Tctn3 tectonic family member 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tctn3provided by MGI
Official Full Name: tectonic family member 3provided by MGI
Primary source: MGI:MGI:1914840
See related: Ensembl:ENSMUSG00000025008 AllianceGenome:MGI:1914840
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: Tect3; 4930521E07Rik
Summary: Involved in cilium assembly. Predicted to be located in nucleus. Is expressed in choroid invagination; diencephalon roof plate; medulla oblongata part of 4th ventricle choroid plexus; metencephalon part of 4th ventricle choroid plexus; and olfactory epithelium. Human ortholog(s) of this gene implicated in Joubert syndrome 18 and orofaciodigital syndrome IV. Orthologous to human TCTN3 (tectonic family member 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary adult (RPKM 7.9), testis adult (RPKM 7.3) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 34.25 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (40584890..40600768, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (40596446..40612324, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

results show that Tctn3 KO disrupts the Shh signaling pathway and neural tube patterning, resulting in abnormal embryonic development, cellular apoptosis, and prenatal death in mice.
Title: Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice.
These results suggest that Tctn1, Tctn2, and Tctn3 are functionally divergent with respect to their role in ciliogenesis and Hedgehog signaling but conserved in neural tube patterning and Gli3 processing.
Title: Three Tctn proteins are functionally conserved in the regulation of neural tube patterning and Gli3 processing but not ciliogenesis and Hedgehog signaling in the mouse.

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Variation

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Alleles

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

Targeted (4) 1 citation
Endonuclease-mediated (1)

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in smoothened signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: tectonic-3

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_001365072.1 → NP_001352001.1 tectonic-3 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AK030156, AW491485, DQ278871

Consensus CDS

CCDS89390.1

UniProtKB/TrEMBL

A0A0R4J1W4

Related

ENSMUSP00000121760.2, ENSMUST00000132452.2

Conserved Domains (1) summary

pfam07773
Location:78 → 354

DUF1619; Protein of unknown function (DUF1619)
NM_026260.3 → NP_080536.2 tectonic-3 isoform 1 precursor

See identical proteins and their annotated locations for NP_080536.2

Status: VALIDATED

Source sequence(s)

AC142101, AC166063

Consensus CDS

CCDS29804.1

UniProtKB/Swiss-Prot

Q8CDF3, Q8R2Q6, Q9CRC5

Related

ENSMUSP00000025981.9, ENSMUST00000025981.15

Conserved Domains (1) summary

pfam07773
Location:78 → 379

DUF1619; Protein of unknown function (DUF1619)

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_000085.7 Reference GRCm39 C57BL/6J

Range

40584890..40600768 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030251056.2 → XP_030106916.1 tectonic-3 isoform X1

Conserved Domains (1) summary

pfam07773
Location:15 → 96

DUF1619; Protein of unknown function (DUF1619)