Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9321
Gene name Gene Name - the full gene name approved by the HGNC.
Thyroid hormone receptor interactor 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRIP11
Synonyms (NCBI Gene) Gene synonyms aliases
ACG1A, CEV14, GMAP-210, GMAP210, ODCD, ODCD1, TRIP-11, TRIP230
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ACG1A, ODCD1
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0002079 Component Inner acrosomal membrane IEA
GO:0002081 Component Outer acrosomal membrane IEA
GO:0003281 Process Ventricular septum development IEA
GO:0003413 Process Chondrocyte differentiation involved in endochondral bone morphogenesis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604505 12305 ENSG00000100815
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Achondrogenesis Achondrogenesis type 1A rs386833498, rs786200881, rs104893919, rs104893920, rs104893916, rs386833492, rs104893924, rs267607138, rs863223281, rs121912876, rs121912878, rs121912879, rs121912884, rs121912888, rs121912899
View all (66 more)
20089971
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Dentinogenesis imperfecta Dentinogenesis Imperfecta rs121912985, rs1560477489, rs121912987, rs121912989, rs1560480632, rs67707918, rs66883877
Developmental delay Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Mental Depression Mental Depression GWAS
Associations from Text Mining
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