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Entry version 101 (18 Sep 2019)
Sequence version 1 (10 May 2005)
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Protein

OCIA domain-containing protein 2

Gene

OCIAD2

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

Annotation score:2 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 - Biological processi

<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:
OCIA domain-containing protein 2
Alternative name(s):
Ovarian carcinoma immunoreactive antigen-like protein
<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:OCIAD2
<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 4

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:28685 OCIAD2

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q56VL3

<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

Endosome

<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
132299

Open Targets

More...
OpenTargetsi
ENSG00000145247

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA128394755

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
OCIAD2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74741044

<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_00002993921 – 154OCIA domain-containing protein 2Add BLAST154

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 residuei41N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q56VL3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q56VL3

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q56VL3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q56VL3

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

More...
PaxDbi
Q56VL3

PeptideAtlas

More...
PeptideAtlasi
Q56VL3

PRoteomics IDEntifications database

More...
PRIDEi
Q56VL3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
62591 [Q56VL3-1]
62592 [Q56VL3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q56VL3

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

More...
PhosphoSitePlusi
Q56VL3

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q56VL3

<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
ENSG00000145247 Expressed in 195 organ(s), highest expression level in kidney epithelium

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q56VL3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q56VL3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA040979
HPA041090

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
126317, 9 interactors

Protein interaction database and analysis system

More...
IntActi
Q56VL3, 19 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000423014

<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_and_domains_section">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>Domaini1 – 120OCIAAdd BLAST120

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410J13G Eukaryota
ENOG4111YF8 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063690

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q56VL3

Identification of Orthologs from Complete Genome Data

More...
OMAi
WKECQEE

Database of Orthologous Groups

More...
OrthoDBi
1322104at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q56VL3

TreeFam database of animal gene trees

More...
TreeFami
TF327106

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR040187 OCAD1/2
IPR009764 OCIA_dom

The PANTHER Classification System

More...
PANTHERi
PTHR13336 PTHR13336, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07051 OCIA, 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>. 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>Sequences (2+)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 describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q56VL3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MASASARGNQ DKDAHFPPPS KQSLLFCPKS KLHIHRAEIS KIMRECQEES
60 70 80 90 100
FWKRALPFSL VSMLVTQGLV YQGYLAANSR FGSLPKVALA GLLGFGLGKV
110 120 130 140 150
SYIGVCQSKF HFFEDQLRGA GFGPQHNRHC LLTCEECKIK HGLSEKGDSQ

PSAS
Length:154
Mass (Da):16,954
Last modified:May 10, 2005 - 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:iB2278F751BA03A3E
GO
Isoform 2 (identifier: Q56VL3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     89-154: LAGLLGFGLG...EKGDSQPSAS → RTASLPVRNAK

Show »
Length:99
Mass (Da):11,030
Checksum:i7DC87F06B4F35084
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RD77D6RD77_HUMAN
OCIA domain-containing protein 2
OCIAD2
61Annotation 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>
J3KPI9J3KPI9_HUMAN
OCIA domain-containing protein 2
OCIAD2
88Annotation 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_05395044R → Q. Corresponds to variant dbSNP:rs7676916Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_02762689 – 154LAGLL…QPSAS → RTASLPVRNAK in isoform 2. 2 PublicationsAdd BLAST66

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY472117 mRNA Translation: AAS47684.1
AK298305 mRNA Translation: BAG60559.1
CR749310 mRNA Translation: CAH18165.1
CH471069 Genomic DNA Translation: EAW93077.1
CH471069 Genomic DNA Translation: EAW93075.1
BC032808 mRNA Translation: AAH32808.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33981.1 [Q56VL3-1]
CCDS3485.1 [Q56VL3-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001014446.1, NM_001014446.2 [Q56VL3-1]
NP_001273702.1, NM_001286773.1 [Q56VL3-2]
NP_689611.1, NM_152398.3 [Q56VL3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000273860; ENSP00000273860; ENSG00000145247 [Q56VL3-2]
ENST00000508632; ENSP00000423014; ENSG00000145247 [Q56VL3-1]
ENST00000620187; ENSP00000483997; ENSG00000145247 [Q56VL3-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
132299

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:132299

UCSC genome browser

More...
UCSCi
uc003gyt.5 human [Q56VL3-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AY472117 mRNA Translation: AAS47684.1
AK298305 mRNA Translation: BAG60559.1
CR749310 mRNA Translation: CAH18165.1
CH471069 Genomic DNA Translation: EAW93077.1
CH471069 Genomic DNA Translation: EAW93075.1
BC032808 mRNA Translation: AAH32808.1
CCDSiCCDS33981.1 [Q56VL3-1]
CCDS3485.1 [Q56VL3-2]
RefSeqiNP_001014446.1, NM_001014446.2 [Q56VL3-1]
NP_001273702.1, NM_001286773.1 [Q56VL3-2]
NP_689611.1, NM_152398.3 [Q56VL3-2]

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

BioGridi126317, 9 interactors
IntActiQ56VL3, 19 interactors
STRINGi9606.ENSP00000423014

PTM databases

iPTMnetiQ56VL3
PhosphoSitePlusiQ56VL3
SwissPalmiQ56VL3

Polymorphism and mutation databases

BioMutaiOCIAD2
DMDMi74741044

Proteomic databases

EPDiQ56VL3
jPOSTiQ56VL3
MassIVEiQ56VL3
MaxQBiQ56VL3
PaxDbiQ56VL3
PeptideAtlasiQ56VL3
PRIDEiQ56VL3
ProteomicsDBi62591 [Q56VL3-1]
62592 [Q56VL3-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000273860; ENSP00000273860; ENSG00000145247 [Q56VL3-2]
ENST00000508632; ENSP00000423014; ENSG00000145247 [Q56VL3-1]
ENST00000620187; ENSP00000483997; ENSG00000145247 [Q56VL3-2]
GeneIDi132299
KEGGihsa:132299
UCSCiuc003gyt.5 human [Q56VL3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
132299
DisGeNETi132299

GeneCards: human genes, protein and diseases

More...
GeneCardsi
OCIAD2
HGNCiHGNC:28685 OCIAD2
HPAiHPA040979
HPA041090
neXtProtiNX_Q56VL3
OpenTargetsiENSG00000145247
PharmGKBiPA128394755

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410J13G Eukaryota
ENOG4111YF8 LUCA
GeneTreeiENSGT00530000063690
InParanoidiQ56VL3
OMAiWKECQEE
OrthoDBi1322104at2759
PhylomeDBiQ56VL3
TreeFamiTF327106

Miscellaneous databases

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

More...
GenomeRNAii
132299

Pharos

More...
Pharosi
Q56VL3

Protein Ontology

More...
PROi
PR:Q56VL3

Gene expression databases

BgeeiENSG00000145247 Expressed in 195 organ(s), highest expression level in kidney epithelium
ExpressionAtlasiQ56VL3 baseline and differential
GenevisibleiQ56VL3 HS

Family and domain databases

InterProiView protein in InterPro
IPR040187 OCAD1/2
IPR009764 OCIA_dom
PANTHERiPTHR13336 PTHR13336, 1 hit
PfamiView protein in Pfam
PF07051 OCIA, 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 nameiOCAD2_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: Q56VL3
Secondary accession number(s): B4DPE7, Q8N544
<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: September 11, 2007
Last sequence update: May 10, 2005
Last modified: September 18, 2019
This is version 101 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 4
    Human chromosome 4: 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
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