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

Gene ID: 219902, updated on 2-Nov-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, Nov 2024]
Expression
Broad expression in adrenal (RPKM 4.7), brain (RPKM 4.1) and 21 other tissues See more
Orthologs
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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 Variation Viewer (GRCh37.p13)

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

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