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UniProtKB - Q9BXL6 (CAR14_HUMAN)

Entry version 163 (16 Oct 2019)
Sequence version 2 (18 May 2010)
Previous versions | rss
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Protein

Caspase recruitment domain-containing protein 14

Gene

CARD14

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

Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways. Forms a signaling complex with BCL10 and MALT1, and activates MALT1 proteolytic activity and inflammatory gene expression. MALT1 is indispensable for CARD14-induced activation of NF-kappa-B and p38/JNK MAP kinases (PubMed:11278692, PubMed:21302310, PubMed:27113748, PubMed:27071417). May play a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis.4 Publications
Isoform 3: Not able to activate the inflammatory transcription factor NF-kappa-B and may function as a dominant negative regulator (PubMed:21302310, PubMed:26358359).2 Publications

Caution

Supposed to contain a SH3 domain which is not detected by PROSITE, Pfam or SMART.Curated

<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

Biological processApoptosis

<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:
Caspase recruitment domain-containing protein 14
Alternative name(s):
CARD-containing MAGUK protein 2
Short name:
Carma 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CARD14
Synonyms:CARMA2
<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 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_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 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:16446 CARD14

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607211 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BXL6

<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

Cytoplasm

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Psoriasis 2 (PSORS2)5 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis.
Related information in OMIM
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_07858369R → W in PSORS2; reduces NF-kappa-B activation. 1 PublicationCorresponds to variant dbSNP:rs375624435Ensembl.1
Natural variantiVAR_068224117G → S in PSORS2 and PRP; may result in altered splicing of exon 3; increases NF-kappaB transcription factor activity; enhances CBCL10-MALT1-CARD14 complex formation; enhances MALT1 protease activity. 6 PublicationsCorresponds to variant dbSNP:rs281875215EnsemblClinVar.1
Natural variantiVAR_068225138E → A in PSORS2; increases NF-kappaB transcription factor activity; enhances CBCL10-MALT1-CARD14 complex formation; enhances MALT1 protease activity. 4 PublicationsCorresponds to variant dbSNP:rs281875214EnsemblClinVar.1
Natural variantiVAR_068226142E → G in PSORS2; increases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs281875213EnsemblClinVar.1
Natural variantiVAR_068227142E → K in PSORS2; increases NF-kappaB transcription factor activity; enhances MALT1 protease activity. 2 PublicationsCorresponds to variant dbSNP:rs281875212EnsemblClinVar.1
Natural variantiVAR_068228150L → R in PSORS2; increases NF-kappaB transcription factor activity. 2 PublicationsCorresponds to variant dbSNP:rs146214639EnsemblClinVar.1
Natural variantiVAR_078586151R → Q in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs200731780Ensembl.1
Natural variantiVAR_078587151R → W in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs777305616Ensembl.1
Natural variantiVAR_078588197E → K in PSORS2; increases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs200790561EnsemblClinVar.1
Natural variantiVAR_078589209L → P in PSORS2; unknown pathological significance; no effect on NF-kappaB transcription factor activity. 1 Publication1
Natural variantiVAR_078590216A → T in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs574982768Ensembl.1
Natural variantiVAR_078595420T → A in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs762364495Ensembl.1
Natural variantiVAR_078596602S → L in PSORS2; unknown pathological significance; does not change NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs201285077EnsemblClinVar.1
Natural variantiVAR_078597639A → G in PSORS2; unknown pathological significance; does not change NF-kappaB transcription factor activity. 1 Publication1
Pityriasis rubra pilaris (PRP)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare, papulosquamous skin disease characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068224117G → S in PSORS2 and PRP; may result in altered splicing of exon 3; increases NF-kappaB transcription factor activity; enhances CBCL10-MALT1-CARD14 complex formation; enhances MALT1 protease activity. 6 PublicationsCorresponds to variant dbSNP:rs281875215EnsemblClinVar.1
Natural variantiVAR_078584127C → S in PRP. 1 Publication1
Natural variantiVAR_078585136Q → L in PRP. 1 Publication1
Natural variantiVAR_068819138Missing in PRP. 1 Publication1
Natural variantiVAR_068820156L → P in PRP. 1 PublicationCorresponds to variant dbSNP:rs387907240EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		79092

MalaCards human disease database

More...MalaCardsi		CARD14
MIMi173200 phenotype
602723 phenotype

Open Targets

More...OpenTargetsi		ENSG00000141527

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		2897 Pityriasis rubra pilaris

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134959119

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BXL6

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CARD14

Domain mapping of disease mutations (DMDM)

More...DMDMi		296434421

<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_00001440881 – 1004Caspase recruitment domain-containing protein 14Add BLAST1004

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 residuei544PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BXL6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BXL6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BXL6

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

More...PaxDbi		Q9BXL6

PeptideAtlas

More...PeptideAtlasi		Q9BXL6

PRoteomics IDEntifications database

More...PRIDEi		Q9BXL6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		7285
79449 [Q9BXL6-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BXL6

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

More...PhosphoSitePlusi		Q9BXL6

<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

Isoform 1 is detected in placenta and epidermal keratinocytes (PubMed:22521418). Isoform 2 is detected in leukocytes and fetal brain (PubMed:22521418).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000141527 Expressed in 126 organ(s), highest expression level in ectocervix

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BXL6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BXL6 HS

<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 (via CARD domain) with BCL10 (via CARD domain) (PubMed:21302310).

Forms a complex with MALT1 and BCL10; resulting in the formation of a CBM (CARD14-BLC10-MALT1) complex (PubMed:27113748, PubMed:27071417).

Interacts with TRAF2, TRAF3 and TRAF6 (PubMed:21302310).

3 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		122540, 9 interactors

Protein interaction database and analysis system

More...IntActi		Q9BXL6, 7 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000458715

<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		Q9BXL6

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_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>Domaini15 – 107CARDPROSITE-ProRule annotationAdd BLAST93
Domaini568 – 658PDZPROSITE-ProRule annotationAdd BLAST91
Domaini807 – 990Guanylate kinase-likePROSITE-ProRule annotationAdd BLAST184

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni409 – 568Maintains the protein in an inactive state1 PublicationAdd BLAST160

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 coili128 – 409Sequence analysisAdd BLAST282

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

A linker region between the coiled-coil and PDZ region holds the protein in an inactive state (PubMed:27071417).1 Publication

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0708 Eukaryota
COG0194 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160777

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000049174

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BXL6

KEGG Orthology (KO)

More...KOi		K20913

Identification of Orthologs from Complete Genome Data

More...OMAi		YTLVRPH

Database of Orthologous Groups

More...OrthoDBi		188544at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BXL6

TreeFam database of animal gene trees

More...TreeFami		TF315606

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001315 CARD
IPR011029 DEATH-like_dom_sf
IPR008145 GK/Ca_channel_bsu
IPR008144 Guanylate_kin-like_dom
IPR027417 P-loop_NTPase
IPR001478 PDZ
IPR036034 PDZ_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00619 CARD, 1 hit
PF00625 Guanylate_kin, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47986 SSF47986, 1 hit
SSF50156 SSF50156, 1 hit
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50209 CARD, 1 hit
PS50052 GUANYLATE_KINASE_2, 1 hit
PS50106 PDZ, 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 (3+)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 3 <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 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BXL6-1) [UniParc]FASTAAdd to basket
Also known as: CARD14fl1 Publication, CARMA2fl1 Publication

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
MGELCRRDSA LTALDEETLW EMMESHRHRI VRCICPSRLT PYLRQAKVLC 
        60         70         80         90        100
QLDEEEVLHS PRLTNSAMRA GHLLDLLKTR GKNGAIAFLE SLKFHNPDVY 
       110        120        130        140        150
TLVTGLQPDV DFSNFSGLME TSKLTECLAG AIGSLQEELN QEKGQKEVLL 
       160        170        180        190        200
RRCQQLQEHL GLAETRAEGL HQLEADHSRM KREVSAHFHE VLRLKDEMLS 
       210        220        230        240        250
LSLHYSNALQ EKELAASRCR SLQEELYLLK QELQRANMVS SCELELQEQS 
       260        270        280        290        300
LRTASDQESG DEELNRLKEE NEKLRSLTFS LAEKDILEQS LDEARGSRQE 
       310        320        330        340        350
LVERIHSLRE RAVAAERQRE QYWEEKEQTL LQFQKSKMAC QLYREKVNAL 
       360        370        380        390        400
QAQVCELQKE RDQAYSARDS AQREISQSLV EKDSLRRQVF ELTDQVCELR 
       410        420        430        440        450
TQLRQLQAEP PGVLKQEART REPCPREKQR LVRMHAICPR DDSDCSLVSS 
       460        470        480        490        500
TESQLLSDLS ATSSRELVDS FRSSSPAPPS QQSLYKRVAE DFGEEPWSFS 
       510        520        530        540        550
SCLEIPEGDP GALPGAKAGD PHLDYELLDT ADLPQLESSL QPVSPGRLDV 
       560        570        580        590        600
SESGVLMRRR PARRILSQVT MLAFQGDALL EQISVIGGNL TGIFIHRVTP 
       610        620        630        640        650
GSAADQMALR PGTQIVMVDY EASEPLFKAV LEDTTLEEAV GLLRRVDGFC 
       660        670        680        690        700
CLSVKVNTDG YKRLLQDLEA KVATSGDSFY IRVNLAMEGR AKGELQVHCN 
       710        720        730        740        750
EVLHVTDTMF QGCGCWHAHR VNSYTMKDTA AHGTIPNYSR AQQQLIALIQ 
       760        770        780        790        800
DMTQQCTVTR KPSSGGPQKL VRIVSMDKAK ASPLRLSFDR GQLDPSRMEG 
       810        820        830        840        850
SSTCFWAESC LTLVPYTLVR PHRPARPRPV LLVPRAVGKI LSEKLCLLQG 
       860        870        880        890        900
FKKCLAEYLS QEEYEAWSQR GDIIQEGEVS GGRCWVTRHA VESLMEKNTH 
       910        920        930        940        950
ALLDVQLDSV CTLHRMDIFP IVIHVSVNEK MAKKLKKGLQ RLGTSEEQLL 
       960        970        980        990       1000
EAARQEEGDL DRAPCLYSSL APDGWSDLDG LLSCVRQAIA DEQKKVVWTE 

QSPR
Length:1,004
Mass (Da):113,270
Last modified:May 18, 2010 - v2
<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:i761CBAC219956076
GO
Isoform 2 (identifier: Q9BXL6-2) [UniParc]FASTAAdd to basket
Also known as: Short, CARD14sh1 Publication, CARMA2sh1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     741-1004: Missing.

Show »
Length:740
Mass (Da):83,679
Checksum:i90FCA1B1C2DB28D1
GO
Isoform 3 (identifier: Q9BXL6-3) [UniParc]FASTAAdd to basket
Also known as: Cardless, CARD14cardless, CARMA2cl1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-237: Missing.
     619-671: DYEASEPLFK...KRLLQDLEAK → SRARPLLSPG...WADVKRSAHL
     672-1004: Missing.

Show »
Length:434
Mass (Da):48,505
Checksum:iD351699781B6D6EB
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A494C0J4A0A494C0J4_HUMAN
Caspase recruitment domain-containi...
CARD14
854Annotation 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>
I3L414I3L414_HUMAN
Caspase recruitment domain family, ...
CARD14 hCG_28572
493Annotation 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>
A0A494BZY0A0A494BZY0_HUMAN
Caspase recruitment domain-containi...
CARD14
553Annotation 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>
A0A494C199A0A494C199_HUMAN
Caspase recruitment domain-containi...
CARD14
636Annotation 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>
A0A494C1N2A0A494C1N2_HUMAN
Caspase recruitment domain-containi...
CARD14
1,013Annotation 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>
I3L3F1I3L3F1_HUMAN
Caspase recruitment domain-containi...
CARD14
475Annotation 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>
I3L1Z7I3L1Z7_HUMAN
Caspase recruitment domain-containi...
CARD14
70Annotation 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>
A0A3B3ITQ9A0A3B3ITQ9_HUMAN
Caspase recruitment domain-containi...
CARD14
84Annotation 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
Natural variantiVAR_06822238R → C1 PublicationCorresponds to variant dbSNP:rs281875217EnsemblClinVar.1
Natural variantiVAR_06822362R → Q2 PublicationsCorresponds to variant dbSNP:rs115582620EnsemblClinVar.1
Natural variantiVAR_07858369R → W in PSORS2; reduces NF-kappa-B activation. 1 PublicationCorresponds to variant dbSNP:rs375624435Ensembl.1
Natural variantiVAR_068224117G → S in PSORS2 and PRP; may result in altered splicing of exon 3; increases NF-kappaB transcription factor activity; enhances CBCL10-MALT1-CARD14 complex formation; enhances MALT1 protease activity. 6 PublicationsCorresponds to variant dbSNP:rs281875215EnsemblClinVar.1
Natural variantiVAR_078584127C → S in PRP. 1 Publication1
Natural variantiVAR_078585136Q → L in PRP. 1 Publication1
Natural variantiVAR_068225138E → A in PSORS2; increases NF-kappaB transcription factor activity; enhances CBCL10-MALT1-CARD14 complex formation; enhances MALT1 protease activity. 4 PublicationsCorresponds to variant dbSNP:rs281875214EnsemblClinVar.1
Natural variantiVAR_068819138Missing in PRP. 1 Publication1
Natural variantiVAR_068226142E → G in PSORS2; increases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs281875213EnsemblClinVar.1
Natural variantiVAR_068227142E → K in PSORS2; increases NF-kappaB transcription factor activity; enhances MALT1 protease activity. 2 PublicationsCorresponds to variant dbSNP:rs281875212EnsemblClinVar.1
Natural variantiVAR_068228150L → R in PSORS2; increases NF-kappaB transcription factor activity. 2 PublicationsCorresponds to variant dbSNP:rs146214639EnsemblClinVar.1
Natural variantiVAR_078586151R → Q in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs200731780Ensembl.1
Natural variantiVAR_078587151R → W in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs777305616Ensembl.1
Natural variantiVAR_068820156L → P in PRP. 1 PublicationCorresponds to variant dbSNP:rs387907240EnsemblClinVar.1
Natural variantiVAR_068229171H → N May be associated with susceptibility to psoriasis; does not change MALT1 protease activity. 2 PublicationsCorresponds to variant dbSNP:rs281875216EnsemblClinVar.1
Natural variantiVAR_068230176D → H2 PublicationsCorresponds to variant dbSNP:rs144475004EnsemblClinVar.1
Natural variantiVAR_068231179R → H1 PublicationCorresponds to variant dbSNP:rs199517469EnsemblClinVar.1
Natural variantiVAR_068232191V → L1 PublicationCorresponds to variant dbSNP:rs281875218EnsemblClinVar.1
Natural variantiVAR_078588197E → K in PSORS2; increases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs200790561EnsemblClinVar.1
Natural variantiVAR_068233200S → N2 PublicationsCorresponds to variant dbSNP:rs114688446EnsemblClinVar.1
Natural variantiVAR_078589209L → P in PSORS2; unknown pathological significance; no effect on NF-kappaB transcription factor activity. 1 Publication1
Natural variantiVAR_078590216A → T in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs574982768Ensembl.1
Natural variantiVAR_078591218R → C Polymorphism; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs747854314Ensembl.1
Natural variantiVAR_068234285D → G May be associated with susceptibility to psoriasis. 1 PublicationCorresponds to variant dbSNP:rs281875219EnsemblClinVar.1
Natural variantiVAR_078592338M → V Polymorphism; unknown pathological significance; does not change NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs200132496Ensembl.1
Natural variantiVAR_078593350L → P1 PublicationCorresponds to variant dbSNP:rs1412261979Ensembl.1
Natural variantiVAR_078594357L → P1 Publication1
Natural variantiVAR_078595420T → A in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs762364495Ensembl.1
Natural variantiVAR_024401547R → S. Corresponds to variant dbSNP:rs2066964EnsemblClinVar.1
Natural variantiVAR_048608585V → I. Corresponds to variant dbSNP:rs34367357Ensembl.1
Natural variantiVAR_068235593I → N1 PublicationCorresponds to variant dbSNP:rs281875220EnsemblClinVar.1
Natural variantiVAR_078596602S → L in PSORS2; unknown pathological significance; does not change NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs201285077EnsemblClinVar.1
Natural variantiVAR_078597639A → G in PSORS2; unknown pathological significance; does not change NF-kappaB transcription factor activity. 1 Publication1
Natural variantiVAR_068236682R → W1 PublicationCorresponds to variant dbSNP:rs117918077EnsemblClinVar.1
Natural variantiVAR_068237714G → S1 PublicationCorresponds to variant dbSNP:rs151150961EnsemblClinVar.1
Natural variantiVAR_059196820R → W2 PublicationsCorresponds to variant dbSNP:rs11652075EnsemblClinVar.1
Natural variantiVAR_022043883R → H. Corresponds to variant dbSNP:rs2289541EnsemblClinVar.1
Natural variantiVAR_061080962R → Q. Corresponds to variant dbSNP:rs34850974EnsemblClinVar.1
Natural variantiVAR_068238973D → E1 PublicationCorresponds to variant dbSNP:rs144285237EnsemblClinVar.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_0474001 – 237Missing in isoform 3. 2 PublicationsAdd BLAST237
Alternative sequenceiVSP_047401619 – 671DYEAS…DLEAK → SRARPLLSPGLLMGTVAAGG VTQADFTSPRRCRSTLGWAS ALSWADVKRSAHL in isoform 3. 2 PublicationsAdd BLAST53
Alternative sequenceiVSP_047402672 – 1004Missing in isoform 3. 2 PublicationsAdd BLAST333
Alternative sequenceiVSP_047403741 – 1004Missing in isoform 2. 2 PublicationsAdd BLAST264

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
AF322642 mRNA Translation: AAG53403.1
AY032927 mRNA Translation: AAK54453.1
EU652409 mRNA Translation: ACF49506.1
AC087741 Genomic DNA No translation available.
BC018142 mRNA Translation: AAH18142.1
BC001326 mRNA Translation: AAH01326.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11768.1 [Q9BXL6-1]
CCDS58605.1 [Q9BXL6-2]

NCBI Reference Sequences

More...RefSeqi		NP_001244899.1, NM_001257970.1 [Q9BXL6-2]
NP_077015.2, NM_024110.4 [Q9BXL6-1]
NP_438170.1, NM_052819.2 [Q9BXL6-3]
XP_011523514.1, XM_011525212.1
XP_011523515.1, XM_011525213.1 [Q9BXL6-1]
XP_011523517.1, XM_011525215.1
XP_011523518.1, XM_011525216.1 [Q9BXL6-1]
XP_011523519.1, XM_011525217.1 [Q9BXL6-1]
XP_011523520.1, XM_011525218.2 [Q9BXL6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000344227; ENSP00000344549; ENSG00000141527 [Q9BXL6-1]
ENST00000570421; ENSP00000461806; ENSG00000141527 [Q9BXL6-2]
ENST00000573882; ENSP00000458715; ENSG00000141527 [Q9BXL6-1]
ENST00000648509; ENSP00000498071; ENSG00000141527 [Q9BXL6-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79092

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79092

UCSC genome browser

More...UCSCi		uc002jxw.3 human [Q9BXL6-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Caspase recruitment domain family, member 14 (CARD14)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF322642 mRNA Translation: AAG53403.1
AY032927 mRNA Translation: AAK54453.1
EU652409 mRNA Translation: ACF49506.1
AC087741 Genomic DNA No translation available.
BC018142 mRNA Translation: AAH18142.1
BC001326 mRNA Translation: AAH01326.1
CCDSiCCDS11768.1 [Q9BXL6-1]
CCDS58605.1 [Q9BXL6-2]
RefSeqiNP_001244899.1, NM_001257970.1 [Q9BXL6-2]
NP_077015.2, NM_024110.4 [Q9BXL6-1]
NP_438170.1, NM_052819.2 [Q9BXL6-3]
XP_011523514.1, XM_011525212.1
XP_011523515.1, XM_011525213.1 [Q9BXL6-1]
XP_011523517.1, XM_011525215.1
XP_011523518.1, XM_011525216.1 [Q9BXL6-1]
XP_011523519.1, XM_011525217.1 [Q9BXL6-1]
XP_011523520.1, XM_011525218.2 [Q9BXL6-1]

3D structure databases

SMRiQ9BXL6
ModBaseiSearch...

Protein-protein interaction databases

BioGridi122540, 9 interactors
IntActiQ9BXL6, 7 interactors
STRINGi9606.ENSP00000458715

PTM databases

iPTMnetiQ9BXL6
PhosphoSitePlusiQ9BXL6

Polymorphism and mutation databases

BioMutaiCARD14
DMDMi296434421

Proteomic databases

jPOSTiQ9BXL6
MassIVEiQ9BXL6
MaxQBiQ9BXL6
PaxDbiQ9BXL6
PeptideAtlasiQ9BXL6
PRIDEiQ9BXL6
ProteomicsDBi7285
79449 [Q9BXL6-1]

Genome annotation databases

EnsembliENST00000344227; ENSP00000344549; ENSG00000141527 [Q9BXL6-1]
ENST00000570421; ENSP00000461806; ENSG00000141527 [Q9BXL6-2]
ENST00000573882; ENSP00000458715; ENSG00000141527 [Q9BXL6-1]
ENST00000648509; ENSP00000498071; ENSG00000141527 [Q9BXL6-1]
GeneIDi79092
KEGGihsa:79092
UCSCiuc002jxw.3 human [Q9BXL6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79092
DisGeNETi79092

GeneCards: human genes, protein and diseases

More...GeneCardsi		CARD14
HGNCiHGNC:16446 CARD14
MalaCardsiCARD14
MIMi173200 phenotype
602723 phenotype
607211 gene
neXtProtiNX_Q9BXL6
OpenTargetsiENSG00000141527
Orphaneti2897 Pityriasis rubra pilaris
PharmGKBiPA134959119

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0708 Eukaryota
COG0194 LUCA
GeneTreeiENSGT00940000160777
HOGENOMiHOG000049174
InParanoidiQ9BXL6
KOiK20913
OMAiYTLVRPH
OrthoDBi188544at2759
PhylomeDBiQ9BXL6
TreeFamiTF315606

Miscellaneous databases

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

More...ChiTaRSi		CARD14 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CARD14

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

More...GenomeRNAii		79092
PharosiQ9BXL6

Protein Ontology

More...PROi		PR:Q9BXL6

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000141527 Expressed in 126 organ(s), highest expression level in ectocervix
ExpressionAtlasiQ9BXL6 baseline and differential
GenevisibleiQ9BXL6 HS

Family and domain databases

InterProiView protein in InterPro
IPR001315 CARD
IPR011029 DEATH-like_dom_sf
IPR008145 GK/Ca_channel_bsu
IPR008144 Guanylate_kin-like_dom
IPR027417 P-loop_NTPase
IPR001478 PDZ
IPR036034 PDZ_sf
PfamiView protein in Pfam
PF00619 CARD, 1 hit
PF00625 Guanylate_kin, 1 hit
SUPFAMiSSF47986 SSF47986, 1 hit
SSF50156 SSF50156, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50209 CARD, 1 hit
PS50052 GUANYLATE_KINASE_2, 1 hit
PS50106 PDZ, 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 nameiCAR14_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: Q9BXL6
Secondary accession number(s): B8QQJ3, Q9BVB5
<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: January 31, 2002
Last sequence update: May 18, 2010
Last modified: October 16, 2019
This is version 163 of the entry and version 2 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 17
    Human chromosome 17: 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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