HMGA2 - high mobility group AT-hook 2 Gene

Also Known as BABL; LIPO; SRS5; HMGIC; HMGI-C; STQTL9

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8091

About HMGA2

Cytogenetic location: 12q14.3 Genomic coordinates (GRCh38): 12:65,824,460-65,966,291 (from NCBI)

This gene has 11 transcripts (splice variants), 138 orthologues and is associated with 73 phenotypes. Low expression observed in reference dataset.

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]

HMGA2 Products (5)

mRNA	Protein	Name
NM_001300918.1	NP_001287847.1	high mobility group protein HMGI-C isoform c
NM_001300919.1	NP_001287848.1	high mobility group protein HMGI-C isoform d
NM_001330190.1	NP_001317119.1	high mobility group protein HMGI-C isoform 3
NM_003483.6	NP_003474.1	high mobility group protein HMGI-C isoform a
NM_003484.1	NP_003475.1	high mobility group protein HMGI-C isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables 5'-deoxyribose-5-phosphate lyase activity	IDA IDA: Inferred from direct assay	19465398	GOA
enables C2H2 zinc finger domain binding	IMP IMP: Inferred from mutant phenotype	14645522	GOA
enables DNA binding, bending	IDA IDA: Inferred from direct assay	20108983	GOA
enables DNA binding, bending	IMP IMP: Inferred from mutant phenotype	14627817	GOA
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA IDA: Inferred from direct assay	19465398	GOA
enables MH1 domain binding	IDA IDA: Inferred from direct assay	18832382	GOA
enables MH2 domain binding	IDA IDA: Inferred from direct assay	18832382	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	14645522	GOA
enables SMAD binding	IPI IPI: Inferred from physical interaction	18832382	GOA
enables cAMP response element binding	IDA IDA: Inferred from direct assay	14645522	GOA
enables minor groove of adenine-thymine-rich DNA binding	IDA IDA: Inferred from direct assay	14627817	GOA
enables minor groove of adenine-thymine-rich DNA binding	IMP IMP: Inferred from mutant phenotype	18832382	GOA
enables nucleic acid binding	EXP EXP: Inferred from Experiment	29262356	GOA
enables nucleosomal DNA binding	IDA IDA: Inferred from direct assay	17078040	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16293633	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	17426251	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	14627817	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in base-excision repair	IDA IDA: Inferred from direct assay	19465398	GOA
involved in chondrocyte differentiation	IDA IDA: Inferred from direct assay	21484705	GOA
involved in chondrocyte proliferation	IDA IDA: Inferred from direct assay	21484705	GOA
involved in endodermal cell differentiation	IMP IMP: Inferred from mutant phenotype	17624332	GOA
involved in epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	18832382	GOA
involved in fat cell differentiation	IMP IMP: Inferred from mutant phenotype	7606786	GOA
involved in heterochromatin formation	IDA IDA: Inferred from direct assay	16901784	GOA
involved in intracellular signal transduction	IDA IDA: Inferred from direct assay	16061642	GOA
involved in mesenchymal cell differentiation	IMP IMP: Inferred from mutant phenotype	7606786	GOA
involved in mesodermal cell differentiation	IMP IMP: Inferred from mutant phenotype	17624332	GOA
involved in mesodermal-endodermal cell signaling	IMP IMP: Inferred from mutant phenotype	17624332	GOA
involved in negative regulation by host of viral transcription	IDA IDA: Inferred from direct assay	17005673	GOA
involved in negative regulation of DNA binding	IDA IDA: Inferred from direct assay	14645522	GOA
involved in negative regulation of DNA binding	IMP IMP: Inferred from mutant phenotype	19549901	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	18832382	GOA
involved in negative regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	16901784	GOA
involved in negative regulation of apoptotic process	IDA IDA: Inferred from direct assay	19465398	GOA
involved in negative regulation of double-strand break repair via nonhomologous end joining	IDA IDA: Inferred from direct assay	19549901	GOA
involved in negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IDA IDA: Inferred from direct assay	17005673	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	14627817	GOA
involved in oncogene-induced cell senescence	IDA IDA: Inferred from direct assay	16901784	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	15225648	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	17624332	GOA
involved in positive regulation of gene expression	IDA IDA: Inferred from direct assay	18832382	GOA
involved in positive regulation of protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	19549901	GOA
involved in positive regulation of stem cell proliferation	IDA IDA: Inferred from direct assay	21484705	GOA
involved in positive regulation of stem cell proliferation	IMP IMP: Inferred from mutant phenotype	17624332	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	14645522	GOA
involved in regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	7606786	GOA
involved in regulation of cell cycle process	IDA IDA: Inferred from direct assay	14645522	GOA
involved in regulation of stem cell population maintenance	IMP IMP: Inferred from mutant phenotype	17624332	GOA
involved in response to virus	IEP IEP: Inferred from expression pattern	17005673	GOA
involved in stem cell differentiation	IEP IEP: Inferred from expression pattern	17078040	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of SMAD protein complex	IDA IDA: Inferred from direct assay	18832382	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16901784	GOA
part of protein-DNA complex	IDA IDA: Inferred from direct assay	19465398	GOA
located in senescence-associated heterochromatin focus	IDA IDA: Inferred from direct assay	16901784	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HMGA2 Protein Structure

AT_hook

0
100
109 a.a.

Protein Preferred Names	Protein Names
high mobility group protein HMGI-C	HMGA2/KRT121P fusion

HMGA2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	HMGA2	P52926	RUNX1	Homo sapiens	Q01196	Anti Bait CoIP	29391048

Cross: Cross-species interaction Intra: Intraspecies interaction

HMGA2 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P81441	HMGA2 Antibody (YA1186)	IHC-P	Human
HY-P81441A	HMGA2 Antibody (YA1186)(PBS only)	IHC-P	Human

Related Diseases

Diseases	Alias
Silver-Russell Syndrome 5	SRS5
Salivary Gland Adenoma, Pleomorphic	Salivary Gland Pleomorphic Adenoma Sgpa Psa Adenomas, Salivary Gland Pleomorphic, Somatic Benign Epithelial Tumor Of Salivary Glands Pleomorphic Salivary Gland Adenoma Pleomorphic Adenoma Of Salivary Gland Adenomas, Salivary Gland Pleomorphic Adenoma, Salivary Gland, Pleomorphic, Somatic
Silver-Russell Syndrome Due To A Point Mutation
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Stature Quantitative Trait Locus 9	Stature Qtl 9 STQTL9
Leiomyoma	Leiomyomatous Neoplasm Leiomyomatous Tumor Leiomyomas Fibroid Tumor Uterine Fibroids
12q14 Microdeletion Syndrome	Del(12)(Q14) Deletion 12q14 Monosomy 12q14 Osteopoikilosis-Short Stature-Intellectual Disability Syndrome
Dedifferentiated Liposarcoma	Ddls Liposarcoma Dedifferentiated Liposarcoma, Dedifferentiated
Lipomatosis, Multiple	Lipoma Familial Multiple Lipomatosis Lipomatosis, Familial Multiple Benign Lipomatous Tumor Lipomatous Neoplasm Multiple Lipomatosis Fml Lipo Benign Tumor Of Adipose Tissue Lipomatous Tumor Tumor Of Adipose Tissue Neoplasms, Adipose Tissue Lipomas
Well-Differentiated Liposarcoma	Atypical Lipomatous Tumor Atypical Lipoma Alt Wdls Liposarcoma, Well Differentiated Pleomorphic Lipoma
Liposarcoma	Lipomatous Cancer
Pleomorphic Adenoma	Mixed Tumor Of The Salivary Gland Adenoma Pleomorphic Adenoma, Pleomorphic Mixed Salivary Gland Tumor Mixed Tumor, Not Otherwise Specified
Pleomorphic Lipoma	Lipoma Lipoma Pleomorphic Lipomatosis, Multiple
Lipomatosis	Benign Symmetrical Lipomatosis
Myoma	Muscle Benign Neoplasm Myomatous Neoplasm Neoplasms, Muscle Tissue Benign Neoplasm Of The Muscle Muscle Neoplasm Muscle Tissue Neoplasm Myomatous Tumor Neoplasm Of Muscle Muscle Neoplasms Myomas
Breast Fibroadenoma	Fibroadenoma Fibroadenoma Of Breast Juvenile Fibroadenoma Of Breast Cellular Fibroadenoma Complex Fibroadenoma Of Breast Juvenile Fibroadenoma Fibroadenoma Nos Fibroadenoma Unspecified Site
Pelvic Lipomatosis	Excess Of Mature Unencapsulated Fatty Tissue In The Pelvis
Smooth Muscle Tumor
Myxoid Liposarcoma	Myxoid/Round Cell Liposarcoma Liposarcoma, Myxoid Mrcls Myxoliposarcoma MXLIPO Liposarcoma Myxoid Liposarcoma
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Ostravik-Lindemann-Solberg Syndrome CHDTHP Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome Orstavik Lindemann Solberg Syndrome Heart Defect - Tongue Hamartoma - Polysyndactyly Syndrome Heart Defect, Tongue Hamartoma And Polysyndactyly Hamartoma
Myelofibrosis	Primary Myelofibrosis Agnogenic Myeloid Metaplasia Idiopathic Myelofibrosis Myeloid Metaplasia Myelofibrosis With Myeloid Metaplasia Osteomyelofibrosis Megakaryocytic Myelosclerosis Myelosclerosis Chronic Idiopathic Myelofibrosis Myelofibrosis, Idiopathic Myelofibrosis With Myeloid Metaplasia, Somatic Myelofibrosis, Somatic Aleukemic Myelosis Bone Marrow Fibrosis MYELOF MMM Agnogenic Myeloid Metaplasia With Myelofibrosis Ammm Myelosclerosis With Myeloid Metaplasia Myelofibrosis Nos
Intravenous Leiomyomatosis	Leiomyomatosis
Encephalocraniocutaneous Lipomatosis	ECCL Haberland Syndrome Fishman Syndrome Encephalocraniocutaneous Lipomatosis, Somatic Mosaic Lipomatosis, Encephalocraniocutaneous
Infiltrating Lipoma	Intramuscular Lipoma
Chondroma	Central Chondroma Enchondroma
Immune System Organ Benign Neoplasm
Thymus Lipoma	Thymolipoma
Polycythemia Vera	PV Polycythemia Rubra Vera Prv Osler-Vaquez Disease Chronic Erythremia Polycythaemia Rubra Vera Primary Polycythemia Vaquez Disease Polycythemia Vera, Somatic Osler-Vaquez Syndrome Proliferative Polycythaemia Polycythemia Ruba Vera Acquired Primary Erythrocytosis Heilmeyer-Schoner Disease Vaquez Osler Disease Primary Polycythaemia
Soft Tissue Chondroma	Extraskeletal Chondroma
Leiomyoma, Uterine	Uterine Leiomyoma Uterine Fibroid Uterine Fibroids Plexiform Leiomyoma UL Leiomyoma Of Corpus Uteri Uterus Fibroma
Pleomorphic Adenoma Carcinoma	Carcinoma Ex Pleomorphic Adenoma Carcinoma In Pleomorphic Adenoma
Dermatofibrosarcoma Protuberans	DFSP Dermatofibrosarcoma Giant Cell Fibroblastoma Metastatic Dermatofibrosarcoma Protuberans Familial Dermatofibrosarcoma Protuberans Darier-Ferrand Tumor Darier-Hoffmann Tumor
Uterine Benign Neoplasm
Reproductive Organ Benign Neoplasm
Uterus Leiomyosarcoma	Leiomyosarcoma Of Uterus Leiomyosarcoma Of Corpus Uteri Leiomyosarcoma Of The Corpus Uteri Uterine Leiomyosarcoma
Conventional Lipoma	Classic Type Lipoma
Mediastinal Lipomatosis
Pancreas Sarcoma	Sarcoma Of Pancreas
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Leiomyosarcoma	Leiomyosarcomas
Sarcoma, Synovial	Synovial Sarcoma Synovialosarcoma Synovial Cell Sarcoma Sarcoma Synovial
Prolactinoma	Prolactin-Producing Pituitary Gland Adenoma Prolactin-Secreting Pituitary Adenoma Forbes-Albright Syndrome Lactotroph Adenoma Prl-Secreting Pituitary Adenoma Prloma Pituitary Lactotrophic Adenoma Familial Prolactinoma Pituitary Adenoma, Prolactin-Secreting Prolactinoma Of Pituitary Gland PSPA
Infiltrating Angiolipoma	Angiolipoma, Infiltrating
Adiposis Dolorosa	Dercum Disease Dercum'S Disease Lipomatosis Dolorosa Adiposalgia Adipose Tissue Rheumatism Anders Syndrome Dercum-Vitaut Syndrome Morbus Dercum
Chest Wall Lipoma	Lipoma Of The Chest Wall Lipoma Of Chest Wall
Lipoadenoma
Mesenchymal Cell Neoplasm	Benign Miscellaneous Mesenchymal Tumor Mesenchymal Tumor Mesenchymal Tumors
Chondroid Lipoma
Cervical Adenoma Malignum	Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant
Spindle Cell Lipoma
Osteopoikilosis	Osteopathia Condensans Disseminata Spotted Bones Dermatofibrosis Lenticularis Disseminata
Vulvar Leiomyoma
Skin Lipoma	Lipoma Of Skin Cutaneous Lipoma Cutaneous Lipomatous Tumor Lipoma Of Face Cutaneous Lipomatous Neoplasm
Retroperitoneal Sarcoma
Nodular Tenosynovitis	Synovioma, Benign Benign Synovioma Benign Tumor Of Synovium Localized Giant Cell Tumor Of Tenosynovium Giant Cell Tumor Of Tendon Sheath
Lipoma Of Colon	Colonic Lipoma Colon Lipoma
Large Intestine Lipoma	Lipoma Of Large Intestine Colorectal Lipoma
Deafness, Autosomal Recessive 74	DFNB74 Autosomal Recessive Nonsyndromic Deafness 74 Autosomal Recessive Deafness 74 Deafness, Autosomal Recessive, 74 Deafness, Autosomal Recessive, Type 74
Dermis Tumor	Dermis Tumour Neoplasm Of Dermis Tumor Of Dermis Tumour Of Dermis
Pleomorphic Liposarcoma	Pls Liposarcoma Pleomorphic Liposarcoma, Pleomorphic
Colon Leiomyoma	Colonic Leiomyoma
Orbit Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma Of The Orbit
Myeloproliferative Neoplasm	Myeloproliferative Disorder Chronic Myeloproliferative Disease Myeloproliferative Neoplasms Chronic Myeloproliferative Disorder Cmpd Cmpd, U Chronic Myeloproliferative Disorders Mpd Mpn Myeloproliferative Disorders Myeloproliferative Disease Campomelic Dysplasia
Rhabdomyosarcoma
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Mixed Lacrimal Gland Cancer	Carcinoma Ex Pleomorphic Adenoma Of Lacrimal Gland Carcinoma Ex Pleomorphic Adenoma Of The Lacrimal Gland Malignant Mixed Neoplasm Of Lacrimal Gland
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Myxofibrosarcoma	Fibromyxosarcoma Fibromyxoid Sarcoma Myxoid Malignant Fibrous Histiocytoma Dermatofibrosarcoma Protuberans, Myxoid
Orbit Rhabdomyosarcoma	Rhabdomyosarcoma Of The Orbit Rhabdomyosarcoma Of Orbit
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS06231	HMGA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17662	Hmga2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24123	Hmga2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HMGA2	VGNC	VGNC:29875
Rattus norvegicus	HMGA2	RGD	RGD:620617
Macaca mulatta	HMGA2	VGNC	VGNC:82157
Mus musculus	HMGA2	MGD	MGI:101761