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HMGA2

GENERAL INFORMATION

Gene name

 HMGA2

Gene description

 High mobility group AT-hook 2

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Tissue enhanced (testis)
FANTOM5:Tissue enhanced (testis)

Protein evidence

 Evidence at protein level

Protein expression

 Nuclear expression in most tissues.

DATA RELIABILITY

Data reliability
description

 External characterization data and paired antibodies with high similarity supports the antibody staining pattern.

Reliability score

 Approved based on 2 antibodies.
HPA039076 , CAB017809
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)

GENE INFORMATION

Gene name

 HMGA2 (HGNC Symbol)

Synonyms

 BABL, HMGIC, LIPO

Description

 High mobility group AT-hook 2 (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Chromosome

 12

Cytoband

 q14.3

Chromosome location (bp)

 65824131 - 65966295

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000149948 (version 83.38)

Entrez gene

 8091

UniProt

 P52926 (UniProt - Evidence at protein level)

neXtProt

 NX_P52926

Antibodypedia

 HMGA2 antibodies

PROTEIN BROWSER
HMGA2-001
HMGA2-003
HMGA2-005
HMGA2-006
HMGA2-008
HMGA2-011
HMGA2-013

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
HMGA2-001
ENSP00000384026
ENST00000403681
P52926 [Direct mapping]
High mobility group protein HMGI-C
Show all
Predicted intracellular proteins
Plasma proteins
Transcription factors
   beta-Sheet binding to DNA
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000228 [nuclear chromosome]
GO:0000975 [regulatory region DNA binding]
GO:0000989 [transcription factor activity, transcription factor binding]
GO:0001047 [core promoter binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001837 [epithelial to mesenchymal transition]
GO:0002062 [chondrocyte differentiation]
GO:0003131 [mesodermal-endodermal cell signaling]
GO:0003677 [DNA binding]
GO:0003680 [AT DNA binding]
GO:0003906 [DNA-(apurinic or apyrimidinic site) lyase activity]
GO:0004677 [DNA-dependent protein kinase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006284 [base-excision repair]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007067 [mitotic nuclear division]
GO:0007095 [mitotic G2 DNA damage checkpoint]
GO:0007275 [multicellular organismal development]
GO:0008134 [transcription factor binding]
GO:0008301 [DNA binding, bending]
GO:0009615 [response to virus]
GO:0010564 [regulation of cell cycle process]
GO:0010628 [positive regulation of gene expression]
GO:0030261 [chromosome condensation]
GO:0031052 [chromosome breakage]
GO:0031492 [nucleosomal DNA binding]
GO:0031507 [heterochromatin assembly]
GO:0032993 [protein-DNA complex]
GO:0035497 [cAMP response element binding]
GO:0035500 [MH2 domain binding]
GO:0035501 [MH1 domain binding]
GO:0035978 [histone H2A-S139 phosphorylation]
GO:0035985 [senescence-associated heterochromatin focus]
GO:0035986 [senescence-associated heterochromatin focus assembly]
GO:0035987 [endodermal cell differentiation]
GO:0035988 [chondrocyte proliferation]
GO:0040008 [regulation of growth]
GO:0042769 [DNA damage response, detection of DNA damage]
GO:0043065 [positive regulation of apoptotic process]
GO:0043066 [negative regulation of apoptotic process]
GO:0043392 [negative regulation of DNA binding]
GO:0043922 [negative regulation by host of viral transcription]
GO:0045444 [fat cell differentiation]
GO:0045869 [negative regulation of single stranded viral RNA replication via double stranded DNA intermediate]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046332 [SMAD binding]
GO:0048333 [mesodermal cell differentiation]
GO:0048762 [mesenchymal cell differentiation]
GO:0048863 [stem cell differentiation]
GO:0051301 [cell division]
GO:0051575 [5'-deoxyribose-5-phosphate lyase activity]
GO:0070742 [C2H2 zinc finger domain binding]
GO:0071141 [SMAD protein complex]
GO:0071158 [positive regulation of cell cycle arrest]
GO:0090402 [oncogene-induced cell senescence]
GO:2000036 [regulation of stem cell population maintenance]
GO:2000648 [positive regulation of stem cell proliferation]
GO:2000679 [positive regulation of transcription regulatory region DNA binding]
GO:2000685 [positive regulation of cellular response to X-ray]
GO:2000774 [positive regulation of cellular senescence]
GO:2001022 [positive regulation of response to DNA damage stimulus]
GO:2001033 [negative regulation of double-strand break repair via nonhomologous end joining]
GO:2001038 [regulation of cellular response to drug]
Show all
 109 aa
11.8 kDa 		No 0
HMGA2-003
ENSP00000437621
ENST00000536545
F5H6H0 [Direct mapping]
High mobility group protein HMGI-C
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000785 [chromatin]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007165 [signal transduction]
GO:0007283 [spermatogenesis]
GO:0008283 [cell proliferation]
GO:0008284 [positive regulation of cell proliferation]
GO:0008584 [male gonad development]
GO:0010564 [regulation of cell cycle process]
GO:0010628 [positive regulation of gene expression]
GO:0019899 [enzyme binding]
GO:0021846 [cell proliferation in forebrain]
GO:0021983 [pituitary gland development]
GO:0030325 [adrenal gland development]
GO:0033144 [negative regulation of intracellular steroid hormone receptor signaling pathway]
GO:0035019 [somatic stem cell population maintenance]
GO:0040018 [positive regulation of multicellular organism growth]
GO:0046426 [negative regulation of JAK-STAT cascade]
GO:0048712 [negative regulation of astrocyte differentiation]
GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity]
GO:0060123 [regulation of growth hormone secretion]
GO:0060612 [adipose tissue development]
GO:0060613 [fat pad development]
GO:0090276 [regulation of peptide hormone secretion]
Show all
 147 aa
16.4 kDa 		No 0
HMGA2-005
ENSP00000377206
ENST00000393578
P52926 [Direct mapping]
High mobility group protein HMGI-C
Show all
Predicted intracellular proteins
Plasma proteins
Transcription factors
   beta-Sheet binding to DNA
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000228 [nuclear chromosome]
GO:0000975 [regulatory region DNA binding]
GO:0000989 [transcription factor activity, transcription factor binding]
GO:0001047 [core promoter binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001837 [epithelial to mesenchymal transition]
GO:0002062 [chondrocyte differentiation]
GO:0003131 [mesodermal-endodermal cell signaling]
GO:0003677 [DNA binding]
GO:0003680 [AT DNA binding]
GO:0003906 [DNA-(apurinic or apyrimidinic site) lyase activity]
GO:0004677 [DNA-dependent protein kinase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006284 [base-excision repair]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007067 [mitotic nuclear division]
GO:0007095 [mitotic G2 DNA damage checkpoint]
GO:0007275 [multicellular organismal development]
GO:0008134 [transcription factor binding]
GO:0008301 [DNA binding, bending]
GO:0009615 [response to virus]
GO:0010564 [regulation of cell cycle process]
GO:0010628 [positive regulation of gene expression]
GO:0030261 [chromosome condensation]
GO:0031052 [chromosome breakage]
GO:0031492 [nucleosomal DNA binding]
GO:0031507 [heterochromatin assembly]
GO:0032993 [protein-DNA complex]
GO:0035497 [cAMP response element binding]
GO:0035500 [MH2 domain binding]
GO:0035501 [MH1 domain binding]
GO:0035978 [histone H2A-S139 phosphorylation]
GO:0035985 [senescence-associated heterochromatin focus]
GO:0035986 [senescence-associated heterochromatin focus assembly]
GO:0035987 [endodermal cell differentiation]
GO:0035988 [chondrocyte proliferation]
GO:0040008 [regulation of growth]
GO:0042769 [DNA damage response, detection of DNA damage]
GO:0043065 [positive regulation of apoptotic process]
GO:0043066 [negative regulation of apoptotic process]
GO:0043392 [negative regulation of DNA binding]
GO:0043922 [negative regulation by host of viral transcription]
GO:0045444 [fat cell differentiation]
GO:0045869 [negative regulation of single stranded viral RNA replication via double stranded DNA intermediate]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046332 [SMAD binding]
GO:0048333 [mesodermal cell differentiation]
GO:0048762 [mesenchymal cell differentiation]
GO:0048863 [stem cell differentiation]
GO:0051301 [cell division]
GO:0051575 [5'-deoxyribose-5-phosphate lyase activity]
GO:0070742 [C2H2 zinc finger domain binding]
GO:0071141 [SMAD protein complex]
GO:0071158 [positive regulation of cell cycle arrest]
GO:0090402 [oncogene-induced cell senescence]
GO:2000036 [regulation of stem cell population maintenance]
GO:2000648 [positive regulation of stem cell proliferation]
GO:2000679 [positive regulation of transcription regulatory region DNA binding]
GO:2000685 [positive regulation of cellular response to X-ray]
GO:2000774 [positive regulation of cellular senescence]
GO:2001022 [positive regulation of response to DNA damage stimulus]
GO:2001033 [negative regulation of double-strand break repair via nonhomologous end joining]
GO:2001038 [regulation of cellular response to drug]
Show all
 90 aa
9.7 kDa 		No 0
HMGA2-006
ENSP00000407306
ENST00000425208
P52926 [Direct mapping]
High mobility group protein HMGI-C
Show all
Predicted intracellular proteins
Plasma proteins
Transcription factors
   beta-Sheet binding to DNA
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000228 [nuclear chromosome]
GO:0000975 [regulatory region DNA binding]
GO:0000989 [transcription factor activity, transcription factor binding]
GO:0001047 [core promoter binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001837 [epithelial to mesenchymal transition]
GO:0002062 [chondrocyte differentiation]
GO:0003131 [mesodermal-endodermal cell signaling]
GO:0003677 [DNA binding]
GO:0003680 [AT DNA binding]
GO:0003906 [DNA-(apurinic or apyrimidinic site) lyase activity]
GO:0004677 [DNA-dependent protein kinase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006284 [base-excision repair]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007067 [mitotic nuclear division]
GO:0007095 [mitotic G2 DNA damage checkpoint]
GO:0007275 [multicellular organismal development]
GO:0008134 [transcription factor binding]
GO:0008301 [DNA binding, bending]
GO:0009615 [response to virus]
GO:0010564 [regulation of cell cycle process]
GO:0010628 [positive regulation of gene expression]
GO:0030261 [chromosome condensation]
GO:0031052 [chromosome breakage]
GO:0031492 [nucleosomal DNA binding]
GO:0031507 [heterochromatin assembly]
GO:0032993 [protein-DNA complex]
GO:0035497 [cAMP response element binding]
GO:0035500 [MH2 domain binding]
GO:0035501 [MH1 domain binding]
GO:0035978 [histone H2A-S139 phosphorylation]
GO:0035985 [senescence-associated heterochromatin focus]
GO:0035986 [senescence-associated heterochromatin focus assembly]
GO:0035987 [endodermal cell differentiation]
GO:0035988 [chondrocyte proliferation]
GO:0040008 [regulation of growth]
GO:0042769 [DNA damage response, detection of DNA damage]
GO:0043065 [positive regulation of apoptotic process]
GO:0043066 [negative regulation of apoptotic process]
GO:0043392 [negative regulation of DNA binding]
GO:0043922 [negative regulation by host of viral transcription]
GO:0045444 [fat cell differentiation]
GO:0045869 [negative regulation of single stranded viral RNA replication via double stranded DNA intermediate]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046332 [SMAD binding]
GO:0048333 [mesodermal cell differentiation]
GO:0048762 [mesenchymal cell differentiation]
GO:0048863 [stem cell differentiation]
GO:0051301 [cell division]
GO:0051575 [5'-deoxyribose-5-phosphate lyase activity]
GO:0070742 [C2H2 zinc finger domain binding]
GO:0071141 [SMAD protein complex]
GO:0071158 [positive regulation of cell cycle arrest]
GO:0090402 [oncogene-induced cell senescence]
GO:2000036 [regulation of stem cell population maintenance]
GO:2000648 [positive regulation of stem cell proliferation]
GO:2000679 [positive regulation of transcription regulatory region DNA binding]
GO:2000685 [positive regulation of cellular response to X-ray]
GO:2000774 [positive regulation of cellular senescence]
GO:2001022 [positive regulation of response to DNA damage stimulus]
GO:2001033 [negative regulation of double-strand break repair via nonhomologous end joining]
GO:2001038 [regulation of cellular response to drug]
Show all
 92 aa
10.1 kDa 		No 0
HMGA2-008
ENSP00000346658
ENST00000354636
P52926 [Direct mapping]
High mobility group protein HMGI-C
Show all
Predicted intracellular proteins
Plasma proteins
Transcription factors
   beta-Sheet binding to DNA
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000228 [nuclear chromosome]
GO:0000975 [regulatory region DNA binding]
GO:0000989 [transcription factor activity, transcription factor binding]
GO:0001047 [core promoter binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001837 [epithelial to mesenchymal transition]
GO:0002062 [chondrocyte differentiation]
GO:0003131 [mesodermal-endodermal cell signaling]
GO:0003677 [DNA binding]
GO:0003680 [AT DNA binding]
GO:0003906 [DNA-(apurinic or apyrimidinic site) lyase activity]
GO:0004677 [DNA-dependent protein kinase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006284 [base-excision repair]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007067 [mitotic nuclear division]
GO:0007095 [mitotic G2 DNA damage checkpoint]
GO:0007275 [multicellular organismal development]
GO:0008134 [transcription factor binding]
GO:0008301 [DNA binding, bending]
GO:0009615 [response to virus]
GO:0010564 [regulation of cell cycle process]
GO:0010628 [positive regulation of gene expression]
GO:0030261 [chromosome condensation]
GO:0031052 [chromosome breakage]
GO:0031492 [nucleosomal DNA binding]
GO:0031507 [heterochromatin assembly]
GO:0032993 [protein-DNA complex]
GO:0035497 [cAMP response element binding]
GO:0035500 [MH2 domain binding]
GO:0035501 [MH1 domain binding]
GO:0035978 [histone H2A-S139 phosphorylation]
GO:0035985 [senescence-associated heterochromatin focus]
GO:0035986 [senescence-associated heterochromatin focus assembly]
GO:0035987 [endodermal cell differentiation]
GO:0035988 [chondrocyte proliferation]
GO:0040008 [regulation of growth]
GO:0042769 [DNA damage response, detection of DNA damage]
GO:0043065 [positive regulation of apoptotic process]
GO:0043066 [negative regulation of apoptotic process]
GO:0043392 [negative regulation of DNA binding]
GO:0043922 [negative regulation by host of viral transcription]
GO:0045444 [fat cell differentiation]
GO:0045869 [negative regulation of single stranded viral RNA replication via double stranded DNA intermediate]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046332 [SMAD binding]
GO:0048333 [mesodermal cell differentiation]
GO:0048762 [mesenchymal cell differentiation]
GO:0048863 [stem cell differentiation]
GO:0051301 [cell division]
GO:0051575 [5'-deoxyribose-5-phosphate lyase activity]
GO:0070742 [C2H2 zinc finger domain binding]
GO:0071141 [SMAD protein complex]
GO:0071158 [positive regulation of cell cycle arrest]
GO:0090402 [oncogene-induced cell senescence]
GO:2000036 [regulation of stem cell population maintenance]
GO:2000648 [positive regulation of stem cell proliferation]
GO:2000679 [positive regulation of transcription regulatory region DNA binding]
GO:2000685 [positive regulation of cellular response to X-ray]
GO:2000774 [positive regulation of cellular senescence]
GO:2001022 [positive regulation of response to DNA damage stimulus]
GO:2001033 [negative regulation of double-strand break repair via nonhomologous end joining]
GO:2001038 [regulation of cellular response to drug]
Show all
 106 aa
11.5 kDa 		No 0
HMGA2-011
ENSP00000439317
ENST00000541363
F5H2U8 [Direct mapping]
High mobility group protein HMGI-C
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785 [chromatin]
GO:0003677 [DNA binding]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
Show all
 99 aa
10.8 kDa 		No 0
HMGA2-013
ENSP00000377205
ENST00000393577
F5H2A4 [Direct mapping]
High mobility group protein HMGI-C
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785 [chromatin]
GO:0003677 [DNA binding]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
Show all
 118 aa
12.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.