TBC1D32 (TBC1 domain family member 32)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
221322
Gene name Gene Name - the full gene name approved by the HGNC.
TBC1 domain family member 32
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBC1D32
Synonyms (NCBI Gene) Gene synonyms aliases
ALHSA, BROMI, C6orf170, C6orf171, OFD9, RP100
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q22.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternati
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(61)
miRTarBase ID miRNA Experiments Reference
MIRT741427 hsa-miR-562 HITS-CLIP 23824327
MIRT741428 hsa-miR-6165 HITS-CLIP 23824327
MIRT741429 hsa-miR-4690-5p HITS-CLIP 23824327
MIRT741430 hsa-miR-6510-5p HITS-CLIP 23824327
MIRT741431 hsa-miR-5697 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IEA
GO:0002088 Process Lens development in camera-type eye IEA
GO:0003406 Process Retinal pigment epithelium development IEA
GO:0005515 Function Protein binding IPI 30905400
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615867 21485 ENSG00000146350
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96NH3
Protein name Protein broad-minded (TBC1 domain family member 32)
Protein function Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in respon
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14961 BROMI 12 → 859 Broad-minded protein Family
PF14961 BROMI 856 → 1254 Broad-minded protein Family
Sequence 
MAHFSSEDQAMLQAMLRRLFQSVKEKITGAPSLECAEEILLHLEETDENFHNYEFVKYLR
QHIGNTLGSMIEEEMEKCTSDRNQGEECGYDTVVQQVTKRTQESKEYKEMMHYLKNIMIA
VVESMINKFEEDETRNQERQKKIQKEKSHSYRTDNCSDSDSSLNQSYKFCQGKLQLILDQ
LDPGQPKEVRYEALQTLCSAPPSDVLNCENWTTLCEKLTVSLSDPDPVFSDRILKFCAQT
FLLSPLHMTKEIYTSLAKYLESYFLSRENHIPTLSAGVDITNPNMTRLLKKVRLLNEYQK
EAPSFWIRHPEKYMEEIVESTLSLLTVKHNQSHVVSQKILDPIYFFALVDTKAVWFKKWM
HAHYSRTTVLRLLETKYKSLVTTAIQQCVQYFEMCKTRKADETLGHSKHCRNKQKTFYYL
GQELQYIYFIHSLCLLGRLLIYKQGRKLFPIKLKNKKGLVSLIDLLVLFTQLIYYSPSCP
KMTSAAHSENYSPASMVTEVLWILSDQKECAVECLYNNIVIETLLQPIHNLMKGNEASPN
CSETALIHIAGILARIASVEEGLILLLYGANMNSSEESPTGAHIIAQFSKKLLDEDISIF
SGSEMLPVVKGAFISVCRHIYSTCEGLQVLITYNLHESIAKAWKKTSLLSERIPTPVEGS
DSVSSVSQESQNIMAWEDNLLDDLLHFAATPKGLLLLQRTGAINECVTFIFNRYAKKLQV
SRHKKFGYGVLVTRVASTAAGGIALKKSGFINELITELWSNLEYGRDDVRVTHPRTTPVD
PIDRSCQKSFLALVNLLSYPAIYELVRNQDLPNKTEYSLREVPTCVIDIIDRLIILNSEA
KIRSLFNYEQSHIFGLRDFIIDGLSVERNHVLVRINLVGGPLERILPPRLLEKSDNPYPW
PMFSSYPLPNCYLSDITRNAGIKQDNDLDKLLLCLKISDKQTEWIENCQRQFCKMMKAKP
DIISGEALIELLEKFVLHLTESPSECYFPSVEYTATDANVKNESLSSVQQLGIKMTVRYG
KFLSLLKDGAENDLTWVLKHCERFLKQQQTSIKSSLLCLQGNYAGHDWFVSSLFMIMLGD
KEKTFQFLHQFSRLLTSAFLWLPRLHISSYLPNDTVESGIHPVYFCSTHYIEMLLKAELP
LVFSAFHMSGFAPSQICLQWITQCFWNYLDWIEICHYIATCVFLGPDYQVYICIAVFKHL
QQDILQHTQTQDLQVFLKEEALHGFRVSDYFEYMEILEQNYRTVLLRDMRNIRLQST
Sequence length 1257
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Orofaciodigital syndrome Orofaciodigital syndrome 9 rs122460150, rs312262822, rs312262833, rs312262886, rs312262890, rs2139738553, rs387907273, rs793888507, rs768525869, rs312262863, rs312262868, rs312262887, rs312262821, rs312262834, rs312262845
View all (42 more)		 24285566
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Osteofibrous dysplasia Osteofibrous Dysplasia 24285566 ClinVar
Show/Hide Text Mining Associations (7)
Associations from Text Mining
Disease Name Relationship Type References
Ciliary Motility Disorders Associate 37768732
Cleft Lip Associate 32060556
Hypopituitarism Associate 32060556
Orofacial Cleft 1 Associate 40147726
Pituitary Diseases Associate 32060556
Retinitis Pigmentosa Associate 37768732
Volvulus Of Midgut Associate 32060556