1. Gene
  2. HMGA2 - high mobility group AT-hook 2 Gene

HMGA2 - high mobility group AT-hook 2 Gene

Homo sapiens

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

Gene ID: 8091 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

AT_hook: AT hook motif (26 - 36)

AT_hook

AT_hook: AT hook motif (46 - 58)

AT_hook

AT_hook: AT hook motif (74 - 85)

  • 0
  • 100
  • 109 a.a.
Protein Preferred Names Protein Names

high mobility group protein HMGI-C

HMGA2/KRT121P fusion

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

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