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

Gene ID: 9819, updated on 17-May-2020

Summary

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
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
Expression
Ubiquitous expression in bone marrow (RPKM 8.5), gall bladder (RPKM 7.8) and 25 other tissues See more
Orthologs

Genomic context

See TSC22D2 in Genome Data Viewer
Location:
3q25.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (150408298..150466422)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (150126101..150177906)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986141 Neighboring gene uncharacterized LOC107986142 Neighboring gene Sharpr-MPRA regulatory region 6181 Neighboring gene stress associated endoplasmic reticulum protein 1 Neighboring gene eukaryotic translation initiation factor 2A

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI 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.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0669

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
Process Evidence Code Pubs
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
response to osmotic stress IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001303264.2NP_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
    UniProtKB/Swiss-Prot
    O75157
    UniProtKB/TrEMBL
    B4DN36
    Conserved Domains (1) summary
    pfam01166
    Location:670726
    TSC22; TSC-22/dip/bun family
  2. NM_014779.4NP_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
    O75157
    Related
    ENSP00000354543.2, ENST00000361875.7
    Conserved Domains (1) summary
    pfam01166
    Location:694750
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011513337.3XP_011511639.1  TSC22 domain family protein 2 isoform X1

    Conserved Domains (1) summary
    PHA03247
    Location:138642
    PHA03247; large tegument protein UL36; Provisional

RNA

  1. XR_001740388.2 RNA Sequence

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