GenTIGS

SUFU negative regulator of hedgehog signaling (SUFU) Associated conditions: 1. Joubert syndrome 2. Gorlin syndrome

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001178133.2	NP_001171604.1	NC_000010.11	(102502818..102633534)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_016169.4	NP_057253.2	NC_000010.11	(102502818..102633534)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1128 reference articles

Variant Information SUFU negative regulator of hedgehog signaling (SUFU) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene SUFU negative regulator of hedgehog signaling (SUFU)

ClinVar variants:Revealing mutagenic patterns

GO Term of SUFU negative regulator of hedgehog signaling (SUFU)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	acts_upstream_of_or_within	negative regulation of transcription by RNA polymerase II	Process	10564661
2	Homo sapiens	IEA	involved_in	negative regulation of transcription by RNA polymerase II	Process	-
3	Homo sapiens	TAS	involved_in	negative regulation of transcription by RNA polymerase II	Process	11001584
4	Homo sapiens	TAS	enables	transcription corepressor activity	Function	10559945 10564661
5	Homo sapiens	IPI	enables	protein binding	Function	10564661 10806483 16189514 20211142 22439934 24035498 24217340 24311597 25241761 25416956 25609649 27234298 28514442 28965847 31403225 31515488 32296183 32814053 33961781 35140242 35512704 40205054
6	Homo sapiens	IBA	is_active_in	nucleus	Component	-
7	Homo sapiens	IDA	located_in	nucleus	Component	10806483
8	Homo sapiens	IEA	located_in	nucleus	Component	-
9	Homo sapiens	IMP	located_in	nucleus	Component	28965847
10	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
11	Homo sapiens	IBA	is_active_in	cytoplasm	Component	-
12	Homo sapiens	IDA	is_active_in	cytoplasm	Component	10559945
13	Homo sapiens	IDA	located_in	cytoplasm	Component	10564661 10806483
14	Homo sapiens	IEA	located_in	cytoplasm	Component	-
15	Homo sapiens	IMP	located_in	cytoplasm	Component	28965847
16	Homo sapiens	NAS	located_in	cytoplasm	Component	10564661
17	Homo sapiens	IEA	located_in	cytosol	Component	-
18	Homo sapiens	TAS	located_in	cytosol	Component	-
19	Homo sapiens	IEA	located_in	cilium	Component	-
20	Homo sapiens	IDA	involved_in	regulation of DNA-templated transcription	Process	24311597
21	Homo sapiens	TAS	involved_in	regulation of DNA-templated transcription	Process	10564661
22	Homo sapiens	IEA	involved_in	signal transduction	Process	-
23	Homo sapiens	TAS	involved_in	signal transduction	Process	10559945
24	Homo sapiens	IEA	involved_in	spermatid development	Process	-
25	Homo sapiens	IEA	enables	beta-catenin binding	Function	-
26	Homo sapiens	IEA	involved_in	positive regulation of protein processing	Process	-
27	Homo sapiens	IPI	enables	protein kinase binding	Function	20643644
28	Homo sapiens	IEA	enables	protein-macromolecule adaptor activity	Function	-
29	Homo sapiens	TAS	involved_in	negative regulation of protein import into nucleus	Process	11001584
30	Homo sapiens	TAS	involved_in	negative regulation of osteoblast differentiation	Process	11001584
31	Homo sapiens	IBA	involved_in	negative regulation of smoothened signaling pathway	Process	-
32	Homo sapiens	IDA	involved_in	negative regulation of smoothened signaling pathway	Process	10559945 35831023 38968120
33	Homo sapiens	IEA	involved_in	negative regulation of smoothened signaling pathway	Process	-
34	Homo sapiens	IMP	involved_in	negative regulation of smoothened signaling pathway	Process	27234298 28965847
35	Homo sapiens	TAS	involved_in	negative regulation of smoothened signaling pathway	Process	11001584
36	Homo sapiens	TAS	located_in	ciliary tip	Component	-
37	Homo sapiens	TAS	located_in	ciliary base	Component	-
38	Homo sapiens	IEA	located_in	non-motile cilium	Component	-
39	Homo sapiens	IDA	enables	protein sequestering activity	Function	10559945 24311597 35831023 38968120
40	Homo sapiens	IEA	enables	protein sequestering activity	Function	-
41	Homo sapiens	IEA	involved_in	positive regulation of cellular response to drug	Process	-