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Aliases for TMEM138 Gene

Aliases for TMEM138 Gene

  • Transmembrane Protein 138 2 3 5
  • HSPC196 3

External Ids for TMEM138 Gene

Previous GeneCards Identifiers for TMEM138 Gene

  • GC11P060887
  • GC11P061129
  • GC11P057458

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

Additional gene information for TMEM138 Gene

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

Genomics for TMEM138 Gene

Regulatory Elements for TMEM138 Gene

Enhancers for TMEM138 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H062041 1.4 ENCODE dbSUPER 54.6 +683.4 683427 8 PKNOX1 ARNT ZFP64 FEZF1 ZNF766 FOS SP3 ZC3H11A REST SREBF1 METTL12 CPSF7 SNHG1 GANAB LOC105369332 NXF1 TMEM138 TUT1 INTS5 MTA2
GH11H061960 1.8 FANTOM5 ENCODE dbSUPER 37.2 +606.9 606923 16 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D UBXN1 LOC105369332 WDR74 INTS5 MTA2 CPSF7 TMEM138 NXF1 EML3 STX5
GH11H061826 2 FANTOM5 Ensembl ENCODE dbSUPER 14.6 +470.4 470369 12 HDGF PKNOX1 ARNT ARID4B SIN3A YY1 ZNF766 ZNF143 SP3 SP5 FADS2 MTA2 FADS1 TMEM138 EML3 STX5 CPSF7 NXF1 GANAB TMEM179B
GH11H061355 1.6 Ensembl ENCODE dbSUPER 15.3 -2.1 -2126 8 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 CPSF7 TMEM138 PRPF19 TMEM216 ENSG00000279246
GH11H061428 1.3 ENCODE dbSUPER 16.2 +67.9 67930 3 PKNOX1 MLX ARID4B SIN3A YBX1 DMAP1 ZNF2 ZBTB7B YY1 ZNF207 CPSF7 TMEM216 VPS37C TMEM138 RN7SL23P TMEM109 DDB1 TKFC SDHAF2 ENSG00000256591
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM138 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM138 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040252 99 2601 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9

Genomic Location for TMEM138 Gene

Chromosome:
11
Start:
61,362,001 bp from pter
End:
61,376,502 bp from pter
Size:
14,502 bases
Orientation:
Plus strand

Genomic View for TMEM138 Gene

Genes around TMEM138 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM138 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM138 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 chromosomal 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

Post-translational modifications for TMEM138 Gene

  • Glycosylation at posLast=66
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMEM138 Gene

Domains & Families for TMEM138 Gene

Gene Families for TMEM138 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for TMEM138 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM138 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPI0

UniProtKB/Swiss-Prot:

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

Function for TMEM138 Gene

Molecular function for TMEM138 Gene

UniProtKB/Swiss-Prot Function:
Required for ciliogenesis.

Phenotypes From GWAS Catalog for TMEM138 Gene

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

Human Phenotype Ontology for TMEM138 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM138
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM138 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 2
extracellular 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMEM138 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005774 vacuolar membrane IEA --
GO:0005929 cilium IEA,IDA 22282472
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with TMEM138: view

Pathways & Interactions for TMEM138 Gene

SuperPathways for TMEM138 Gene

No Data Available

Interacting Proteins for TMEM138 Gene

Selected Interacting proteins: Q9NPI0-TM138_HUMAN for TMEM138 Gene via IID

Symbol External ID(s) Details
TMEM17

Gene Ontology (GO) - Biological Process for TMEM138 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly IMP 22282472
genes like me logo Genes that share ontologies with TMEM138: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM138 Gene

Drugs & Compounds for TMEM138 Gene

No Compound Related Data Available

Transcripts for TMEM138 Gene

Unigene Clusters for TMEM138 Gene

Transmembrane protein 138:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM138
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM138 Gene

Protein differential expression in normal tissues from HIPED for TMEM138 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM138 Gene



Protein tissue co-expression partners for TMEM138 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM138 Gene:

TMEM138

SOURCE GeneReport for Unigene cluster for TMEM138 Gene:

Hs.406530

Evidence on tissue expression from TISSUES for TMEM138 Gene

  • Lymph node(4.3)
  • Blood(4.1)
  • Nervous system(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM138 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • diaphragm
  • heart
  • heart valve
  • lung
Abdomen:
  • kidney
  • liver
Pelvis:
  • penis
  • ureter
  • urinary bladder
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with TMEM138: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TMEM138 Gene

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 33 34
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia TMEM138 33
  • 92.59 (n)
cow
(Bos Taurus)
Mammalia TMEM138 33 34
  • 92.39 (n)
mouse
(Mus musculus)
Mammalia Tmem138 33 16 34
  • 89.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM138 34
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem138 33
  • 88.48 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM138 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM138 33 34
  • 79.09 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM138 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem138 33
  • 69.77 (n)
Str.1473 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32386 33
zebrafish
(Danio rerio)
Actinopterygii tmem138 33 34
  • 67.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010215 33
  • 49.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13999 33 34
  • 46.08 (n)
worm
(Caenorhabditis elegans)
Secernentea F10B5.9 34
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2582 34
  • 41 (a)
OneToOne
Species where no ortholog for TMEM138 was found in the sources mined by GeneCards:
  • 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
rs387907132 Pathogenic, Joubert syndrome 16 (JBTS16) [MIM:614465] 61,366,203(+) CCTTC(A/G)TGTCT nc-transcript-variant, reference, missense
rs387907133 Pathogenic, Joubert syndrome 16 (JBTS16) [MIM:614465] 61,368,600(+) AGCAG(C/T)AGTGT intron-variant, nc-transcript-variant, reference, missense, utr-variant-3-prime
rs387907134 Pathogenic, Joubert syndrome 16 (JBTS16) [MIM:614465] 61,367,998(+) GACTA(A/G)GTAAG intron-variant, nc-transcript-variant, reference, missense
rs387907135 Pathogenic, Joubert syndrome 16 (JBTS16) [MIM:614465] 61,368,609(+) GTTGT(A/G)CTGCT intron-variant, nc-transcript-variant, reference, missense, utr-variant-3-prime
rs886039804 Likely pathogenic 61,366,050(+) CATCC(A/G)GGATA nc-transcript-variant, reference, missense, utr-variant-5-prime

Variation tolerance for TMEM138 Gene

Residual Variation Intolerance Score: 55.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM138 Gene

Human Gene Mutation Database (HGMD)
TMEM138
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM138

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TMEM138 Gene

Disorders for TMEM138 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TMEM138 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 16
  • jbts16
tmem138-related joubert syndrome
  • joubert syndrome 16
joubert syndrome with oculorenal anomalies
  • joubert syndrome 5
orofaciodigital syndrome vi
  • joubert syndrome with orofaciodigital defect
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for TMEM138

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM138
genes like me logo Genes that share disorders with TMEM138: view

No data available for Genatlas for TMEM138 Gene

Publications for TMEM138 Gene

  1. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. (PMID: 22282472) Lee JH … Gleeson JG (Science (New York, N.Y.) 2012) 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. 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 QH … Chen Z (Genome research 2000) 3 4 60
  4. Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome. (PMID: 28102635) Bizzari S … Bastaki F (Pediatrics international : official journal of the Japan Pediatric Society 2017) 3 60
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 60

Products for TMEM138 Gene

Sources for TMEM138 Gene

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