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

    Gene ID: 9819, updated on 10-Dec-2024

    Summary

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    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
    Involved in negative regulation of cell cycle. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 8.5), gall bladder (RPKM 7.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TSC22D2 in Genome Data Viewer
    Location:
    3q25.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (150408298..150466422)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (153159594..153217686)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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

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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

    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    Preferred Names
    TSC22 domain family protein 2
    Names
    TSC22 domain family 2
    TSC22-related-inducible leucine zipper protein 4

    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_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_2024_08

    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.

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