Ttc21b tetratricopeptide repeat domain 21B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ttc21bprovided by MGI
Official Full Name: tetratricopeptide repeat domain 21Bprovided by MGI
Primary source: MGI:MGI:1920918
See related: Ensembl:ENSMUSG00000034848 AllianceGenome:MGI:1920918
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: aln; Thm1; mKIAA1992; 2410066K11Rik
Summary: Enables chromatin binding activity. Acts upstream of or within several processes, including central nervous system development; intraciliary retrograde transport; and regulation of signal transduction. Part of intraciliary transport particle A. Is expressed in central nervous system; embryo ectoderm; limb; and somite. Used to study cystic kidney disease. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy 4 and nephronophthisis 12. Orthologous to human TTC21B (tetratricopeptide repeat domain 21B). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis adult (RPKM 13.3), CNS E14 (RPKM 4.5) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C1.3; 2 39.08 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (66014131..66087144, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (66183787..66256674, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ttc21b deficiency attenuates autosomal dominant polycystic kidney disease in a kidney tubular- and maturation-dependent manner.
Title: Ttc21b deficiency attenuates autosomal dominant polycystic kidney disease in a kidney tubular- and maturation-dependent manner.
IFT-A deficiency in juvenile mice impairs biliary development and exacerbates ADPKD liver disease.
Title: IFT-A deficiency in juvenile mice impairs biliary development and exacerbates ADPKD liver disease.
Thm2 interacts with paralog, Thm1, and sensitizes to Hedgehog signaling in postnatal skeletogenesis.
Title: Thm2 interacts with paralog, Thm1, and sensitizes to Hedgehog signaling in postnatal skeletogenesis.
MetAP2 inhibition reduces food intake and body weight in a ciliopathy mouse model of obesity.
Title: MetAP2 inhibition reduces food intake and body weight in a ciliopathy mouse model of obesity.
The role of IFT-A, an intraflagellar transport A (IFT-A) component, in hyperphagia, obesity, and metabolic syndrome was studied.
Title: Intraflagellar-transport A dysfunction causes hyperphagia-induced systemic insulin resistance in a pre-obese state.
This validated Gpr63 as a modifier of multiple Ttc21b neural phenotypes and strongly supports Gpr63 as a causal gene (i.e., a quantitative trait gene, QTG) within the Moaq1 QTL.
Title: Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants.
Thm1-mutant ciliary defect diminishes sensitivity to feeding signals, which alters appetite regulation and leads to hyperphagia, obesity and metabolic disease.
Title: Dysfunction of intraflagellar transport-A causes hyperphagia-induced obesity and metabolic syndrome.
genetically ablated Kif3a, Ift88, and Ttc21b in a series of specific spatiotemporal domains. The resulting phenotypes allow us to draw several conclusions. First, we conclude that the Ttc21b cortical phenotype is not due to the activity of Ttc21b within the brain itself
Title: Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development.
loss of Thm1 causes cystic kidney disease, with persistent proliferation of renal cells, elevated cAMP levels, and enhanced expression of Hedgehog signaling genes
Title: Downregulating hedgehog signaling reduces renal cystogenic potential of mouse models.
Data characterize the forebrain phenotype caused by loss of Ttc21b, a gene we identified in an ENU mutagenesis screen as a novel ciliary gene required for retrograde intraflagellar transport.
Title: Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Bergmann glial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebellar Purkinje cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebellum development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary retrograde transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intraciliary retrograde transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intraciliary retrograde transport	ISO Inferred from Sequence Orthology more info
involved_in intraciliary retrograde transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within negative regulation of eating behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to cilium	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein localization to non-motile cilium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intraciliary retrograde transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of intraciliary retrograde transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cilium	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of intraciliary transport particle A	IBA Inferred from Biological aspect of Ancestor more info
part_of intraciliary transport particle A	IDA Inferred from Direct Assay more info	PubMed
part_of intraciliary transport particle A	ISO Inferred from Sequence Orthology more info
part_of intraciliary transport particle A	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: tetratricopeptide repeat protein 21B

Names: TPR repeat protein 21B; intraflagellar transport 139 homolog; line 158; tetratricopeptide repeat-containing hedgehog modulator 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001047604.3 → NP_001041069.1 tetratricopeptide repeat protein 21B isoform a

See identical proteins and their annotated locations for NP_001041069.1

Status: VALIDATED

Source sequence(s)

AL844526, AL928586

Consensus CDS

CCDS16076.1

UniProtKB/Swiss-Prot

Q0HA38, Q3V1U7, Q69Z46

Related

ENSMUSP00000099779.4, ENSMUST00000102718.10

Conserved Domains (4) summary

sd00006
Location:883 → 911

TPR; TPR repeat [structural motif]

pfam00515
Location:721 → 754

TPR_1; Tetratricopeptide repeat

pfam13414
Location:720 → 783

TPR_11; TPR repeat

pfam14559
Location:895 → 960

TPR_19; Tetratricopeptide repeat
NM_001290669.2 → NP_001277598.1 tetratricopeptide repeat protein 21B isoform b

Status: VALIDATED

Source sequence(s)

AL844526, AL928586

Consensus CDS

CCDS71061.1

UniProtKB/TrEMBL

E9PVK4

Related

ENSMUSP00000131758.2, ENSMUST00000125446.3

Conserved Domains (4) summary

sd00006
Location:883 → 911

TPR; TPR repeat [structural motif]

pfam00515
Location:721 → 754

TPR_1; Tetratricopeptide repeat

pfam13414
Location:720 → 783

TPR_11; TPR repeat

pfam14559
Location:895 → 960

TPR_19; Tetratricopeptide repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

66014131..66087144 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030252122.2 → XP_030107982.1 tetratricopeptide repeat protein 21B isoform X2

Conserved Domains (2) summary

TIGR02917
Location:313 → 1048

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:883 → 911

TPR; TPR repeat [structural motif]
XM_006500263.5 → XP_006500326.1 tetratricopeptide repeat protein 21B isoform X1

Conserved Domains (2) summary

TIGR02917
Location:313 → 1048

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:883 → 911

TPR; TPR repeat [structural motif]