,296UniSTS
GeneMap99-GB4 RH Map4613.61UniSTS
RH122866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374141,612,457 - 141,612,800UniSTSGRCh37
Build 364141,831,907 - 141,832,250RGDNCBI36
Celera4138,942,747 - 138,943,090RGD
Cytogenetic Map4q31.21UniSTS
HuRef4137,342,566 - 137,342,909UniSTS
TNG Radiation Hybrid Map485620.0UniSTS
D4S2601E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374141,543,140 - 141,543,329UniSTSGRCh37
Build 364141,762,590 - 141,762,779RGDNCBI36
Celera4138,873,125 - 138,873,314RGD
Cytogenetic Map4q31.21UniSTS
HuRef4137,273,565 - 137,273,754UniSTS
SHGC-141857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374141,580,379 - 141,580,658UniSTSGRCh37
Build 364141,799,829 - 141,800,108RGDNCBI36
Celera4138,910,423 - 138,910,702RGD
Cytogenetic Map4q31.21UniSTS
HuRef4137,310,753 - 137,311,032UniSTS
TNG Radiation Hybrid Map485584.0UniSTS
D4S3312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374141,541,965 - 141,542,114UniSTSGRCh37
Build 364141,761,415 - 141,761,564RGDNCBI36
Celera4138,871,950 - 138,872,099RGD
Cytogenetic Map4q31.21UniSTS
HuRef4137,272,390 - 137,272,539UniSTS
D4S1246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374141,597,888 - 141,598,077UniSTSGRCh37
Build 364141,817,338 - 141,817,527RGDNCBI36
Celera4138,927,934 - 138,928,123RGD
Cytogenetic Map4q31.21UniSTS
HuRef4137,328,267 - 137,328,456UniSTS
TNG Radiation Hybrid Map485603.0UniSTS
G41967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374141,586,361 - 141,586,488UniSTSGRCh37
Build 364141,805,811 - 141,805,938RGDNCBI36
Celera4138,916,406 - 138,916,533RGD
Cytogenetic Map4q31.21UniSTS
HuRef4137,316,736 - 137,316,863UniSTS
TNG Radiation Hybrid Map485595.0UniSTS
D4S3334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374141,633,873 - 141,633,964UniSTSGRCh37
Build 364141,853,323 - 141,853,414RGDNCBI36
Celera4138,964,159 - 138,964,250RGD
Cytogenetic Map4q31.21UniSTS
HuRef4137,363,979 - 137,364,070UniSTS
Marshfield Genetic Map4143.31UniSTS
deCODE Assembly Map4137.58UniSTS
D4S2680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374141,624,614 - 141,624,867UniSTSGRCh37
Build 364141,844,064 - 141,844,317RGDNCBI36
Celera4138,954,904 - 138,955,157RGD
Cytogenetic Map4q31.21UniSTS
HuRef4137,354,724 - 137,354,977UniSTS
Whitehead-RH Map4666.6UniSTS
Whitehead-YAC Contig Map4 UniSTS
G19772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374141,541,983 - 141,542,256UniSTSGRCh37
Build 364141,761,433 - 141,761,706RGDNCBI36
Celera4138,871,968 - 138,872,241RGD
Cytogenetic Map4q31.21UniSTS
HuRef4137,272,408 - 137,272,681UniSTS
A001Y05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374141,541,983 - 141,542,256UniSTSGRCh37
Build 364141,761,433 - 141,761,706RGDNCBI36
Celera4138,871,968 - 138,872,241RGD
Cytogenetic Map4q31.21UniSTS
HuRef4137,272,408 - 137,272,681UniSTS
GeneMap99-GB4 RH Map4614.56UniSTS
NCBI RH Map41483.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:916
Count of miRNA genes:542
Interacting mature miRNAs:586
Transcripts:ENST00000442267, ENST00000502786, ENST00000514787
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1
Medium 771 884 847 257 631 142 1583 326 2244 322 953 1311 124 1194 773 3
Low 1626 2060 875 365 1167 322 2765 1858 1484 96 494 296 47 10 2009 1
Below cutoff 12 37 2 109 7 10 6 1 9 4 3 1 6

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000442267   ⟹   ENSP00000411197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4140,620,782 - 140,756,385 (-)Ensembl
RefSeq Acc Id: ENST00000502786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4140,659,417 - 140,661,963 (-)Ensembl
RefSeq Acc Id: ENST00000514787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4140,670,594 - 140,677,101 (-)Ensembl
RefSeq Acc Id: NM_015130   ⟹   NP_055945
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384140,620,782 - 140,756,385 (-)NCBI
GRCh374141,541,936 - 141,677,471 (-)RGD
Build 364141,761,386 - 141,896,921 (-)NCBI Archive
Celera4138,871,921 - 139,007,760 (-)RGD
HuRef4137,272,361 - 137,407,474 (-)RGD
CHM1_14141,519,260 - 141,654,776 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055945   ⟸   NM_015130
- UniProtKB: Q6ZT07 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000411197   ⟸   ENST00000442267
Protein Domains
EF-hand   GRAM   Rab-GAP TBC

Promoters
RGD ID:6868544
Promoter ID:EPDNEW_H7436
Type:initiation region
Name:TBC1D9_1
Description:TBC1 domain family member 9
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
GRCh384140,756,126 - 140,756,186EPDNEW
RGD ID:6802649
Promoter ID:HG_KWN:49183
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000262996,   NM_015130
Position:
Human AssemblyChrPosition (strand)Source
Build 364141,896,526 - 141,897,587 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1 copy number loss See cases [RCV000051056] Chr4:128119872..142431375 [GRCh38]
Chr4:129041027..143352528 [GRCh37]
Chr4:129260477..143571978 [NCBI36]
Chr4:4q28.2-31.21
pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21
pathogenic
GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1 copy number loss See cases [RCV000053323] Chr4:140605955..144317039 [GRCh38]
Chr4:141527109..145238191 [GRCh37]
Chr4:141746559..145457641 [NCBI36]
Chr4:4q31.21
pathogenic
NM_015130.2(TBC1D9):c.1615C>T (p.Pro539Ser) single nucleotide variant Malignant melanoma [RCV000066278] Chr4:140662081 [GRCh38]
Chr4:141583235 [GRCh37]
Chr4:141802685 [NCBI36]
Chr4:4q31.21
not provided
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.21(chr4:141663149-143163452)x1 copy number loss not provided [RCV000682460] Chr4:141663149..143163452 [GRCh37]
Chr4:4q31.21
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_015130.3(TBC1D9):c.1497G>A (p.Gly499=) single nucleotide variant not provided [RCV000894924] Chr4:140669008 [GRCh38]
Chr4:141590162 [GRCh37]
Chr4:4q31.21
likely benign
NM_015130.3(TBC1D9):c.589+8A>G single nucleotide variant not provided [RCV000894925] Chr4:140679607 [GRCh38]
Chr4:141600761 [GRCh37]
Chr4:4q31.21
likely benign
NM_015130.3(TBC1D9):c.1983C>T (p.Tyr661=) single nucleotide variant not provided [RCV000965679] Chr4:140657751 [GRCh38]
Chr4:141578905 [GRCh37]
Chr4:4q31.21
benign
NM_015130.3(TBC1D9):c.2975-3T>C single nucleotide variant not provided [RCV000946813] Chr4:140624222 [GRCh38]
Chr4:141545376 [GRCh37]
Chr4:4q31.21
benign
NM_015130.3(TBC1D9):c.3535C>T (p.His1179Tyr) single nucleotide variant Attention deficit hyperactivity disorder [RCV000851205] Chr4:140622461 [GRCh38]
Chr4:141543615 [GRCh37]
Chr4:4q31.21
uncertain significance
GRCh37/hg19 4q31.1-31.21(chr4:141176846-142078534)x3 copy number gain not provided [RCV000847175] Chr4:141176846..142078534 [GRCh37]
Chr4:4q31.1-31.21
uncertain significance
GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1 copy number loss not provided [RCV000848032] Chr4:140522019..146347867 [GRCh37]
Chr4:4q31.1-31.21
uncertain significance
GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1 copy number loss not provided [RCV001005600] Chr4:139531815..146095109 [GRCh37]
Chr4:4q31.1-31.21
pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1 copy number loss not provided [RCV000847693] Chr4:134054911..142601496 [GRCh37]
Chr4:4q28.3-31.21
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21710 AgrOrtholog
COSMIC TBC1D9 COSMIC
Ensembl Genes ENSG00000109436 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000411197 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000442267 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot
GTEx ENSG00000109436 GTEx
HGNC ID HGNC:21710 ENTREZGENE
Human Proteome Map TBC1D9 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot
  EF_hand_dom UniProtKB/Swiss-Prot
  GRAM UniProtKB/Swiss-Prot
  PH-like_dom_sf UniProtKB/Swiss-Prot
  Rab-GTPase-TBC_dom UniProtKB/Swiss-Prot
  Rab-GTPase_TBC_sf UniProtKB/Swiss-Prot
  TCB1D9/TCB1D9B_PH-GRAM1 UniProtKB/Swiss-Prot
  TCB1D9/TCB1D9B_PH-GRAM2 UniProtKB/Swiss-Prot
KEGG Report hsa:23158 UniProtKB/Swiss-Prot
NCBI Gene 23158 ENTREZGENE
OMIM 618035 OMIM
Pfam GRAM UniProtKB/Swiss-Prot
  RabGAP-TBC UniProtKB/Swiss-Prot
PharmGKB PA128394607 PharmGKB
PROSITE EF_HAND_2 UniProtKB/Swiss-Prot
  TBC_RABGAP UniProtKB/Swiss-Prot
SMART GRAM UniProtKB/Swiss-Prot
  TBC UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot
  SSF47923 UniProtKB/Swiss-Prot
UniGene Hs.480819 ENTREZGENE
  Hs.595450 ENTREZGENE
UniProt Q6ZT07 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6H8U8 UniProtKB/Swiss-Prot
  D3DNZ1 UniProtKB/Swiss-Prot
  O94958 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TBC1D9  TBC1 domain family member 9    TBC1 domain family, member 9 (with GRAM domain)  Symbol and/or name change 5135510 APPROVED