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    TLCD5 TLC domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 219902, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TLCD5provided by HGNC
    Official Full Name
    TLC domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:28280
    See related
    Ensembl:ENSG00000181264 AllianceGenome:HGNC:28280
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TMEM136
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in adrenal (RPKM 4.7), brain (RPKM 4.1) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TLCD5 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (120325299..120333686)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (120348101..120357433)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (120196008..120204395)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:120119877-120120516 Neighboring gene Sharpr-MPRA regulatory region 564 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120135803-120135974 Neighboring gene uncharacterized LOC105369531 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120146894-120147083 Neighboring gene uncharacterized LOC649133 Neighboring gene POU class 2 homeobox 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120176405-120176922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120177487-120177989 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_19560 and experimental_19565 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120184592 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120193421-120193580 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120195689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3991 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120224214-120224428 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120249395 Neighboring gene Rho guanine nucleotide exchange factor 12 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120288060 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120305787 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120306759 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120313899 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120345004 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120350393 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120356317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3993 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:120386966-120387568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:120387569-120388170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120402421-120402957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120418648-120419393 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:120435257-120435837 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:120435838-120436417 Neighboring gene uncharacterized LOC107984400 Neighboring gene glutamate ionotropic receptor kainate type subunit 4

    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. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Aung T, et al. Nat Genet, 2017 Jul. PMID 28553957, Free PMC Article
    2. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC17839

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    TLC domain-containing protein 5
    Names
    transmembrane protein 136

    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.

    mRNA and Protein(s)

    1. NM_001198670.2 → NP_001185599.1  TLC domain-containing protein 5 isoform a

      See identical proteins and their annotated locations for NP_001185599.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK128040, AP001150, BC015232
      Consensus CDS
      CCDS55792.1
      UniProtKB/Swiss-Prot
      Q6ZRR5
      Related
      ENSP00000312672.2, ENST00000314475.6
      Conserved Domains (1) summary
      smart00724
      Location:51 → 244
      TLC; TRAM, LAG1 and CLN8 homology domains

    2. NM_001198671.2 → NP_001185600.1  TLC domain-containing protein 5 isoform c

      See identical proteins and their annotated locations for NP_001185600.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AP001150, DA097438
      Consensus CDS
      CCDS55793.1
      UniProtKB/Swiss-Prot
      B4DGQ4, B4E230, Q6ZRR5, Q8IZ79
      Related
      ENSP00000364236.3, ENST00000375095.3
      Conserved Domains (1) summary
      smart00724
      Location:29 → 222
      TLC; TRAM, LAG1 and CLN8 homology domains

    3. NM_001198672.2 → NP_001185601.1  TLC domain-containing protein 5 isoform d

      See identical proteins and their annotated locations for NP_001185601.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 7 all encode the same isoform (d).
      Source sequence(s)
      AK128040, AK289680, AP001150
      UniProtKB/TrEMBL
      A8K0W5
      Conserved Domains (1) summary
      cl02759
      Location:1 → 121
      TRAM_LAG1_CLN8; TLC domain

    4. NM_001198673.2 → NP_001185602.1  TLC domain-containing protein 5 isoform d

      See identical proteins and their annotated locations for NP_001185602.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 7 all encode the same isoform (d).
      Source sequence(s)
      AP001150, DA331965
      UniProtKB/TrEMBL
      A8K0W5
      Conserved Domains (1) summary
      cl02759
      Location:1 → 121
      TRAM_LAG1_CLN8; TLC domain

    5. NM_001198674.2 → NP_001185603.1  TLC domain-containing protein 5 isoform e

      See identical proteins and their annotated locations for NP_001185603.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice junction at the 5' end of an exon and lacks an alternate in-frame segment compared to variant 1. The resulting isoform (e) is shorter at the N-terminus and lacks an internal segment compared to isoform a.
      Source sequence(s)
      AK128040, AK294713, AP001150
      UniProtKB/Swiss-Prot
      Q6ZRR5
      Conserved Domains (1) summary
      cl02759
      Location:29 → 95
      TRAM_LAG1_CLN8; TLC domain

    6. NM_001198675.2 → NP_001185604.1  TLC domain-containing protein 5 isoform d

      See identical proteins and their annotated locations for NP_001185604.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks an alternate exon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 7 all encode the same isoform (d).
      Source sequence(s)
      AK128040, AP001150
      UniProtKB/TrEMBL
      A8K0W5
      Related
      ENST00000531346.1
      Conserved Domains (1) summary
      cl02759
      Location:1 → 121
      TRAM_LAG1_CLN8; TLC domain

    7. NM_174926.3 → NP_777586.1  TLC domain-containing protein 5 isoform b

      See identical proteins and their annotated locations for NP_777586.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AK128040, AP001150, BC015232
      Consensus CDS
      CCDS8432.1
      UniProtKB/Swiss-Prot
      Q6ZRR5
      Related
      ENSP00000434862.1, ENST00000529187.1
      Conserved Domains (1) summary
      cl02759
      Location:51 → 117
      TRAM_LAG1_CLN8; TLC domain

    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
      120325299..120333686
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      120348101..120357433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZRR5.2 GenPept UniProtKB/Swiss-Prot:Q6ZRR5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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