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HEXIM2 HEXIM P-TEFb complex subunit 2 [ Homo sapiens (human) ]

Gene ID: 124790, updated on 3-Oct-2020

Summary

Official Symbol
HEXIM2provided by HGNC
Official Full Name
HEXIM P-TEFb complex subunit 2provided by HGNC
Primary source
HGNC:HGNC:28591
See related
Ensembl:ENSG00000168517 MIM:615695
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
L3
Summary
This gene encodes a member of the HEXIM family of proteins. This protein is a component of the 7SK small nuclear ribonucleoprotein. This protein has been found to negatively regulate the kinase activity of the cyclin-dependent kinase P-TEFb, which phosphorylates multiple target proteins to promote transcriptional elongation. This gene is located approximately 7 kb downstream from related family member HEXIM1 on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Expression
Broad expression in testis (RPKM 8.0), kidney (RPKM 3.7) and 25 other tissues See more
Orthologs

Genomic context

See HEXIM2 in Genome Data Viewer
Location:
17q21.31
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (45159948..45170040)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (43237502..43247406)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA binding domain containing 4 Neighboring gene HEXIM P-TEFb complex subunit 1 Neighboring gene uncharacterized LOC112268203 Neighboring gene uncharacterized LOC105371795 Neighboring gene uncharacterized LOC339192 Neighboring gene formin like 1 Neighboring gene uncharacterized LOC107985040

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies eight loci associated with blood pressure.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat A La-related protein, LARP7, is associated with P-TEFb, HEXIM1/2, MEPCE, and 7SK RNA in a large stable complex form. Knockdown of LARP7 decreases the steady-state level of 7SK, but increases free P-TEFb and enhances Tat-mediated transcription PubMed
tat HIV-1 Tat transactivation is effectively inhibited by co-expression of HEXIM1 or its paralog HEXIM2; HEXIM1 expression specifically represses transcription mediated by the direct activation of P-TEFb through the recruitment of CycT1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32384, FLJ39466

Gene Ontology Provided by GOA

Function Evidence Code Pubs
7SK snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
7SK snRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
cyclin-dependent protein serine/threonine kinase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cyclin-dependent protein serine/threonine kinase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
snRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
protein HEXIM2
Names
MAQ1 paralog
hexamethylene bis-acetamide inducible 2
hexamethylene bis-acetamide-inducible protein 2
hexamethylene bisacetamide inducible 2
hexamethylene-bis-acetamide-inducible transcript 2

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_001303436.1NP_001290365.1  protein HEXIM2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) uses an alternate splice site in the 5' terminal exon and initiates translation at an upstream start codon, compared to variant 1. This results in a protein (isoform 2) with a longer N-terminus compared to variant 1.
    Source sequence(s)
    AK056946, AW340131, BP398345, BU501076, CA312679
    UniProtKB/Swiss-Prot
    Q96MH2
    Conserved Domains (2) summary
    pfam15313
    Location:126246
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:236291
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  2. NM_001303437.1NP_001290366.1  protein HEXIM2 isoform 1

    See identical proteins and their annotated locations for NP_001290366.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-9 encode the same isoform (1).
    Source sequence(s)
    AK056946, AW340131, BP209696, BP398345, CA312679, DB160394, HY007091
    Consensus CDS
    CCDS11496.1
    UniProtKB/Swiss-Prot
    Q96MH2
    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  3. NM_001303438.1NP_001290367.1  protein HEXIM2 isoform 1

    See identical proteins and their annotated locations for NP_001290367.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-9 encode the same isoform (1).
    Source sequence(s)
    AK056946, AW340131, BP209696, BP398345, CA312679, DB160394
    Consensus CDS
    CCDS11496.1
    UniProtKB/Swiss-Prot
    Q96MH2
    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  4. NM_001303439.1NP_001290368.1  protein HEXIM2 isoform 1

    See identical proteins and their annotated locations for NP_001290368.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the shorter isoform (1). Variants 1-9 encode the same isoform (1).
    Source sequence(s)
    AK056946, AW340131, BI829228, BP398345, CA312679, DB160394
    Consensus CDS
    CCDS11496.1
    UniProtKB/Swiss-Prot
    Q96MH2
    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  5. NM_001303440.2NP_001290369.1  protein HEXIM2 isoform 1

    See identical proteins and their annotated locations for NP_001290369.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-9 encode the same isoform (1).
    Source sequence(s)
    BC003531, BI829844
    Consensus CDS
    CCDS11496.1
    UniProtKB/Swiss-Prot
    Q96MH2
    Related
    ENSP00000467517.1, ENST00000592695.1
    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  6. NM_001303441.2NP_001290370.1  protein HEXIM2 isoform 1

    See identical proteins and their annotated locations for NP_001290370.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1-9 encode the same isoform (1).
    Source sequence(s)
    AA223138, AK056946, BI829844
    Consensus CDS
    CCDS11496.1
    UniProtKB/Swiss-Prot
    Q96MH2
    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  7. NM_001303442.2NP_001290371.1  protein HEXIM2 isoform 1

    See identical proteins and their annotated locations for NP_001290371.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1-9 encode the same isoform (1).
    Source sequence(s)
    BC025970, BI829844, CN425800
    Consensus CDS
    CCDS11496.1
    UniProtKB/Swiss-Prot
    Q96MH2
    Related
    ENSP00000465727.1, ENST00000591576.5
    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  8. NM_001303443.2NP_001290372.1  protein HEXIM2 isoform 1

    See identical proteins and their annotated locations for NP_001290372.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. Variants 1-9 encode the same isoform (1).
    Source sequence(s)
    AK056946, BI829844, CN425800
    Consensus CDS
    CCDS11496.1
    UniProtKB/Swiss-Prot
    Q96MH2
    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  9. NM_001303444.2NP_001290373.1  protein HEXIM2 isoform 1

    See identical proteins and their annotated locations for NP_001290373.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-9 encode the same isoform (1).
    Source sequence(s)
    AK056946, BG696988, BI829844, CN425800
    Consensus CDS
    CCDS11496.1
    UniProtKB/Swiss-Prot
    Q96MH2
    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  10. NM_144608.2NP_653209.1  protein HEXIM2 isoform 1

    See identical proteins and their annotated locations for NP_653209.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-9 encode the same isoform (1).
    Source sequence(s)
    AK056946, AW340131, BP398345, BU501076, CA312679
    Consensus CDS
    CCDS11496.1
    UniProtKB/Swiss-Prot
    Q96MH2
    Related
    ENSP00000302276.2, ENST00000307275.7
    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    45159948..45170040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721687.4XP_006721750.1  protein HEXIM2 isoform X1

    Conserved Domains (2) summary
    pfam15313
    Location:127247
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:237292
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  2. XM_017024170.2XP_016879659.1  protein HEXIM2 isoform X2

    UniProtKB/Swiss-Prot
    Q96MH2
    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  3. XM_017024167.2XP_016879656.1  protein HEXIM2 isoform X2

    UniProtKB/Swiss-Prot
    Q96MH2
    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  4. XM_024450566.1XP_024306334.1  protein HEXIM2 isoform X2

    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  5. XM_024450568.1XP_024306336.1  protein HEXIM2 isoform X2

    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  6. XM_024450567.1XP_024306335.1  protein HEXIM2 isoform X2

    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  7. XM_011524308.3XP_011522610.3  protein HEXIM2 isoform X2

    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  8. XM_011524307.3XP_011522609.3  protein HEXIM2 isoform X2

    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  9. XM_011524306.2XP_011522608.1  protein HEXIM2 isoform X2

    See identical proteins and their annotated locations for XP_011522608.1

    UniProtKB/Swiss-Prot
    Q96MH2
    Conserved Domains (2) summary
    pfam15313
    Location:102227
    HEXIM; Hexamethylene bis-acetamide-inducible protein
    pfam16559
    Location:214269
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
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