Transmembrane Protein 138

Alternative Names

  • TMEM138

Associated Diseases

Joubert Syndrome 16
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OMIM Number

614459

NCBI Gene ID

51524

Uniprot ID

Q9NPI0

Length

15,881 bases

No. of Exons

8

No. of isoforms

3

Protein Name

Transmembrane protein 138

Molecular Mass

19262 Da

Amino Acid Count

162

Genomic Location

chr11:61,362,344-61,378,224

Gene Map Locus
11q12.2

Description

TMEM138 encodes a member of the tetraspanin family of mulit-pass transmembrane proteins.  Among various protein networks in primary cilia, proteins of the tectonic complex were found to partly play a role in transporting intracellular vesicles to the cilium.  TMEM138 is thought to function as part of this complex by marking post-Golgi vesicles that carry ciliary proteins.  TMEM138-tagged vesicles and other transmembrane tagged vesicles are tethered in transport to the base of the cilium, a requirement for ciliary assembly and function.  Dysfunctional ciliary genes result in various ciliopathies that arise due to absent or underdeveloped cilia.

TMEM138 dysfunction results in autosomal recessive Joubert Syndrome 16 (JBTS16), a neurodevelopmental and multi-visceral disorder characterized by the Molar Tooth Sign (MTS), a mid-hindbrain malformation easily identifiable through an axial brain MRI scan. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_016464.5:c.128+5G>AUnited Arab EmiratesNC_000011.10:g.61364523G>ALikely Pathogenic, PathogenicPathogenicJoubert Syndrome 16NG_032581.1:g.7523G>A; NM_016464.5:c.128+5G>A; NP_057548.1:p.?91740409731187
NM_016464.5:c.376G>AEgyptchr11:61367998PathogenicPathogenicJoubert Syndrome 16NG_032581.1:g.10998G>A; NM_016464.5:c.376G>A; NP_057548.1:p.Ala126Thr38790713431190
NM_016464.5:c.377-3C>GSyriaNC_000011.10:g.61368594C>GPathogenicLikely PathogenicJoubert Syndrome 16NG_032581.1:g.11594C>G; NM_016464.5:c.377-3C>G774110963917959
NM_016464.5:c.380C>TUnited Arab EmiratesNC_000011.10:g.61368600C>TPathogenicPathogenicJoubert Syndrome 16NG_032581.1:g.11600C>T; NM_016464.5:c.380C>T; NP_057548.1:p.Ala127Val38790713331189
NM_016464.5:c.389A>GOman; United Arab Emir...NC_000011.10:g.61368609A>GUncertain SignificanceLikely Pathogenic, PathogenicJoubert Syndrome 16NG_032581.1:g.11609A>G; NM_016464.5:c.389A>G; NP_057548.1:p.Tyr130Cys38790713531191
NM_016464.5:c.465G>AYemenNC_000011.10:g.61368685G>AUncertain SignificanceNG_032581.1:g.11685G>A; NM_016464.5:c.465G>A; NP_057548.1:p.Lys155=141851191642950
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