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Protein

High mobility group protein HMGI-C

Gene

HMGA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes. Plays a role in postnatal myogenesis, is involved in satellite cell activation (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi24 – 34A.T hook 1Add BLAST11
DNA bindingi44 – 54A.T hook 2Add BLAST11
DNA bindingi71 – 82A.T hook 3Add BLAST12

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processCell cycle, Cell division, DNA condensation, Growth regulation, Mitosis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2559584 Formation of Senescence-Associated Heterochromatin Foci (SAHF)

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P52926

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P52926

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
High mobility group protein HMGI-C
Alternative name(s):
High mobility group AT-hook protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HMGA2
Synonyms:HMGIC
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000149948.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5009 HMGA2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600698 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P52926

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

A chromosomal aberration involving HMGA2 is associated with a subclass of benign mesenchymal tumors known as lipomas. Translocation t(3;12)(q27-q28;q13-q15) with LPP is shown in lipomas. HMGA2 is also fused with a number of other genes in lipomas.1 Publication
A chromosomal aberration involving HMGA2 is associated with pulmonary chondroid hamartomas. Translocation t(3;12)(q27-q28;q14-q15) with LPP is detected in pulmonary chondroid hamartomas.1 Publication
A chromosomal aberration involving HMGA2 is associated with parosteal lipomas. Translocation t(3;12)(q28;q14) with LPP is also shown in one parosteal lipoma.1 Publication
A chromosomal aberration involving HMGA2 is found in uterine leiomyoma. Translocation t(12;14)(q15;q23-24) with RAD51B. Chromosomal rearrangements involving HMGA2 do not seem to be the principle pathobiological mechanism in uterine leiomyoma.2 Publications

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNET

More...
DisGeNETi
8091

MalaCards human disease database

More...
MalaCardsi
HMGA2
MIMi150699 phenotype
611547 phenotype

Open Targets

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OpenTargetsi
ENSG00000149948

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
94063 12q14 microdeletion syndrome
99970 Dedifferentiated liposarcoma
454821 Pleomorphic salivary gland adenoma
99971 Well-differentiated liposarcoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30059
PA35093

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HMGA2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1708263

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002067112 – 109High mobility group protein HMGI-CAdd BLAST108

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineCombined sources1 Publication1
Modified residuei40PhosphothreonineCombined sources1
Modified residuei44PhosphoserineCombined sources1
Modified residuei101PhosphoserineBy similarity1
Modified residuei105PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Regulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity. Phosphorylated by NEK2 (By similarity).By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P52926

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P52926

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P52926

PeptideAtlas

More...
PeptideAtlasi
P52926

PRoteomics IDEntifications database

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PRIDEi
P52926

ProteomicsDB human proteome resource

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ProteomicsDBi
56551
56552 [P52926-2]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
P52926-1 [P52926-1]
P52926-2 [P52926-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P52926

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P52926

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed predominantly during embryogenesis.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000149948 Expressed in 102 organ(s), highest expression level in embryo

CleanEx database of gene expression profiles

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CleanExi
HS_HMGA2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P52926 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P52926 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB017809
HPA039076

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with E4F1 (PubMed:14645522). Interacts with NEK2 (By similarity).By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
PRMT6Q96LA82EBI-912511,EBI-912440

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
113763, 26 interactors

Protein interaction database and analysis system

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IntActi
P52926, 10 interactors

Molecular INTeraction database

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MINTi
P52926

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000384026

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P52926

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni44 – 63Interaction with E4F11 PublicationAdd BLAST20

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the HMGA family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IZGR Eukaryota
ENOG410YWK3 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000165443

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000076308

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG051913

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P52926

KEGG Orthology (KO)

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KOi
K09283

Identification of Orthologs from Complete Genome Data

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OMAi
NKGPKTA

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P52926

TreeFam database of animal gene trees

More...
TreeFami
TF351623

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR017956 AT_hook_DNA-bd_motif
IPR000116 HMGA
IPR000637 HMGI/Y_DNA-bd_CS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02178 AT_hook, 3 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00929 ATHOOK
PR00930 HIGHMOBLTYIY

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00384 AT_hook, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00354 HMGI_Y, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 6 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P52926-1) [UniParc]FASTAAdd to basket
Also known as: HMGA2a

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSARGEGAGQ PSTSAQGQPA APAPQKRGRG RPRKQQQEPT GEPSPKRPRG
60 70 80 90 100
RPKGSKNKSP SKAAQKKAEA TGEKRPRGRP RKWPQQVVQK KPAQEETEET

SSQESAEED
Length:109
Mass (Da):11,832
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF36BABE623DA4615
GO
Isoform 2 (identifier: P52926-2) [UniParc]FASTAAdd to basket
Also known as: HMGA2f

The sequence of this isoform differs from the canonical sequence as follows:
     84-109: PQQVVQKKPAQEETEETSSQESAEED → DNLLPRTSSKKKTSLGNSTKRSH

Show »
Length:106
Mass (Da):11,456
Checksum:i0596B200B4B660B6
GO
Isoform 3 (identifier: P52926-3) [UniParc]FASTAAdd to basket
Also known as: HMGA2d'

The sequence of this isoform differs from the canonical sequence as follows:
     84-109: PQQVVQKKPAQEETEETSSQESAEED → LQN

Show »
Length:86
Mass (Da):9,273
Checksum:i18F9DE5C08244EFE
GO
Isoform 4 (identifier: P52926-4) [UniParc]FASTAAdd to basket
Also known as: HMGA2d

The sequence of this isoform differs from the canonical sequence as follows:
     84-109: PQQVVQKKPAQEETEETSSQESAEED → WLLMKSPCW

Show »
Length:92
Mass (Da):10,063
Checksum:i5095EAC51787CB88
GO
Isoform 5 (identifier: P52926-5) [UniParc]FASTAAdd to basket
Also known as: HMGA2c'

The sequence of this isoform differs from the canonical sequence as follows:
     84-109: PQQVVQKKPAQEETEETSSQESAEED → LRAQALDSDGLGSNSGPSLS

Show »
Length:103
Mass (Da):10,845
Checksum:iCBBAAB6286C8BB91
GO
Isoform 6 (identifier: P52926-6) [UniParc]FASTAAdd to basket
Also known as: HMGA2c

The sequence of this isoform differs from the canonical sequence as follows:
     84-109: PQQVVQKKPAQEETEETSSQESAEED → EEFYIAA

Show »
Length:90
Mass (Da):9,742
Checksum:i606D74FA0564126C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H6H0F5H6H0_HUMAN
High mobility group protein HMGI-C
HMGA2
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H2A4F5H2A4_HUMAN
High mobility group protein HMGI-C
HMGA2
118Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H2U8F5H2U8_HUMAN
High mobility group protein HMGI-C
HMGA2
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YFY4H0YFY4_HUMAN
High mobility group protein HMGI-C
HMGA2
55Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variations in HMGA2 define the stature quantitative trait locus 9 (STQTL9) [MIMi:611547]. Human height is a classic, highly heritable quantitative trait.1 Publication

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04256484 – 109PQQVV…SAEED → DNLLPRTSSKKKTSLGNSTK RSH in isoform 2. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_04777284 – 109PQQVV…SAEED → LQN in isoform 3. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_04777384 – 109PQQVV…SAEED → WLLMKSPCW in isoform 4. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_04777484 – 109PQQVV…SAEED → LRAQALDSDGLGSNSGPSLS in isoform 5. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_04777584 – 109PQQVV…SAEED → EEFYIAA in isoform 6. 1 PublicationAdd BLAST26

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Z31595 mRNA Translation: CAA83472.1
U28749 mRNA Translation: AAA68613.1
U28754
, U28750, U28751, U28752, U28753 Genomic DNA Translation: AAA68614.1
L46353, L41044, L44578 Genomic DNA Translation: AAA96484.1
X92518 mRNA Translation: CAA63295.1
AY601861 mRNA Translation: AAU43851.1
AY601862 mRNA Translation: AAU43852.1
AY601863 mRNA Translation: AAU43853.1
AY601864 mRNA Translation: AAU43854.1
AY601867 mRNA Translation: AAU43857.1
AC090673 Genomic DNA No translation available.
AC107308 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS31854.1 [P52926-2]
CCDS44936.1 [P52926-1]
CCDS81709.1 [P52926-6]

Protein sequence database of the Protein Information Resource

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PIRi
JC2232

NCBI Reference Sequences

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RefSeqi
NP_001317119.1, NM_001330190.1 [P52926-6]
NP_003474.1, NM_003483.4 [P52926-1]
NP_003475.1, NM_003484.1 [P52926-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.505924
Hs.666976

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000354636; ENSP00000346658; ENSG00000149948 [P52926-2]
ENST00000393578; ENSP00000377206; ENSG00000149948 [P52926-6]
ENST00000403681; ENSP00000384026; ENSG00000149948 [P52926-1]
ENST00000425208; ENSP00000407306; ENSG00000149948 [P52926-4]
ENST00000537275; ENSP00000437747; ENSG00000149948 [P52926-5]
ENST00000537429; ENSP00000443372; ENSG00000149948 [P52926-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
8091

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8091

UCSC genome browser

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UCSCi
uc001sss.2 human [P52926-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z31595 mRNA Translation: CAA83472.1
U28749 mRNA Translation: AAA68613.1
U28754
, U28750, U28751, U28752, U28753 Genomic DNA Translation: AAA68614.1
L46353, L41044, L44578 Genomic DNA Translation: AAA96484.1
X92518 mRNA Translation: CAA63295.1
AY601861 mRNA Translation: AAU43851.1
AY601862 mRNA Translation: AAU43852.1
AY601863 mRNA Translation: AAU43853.1
AY601864 mRNA Translation: AAU43854.1
AY601867 mRNA Translation: AAU43857.1
AC090673 Genomic DNA No translation available.
AC107308 Genomic DNA No translation available.
CCDSiCCDS31854.1 [P52926-2]
CCDS44936.1 [P52926-1]
CCDS81709.1 [P52926-6]
PIRiJC2232
RefSeqiNP_001317119.1, NM_001330190.1 [P52926-6]
NP_003474.1, NM_003483.4 [P52926-1]
NP_003475.1, NM_003484.1 [P52926-2]
UniGeneiHs.505924
Hs.666976

3D structure databases

ProteinModelPortaliP52926
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113763, 26 interactors
IntActiP52926, 10 interactors
MINTiP52926
STRINGi9606.ENSP00000384026

PTM databases

iPTMnetiP52926
PhosphoSitePlusiP52926

Polymorphism and mutation databases

BioMutaiHMGA2
DMDMi1708263

Proteomic databases

EPDiP52926
MaxQBiP52926
PaxDbiP52926
PeptideAtlasiP52926
PRIDEiP52926
ProteomicsDBi56551
56552 [P52926-2]
TopDownProteomicsiP52926-1 [P52926-1]
P52926-2 [P52926-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
8091
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354636; ENSP00000346658; ENSG00000149948 [P52926-2]
ENST00000393578; ENSP00000377206; ENSG00000149948 [P52926-6]
ENST00000403681; ENSP00000384026; ENSG00000149948 [P52926-1]
ENST00000425208; ENSP00000407306; ENSG00000149948 [P52926-4]
ENST00000537275; ENSP00000437747; ENSG00000149948 [P52926-5]
ENST00000537429; ENSP00000443372; ENSG00000149948 [P52926-3]
GeneIDi8091
KEGGihsa:8091
UCSCiuc001sss.2 human [P52926-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
8091
DisGeNETi8091
EuPathDBiHostDB:ENSG00000149948.13

GeneCards: human genes, protein and diseases

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GeneCardsi
HMGA2
HGNCiHGNC:5009 HMGA2
HPAiCAB017809
HPA039076
MalaCardsiHMGA2
MIMi150699 phenotype
600698 gene
611547 phenotype
neXtProtiNX_P52926
OpenTargetsiENSG00000149948
Orphaneti94063 12q14 microdeletion syndrome
99970 Dedifferentiated liposarcoma
454821 Pleomorphic salivary gland adenoma
99971 Well-differentiated liposarcoma
PharmGKBiPA30059
PA35093

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IZGR Eukaryota
ENOG410YWK3 LUCA
GeneTreeiENSGT00940000165443
HOGENOMiHOG000076308
HOVERGENiHBG051913
InParanoidiP52926
KOiK09283
OMAiNKGPKTA
PhylomeDBiP52926
TreeFamiTF351623

Enzyme and pathway databases

ReactomeiR-HSA-2559584 Formation of Senescence-Associated Heterochromatin Foci (SAHF)
SignaLinkiP52926
SIGNORiP52926

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HMGA2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HMGA2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
8091

Protein Ontology

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PROi
PR:P52926

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000149948 Expressed in 102 organ(s), highest expression level in embryo
CleanExiHS_HMGA2
ExpressionAtlasiP52926 baseline and differential
GenevisibleiP52926 HS

Family and domain databases

InterProiView protein in InterPro
IPR017956 AT_hook_DNA-bd_motif
IPR000116 HMGA
IPR000637 HMGI/Y_DNA-bd_CS
PfamiView protein in Pfam
PF02178 AT_hook, 3 hits
PRINTSiPR00929 ATHOOK
PR00930 HIGHMOBLTYIY
SMARTiView protein in SMART
SM00384 AT_hook, 3 hits
PROSITEiView protein in PROSITE
PS00354 HMGI_Y, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHMGA2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P52926
Secondary accession number(s): E7EP85
, E7EWA2, Q1M182, Q1M185, Q1M186, Q1M187, Q1M188
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: December 5, 2018
This is version 180 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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