U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TSC22D2 TSC22 domain family member 2 [ Homo sapiens (human) ]

Gene ID: 9819, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
TSC22D2provided by HGNC
Official Full Name
TSC22 domain family member 2provided by HGNC
Primary source
HGNC:HGNC:29095
See related
Ensembl:ENSG00000196428 MIM:617724; AllianceGenome:HGNC:29095
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
TILZ4a; TILZ4b; TILZ4c
Summary
Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within response to osmotic stress. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 8.5), gall bladder (RPKM 7.8) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
3q25.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (150408298..150466422)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (153159594..153217686)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (150126085..150184209)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374154 Neighboring gene long intergenic non-protein coding RNA 1214 Neighboring gene uncharacterized LOC107986141 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:150025558-150026757 Neighboring gene uncharacterized LOC107986142 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:150087822-150088690 Neighboring gene Sharpr-MPRA regulatory region 6181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20684 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14815 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:150127902-150128781 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65259 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:150187015-150187515 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:150232752-150232908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150237884-150238384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150238385-150238885 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:150252356-150252475 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:150263870-150265069 Neighboring gene uncharacterized LOC124900547 Neighboring gene stress associated endoplasmic reticulum protein 1 Neighboring gene eukaryotic translation initiation factor 2A

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: 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

Go to the top of the pageHelp

Related articles in PubMed

  1. TSC22D2 identified as a candidate susceptibility gene of multi-cancer pedigree using genome-wide linkage analysis and whole-exome sequencing. Xiao L, et al. Carcinogenesis, 2019 Jul 20. PMID 31125406
  2. TSC22D2 interacts with PKM2 and inhibits cell growth in colorectal cancer. Liang F, et al. Int J Oncol, 2016 Sep. PMID 27573352
  3. Madm (Mlf1 adapter molecule) cooperates with Bunched A to promote growth in Drosophila. Gluderer S, et al. J Biol, 2010. PMID 20149264, Free PMC Article
  4. Proteomic analysis of ubiquitin ligase KEAP1 reveals associated proteins that inhibit NRF2 ubiquitination. Hast BE, et al. Cancer Res, 2013 Apr 1. PMID 23382044, Free PMC Article
  5. NRBP1-Containing CRL2/CRL4A Regulates Amyloid β Production by Targeting BRI2 and BRI3 for Degradation. Yasukawa T, et al. Cell Rep, 2020 Mar 10. PMID 32160551

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genome-wide linkage analysis and whole-exome sequencing in a rare, large multi-cancer pedigree recently found in China identified a novel mutant of transforming growth factor beta stimulated clone 22 domain family, member 2 (TSC22D2, c.-91T-C) cosegregated with the cancer phenotype. Study found that histone H4 transcription factor (HINFP) binds to the promoter region of TSC22D2 and may regulate its transcription.
    Title: TSC22D2 identified as a candidate susceptibility gene of multi-cancer pedigree using genome-wide linkage analysis and whole-exome sequencing.
  2. Results found TSC22D2 significantly downregulated in colorectal cancer (CRC). Its overexpression can inhibit CRC cell growth. Also, TSC22D2 physically associates with PKM2, and demonstrated that TSC22D2 overexpression reduces nuclear PKM2 levels and represses the expression of cyclin D1.
    Title: TSC22D2 interacts with PKM2 and inhibits cell growth in colorectal cancer.
  3. TSC22D2 protein might be a member of the PRMT5 complex via direct binding of WDR77.
    Title: Yeast two-hybrid screening identified WDR77 as a novel interacting partner of TSC22D2.
  4. Long form of TSC22DF is evolutionarily conserved and has growth-regulating potential.
    Title: Madm (Mlf1 adapter molecule) cooperates with Bunched A to promote growth in Drosophila.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • KIAA0669

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in response to osmotic stress IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
TSC22 domain family protein 2
Names
TSC22 domain family 2
TSC22-related-inducible leucine zipper protein 4

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001303264.2 → NP_001290193.1  TSC22 domain family protein 2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AA040291, AB014569, AC018545, AK297748, BC044643, BU736250
    Consensus CDS
    CCDS93406.1
    UniProtKB/Swiss-Prot
    O75157
    UniProtKB/TrEMBL
    B4DN36
    Related
    ENSP00000510392.1, ENST00000688009.1
    Conserved Domains (1) summary
    pfam01166
    Location:670 → 726
    TSC22; TSC-22/dip/bun family

  2. NM_014779.4 → NP_055594.1  TSC22 domain family protein 2 isoform 1

    See identical proteins and their annotated locations for NP_055594.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AA040291, AB014569, AC018545, BC044643, BU736250
    Consensus CDS
    CCDS3149.1
    UniProtKB/Swiss-Prot
    D3DNI5, O75157, Q6PI50, Q9H2Z6, Q9H2Z7, Q9H2Z8
    Related
    ENSP00000354543.2, ENST00000361875.8
    Conserved Domains (1) summary
    pfam01166
    Location:694 → 750
    TSC22; TSC-22/dip/bun family

RNA

  1. NR_130136.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA040291, AB014569, AC018545, AF201292, BC044643, BU736250

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    150408298..150466422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513337.4 → XP_011511639.1  TSC22 domain family protein 2 isoform X1

    Conserved Domains (1) summary
    PHA03247
    Location:138 → 642
    PHA03247; large tegument protein UL36; Provisional

RNA

  1. XR_007095779.1 RNA Sequence

  2. XR_007095780.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    153159594..153217686
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348584.1 → XP_054204559.1  TSC22 domain family protein 2 isoform X1

RNA

  1. XR_008486869.1 RNA Sequence

  2. XR_008486870.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75157.3 GenPept UniProtKB/Swiss-Prot:O75157

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous