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Entry version 131 (22 Apr 2020)
Sequence version 1 (01 Mar 2002)
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Protein

m-AAA protease-interacting protein 1, mitochondrial

Gene

MAIP1

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

Promotes sorting of SMDT1/EMRE in mitochondria by ensuring its maturation (PubMed:27642048). Interacts with the transit peptide region of SMDT1/EMRE precursor protein in the mitochondrial matrix, leading to protect it against protein degradation by YME1L1, thereby ensuring SMDT1/EMRE maturation by the mitochondrial processing peptidase (PMPCA and PMPCB) (PubMed:27642048).1 Publication

<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

  • ribosome binding Source: GO_Central

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8949664 Processing of SMDT1

<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%5Fand%5Ftaxonomy%5Fsection">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:
m-AAA protease-interacting protein 1, mitochondrial1 Publication
Alternative name(s):
Matrix AAA peptidase-interacting protein 1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:MAIP11 PublicationImported
Synonyms:C2orf47
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26198 MAIP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617267 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8WWC4

<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 & Seán O’Donoghue; 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

Mitochondrion

<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
79568

Open Targets

More...
OpenTargetsi
ENSG00000162972

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162379149

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8WWC4 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MAIP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74730963

<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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 96MitochondrionSequence analysisAdd BLAST96
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000030194597 – 291m-AAA protease-interacting protein 1, mitochondrialAdd BLAST195

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8WWC4

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8WWC4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8WWC4

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8WWC4

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

More...
PaxDbi
Q8WWC4

PeptideAtlas

More...
PeptideAtlasi
Q8WWC4

PRoteomics IDEntifications database

More...
PRIDEi
Q8WWC4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
74877

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q8WWC4

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8WWC4

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

More...
PhosphoSitePlusi
Q8WWC4

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000162972 Expressed in liver and 225 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8WWC4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8WWC4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000162972 Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with AFG3L2 (PubMed:27499296, PubMed:27642048).

Interacts with SPG7 (PubMed:27499296).

Interacts with SMDT1/EMRE (via the N-terminal transit peptide); interaction is direct and takes place before maturation of SMDT1/EMRE (PubMed:27642048).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122716, 58 interactors

Protein interaction database and analysis system

More...
IntActi
Q8WWC4, 84 interactors

Molecular INTeraction database

More...
MINTi
Q8WWC4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000295079

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8WWC4 protein

<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

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IHVH Eukaryota
ENOG4111MUA LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000004145

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_083348_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8WWC4

Identification of Orthologs from Complete Genome Data

More...
OMAi
IPNPFIW

Database of Orthologous Groups

More...
OrthoDBi
1056493at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8WWC4

TreeFam database of animal gene trees

More...
TreeFami
TF323801

<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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q8WWC4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MALAARLLPQ FLHSRSLPCG AVRLRTPAVA EVRLPSATLC YFCRCRLGLG
60 70 80 90 100
AALFPRSARA LAASALPAQG SRWPVLSSPG LPAAFASFPA CPQRSYSTEE
110 120 130 140 150
KPQQHQKTKM IVLGFSNPIN WVRTRIKAFL IWAYFDKEFS ITEFSEGAKQ
160 170 180 190 200
AFAHVSKLLS QCKFDLLEEL VAKEVLHALK EKVTSLPDNH KNALAANIDE
210 220 230 240 250
IVFTSTGDIS IYYDEKGRKF VNILMCFWYL TSANIPSETL RGASVFQVKL
260 270 280 290
GNQNVETKQL LSASYEFQRE FTQGVKPDWT IARIEHSKLL E
Length:291
Mass (Da):32,545
Last modified:March 1, 2002 - 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:i97D958B2AC9C1163
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C0V0H7C0V0_HUMAN
m-AAA protease-interacting protein ...
MAIP1
225Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti208D → G in BAB15393 (PubMed:14702039).Curated1

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_034911290L → I. Corresponds to variant dbSNP:rs2118548Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK026208 mRNA Translation: BAB15393.1
AC097717 Genomic DNA Translation: AAY24163.1
CH471063 Genomic DNA Translation: EAW70195.1
BC017959 mRNA Translation: AAH17959.1
AL832964 mRNA Translation: CAH56348.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2329.1

NCBI Reference Sequences

More...
RefSeqi
NP_078796.2, NM_024520.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000295079; ENSP00000295079; ENSG00000162972
ENST00000392290; ENSP00000376111; ENSG00000162972

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
79568

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:79568

UCSC genome browser

More...
UCSCi
uc002uvm.4 human

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
AK026208 mRNA Translation: BAB15393.1
AC097717 Genomic DNA Translation: AAY24163.1
CH471063 Genomic DNA Translation: EAW70195.1
BC017959 mRNA Translation: AAH17959.1
AL832964 mRNA Translation: CAH56348.1
CCDSiCCDS2329.1
RefSeqiNP_078796.2, NM_024520.2

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi122716, 58 interactors
IntActiQ8WWC4, 84 interactors
MINTiQ8WWC4
STRINGi9606.ENSP00000295079

PTM databases

iPTMnetiQ8WWC4
PhosphoSitePlusiQ8WWC4

Polymorphism and mutation databases

BioMutaiMAIP1
DMDMi74730963

Proteomic databases

EPDiQ8WWC4
jPOSTiQ8WWC4
MassIVEiQ8WWC4
MaxQBiQ8WWC4
PaxDbiQ8WWC4
PeptideAtlasiQ8WWC4
PRIDEiQ8WWC4
ProteomicsDBi74877
TopDownProteomicsiQ8WWC4

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
34082 105 antibodies

The DNASU plasmid repository

More...
DNASUi
79568

Genome annotation databases

EnsembliENST00000295079; ENSP00000295079; ENSG00000162972
ENST00000392290; ENSP00000376111; ENSG00000162972
GeneIDi79568
KEGGihsa:79568
UCSCiuc002uvm.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79568
DisGeNETi79568

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MAIP1
HGNCiHGNC:26198 MAIP1
HPAiENSG00000162972 Low tissue specificity
MIMi617267 gene
neXtProtiNX_Q8WWC4
OpenTargetsiENSG00000162972
PharmGKBiPA162379149

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHVH Eukaryota
ENOG4111MUA LUCA
GeneTreeiENSGT00390000004145
HOGENOMiCLU_083348_0_0_1
InParanoidiQ8WWC4
OMAiIPNPFIW
OrthoDBi1056493at2759
PhylomeDBiQ8WWC4
TreeFamiTF323801

Enzyme and pathway databases

ReactomeiR-HSA-8949664 Processing of SMDT1

Miscellaneous databases

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

More...
GenomeRNAii
79568
PharosiQ8WWC4 Tdark

Protein Ontology

More...
PROi
PR:Q8WWC4
RNActiQ8WWC4 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000162972 Expressed in liver and 225 other tissues
ExpressionAtlasiQ8WWC4 baseline and differential
GenevisibleiQ8WWC4 HS

Family and domain databases

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiMAIP1_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: Q8WWC4
Secondary accession number(s): Q658V9, Q9H671
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: March 1, 2002
Last modified: April 22, 2020
This is version 131 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

Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  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
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