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TMEM138 transmembrane protein 138 [ Homo sapiens (human) ]

Gene ID: 51524, updated on 2-Nov-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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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 (15) 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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