Gene Gene information from NCBI Gene database.
Entrez ID 9321
Gene name Thyroid hormone receptor interactor 11
Gene symbol TRIP11
Synonyms (NCBI Gene)
ACG1ACEV14GMAP-210GMAP210ODCDODCD1TRIP-11TRIP230
Chromosome 14
Chromosome location 14q32.12
Summary This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds th
SNPs SNP information provided by dbSNP.
35
SNP ID Visualize variation Clinical significance Consequence
rs34761938 A>G,T Pathogenic, uncertain-significance Intron variant, non coding transcript variant, coding sequence variant, stop gained, missense variant
rs35991093 A>G Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, missense variant
rs41301481 T>A,C,G Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Non coding transcript variant, coding sequence variant, missense variant
rs72705400 A>G Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, synonymous variant
rs137974620 C>G Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
608
miRTarBase ID miRNA Experiments Reference
MIRT002692 hsa-miR-124-3p Microarray 15685193
MIRT711532 hsa-miR-6507-3p HITS-CLIP 19536157
MIRT711531 hsa-miR-4421 HITS-CLIP 19536157
MIRT711530 hsa-miR-5699-3p HITS-CLIP 19536157
MIRT711529 hsa-miR-4744 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0002080 Component Acrosomal membrane IEA
GO:0003281 Process Ventricular septum development IEA
GO:0003413 Process Chondrocyte differentiation involved in endochondral bone morphogenesis IEA
GO:0003713 Function Transcription coactivator activity TAS 9256431
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604505 12305 ENSG00000100815
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15643
Protein name Thyroid receptor-interacting protein 11 (TR-interacting protein 11) (TRIP-11) (Clonal evolution-related gene on chromosome 14 protein) (Golgi-associated microtubule-binding protein 210) (GMAP-210) (Trip230)
Protein function Is a membrane tether required for vesicle tethering to Golgi. Has an essential role in the maintenance of Golgi structure and function (PubMed:25473115, PubMed:30728324). It is required for efficient anterograde and retrograde trafficking in the
Family and domains
Tissue specificity TISSUE SPECIFICITY: Highly expressed in pancreas, muscle, heart, testis, peripheral blood leukocytes, and in several leukemia cell lines. Detected at intermediate levels in placenta and kidney, and at low levels in brain and lung. Isoform 1 and isoform 2
Sequence
MSSWLGGLGSGLGQSLGQVGGSLASLTGQISNFTKDMLMEGTEEVEAELPDSRTKEIEAI
HAILRSENERLKKLCTDLEEKHEASEIQIKQQSTSYRNQLQQKEVEISHLKARQIALQDQ
LLKLQSAAQSVPSGAGVPATTASSSFAYGISHHPSAFHDDDMDFGDIISSQQEINRLSNE
VSRLESEVGHWRHIAQTSKAQGTDNSDQSEICKLQNIIKELKQNRSQEIDDHQHEMSVLQ
NAHQQKLTEISRRHREELSDYEERIEELENLLQQGGSGVIETDLSKIYEMQKTIQVLQIE
KVESTKKMEQLEDKIKDINKKLSSAENDRDILRREQEQLNVEKRQIMEECENLKLECSKL
QPSAVKQSDTMTEKERILAQSASVEEVFRLQQALSDAENEIMRLSSLNQDNSLAEDNLKL
KMRIEVLEKEKSLLSQEKEELQMSLLKLNNEYEVIKSTATRDISLDSELHDLRLNLEAKE
QELNQSISEKETLIAEIEELDRQNQEATKHMILIKDQLSKQQNEGDSIISKLKQDLNDEK
KRVHQLEDDKMDITKELDVQKEKLIQSEVALNDLHLTKQKLEDKVENLVDQLNKSQESNV
SIQKENLELKEHIRQNEEELSRIRNELMQSLNQDSNSNFKDTLLKEREAEVRNLKQNLSE
LEQLNENLKKVAFDVKMENEKLVLACEDVRHQLEECLAGNNQLSLEKNTIVETLKMEKGE
IEAELCWAKKRLLEEANKYEKTIEELSNARNLNTSALQLEHEHLIKLNQKKDMEIAELKK
NIEQMDTDHKETKDVLSSSLEEQKQLTQLINKKEIFIEKLKERSSKLQEELDKYSQALRK
NEILRQTIEEKDRSLGSMKEENNHLQEELERLREEQSRTAPVADPKTLDSVTELASEVSQ
LNTIKEHLEEEIKHHQKIIEDQNQSKMQLLQSLQEQKKEMDEFRYQHEQMNATHTQLFLE
KDEEIKSLQKTIEQIKTQLHEERQDIQTDNSDIFQETKVQSLNIENGSEKHDLSKAETER
LVKGIKERELEIKLLNEKNISLTKQIDQLSKDEVGKLTQIIQQKDLEIQALHARISSTSH
TQDVVYLQQQLQAYAMEREKVFAVLNEKTRENSHLKTEYHKMMDIVAAKEAALIKLQDEN
KKLSTRFESSGQDMFRETIQNLSRIIREKDIEIDALSQKCQTLLAVLQTSSTGNEAGGVN
SNQFEELLQERDKLKQQVKKMEEWKQQVMTTVQNMQHESAQLQEELHQLQAQVLVDSDNN
SKLQVDYTGLIQSYEQNETKLKNFGQELAQVQHSIGQLCNTKDLLLGKLDIISPQLSSAS
LLTPQSAECLRASKSEVLSESSELLQQELEELRKSLQEKDATIRTLQENNHRLSDSIAAT
SELERKEHEQTDSEIKQLKEKQDVLQKLLKEKDLLIKAKSDQLLSSNENFTNKVNENELL
RQAVTNLKERILILEMDIGKLKGENEKIVETYRGKETEYQALQETNMKFSMMLREKEFEC
HSMKEKALAFEQLLKEKEQGKTGELNQLLNAVKSMQEKTVVFQQERDQVMLALKQKQMEN
TALQNEVQRLRDKEFRSNQELERLRNHLLESEDSYTREALAAEDREAKLRKKVTVLEEKL
VSSSNAMENASHQASVQVESLQEQLNVVSKQRDETALQLSVSQEQVKQYALSLANLQMVL
EHFQQEEKAMYSAELEKQKQLIAEWKKNAENLEGKVISLQECLDEANAALDSASRLTEQL
DVKEEQIEELKRQNELRQEMLDDVQKKLMSLANSSEGKVDKVLMRNLFIGHFHTPKNQRH
EVLRLMGSILGVRREEMEQLFHDDQGGVTRWMTGWLGGGSKSVPNTPLRPNQQSVVNSSF
SELFVKFLETESHPSIPPPKLSVHDMKPLDSPGRRKRDTNAPESFKDTAESRSGRRTDVN
PFLAPRSAAVPLINPAGLGPGGPGHLLLKPISDVLPTFTPLPALPDNSAGVVLKDLLKQ
Sequence length 1979
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Intraflagellar transport
Intra-Golgi traffic
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
780
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Achondrogenesis, type IA Pathogenic; Likely pathogenic rs999557873, rs2056447170, rs149562813, rs2140115541, rs2056449254, rs2140131376, rs2057114964, rs758589172, rs2140129581, rs1257379792, rs2057028176, rs747106242, rs2140119519, rs780178406, rs2543078313
View all (40 more)
RCV001329831
RCV001420138
RCV001449731
RCV001844307
RCV001844308
RCV001844309
RCV001885171
RCV001822983
RCV001822984
RCV001933103
RCV001910439
RCV002044703
RCV002007149
RCV001951419
RCV001910868
RCV002310611
RCV002471392
RCV003106837
RCV002571730
RCV002600741
RCV002617151
RCV000005843
RCV000005845
RCV002857141
RCV002914585
RCV003016360
RCV000490493
RCV004577574
RCV003505788
RCV003505601
RCV003505610
RCV003505561
RCV003614387
RCV003613655
RCV003613949
RCV003614602
RCV003615327
RCV003830855
RCV003852835
RCV003866573
RCV002534290
RCV000693887
RCV000704735
RCV000707638
RCV000702579
RCV000757989
RCV000757991
RCV000778420
RCV000802803
RCV000825550
RCV000853520
RCV000853519
RCV000853513
RCV000853512
RCV001051530
RCV001244068
Connective tissue disorder Likely pathogenic; Pathogenic rs1447415684, rs2057009434, rs2056901001 RCV002276894
RCV002278814
RCV002278815
Odontochondrodysplasia 1 Likely pathogenic; Pathogenic rs2056449254, rs267607138, rs1555386022, rs1400419650, rs149079426, rs1566859649, rs780625551, rs1566863801, rs1429820082, rs1566843321, rs1566860640, rs1420691965 RCV003992536
RCV000757981
RCV000625983
RCV000625982
RCV000853509
RCV000757983
RCV000853510
RCV000853508
RCV000757986
RCV000853511
RCV000757988
RCV000757990
See cases Pathogenic rs2542959912 RCV003128542
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Achondrogenesis Likely benign; Uncertain significance rs148331500, rs35251290, rs547231708, rs886050909 RCV000273299
RCV000384300
RCV000267375
RCV000359690
RCV000327438
RCV000381123
Acute myeloid leukemia Benign rs3742719 RCV005893326
Autism spectrum disorder Likely benign rs2543033328 RCV003127263
Cervical cancer Benign; Likely benign rs17127861, rs3742719, rs186074112 RCV005918385
RCV005893328
RCV005893338
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achondrogenesis type 1A Associate 30518689
Carcinoma Renal Cell Associate 29022645
Hepatitis B Associate 30518689
Hypoxia Associate 29022645
Kidney Neoplasms Associate 29022645
Leukemia Associate 9373237
Leukemia Myeloid Acute Associate 9373237
Lung Diseases Associate 26635082
Neoplasms Associate 24919196, 29022645, 33850302