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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (51 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Connective tissue disorder Likely pathogenic; Pathogenic rs1447415684, rs2057009434, rs2056901001 RCV002276894
RCV002278814
RCV002278815
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Odontochondrodysplasia 1 Likely pathogenic; Pathogenic rs2056449254, rs267607138, rs1555386022, rs1400419650, rs149079426, rs1566859649, rs780625551, rs1566863801, rs1429820082, rs1566843321, rs1566860640, rs1420691965 RCV003992536
RCV000757981
RCV000625983
RCV000625982
RCV000853509
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TRIP11-related disorder Pathogenic; Likely pathogenic rs981921410, rs2543025683 RCV003410448
RCV003402819
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Achondrogenesis Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ACHONDROGENESIS TYPE IA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Achondrogenesis type 1A Achondrogenesis ORPHANET_DG 20089971
★☆☆☆☆
Found in Text Mining only
Achondrogenesis type 1A Achondrogenesis GENOMICS_ENGLAND_DG 20089971
★☆☆☆☆
Found in Text Mining only
Achondrogenesis type 1A Achondrogenesis CLINVAR_DG 20089971
★☆☆☆☆
Found in Text Mining only
Achondrogenesis type 1A Achondrogenesis Orphanet
★☆☆☆☆
Found in Text Mining only
Achondrogenesis type 1A Achondrogenesis BEFREE 29180569
★☆☆☆☆
Found in Text Mining only
Achondrogenesis type 1A Achondrogenesis CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Acromelia Acromelia CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 29022645 Associate
★☆☆☆☆
Found in Text Mining only