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Protein

Myeloid leukemia factor 2

Gene

MLF2

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

Annotation score:3 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

<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

  • DNA binding Source: GO_Central

GO - Biological processi

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...
MoonDBi
Q15773 Predicted

<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:
Myeloid leukemia factor 2
Alternative name(s):
Myelodysplasia-myeloid leukemia factor 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:MLF2
<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:ENSG00000089693.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7126 MLF2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601401 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15773

<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

<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>Keywords - Cellular componenti

Cytoplasm, 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

Organism-specific databases

DisGeNET

More...
DisGeNETi
8079

Open Targets

More...
OpenTargetsi
ENSG00000089693

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30844

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MLF2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
17368482

<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 ‘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_00002207541 – 248Myeloid leukemia factor 2Add BLAST248

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 residuei217PhosphoserineCombined sources1
Modified residuei238PhosphoserineCombined sources1
Modified residuei240PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q15773

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q15773

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

More...
PaxDbi
Q15773

PeptideAtlas

More...
PeptideAtlasi
Q15773

PRoteomics IDEntifications database

More...
PRIDEi
Q15773

ProteomicsDB human proteome resource

More...
ProteomicsDBi
60755

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q15773

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

More...
PhosphoSitePlusi
Q15773

<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 a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000089693 Expressed in 231 organ(s), highest expression level in anterior cingulate cortex

CleanEx database of gene expression profiles

More...
CleanExi
HS_MLF2

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q15773 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q15773 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA010811
HPA010859

<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%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
DNAJB6O751903EBI-1051875,EBI-1053164

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
113752, 53 interactors

Protein interaction database and analysis system

More...
IntActi
Q15773, 40 interactors

Molecular INTeraction database

More...
MINTi
Q15773

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000203630

<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

More...
ProteinModelPortali
Q15773

Database of comparative protein structure models

More...
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

<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 MLF family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4049 Eukaryota
ENOG4111J7M LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000005023

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000045671

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG019060

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q15773

Identification of Orthologs from Complete Genome Data

More...
OMAi
MERMSGS

Database of Orthologous Groups

More...
OrthoDBi
1471165at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q15773

TreeFam database of animal gene trees

More...
TreeFami
TF317561

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR019376 Myeloid_leukemia_factor

The PANTHER Classification System

More...
PANTHERi
PTHR13105 PTHR13105, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10248 Mlf1IP, 1 hit

<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>Sequence (1+)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.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q15773-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MFRFMRDVEP EDPMFLMDPF AIHRQHMSRM LSGGFGYSPF LSITDGNMPG
60 70 80 90 100
TRPASRRMQQ AGAVSPFGML GMSGGFMDMF GMMNDMIGNM EHMTAGGNCQ
110 120 130 140 150
TFSSSTVISY SNTGDGAPKV YQETSEMRSA PGGIRETRRT VRDSDSGLEQ
160 170 180 190 200
MSIGHHIRDR AHILQRSRNH RTGDQEERQD YINLDESEAA AFDDEWRRET
210 220 230 240
SRFRQQRPLE FRRLESSGAG GRRAEGPPRL AIQGPEDSPS RQSRRYDW
Length:248
Mass (Da):28,147
Last modified:November 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:iEB1DC52AD1767715
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H800F5H800_HUMAN
Myeloid leukemia factor 2
MLF2
121Annotation 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>
F5H7L5F5H7L5_HUMAN
Myeloid leukemia factor 2
MLF2
79Annotation 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>
F5H0Y3F5H0Y3_HUMAN
Myeloid leukemia factor 2
MLF2
230Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03642980F → C in a colorectal cancer sample; somatic mutation. 1 Publication1

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
U57342 mRNA Translation: AAB08988.1
AF070539 mRNA Translation: AAC28632.1
BC000898 mRNA Translation: AAH00898.1
BC002340 mRNA Translation: AAH02340.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS8559.1

NCBI Reference Sequences

More...
RefSeqi
NP_005430.1, NM_005439.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.524214

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000203630; ENSP00000203630; ENSG00000089693
ENST00000435120; ENSP00000403941; ENSG00000089693
ENST00000539187; ENSP00000446317; ENSG00000089693
ENST00000542154; ENSP00000438671; ENSG00000089693

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
8079

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:8079

Keywords - Coding sequence diversityi

Polymorphism

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U57342 mRNA Translation: AAB08988.1
AF070539 mRNA Translation: AAC28632.1
BC000898 mRNA Translation: AAH00898.1
BC002340 mRNA Translation: AAH02340.1
CCDSiCCDS8559.1
RefSeqiNP_005430.1, NM_005439.2
UniGeneiHs.524214

3D structure databases

ProteinModelPortaliQ15773
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113752, 53 interactors
IntActiQ15773, 40 interactors
MINTiQ15773
STRINGi9606.ENSP00000203630

Protein family/group databases

MoonDBiQ15773 Predicted

PTM databases

iPTMnetiQ15773
PhosphoSitePlusiQ15773

Polymorphism and mutation databases

BioMutaiMLF2
DMDMi17368482

Proteomic databases

EPDiQ15773
jPOSTiQ15773
PaxDbiQ15773
PeptideAtlasiQ15773
PRIDEiQ15773
ProteomicsDBi60755

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
8079
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000203630; ENSP00000203630; ENSG00000089693
ENST00000435120; ENSP00000403941; ENSG00000089693
ENST00000539187; ENSP00000446317; ENSG00000089693
ENST00000542154; ENSP00000438671; ENSG00000089693
GeneIDi8079
KEGGihsa:8079

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8079
DisGeNETi8079
EuPathDBiHostDB:ENSG00000089693.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MLF2
HGNCiHGNC:7126 MLF2
HPAiHPA010811
HPA010859
MIMi601401 gene
neXtProtiNX_Q15773
OpenTargetsiENSG00000089693
PharmGKBiPA30844

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4049 Eukaryota
ENOG4111J7M LUCA
GeneTreeiENSGT00390000005023
HOGENOMiHOG000045671
HOVERGENiHBG019060
InParanoidiQ15773
OMAiMERMSGS
OrthoDBi1471165at2759
PhylomeDBiQ15773
TreeFamiTF317561

Miscellaneous databases

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

More...
ChiTaRSi
MLF2 human

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

More...
GenomeRNAii
8079

Protein Ontology

More...
PROi
PR:Q15773

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000089693 Expressed in 231 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_MLF2
ExpressionAtlasiQ15773 baseline and differential
GenevisibleiQ15773 HS

Family and domain databases

InterProiView protein in InterPro
IPR019376 Myeloid_leukemia_factor
PANTHERiPTHR13105 PTHR13105, 1 hit
PfamiView protein in Pfam
PF10248 Mlf1IP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
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 nameiMLF2_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: Q15773
<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: November 2, 2001
Last sequence update: November 1, 1996
Last modified: January 16, 2019
This is version 148 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, Reference proteome

Documents

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