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UniProtKB - Q8NFJ8 (BHE22_HUMAN)

Entry version 125 (22 Apr 2020)
Sequence version 1 (01 Oct 2002)
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Protein

Class E basic helix-loop-helix protein 22

Gene

BHLHE22

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 transcript 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

Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity). In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealization. May be required for the survival of a specific population of inhibitory neurons in the superficial laminae of the spinal chord dorsal horn that may regulate pruritis. Seems to play a crucial role in the retinogenesis, in the specification of amacrine and bipolar subtypes. Forms with PRDM8 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation.By similarity

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionRepressor
Biological processNeurogenesis, Transcription, Transcription regulation

<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:
Class E basic helix-loop-helix protein 22
Short name:
bHLHe22
Alternative name(s):
Class B basic helix-loop-helix protein 5
Short name:
bHLHb5
Trinucleotide repeat-containing gene 20 protein
<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:BHLHE22
Synonyms:BHLHB5, TNRC20
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 8

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11963 BHLHE22

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613483 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NFJ8

<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

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

Organism-specific databases

DisGeNET

More...DisGeNETi		27319

Open Targets

More...OpenTargetsi		ENSG00000180828

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36650

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NFJ8 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BHLHE22

Domain mapping of disease mutations (DMDM)

More...DMDMi		74751284

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002742851 – 381Class E basic helix-loop-helix protein 22Add BLAST381

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NFJ8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NFJ8

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

More...PaxDbi		Q8NFJ8

PeptideAtlas

More...PeptideAtlasi		Q8NFJ8

PRoteomics IDEntifications database

More...PRIDEi		Q8NFJ8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		73318

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NFJ8

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

More...PhosphoSitePlusi		Q8NFJ8

<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

Brain-specific, with the highest expression in the cerebellum.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000180828 Expressed in cerebellar vermis and 148 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NFJ8 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000180828 Tissue enriched (brain)

<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 PRDM8.

By similarity

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000318799

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NFJ8 protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8NFJ8

Database of comparative protein structure models

More...ModBasei		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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini242 – 296bHLHPROSITE-ProRule annotationAdd BLAST55

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi56 – 60Poly-Ser5
Compositional biasi72 – 225Gly-richAdd BLAST154
Compositional biasi208 – 234Ser-richAdd BLAST27
Compositional biasi315 – 357Ala-richAdd BLAST43

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3898 Eukaryota
ENOG410ZDH5 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162962

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_070971_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NFJ8

KEGG Orthology (KO)

More...KOi		K09086

Identification of Orthologs from Complete Genome Data

More...OMAi		CKQCTDK

Database of Orthologous Groups

More...OrthoDBi		1617813at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NFJ8

TreeFam database of animal gene trees

More...TreeFami		TF322733

Family and domain databases

Conserved Domains Database

More...CDDi		cd00083 HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011598 bHLH_dom
IPR032654 Bhlhe22
IPR036638 HLH_DNA-bd_sf

The PANTHER Classification System

More...PANTHERi		PTHR19290:SF52 PTHR19290:SF52, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00010 HLH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00353 HLH, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47459 SSF47459, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50888 BHLH, 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%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>Sequencei

<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.

Q8NFJ8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MERGMHLGAA AAGEDDLFLH KSLSASTSKR LEAAFRSTPP GMDLSLAPPP 
        60         70         80         90        100
RERPASSSSS PLGCFEPADP EGAGLLLPPP GGGGGGSAGS GGGGGGGVGV 
       110        120        130        140        150
PGLLVGSAGV GGDPSLSSLP AGAALCLKYG ESASRGSVAE SSGGEQSPDD 
       160        170        180        190        200
DSDGRCELVL RAGVADPRAS PGAGGGGAKA AEGCSNAHLH GGASVPPGGL 
       210        220        230        240        250
GGGGGGGSSS GSSGGGGGSG SGSGGSSSSS SSSSKKSKEQ KALRLNINAR 
       260        270        280        290        300
ERRRMHDLND ALDELRAVIP YAHSPSVRKL SKIATLLLAK NYILMQAQAL 
       310        320        330        340        350
EEMRRLVAYL NQGQAISAAS LPSSAAAAAA AAALHPALGA YEQAAGYPFS 
       360        370        380 
AGLPPAASCP EKCALFNSVS SSLCKQCTEK P
Length:381
Mass (Da):36,997
Last modified:October 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:i7B17A9BD5C7F8569
GO

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_06125528S → A. Corresponds to variant dbSNP:rs7016250Ensembl.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
AF504925 Genomic DNA Translation: AAM28881.1
BK000273 mRNA Translation: DAA01053.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6179.1

NCBI Reference Sequences

More...RefSeqi		NP_689627.1, NM_152414.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000321870; ENSP00000318799; ENSG00000180828

Database of genes from NCBI RefSeq genomes

More...GeneIDi		27319

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:27319

UCSC genome browser

More...UCSCi		uc003xvi.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
AF504925 Genomic DNA Translation: AAM28881.1
BK000273 mRNA Translation: DAA01053.1
CCDSiCCDS6179.1
RefSeqiNP_689627.1, NM_152414.4

3D structure databases

SMRiQ8NFJ8
ModBaseiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000318799

PTM databases

iPTMnetiQ8NFJ8
PhosphoSitePlusiQ8NFJ8

Polymorphism and mutation databases

BioMutaiBHLHE22
DMDMi74751284

Proteomic databases

jPOSTiQ8NFJ8
MassIVEiQ8NFJ8
PaxDbiQ8NFJ8
PeptideAtlasiQ8NFJ8
PRIDEiQ8NFJ8
ProteomicsDBi73318

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		11910 154 antibodies

The DNASU plasmid repository

More...DNASUi		27319

Genome annotation databases

EnsembliENST00000321870; ENSP00000318799; ENSG00000180828
GeneIDi27319
KEGGihsa:27319
UCSCiuc003xvi.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		27319
DisGeNETi27319

GeneCards: human genes, protein and diseases

More...GeneCardsi		BHLHE22
HGNCiHGNC:11963 BHLHE22
HPAiENSG00000180828 Tissue enriched (brain)
MIMi613483 gene
neXtProtiNX_Q8NFJ8
OpenTargetsiENSG00000180828
PharmGKBiPA36650

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3898 Eukaryota
ENOG410ZDH5 LUCA
GeneTreeiENSGT00940000162962
HOGENOMiCLU_070971_0_0_1
InParanoidiQ8NFJ8
KOiK09086
OMAiCKQCTDK
OrthoDBi1617813at2759
PhylomeDBiQ8NFJ8
TreeFamiTF322733

Miscellaneous databases

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

More...GenomeRNAii		27319
PharosiQ8NFJ8 Tbio

Protein Ontology

More...PROi		PR:Q8NFJ8
RNActiQ8NFJ8 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000180828 Expressed in cerebellar vermis and 148 other tissues
GenevisibleiQ8NFJ8 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR032654 Bhlhe22
IPR036638 HLH_DNA-bd_sf
PANTHERiPTHR19290:SF52 PTHR19290:SF52, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

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 nameiBHE22_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: Q8NFJ8
<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: February 6, 2007
Last sequence update: October 1, 2002
Last modified: April 22, 2020
This is version 125 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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