Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	221322
Gene name	TBC1 domain family member 32
Gene symbol	TBC1D32
Synonyms (NCBI Gene)	ALHSABROMIC6orf170C6orf171OFD9RP100
Chromosome	6
Chromosome location	6q22.31
Summary	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

61 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
MIRT741432	hsa-miR-211-3p	HITS-CLIP	23824327
MIRT741433	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT741434	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT741435	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT741436	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT741437	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT741438	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT741439	hsa-miR-1976	HITS-CLIP	23824327
MIRT741440	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT741441	hsa-miR-4279	HITS-CLIP	23824327
MIRT741427	hsa-miR-562	HITS-CLIP	23824327
MIRT741444	hsa-miR-4438	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
MIRT741432	hsa-miR-211-3p	HITS-CLIP	23824327
MIRT741433	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT741436	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT741437	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT741445	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT741440	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT741446	hsa-miR-5095	HITS-CLIP	23824327
MIRT741447	hsa-miR-7151-3p	HITS-CLIP	23824327
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
MIRT741432	hsa-miR-211-3p	HITS-CLIP	23824327
MIRT741433	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT741434	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT741435	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT741436	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT741437	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT741438	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT741439	hsa-miR-1976	HITS-CLIP	23824327
MIRT741440	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT741441	hsa-miR-4279	HITS-CLIP	23824327
MIRT741505	hsa-miR-498	HITS-CLIP	23824327
MIRT741506	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT741507	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT741508	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT741509	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT741510	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT741511	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT741512	hsa-miR-134-3p	HITS-CLIP	23824327
MIRT741513	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT741514	hsa-miR-6735-3p	HITS-CLIP	23824327
MIRT741515	hsa-miR-663b	HITS-CLIP	23824327
MIRT741516	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT741517	hsa-miR-3672	HITS-CLIP	23824327
MIRT741518	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT741519	hsa-miR-7108-5p	HITS-CLIP	23824327
MIRT741520	hsa-miR-8055	HITS-CLIP	23824327
MIRT741521	hsa-miR-129-5p	HITS-CLIP	23824327

22 Show/Hide all (22)

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
GO:0005929	Component	Cilium	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0021532	Process	Neural tube patterning	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060831	Process	Smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA
GO:0061512	Process	Protein localization to cilium	IEA
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
615867	21485	ENSG00000146350

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

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (6)
Alsahan-Harris syndrome	Likely pathogenic	rs587777505	RCV005627210	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ciliopathy	Likely pathogenic; Pathogenic	rs200603439	RCV003994535	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypopituitarism	Likely pathogenic; Pathogenic	rs200603439	RCV003225655	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 36	Likely pathogenic	rs748798523	RCV004515791	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofaciodigital syndrome IX	Likely pathogenic; Pathogenic	rs587777505, rs200603439	RCV005627209 RCV003985116	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TBC1D32-related disorder	Likely pathogenic	rs1434804006	RCV003408393	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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. Show/Hide Unknown Diseases (10)
Acute myeloid leukemia	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	40645996	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	38411962	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME	—	GWAS catalog	32573025	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME 9	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME TYPE 9	—	Orphanet	32060556	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROMES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL EPILEPSY	—	GWAS catalog	30531953	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (8)
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	37768732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	24285566		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Lip	Cleft lip	Pubtator	32060556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	32060556	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofacial Cleft 1	Orofacial cleft	Pubtator	40147726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome 9	Orofaciodigital syndrome	GENOMICS_ENGLAND_DG	24285566		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteofibrous Dysplasia	Osteofibrous Dysplasia	GENOMICS_ENGLAND_DG	24285566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	37768732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TMEM107	3	["Ciliopathy","Joubert syndrome","Orofaciodigital syndrome"]	[]	6	["Disgenet (Ciliopathy)","GWAS catalog (Ciliopathy)","Disgenet (Joubert syndrome)","Disgenet (Orofaciodigital syndrome)","ClinVar (Orofaciodigital syndrome)","GWAS catalog (Orofaciodigital syndrome)"]
DDX59	2	["Ciliopathy","Orofaciodigital syndrome"]	[]	5	["ClinGen (Ciliopathy)","Disgenet (Orofaciodigital syndrome)","ClinVar (Orofaciodigital syndrome)","GWAS catalog (Orofaciodigital syndrome)","Orphanet (Orofaciodigital syndrome)"]
PDE6D	3	["Ciliopathy","Joubert syndrome","Orofaciodigital syndrome"]	[]	4	["ClinGen (Ciliopathy)","Disgenet (Joubert syndrome)","Disgenet (Orofaciodigital syndrome)","Orphanet (Orofaciodigital syndrome)"]
TCTN3	3	["Ciliopathy","Joubert syndrome","Orofaciodigital syndrome"]	[]	7	["Disgenet (Ciliopathy)","ClinGen (Ciliopathy)","Disgenet (Joubert syndrome)","Disgenet (Orofaciodigital syndrome)","ClinVar (Orofaciodigital syndrome)","GWAS catalog (Orofaciodigital syndrome)","Orphanet (Orofaciodigital syndrome)"]
IFT57	2	["Ciliopathy","Orofaciodigital syndrome"]	[]	4	["ClinGen (Ciliopathy)","ClinVar (Orofaciodigital syndrome)","GWAS catalog (Orofaciodigital syndrome)","Orphanet (Orofaciodigital syndrome)"]

TBC1D32 (TBC1 domain family member 32)

Bookmark This Gene