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    TMEM138 transmembrane protein 138 [ Homo sapiens (human) ]

    Gene ID: 51524, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM138provided by HGNC
    Official Full Name
    transmembrane protein 138provided by HGNC
    Primary source
    HGNC:HGNC:26944
    See related
    Ensembl:ENSG00000149483 MIM:614459; AllianceGenome:HGNC:26944
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSPC196
    Summary
    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]
    Expression
    Ubiquitous expression in adrenal (RPKM 10.4), lymph node (RPKM 5.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM138 in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61362374..61376870)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61350982..61369065)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61129846..61144342)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:61067594-61068793 Neighboring gene damage specific DNA binding protein 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61100139-61100661 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61100662-61101184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61112523-61113449 Neighboring gene triokinase and FMN cyclase Neighboring gene cytochrome b561 family member A3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4795 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61129243-61129964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61159824-61160785 Neighboring gene transmembrane protein 216 Neighboring gene cleavage and polyadenylation specific factor 7 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61196662-61197310 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:61197385-61197720

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Tmem138 is localized to the connecting cilium essential for rhodopsin localization and outer segment biogenesis. Guo D, et al. Proc Natl Acad Sci U S A, 2022 Apr 12. PMID 35394880, Free PMC Article
    2. Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome. Bizzari S, et al. Pediatr Int, 2017 Jan. PMID 28102635
    3. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Lee JH, et al. Science, 2012 Feb 24. PMID 22282472, Free PMC Article
    4. Basal vertebrates clarify the evolutionary history of ciliopathy-associated genes Tmem138 and Tmem216. Venkatesh B, et al. Mol Biol Evol, 2013 Jan. PMID 22936720, Free PMC Article
    5. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. Li C, et al. PLoS Biol, 2016 Mar. PMID 26982032, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tmem138 is localized to the connecting cilium essential for rhodopsin localization and outer segment biogenesis.
      Title: Tmem138 is localized to the connecting cilium essential for rhodopsin localization and outer segment biogenesis.
    2. Here we present clinical and molecular characterization of the case of an Emirati boy with Joubert syndrome, probably resulting from a splice-site mutation in TMEM138
      Title: Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.
    3. study reports that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable ciliopathy, Joubert syndrome; expression of the genes is mediated by a conserved regulatory element in the noncoding intergenic region
      Title: Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Familial aplasia of the vermis
    MedGen: C0431399 GeneReviews: Joubert Syndrome
    		Compare labs
    Joubert syndrome 16
    MedGen: C3280906 OMIM: 614465 GeneReviews: Joubert Syndrome
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in vacuolar membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 138

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032581.2 RefSeqGene

      Range
      5002..12137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330281.2 → NP_001317210.1  transmembrane protein 138 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AI097052, AP003108, BI907037, CB158071
      Consensus CDS
      CCDS81569.1
      UniProtKB/TrEMBL
      J3QSZ6
      Related
      ENSP00000371206.2, ENST00000381787.2
      Conserved Domains (1) summary
      pfam14935
      Location:1 → 98
      TMEM138; Transmembrane protein 138

    2. NM_001410997.1 → NP_001397926.1  transmembrane protein 138 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP003108
      Consensus CDS
      CCDS91482.1
      UniProtKB/TrEMBL
      A0A8I5KS61
      Related
      ENSP00000508581.1, ENST00000451389.7

    3. NM_001410998.1 → NP_001397927.1  transmembrane protein 138 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP003108
      Consensus CDS
      CCDS91483.1
      UniProtKB/TrEMBL
      A0A8I5QKQ3
      Related
      ENSP00000509146.1, ENST00000691720.1

    4. NM_001410999.1 → NP_001397928.1  transmembrane protein 138 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AP003108
      Consensus CDS
      CCDS91484.1
      Related
      ENSP00000509310.1, ENST00000692785.1

    5. NM_016464.5 → NP_057548.1  transmembrane protein 138 isoform 1

      See identical proteins and their annotated locations for NP_057548.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AF151030, AI097052, AI768672, AP003108, BI907037
      Consensus CDS
      CCDS8005.1
      UniProtKB/Swiss-Prot
      A6NGA7, B4E044, Q5JPE1, Q9NPI0
      Related
      ENSP00000278826.5, ENST00000278826.11
      Conserved Domains (1) summary
      pfam14935
      Location:38 → 156
      TMEM138; Transmembrane protein 138

    RNA

    1. NR_028473.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment of an internal exon, compared to variant 1. This variant is represented as non-coding because there is uncertainty about its protein-coding capacity; it lacks the translational start codon, as found in variant 1, and the presence of multiple upstream ORFs may inhibit translation initiation from a downstream start codon.
      Source sequence(s)
      AI097052, AI768672, AP003108, CB956757

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      61362374..61376870
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545098.3 → XP_011543400.1  transmembrane protein 138 isoform X2

      Conserved Domains (1) summary
      pfam14935
      Location:38 → 127
      TMEM138; Transmembrane protein 138

    2. XM_017017917.2 → XP_016873406.1  transmembrane protein 138 isoform X3

    3. XM_006718586.3 → XP_006718649.1  transmembrane protein 138 isoform X1

      Conserved Domains (1) summary
      pfam14935
      Location:38 → 155
      TMEM138; Transmembrane protein 138

    RNA

    1. XR_007062486.1 RNA Sequence

    2. XR_949965.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      61350982..61369065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369117.1 → XP_054225092.1  transmembrane protein 138 isoform X2

    2. XM_054369118.1 → XP_054225093.1  transmembrane protein 138 isoform X3

    3. XM_054369115.1 → XP_054225090.1  transmembrane protein 138 isoform X1

    4. XM_054369116.1 → XP_054225091.1  transmembrane protein 138 isoform X4

      UniProtKB/TrEMBL
      A0A8I5KXM0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPI0.1 GenPept UniProtKB/Swiss-Prot:Q9NPI0

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