Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TMEM138 Gene

Aliases for TMEM138 Gene

  • Transmembrane Protein 138 2 3
  • HSPC196 3
  • JBTS16 6

External Ids for TMEM138 Gene

Summaries for TMEM138 Gene

Entrez Gene Summary for TMEM138 Gene

  • This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

GeneCards Summary for TMEM138 Gene

TMEM138 (Transmembrane Protein 138) is a Protein Coding gene. Diseases associated with TMEM138 include joubert syndrome 16 and tmem138-related joubert syndrome.

UniProtKB/Swiss-Prot for TMEM138 Gene

  • Required for ciliogenesis.

Gene Wiki entry for TMEM138 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM138 Gene

Genomics for TMEM138 Gene

Genomic Location for TMEM138 Gene

Start:
61,362,001 bp from pter
End:
61,369,509 bp from pter
Size:
7,509 bases
Orientation:
Plus strand

Genomic View for TMEM138 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM138 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM138 Gene

Regulatory Elements for TMEM138 Gene

Proteins for TMEM138 Gene

  • Protein details for TMEM138 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPI0-TM138_HUMAN
    Recommended name:
    Transmembrane protein 138
    Protein Accession:
    Q9NPI0
    Secondary Accessions:
    • A6NGA7
    • B4E044
    • Q5JPE1

    Protein attributes for TMEM138 Gene

    Size:
    162 amino acids
    Molecular mass:
    19262 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • TMEM138 and TMEM216 genes are adjacent and are aligned in a head-to-tail configuration. They share some cis regulatory region and display coordinated expression. Genes were joined by chromoaomal rearrangement at the amphiboan to reptile evolutionary transition around 340 million years ago (PubMed:22282472).
    SequenceCaution:
    • Sequence=CAI46174.1; Type=Frameshift; Positions=101; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM138 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM138 Gene

Proteomics data for TMEM138 Gene at MOPED

Post-translational modifications for TMEM138 Gene

Other Protein References for TMEM138 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM138 Gene

Domains for TMEM138 Gene

Protein Domains for TMEM138 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

TM138_HUMAN
Family:
  • Belongs to the TMEM138 family.:
    • Q9NPI0
genes like me logo Genes that share domains with TMEM138: view

No data available for Gene Families for TMEM138 Gene

Function for TMEM138 Gene

Molecular function for TMEM138 Gene

UniProtKB/Swiss-Prot Function: Required for ciliogenesis.

miRNA for TMEM138 Gene

miRTarBase miRNAs that target TMEM138

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for TMEM138 Gene

Localization for TMEM138 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM138 Gene

Vacuole membrane; Multi-pass membrane protein. Cell projection, cilium. Note=Localizes to vesicles en route to the base of cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM138 Gene COMPARTMENTS Subcellular localization image for TMEM138 gene
Compartment Confidence
vacuole 5
plasma membrane 3
cytoskeleton 1
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TMEM138 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005773 vacuole --
GO:0005774 vacuolar membrane IEA --
GO:0005929 cilium IDA 22282472
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM138: view

Pathways for TMEM138 Gene

SuperPathways for TMEM138 Gene

No Data Available

Interacting Proteins for TMEM138 Gene

Gene Ontology (GO) - Biological Process for TMEM138 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042384 cilium assembly IMP 22282472
genes like me logo Genes that share ontologies with TMEM138: view

No data available for Pathways by source for TMEM138 Gene

Transcripts for TMEM138 Gene

Unigene Clusters for TMEM138 Gene

Transmembrane protein 138:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM138 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - -
SP7: - - - -
SP8: - - - - - - - -
SP9: -
SP10: - - - -
SP11: - - - -

Relevant External Links for TMEM138 Gene

GeneLoc Exon Structure for
TMEM138
ECgene alternative splicing isoforms for
TMEM138

Expression for TMEM138 Gene

mRNA expression in normal human tissues for TMEM138 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for TMEM138 Gene

SOURCE GeneReport for Unigene cluster for TMEM138 Gene Hs.406530

genes like me logo Genes that share expressions with TMEM138: view

Orthologs for TMEM138 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM138 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM138 36
  • 99.59 (n)
  • 98.77 (a)
TMEM138 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM138 36
  • 92.39 (n)
  • 94.44 (a)
TMEM138 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM138 36
  • 92.59 (n)
  • 93.83 (a)
mouse
(Mus musculus)
Mammalia Tmem138 36
  • 89.71 (n)
  • 91.98 (a)
Tmem138 16
Tmem138 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM138 37
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM138 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem138 36
  • 88.48 (n)
  • 91.36 (a)
chicken
(Gallus gallus)
Aves TMEM138 36
  • 79.09 (n)
  • 83.23 (a)
TMEM138 37
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM138 37
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32386 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1473 36
tmem138 36
  • 69.77 (n)
  • 70.19 (a)
zebrafish
(Danio rerio)
Actinopterygii tmem138 36
  • 67.49 (n)
  • 67.9 (a)
tmem138 37
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010215 36
  • 49.51 (n)
  • 34.56 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG13999 36
  • 46.08 (n)
  • 30.15 (a)
CG13999 37
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F10B5.9 37
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2582 37
  • 41 (a)
OneToOne
Species with no ortholog for TMEM138:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMEM138 Gene

ENSEMBL:
Gene Tree for TMEM138 (if available)
TreeFam:
Gene Tree for TMEM138 (if available)

Paralogs for TMEM138 Gene

No data available for Paralogs for TMEM138 Gene

Variants for TMEM138 Gene

Sequence variations from dbSNP and Humsavar for TMEM138 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1037448 -- 61,367,060(+) GTTAT(C/T)CTTAG intron-variant
rs1037449 -- 61,367,164(+) CTGCC(A/G)AGCTC intron-variant
rs1281249 -- 61,365,686(+) atcat(A/G)ccact intron-variant
rs7932094 -- 61,365,272(+) ttttt(A/T)ttttt intron-variant
rs7937419 -- 61,367,657(+) AATGA(A/G)TATAT intron-variant, utr-variant-3-prime

Relevant External Links for TMEM138 Gene

HapMap Linkage Disequilibrium report
TMEM138
Human Gene Mutation Database (HGMD)
TMEM138

No data available for Structural Variations from Database of Genomic Variants (DGV) for TMEM138 Gene

Disorders for TMEM138 Gene

(1) OMIM Diseases for TMEM138 Gene (614459)

UniProtKB/Swiss-Prot

TM138_HUMAN
  • Joubert syndrome 16 (JBTS16) [MIM:614465]: An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and polydactyly. {ECO:0000269 PubMed:22282472}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with TMEM138: view

Publications for TMEM138 Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. (PMID: 22282472) Lee J.H. … Gleeson J.G. (Science 2012) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4
  5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 4

Products for TMEM138 Gene

Sources for TMEM138 Gene

Back to Top

Content