Gene: ENSG00000078246 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000078246
Transcript Identifier
ENST00000397132
Gene Type
Coding gene
Location
12 : 2890948-2940726 : positive

Family Information

Homologous gene family
HOM03P000407
(110 genes in 31 species)
specific family
Orthologous gene family
ORTHO03P001659
(36 genes in 27 species)
specific family

Descriptions

gene_descr
tubby like protein 3

Identifiers

Type Value
pidENSP00000380321
HGNC12425
UniprotO75386

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0001841
IEA
Genome Projectneural tube formation
GO:0001843
IEA
Genome Projectneural tube closure
GO:0006355
NAS
Genome Projectregulation of transcription, DNA-templated
GO:0007186
NAS
Genome ProjectG-protein coupled receptor signaling pathway
GO:0007275
IEA
Genome Projectmulticellular organismal development
GO:0007420
IEA
Genome Projectbrain development
GO:0008277
IDA
Genome Projectregulation of G-protein coupled receptor protein signaling pathway
GO:0008589
IEA
Genome Projectregulation of smoothened signaling pathway
GO:0009952
IEA
Genome Projectanterior/posterior pattern specification
GO:0021904
IEA
Genome Projectdorsal/ventral neural tube patterning
GO:0021914
IEA
Genome Projectnegative regulation of smoothened signaling pathway involved in ventral spinal cord patterning
GO:0021915
IEA
Genome Projectneural tube development
GO:0021953
IEA
Genome Projectcentral nervous system neuron differentiation
GO:0031076
IEA
Genome Projectembryonic camera-type eye development
GO:0042733
IEA
Genome Projectembryonic digit morphogenesis
GO:0045879
IDA
Genome Projectnegative regulation of smoothened signaling pathway
GO:0048702
IEA
Genome Projectembryonic neurocranium morphogenesis
GO:0060173
IEA
Genome Projectlimb development
GO:0060348
IEA
Genome Projectbone development
GO:0060434
IEA
Genome Projectbronchus morphogenesis
GO:0060831
IEA
Genome Projectsmoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:0061548
IEA
Genome Projectganglion development
GO:0097500
IBA
Genome Projectreceptor localization to nonmotile primary cilium
GO:1901621
IEA
Genome Projectnegative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:1903546
IBA
Genome Projectprotein localization to photoreceptor outer segment

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005515
IPI
Genome Projectprotein binding
GO:0005546
NAS
Genome Projectphosphatidylinositol-4,5-bisphosphate binding
GO:0019899
IPI
Genome Projectenzyme binding
GO:0032403
IDA
Genome Projectprotein complex binding
GO:0035091
IDA
Genome Projectphosphatidylinositol binding

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005576
IEA
Genome Projectextracellular region
GO:0005634
IDA
NAS, IEA
Genome Projectnucleus
GO:0005730
IDA
Genome Projectnucleolus
GO:0005737
IEA
Genome Projectcytoplasm
GO:0005886
IDA
NAS, IEA
Genome Projectplasma membrane
GO:0005929
IDA
IEA
Genome Projectcilium
GO:0005930
IEA
Genome Projectaxoneme
GO:0016020
IEA
Genome Projectmembrane
GO:0042995
IEA
Genome Projectcell projection
GO:0072372
IDA
TAS
Genome Projectprimary cilium
GO:0097546
IDA
Genome Projectciliary base
GO:0030991
IDA
Genome Projectintraciliary transport particle A

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
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InterPro Description
IPR000007Tubby, C-terminal
IPR005398Tubby, N-terminal
IPR018066Tubby, C-terminal, conserved site
IPR025659Tubby C-terminal-like domain

No MapMan annotations defined for this gene.