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TCTN3 tectonic family member 3 [ Homo sapiens (human) ]

Gene ID: 26123, updated on 8-Jul-2021

Summary

Official Symbol
TCTN3provided by HGNC
Official Full Name
tectonic family member 3provided by HGNC
Primary source
HGNC:HGNC:24519
See related
Ensembl:ENSG00000119977 MIM:613847
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OFD4; TECT3; JBTS18; C10orf61
Summary
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 Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]
Expression
Ubiquitous expression in thyroid (RPKM 49.4), ovary (RPKM 15.6) and 25 other tissues See more
Orthologs
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Genomic context

See TCTN3 in Genome Data Viewer
Location:
10q24.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (95663401..95693954, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (97423158..97453684, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RPS3A pseudogene 36 Neighboring gene aldehyde dehydrogenase 18 family member A1 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 1 Neighboring gene ENTPD1 antisense RNA 1 Neighboring gene coiled-coil and C2 domain containing 2B Neighboring gene ribosomal protein L21 pseudogene 90

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp564D116

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in ciliary membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

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.

Genomic

  1. NG_032953.1 RefSeqGene

    Range
    5217..35743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143973.2NP_001137445.1  tectonic-3 isoform b precursor

    See identical proteins and their annotated locations for NP_001137445.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks four alternate exons in the mid coding region, compared to variant 1, which results in the loss of two in-frame segments. The resulting isoform (b) is shorter than isoform a.
    Source sequence(s)
    AI375376, AK299141, BI561516
    Consensus CDS
    CCDS44461.1
    UniProtKB/Swiss-Prot
    Q6NUS6
    Related
    ENSP00000387567.1, ENST00000430368.6
    Conserved Domains (1) summary
    pfam07773
    Location:90242
    DUF1619; Protein of unknown function (DUF1619)
  2. NM_015631.6NP_056446.4  tectonic-3 isoform a precursor

    See identical proteins and their annotated locations for NP_056446.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC068449, CN427798
    Consensus CDS
    CCDS31258.2
    UniProtKB/Swiss-Prot
    Q6NUS6
    Related
    ENSP00000360261.5, ENST00000371217.10
    Conserved Domains (1) summary
    pfam07773
    Location:90390
    DUF1619; Protein of unknown function (DUF1619)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    95663401..95693954 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447935.1XP_024303703.1  tectonic-3 isoform X3

    Related
    ENSP00000506398.1, ENST00000680144.1
    Conserved Domains (1) summary
    pfam07773
    Location:108381
    DUF1619; Protein of unknown function (DUF1619)
  2. XM_005269690.2XP_005269747.1  tectonic-3 isoform X2

    Conserved Domains (1) summary
    pfam07773
    Location:108381
    DUF1619; Protein of unknown function (DUF1619)
  3. XM_011539627.2XP_011537929.1  tectonic-3 isoform X1

    Related
    ENSP00000483364.2, ENST00000614499.5
    Conserved Domains (1) summary
    pfam07773
    Location:108408
    DUF1619; Protein of unknown function (DUF1619)
  4. XM_011539628.2XP_011537930.1  tectonic-3 isoform X4

    Conserved Domains (1) summary
    pfam07773
    Location:108408
    DUF1619; Protein of unknown function (DUF1619)
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