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Protein

Coiled-coil domain-containing protein 68

Gene

CCDC68

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

Annotation score:4 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

Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC120, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092).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 - Biological processi

  • intracellular signal transduction Source: GO_Central
  • microtubule anchoring at centrosome Source: GO_Central
  • protein localization Source: GO_Central

<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:
Coiled-coil domain-containing protein 68
Alternative name(s):
Cutaneous T-cell lymphoma-associated antigen se57-1
Short name:
CTCL-associated antigen se57-1
<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:CCDC68
<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 18

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000166510.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24350 CCDC68

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616909 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H2F9

<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, Cytoskeleton

<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
80323

Open Targets

More...
OpenTargetsi
ENSG00000166510

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA143485420

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CCDC68

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74733556

<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_00002646111 – 335Coiled-coil domain-containing protein 68Add BLAST335

Proteomic databases

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

More...
PaxDbi
Q9H2F9

PeptideAtlas

More...
PeptideAtlasi
Q9H2F9

PRoteomics IDEntifications database

More...
PRIDEi
Q9H2F9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
80543

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H2F9

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

More...
PhosphoSitePlusi
Q9H2F9

<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

Expressed in bone marrow, colon, small intestine, spleen, testis, trachea and cutaneous T-cell lymphoma (CTCL).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000166510 Expressed in 152 organ(s), highest expression level in intestine

CleanEx database of gene expression profiles

More...
CleanExi
HS_CCDC68

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H2F9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H2F9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA040865
HPA048197

<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 CEP170 (PubMed:28422092).

<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
TFIP11Q9UBB95EBI-2813327,EBI-1105213

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
123235, 13 interactors

Protein interaction database and analysis system

More...
IntActi
Q9H2F9, 10 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000337209

<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
Q9H2F9

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

More...
SMRi
Q9H2F9

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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili101 – 305Sequence analysisAdd BLAST205

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IGTN Eukaryota
ENOG4111MW9 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063232

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000234846

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG079562

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H2F9

Identification of Orthologs from Complete Genome Data

More...
OMAi
EMDPSCC

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0CI2

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H2F9

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026735 Ccdc68

The PANTHER Classification System

More...
PANTHERi
PTHR23171:SF3 PTHR23171:SF3, 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 1 potential isoform that is computationally mapped.Show allAlign All

Q9H2F9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTTVTVTTEI PPRDKMEDNS ALYESTSAHI IEETEYVKKI RTTLQKIRTQ
60 70 80 90 100
MFKDEIRHDS TNHKLDAKHC GNLQQGSDSE MDPSCCSLDL LMKKIKGKDL
110 120 130 140 150
QLLEMNKENE VLKIKLQASR EAGAAALRNV AQRLFENYQT QSEEVRKKQE
160 170 180 190 200
DSKQLLQVNK LEKEQKLKQH VENLNQVAEK LEEKHSQITE LENLVQRMEK
210 220 230 240 250
EKRTLLERKL SLENKLLQLK SSATYGKSCQ DLQREISILQ EQISHLQFVI
260 270 280 290 300
HSQHQNLRSV IQEMEGLKNN LKEQDKRIEN LREKVNILEA QNKELKTQVA
310 320 330
LSSETPRTKV SKAVSTSELK TEGVSPYLML IRLRK
Length:335
Mass (Da):38,869
Last modified:March 1, 2001 - 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:i2D7C0DFAC964A815
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
K7EN04K7EN04_HUMAN
Coiled-coil domain-containing prote...
CCDC68
203Annotation 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_050762249V → A1 PublicationCorresponds to variant dbSNP:rs34751112Ensembl.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
AF273051 mRNA Translation: AAG34911.1
AK313793 mRNA Translation: BAG36530.1
BC029508 mRNA Translation: AAH29508.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11959.1

NCBI Reference Sequences

More...
RefSeqi
NP_001137301.1, NM_001143829.1
NP_079490.1, NM_025214.2
XP_006722615.1, XM_006722552.3
XP_011524500.1, XM_011526198.2
XP_011524501.1, XM_011526199.2
XP_011524502.1, XM_011526200.2
XP_011524503.1, XM_011526201.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.120790

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000337363; ENSP00000337209; ENSG00000166510
ENST00000432185; ENSP00000413406; ENSG00000166510
ENST00000591504; ENSP00000466690; ENSG00000166510

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
80323

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:80323

UCSC genome browser

More...
UCSCi
uc002lfs.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
AF273051 mRNA Translation: AAG34911.1
AK313793 mRNA Translation: BAG36530.1
BC029508 mRNA Translation: AAH29508.1
CCDSiCCDS11959.1
RefSeqiNP_001137301.1, NM_001143829.1
NP_079490.1, NM_025214.2
XP_006722615.1, XM_006722552.3
XP_011524500.1, XM_011526198.2
XP_011524501.1, XM_011526199.2
XP_011524502.1, XM_011526200.2
XP_011524503.1, XM_011526201.2
UniGeneiHs.120790

3D structure databases

ProteinModelPortaliQ9H2F9
SMRiQ9H2F9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123235, 13 interactors
IntActiQ9H2F9, 10 interactors
STRINGi9606.ENSP00000337209

PTM databases

iPTMnetiQ9H2F9
PhosphoSitePlusiQ9H2F9

Polymorphism and mutation databases

BioMutaiCCDC68
DMDMi74733556

Proteomic databases

PaxDbiQ9H2F9
PeptideAtlasiQ9H2F9
PRIDEiQ9H2F9
ProteomicsDBi80543

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
80323
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337363; ENSP00000337209; ENSG00000166510
ENST00000432185; ENSP00000413406; ENSG00000166510
ENST00000591504; ENSP00000466690; ENSG00000166510
GeneIDi80323
KEGGihsa:80323
UCSCiuc002lfs.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
80323
DisGeNETi80323
EuPathDBiHostDB:ENSG00000166510.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CCDC68
HGNCiHGNC:24350 CCDC68
HPAiHPA040865
HPA048197
MIMi616909 gene
neXtProtiNX_Q9H2F9
OpenTargetsiENSG00000166510
PharmGKBiPA143485420

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGTN Eukaryota
ENOG4111MW9 LUCA
GeneTreeiENSGT00530000063232
HOGENOMiHOG000234846
HOVERGENiHBG079562
InParanoidiQ9H2F9
OMAiEMDPSCC
OrthoDBiEOG091G0CI2
PhylomeDBiQ9H2F9

Miscellaneous databases

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

More...
ChiTaRSi
CCDC68 human

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

More...
GenomeRNAii
80323

Protein Ontology

More...
PROi
PR:Q9H2F9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000166510 Expressed in 152 organ(s), highest expression level in intestine
CleanExiHS_CCDC68
ExpressionAtlasiQ9H2F9 baseline and differential
GenevisibleiQ9H2F9 HS

Family and domain databases

InterProiView protein in InterPro
IPR026735 Ccdc68
PANTHERiPTHR23171:SF3 PTHR23171:SF3, 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 nameiCCD68_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: Q9H2F9
Secondary accession number(s): B2R9I3
<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: December 12, 2006
Last sequence update: March 1, 2001
Last modified: December 5, 2018
This is version 114 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. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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