Teneurin Transmembrane Protein 3

Alternative Names

  • TENM3
  • ODZ, Drosophila, Homolog Of, 3
  • ODZ3
  • Tenascin M3
  • TNM3
  • KIAA1455
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OMIM Number

610083

NCBI Gene ID

55714

Uniprot ID

Q9P273

Length

1,355,412 bases

No. of Exons

40

No. of isoforms

1

Protein Name

Teneurin-3

Molecular Mass

300950 Da

Amino Acid Count

2699

Genomic Location

chr4:181,447,613-182,803,024

Gene Map Locus
4q34.3-q35.1

Description

The TENM3 gene encodes a transmembraneprotein of 2699 amino acids that is expressed in adult and fetal brain, slightly lower levels in testis and ovary, and intermediate levels in all other peripheral tissues.  It may be involved in neural development, regulating the establishment of proper connectivity within the nervous system.  It also plays a role in the development of the visual pathway.  Defects in this protein have been associated with microphthalmia, isolated, with coloboma 9, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001080477.4:c.2083dupSaudi ArabiaNC_000004.12:g.182688213dupPathogenicPathogenicMicrophthalmia, Isolated, with Coloboma 9NG_042859.1:g.449783dup; NM_001080477.4:c.2083dup; NP_001073946.1:p.Thr695AsnfsTer558777695041420
NM_001080477.4:c.6006_6009delEgypt; Saudi ArabiaNC_000004.12:g.182792678_182792681delPathogenicMicrophthalmia, Isolated, with Coloboma 9NG_042859.1:g.554248_554251del; NM_001080477.4:c.6006_6009del; NP_001073946.1:p.Gln2003PhefsTer10
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