TCTN3

TCTN3
Identifiers
Aliases	TCTN3 , C10orf61, JBTS18, OFD4, TECT3, tectonic family member 3
External IDs	OMIM: 613847; MGI: 1914840; HomoloGene: 9221; GeneCards: TCTN3; OMA:TCTN3 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) [1] Band 10q24.1 Start 95,659,823 bp [1] End 95,694,143 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19|19 C3 Start 40,584,890 bp [2] End 40,600,677 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis decidua stromal cell of endometrium islet of Langerhans caput epididymis right lobe of thyroid gland pancreatic ductal cell left lobe of thyroid gland gallbladder tail of epididymis Top expressed in fourth ventricle choroid plexus of fourth ventricle choroidal fissure spermatocyte saccule otic vesicle spermatid lumbar subsegment of spinal cord islet of Langerhans visual cortex More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 26123 67590 Ensembl ENSG00000119977 ENSMUSG00000025008 UniProt Q6NUS6 Q8R2Q6 RefSeq (mRNA) NM_001143973 NM_015631 NM_026260 NM_001365072 RefSeq (protein) NP_001137445 NP_056446 NP_080536 NP_001352001 Location (UCSC) Chr 10: 95.66 – 95.69 Mb Chr 19: 40.58 – 40.6 Mb PubMed search [3] [4]
Wikidata
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Tectonic family member 3 is a protein in humans that is encoded by the TCTN3 gene. ^[5]

This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Oral-facial-digital syndrome IV and Joubert syndrome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012].

References

1. GRCh38: Ensembl release 89: ENSG00000119977 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025008 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Tectonic family member 3" . Retrieved 2012-12-22.