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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 Joubert Syndrome With Oculorenal Anomalies.

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

GeneHancer (GH) Regulatory Elements for TMEM138 Gene

Promoters and enhancers for TMEM138 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I061355 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 577.1 -2.1 -2125 8.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 TMEM138 CYB561A3 CPSF7 PRPF19 TMEM216 RN7SL23P SDHAF2 VPS37C TMEM109 ENSG00000279246
GH11I061960 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 48.9 +606.9 606923 16.4 CLOCK MLX ZFP64 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 FTH1 GC11M061968 GC11M061969 GC11M061970 LOC399900 NXF1 INTS5 LOC105369332 CPSF7 UBXN1
GH11I061791 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 37.3 +430.7 430724 3.1 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B FADS2 FEN1 MIR611 TMEM258 CPSF7 CSKMT GANAB TMEM138 EML3 TUT1
GH11I062041 Enhancer 1.3 ENCODE dbSUPER 54.2 +683.4 683427 8.1 PKNOX1 SMAD1 ARNT ZFP64 FEZF1 ZNF766 ZNF213 E2F8 FOS SP3 CSKMT CPSF7 SNHG1 GANAB NXF1 LOC105369332 TMEM138 TUT1 MTA2 INTS5
GH11I062123 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 26.3 +762.7 762711 3 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 E2F8 ZNF143 FOS INCENP NXF1 LOC105369332 CPSF7 MTA2 CSKMT STX5 UBXN1 TMEM138 INTS5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM138 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM138 gene promoter:

Genomic Locations for TMEM138 Gene

Genomic Locations for TMEM138 Gene
chr11:61,362,001-61,376,502
(GRCh38/hg38)
Size:
14,502 bases
Orientation:
Plus strand
chr11:61,129,473-61,136,981
(GRCh37/hg19)

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

miRNA for TMEM138 Gene

miRTarBase miRNAs that target TMEM138

Clone Products

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:

Clone Products

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
Regions:
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

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 Variation AA Info Type
rs1001504185 uncertain-significance, Joubert syndrome 61,362,396(+) T/C 5_prime_UTR_variant, non_coding_transcript_variant
rs112115349 uncertain-significance, Joubert syndrome 61,362,305(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs116455434 uncertain-significance, benign, Joubert syndrome, not specified 61,364,367(+) G/A/T 5_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs146156958 uncertain-significance, Joubert syndrome 61,362,321(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs192845534 uncertain-significance, Joubert syndrome 61,362,081(+) A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant

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)

Additional Variant Information 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

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

- 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.

Additional Disease Information for 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  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 58
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 58

Products for TMEM138 Gene

Sources for TMEM138 Gene

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