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TLCD2 TLC domain containing 2 [ Homo sapiens (human) ]

Gene ID: 727910, updated on 4-Jan-2025

Summary

Official Symbol
TLCD2provided by HGNC
Official Full Name
TLC domain containing 2provided by HGNC
Primary source
HGNC:HGNC:33522
See related
Ensembl:ENSG00000185561 MIM:620967; AllianceGenome:HGNC:33522
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
Summary
Involved in several processes, including membrane assembly; phospholipid homeostasis; and regulation of membrane lipid distribution. Located in plasma membrane. [provided by Alliance of Genome Resources, Jan 2025]
Expression
Broad expression in fat (RPKM 9.2), colon (RPKM 5.9) and 17 other tissues See more
Orthologs
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Genomic context

See TLCD2 in Genome Data Viewer
Location:
17p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (1702816..1710377, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1591740..1599302, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1606110..1613671, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1554397-1554907 Neighboring gene Rab interacting lysosomal protein Neighboring gene pre-mRNA processing factor 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1593390-1593890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1593891-1594391 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1619651-1620292 Neighboring gene MIR22 host gene Neighboring gene microRNA 22 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1627561-1628061 Neighboring gene WD repeat domain 81 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1638655-1639172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1639173-1639688 Neighboring gene Sharpr-MPRA regulatory region 4635

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in membrane assembly  
involved_in membrane assembly PubMed 
involved_in phospholipid homeostasis  
involved_in phospholipid homeostasis PubMed 
involved_in plasma membrane organization  
involved_in plasma membrane organization PubMed 
involved_in regulation of membrane lipid distribution  
involved_in regulation of membrane lipid distribution PubMed 
Component Evidence Code Pubs
is_active_in plasma membrane  
located_in plasma membrane PubMed 

General protein information

Preferred Names
TLC domain-containing protein 2

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_001164407.2NP_001157879.1  TLC domain-containing protein 2

    See identical proteins and their annotated locations for NP_001157879.1

    Status: VALIDATED

    Source sequence(s)
    AC130343
    Consensus CDS
    CCDS45567.1
    UniProtKB/Swiss-Prot
    A6NGC4
    Related
    ENSP00000331965.6, ENST00000330676.8
    Conserved Domains (1) summary
    smart00724
    Location:34223
    TLC; TRAM, LAG1 and CLN8 homology domains

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    1702816..1710377 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187611.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    132844..140405 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    1591740..1599302 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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