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UniProtKB - Q6F5E8 (CARL2_HUMAN)

Entry version 129 (25 May 2022)
Sequence version 2 (18 Mar 2008)
Previous versions | rss
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Protein

Capping protein, Arp2/3 and myosin-I linker protein 2

Gene

CARMIL2

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

Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization (PubMed:26466680).

Plays a role in cell protrusion formations; involved in cell polarity, lamellipodial assembly, membrane ruffling and macropinosome formations (PubMed:19846667, PubMed:26578515, PubMed:26466680).

Involved as well in cell migration and invadopodia formation during wound healing (PubMed:19846667, PubMed:26578515, PubMed:26466680).

Required for CD28-mediated stimulation of NF-kappa-B signaling, involved in naive T cells activation, maturation into T memory cells, and differentiation into T helper and T regulatory cells (PubMed:27647349, PubMed:27647348, PubMed:28112205).

6 Publications

<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 ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6F5E8

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q6F5E8

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Capping protein, Arp2/3 and myosin-I linker protein 21 Publication
Alternative name(s):
Capping protein regulator and myosin 1 linker 2Imported
F-actin-uncapping protein RLTPRCurated
Leucine-rich repeat-containing protein 16C
RGD, leucine-rich repeat, tropomodulin and proline-rich-containing protein1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CARMIL2Imported
Synonyms:LRRC16C, RLTPR1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:27089, CARMIL2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610859, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6F5E8

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000159753

<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

<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

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane

<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

Immunodeficiency 58 (IMD58)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive primary immunodeficiency characterized by a variety of infectious diseases, including mycobacterial diseases, mucocutaneous candidiasis, silent but detectable EBV viremia, and staphylococcal diseases. Patients suffer from dermatitis, esophagitis, recurrent skin abscesses and chest infections. Immunologic analysis shows defective T-cell function and deficient CD3/CD28 stimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired.
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_08114950R → T in IMD58; decreased protein expression in patient's cells. 1 PublicationCorresponds to variant dbSNP:rs1567626023EnsemblClinVar.1
Natural variantiVAR_081150372L → R in IMD58; decreased protein expression in patient's leukocytes; no effect on homodimerization. 1 PublicationCorresponds to variant dbSNP:rs1567628757EnsemblClinVar.1
Natural variantiVAR_081151525L → Q in IMD58; decreased protein expression in patient's leukocytes; no effect on homodimerization. 1 PublicationCorresponds to variant dbSNP:rs1567629943EnsemblClinVar.1
Natural variantiVAR_081152639L → H in IMD58. 1 PublicationCorresponds to variant dbSNP:rs775061512EnsemblClinVar.1
Natural variantiVAR_081153853 – 1435Missing in IMD58; no detectable protein expression in patient's leukocytes; no effect on homodimerization. 1 PublicationAdd BLAST583

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1021R → A: Loss of ability to bind heterodimeric capping protein (CP), unable to inhibit the actin-capping activity of CP and to rescue the loss of lamellipodial ruffling, macropinocytosis, cell polarity, and invadopodia-mediated matrix degradation; when associated with A-1023. 1 Publication1
Mutagenesisi1023R → A: Loss of ability to bind heterodimeric capping protein (CP), unable to inhibit the actin-capping activity of CP and to rescue the loss of lamellipodial ruffling, macropinocytosis, cell polarity, and invadopodia-mediated matrix degradation; when associated with A-1021. 1 Publication1
Mutagenesisi1096 – 1106KKLGTLFAFKK → EEEEEEEEEEE: Loss of accumulation at the cell membrane. Does not alter colocalization at vimentin filaments. Alters monopolar cell polarity, increasing the number of leading edges lacking lamellipodia and ruffles. Inhibits cell migration during wound healing. 1 PublicationAdd BLAST11
Mutagenesisi1096 – 1106KKLGTLFAFKK → GGGGGGGGGGG: Loss of accumulation at the cell membrane. Does not alter colocalization at vimentin filaments. Alters monopolar cell polarity, increasing the number of leading edges lacking lamellipodia and ruffles. Inhibits cell migration during wound healing. 1 PublicationAdd BLAST11
Mutagenesisi1096 – 1106Missing : Loss of accumulation at the cell membrane. Does not alter colocalization at vimentin filaments. Alters monopolar cell polarity, increasing the number of leading edges lacking lamellipodia and ruffles. Inhibits cell migration during wound healing. 1 PublicationAdd BLAST11

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		146206

MalaCards human disease database

More...MalaCardsi		CARMIL2
MIMi618131, phenotype

Open Targets

More...OpenTargetsi		ENSG00000159753

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

More...Orphaneti		542301, Combined immunodeficiency due to CARMIL2 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162401371

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6F5E8, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CARMIL2

Domain mapping of disease mutations (DMDM)

More...DMDMi		172045901

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003258171 – 1435Capping protein, Arp2/3 and myosin-I linker protein 2Add BLAST1435

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 residuei991PhosphoserineCombined sources1
Modified residuei993PhosphoserineCombined sources1
Modified residuei1120PhosphoserineBy similarity1
Modified residuei1246PhosphoserineCombined sources1
Modified residuei1303Omega-N-methylarginineBy similarity1
Modified residuei1315PhosphoserineBy similarity1
Modified residuei1420PhosphoserineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6F5E8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6F5E8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6F5E8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6F5E8

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

More...PaxDbi		Q6F5E8

PeptideAtlas

More...PeptideAtlasi		Q6F5E8

PRoteomics IDEntifications database

More...PRIDEi		Q6F5E8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		66290 [Q6F5E8-1]
7286

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q6F5E8, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6F5E8

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q6F5E8

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

More...PhosphoSitePlusi		Q6F5E8

<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 all tissues tested, including thymus, spleen, colon, leukocytes, peripheral blood, skin, skin keratinocytes and skin fibroblasts. Strong expression is detected in naive and memory CD4+ and CD8+ T cells, naive and memory B cells, regulatory T cells and NK cells, whereas it is poorly expressed in monocytes (PubMed:27647349).2 Publications

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in fetal skin.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000159753, Expressed in cerebellar vermis and 159 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6F5E8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6F5E8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000159753, Tissue enhanced (brain, intestine, lymphoid tissue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms homodimers (PubMed:27647349, PubMed:27647348).

Interacts (via C-terminus) with heterodimeric capping protein (CP); the interaction inhibits CP activity and hence promotes actin polymerization at the barbed end of actin filaments (PubMed:26466680).

3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		126970, 15 interactors

Protein interaction database and analysis system

More...IntActi		Q6F5E8, 5 interactors

Molecular INTeraction database

More...MINTi		Q6F5E8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000334958

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6F5E8, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q6F5E8

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

More...SMRi		Q6F5E8

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 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati64 – 88LRR 1Add BLAST25
Repeati89 – 111LRR 2Add BLAST23
Repeati249 – 272LRR 3Add BLAST24
Repeati274 – 297LRR 4Add BLAST24
Repeati303 – 326LRR 5Add BLAST24
Repeati335 – 362LRR 6Add BLAST28
Repeati393 – 423LRR 7Add BLAST31
Repeati429 – 452LRR 8Add BLAST24
Repeati461 – 481LRR 9Add BLAST21
Repeati492 – 514LRR 10Add BLAST23
Repeati519 – 543LRR 11Add BLAST25
Repeati546 – 572LRR 12Add BLAST27
Repeati581 – 604LRR 13Add BLAST24
Repeati608 – 631LRR 14Add BLAST24
Repeati636 – 660LRR 15Add BLAST25
Repeati664 – 687LRR 16Add BLAST24

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>Regioni573 – 667Tropomodulin-likeAdd BLAST95
Regioni965 – 1435DisorderedSequence analysisAdd BLAST471
Regioni1087 – 1114Necessary for localization at the cell membrane1 PublicationAdd BLAST28

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi992 – 1006Pro residuesSequence analysisAdd BLAST15
Compositional biasi1020 – 1034Basic residuesSequence analysisAdd BLAST15
Compositional biasi1059 – 1079Basic and acidic residuesSequence analysisAdd BLAST21
Compositional biasi1187 – 1206Basic and acidic residuesSequence analysisAdd BLAST20
Compositional biasi1230 – 1249Basic and acidic residuesSequence analysisAdd BLAST20
Compositional biasi1257 – 1271Polar residuesSequence analysisAdd BLAST15
Compositional biasi1284 – 1302Polar residuesSequence analysisAdd BLAST19
Compositional biasi1407 – 1421Pro residuesSequence analysisAdd BLAST15

<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

The N-terminal leucine-rich repeat (LRR) domain is necessary for localization to vimentin filaments (PubMed:26466680). The C-terminus is necessary for localization to the cell membrane (PubMed:26578515).2 Publications

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CARMIL family.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4242, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161003

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_003119_3_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6F5E8

Identification of Orthologs from Complete Genome Data

More...OMAi		YIHNWRQ

Database of Orthologous Groups

More...OrthoDBi		208951at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6F5E8

TreeFam database of animal gene trees

More...TreeFami		TF316381

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.29.30, 1 hit
3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029763, CARMIL2
IPR031943, CARMIL_C
IPR041245, CARMIL_PH
IPR001611, Leu-rich_rpt
IPR032675, LRR_dom_sf
IPR011993, PH-like_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR24112:SF32, PTHR24112:SF32, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF17888, Carm_PH, 1 hit
PF16000, CARMIL_C, 1 hit
PF13516, LRR_6, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

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: Q6F5E8-1) [UniParc]FASTAAdd to basket
Also known as: CARMIL2a1 Publication

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MAQTPDGISC ELRGEITRFL WPKEVELLLK TWLPGEGAVQ NHVLALLRWR 
        60         70         80         90        100
AYLLHTTCLP LRVDCTFSYL EVQAMALQET PPQVTFELES LRELVLEFPG 
       110        120        130        140        150
VAALEQLAQH VAAAIKKVFP RSTLGKLFRR PTPASMLARL ERSSPSESTD 
       160        170        180        190        200
PCSPCGGFLE TYEALCDYNG FPFREEIQWD VDTIYHRQGC RHFSLGDFSH 
       210        220        230        240        250
LGSRDLALSV AALSYNLWFR CLSCVDMKLS LEVSEQILHM MSQSSHLEEL 
       260        270        280        290        300
VLETCSLRGD FVRRLAQALA GHSSSGLREL SLAGNLLDDR GMTALSRHLE 
       310        320        330        340        350
RCPGALRRLS LAQTGLTPRG MRALGRALAT NAAFDSTLTH LDLSGNPGAL 
       360        370        380        390        400
GASEDSGGLY SFLSRPNVLS FLNLAGTDTA LDTVRGCSVG GWMTGRADWR 
       410        420        430        440        450
AGRGGLGPPA GVANSLPPQL FAAVSRGCCT SLTHLDASRN VFSRTKSRAA 
       460        470        480        490        500
PAALQLFLSR ARTLRHLGLA GCKLPPDALR ALLDGLALNT HLRDLHLDLS 
       510        520        530        540        550
ACELRSAGAQ VIQDLVCDAG AVSSLDLADN GFGSDMVTLV LAIGRSRSLR 
       560        570        580        590        600
HVALGRNFNV RCKETLDDVL HRIVQLMQDD DCPLQSLSVA ESRLKLGASV 
       610        620        630        640        650
LLRALATNPN LTALDISGNA MGDAGAKLLA KALRVNSRLR SVVWDRNHTS 
       660        670        680        690        700
ALGLLDVAQA LEQNHSLKAM PLPLNDVAQA QRSRPELTAR AVHQIQACLL 
       710        720        730        740        750
RNNRADPASS DHTTRLQPLG LVSDPSEQEV NELCQSVQEH VELLGCGAGP 
       760        770        780        790        800
QGEAAVRQAE DAIQNANFSL SILPILYEAG SSPSHHWQLG QKLEGLLRQV 
       810        820        830        840        850
GEVCRQDIQD FTQATLDTAR SLCPQMLQGS SWREQLEGVL AGSRGLPELL 
       860        870        880        890        900
PEQLLQDAFT RLRDMRLSIT GTLAESIVAQ ALAGLSAARD QLVESLAQQA 
       910        920        930        940        950
TVTMPPALPA PDGGEPSLLE PGELEGLFFP EEKEEEKEKD DSPPQKWPEL 
       960        970        980        990       1000
SHGLHLVPFI HSAAEEAEPE PELAAPGEDA EPQAGPSARG SPSPAAPGPP 
      1010       1020       1030       1040       1050
AGPLPRMDLP LAGQPLRHPT RARPRPRRQH HHRPPPGGPQ VPPALPQEGN 
      1060       1070       1080       1090       1100
GLSARVDEGV EEFFSKRLIQ QDRLWAPEED PATEGGATPV PRTLRKKLGT 
      1110       1120       1130       1140       1150
LFAFKKPRST RGPRTDLETS PGAAPRTRKT TFGDLLRPPT RPSRGEELGG 
      1160       1170       1180       1190       1200
AEGDTSSPDP AGRSRPRYTR DSKAYSMILL PAEEEATLGA RPDKRRPLER 
      1210       1220       1230       1240       1250
GETELAPSFE QRVQVMLQRI GVSRGSGGAE GKRKQSKDGE IKKAGSDGDI 
      1260       1270       1280       1290       1300
MDSSTEAPPI SIKSRTHSVS ADPSCRPGPG SQGPESATWK TLGQQLNAEL 
      1310       1320       1330       1340       1350
RSRGWGQQDG PGPPSPGQSP SPCRTSPSPD SLGLPEDPCL GPRNEDGQLR 
      1360       1370       1380       1390       1400
PRPLSAGRRA VSVHEDQLQA PAERPLRLQR SPVLKRRPKL EAPPSPSLGS 
      1410       1420       1430 
GLGTEPLPPQ PTEPSSPERS PPSPATDQRG GGPNP
Length:1,435
Mass (Da):154,689
Last modified:March 18, 2008 - 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:iB0D452CE375436A5
GO
Isoform 2 (identifier: Q6F5E8-2) [UniParc]FASTAAdd to basket
Also known as: CARMIL2b1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     384-419: Missing.
     1346-1372: Missing.

Show »
Length:1,372
Mass (Da):148,208
Checksum:i00F54C84A1D25869
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
R4GMZ7R4GMZ7_HUMAN
Capping protein, Arp2/3 and myosin-...
CARMIL2
124Annotation 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>
R4GNC4R4GNC4_HUMAN
Capping protein, Arp2/3 and myosin-...
CARMIL2
55Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAD26751 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08114950R → T in IMD58; decreased protein expression in patient's cells. 1 PublicationCorresponds to variant dbSNP:rs1567626023EnsemblClinVar.1
Natural variantiVAR_081150372L → R in IMD58; decreased protein expression in patient's leukocytes; no effect on homodimerization. 1 PublicationCorresponds to variant dbSNP:rs1567628757EnsemblClinVar.1
Natural variantiVAR_081151525L → Q in IMD58; decreased protein expression in patient's leukocytes; no effect on homodimerization. 1 PublicationCorresponds to variant dbSNP:rs1567629943EnsemblClinVar.1
Natural variantiVAR_081152639L → H in IMD58. 1 PublicationCorresponds to variant dbSNP:rs775061512EnsemblClinVar.1
Natural variantiVAR_081153853 – 1435Missing in IMD58; no detectable protein expression in patient's leukocytes; no effect on homodimerization. 1 PublicationAdd BLAST583

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_047857384 – 419Missing in isoform 2. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_0478581346 – 1372Missing in isoform 2. 1 PublicationAdd BLAST27

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
AB113647 mRNA Translation: BAD26751.1 Different initiation.
FJ026014 mRNA Translation: ACI49710.1
AC009095 Genomic DNA No translation available.
AC010530 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS45513.1 [Q6F5E8-1]
CCDS81998.1 [Q6F5E8-2]

NCBI Reference Sequences

More...RefSeqi		NP_001013860.1, NM_001013838.1 [Q6F5E8-1]
NP_001303955.1, NM_001317026.1 [Q6F5E8-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000334583.11; ENSP00000334958.5; ENSG00000159753.14
ENST00000545661.5; ENSP00000441481.1; ENSG00000159753.14 [Q6F5E8-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		146206

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:146206

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000334583.11; ENSP00000334958.5; NM_001013838.3; NP_001013860.1

UCSC genome browser

More...UCSCi		uc002etn.4, human [Q6F5E8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AB113647 mRNA Translation: BAD26751.1 Different initiation.
FJ026014 mRNA Translation: ACI49710.1
AC009095 Genomic DNA No translation available.
AC010530 Genomic DNA No translation available.
CCDSiCCDS45513.1 [Q6F5E8-1]
CCDS81998.1 [Q6F5E8-2]
RefSeqiNP_001013860.1, NM_001013838.1 [Q6F5E8-1]
NP_001303955.1, NM_001317026.1 [Q6F5E8-2]

3D structure databases

AlphaFoldDBiQ6F5E8
SMRiQ6F5E8
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi126970, 15 interactors
IntActiQ6F5E8, 5 interactors
MINTiQ6F5E8
STRINGi9606.ENSP00000334958

PTM databases

GlyGeniQ6F5E8, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ6F5E8
MetOSiteiQ6F5E8
PhosphoSitePlusiQ6F5E8

Genetic variation databases

BioMutaiCARMIL2
DMDMi172045901

Proteomic databases

EPDiQ6F5E8
jPOSTiQ6F5E8
MassIVEiQ6F5E8
MaxQBiQ6F5E8
PaxDbiQ6F5E8
PeptideAtlasiQ6F5E8
PRIDEiQ6F5E8
ProteomicsDBi66290 [Q6F5E8-1]
7286

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		49241, 53 antibodies from 12 providers

The DNASU plasmid repository

More...DNASUi		146206

Genome annotation databases

EnsembliENST00000334583.11; ENSP00000334958.5; ENSG00000159753.14
ENST00000545661.5; ENSP00000441481.1; ENSG00000159753.14 [Q6F5E8-2]
GeneIDi146206
KEGGihsa:146206
MANE-SelectiENST00000334583.11; ENSP00000334958.5; NM_001013838.3; NP_001013860.1
UCSCiuc002etn.4, human [Q6F5E8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		146206
DisGeNETi146206

GeneCards: human genes, protein and diseases

More...GeneCardsi		CARMIL2
HGNCiHGNC:27089, CARMIL2
HPAiENSG00000159753, Tissue enhanced (brain, intestine, lymphoid tissue)
MalaCardsiCARMIL2
MIMi610859, gene
618131, phenotype
neXtProtiNX_Q6F5E8
OpenTargetsiENSG00000159753
Orphaneti542301, Combined immunodeficiency due to CARMIL2 deficiency
PharmGKBiPA162401371
VEuPathDBiHostDB:ENSG00000159753

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4242, Eukaryota
GeneTreeiENSGT00940000161003
HOGENOMiCLU_003119_3_1_1
InParanoidiQ6F5E8
OMAiYIHNWRQ
OrthoDBi208951at2759
PhylomeDBiQ6F5E8
TreeFamiTF316381

Enzyme and pathway databases

PathwayCommonsiQ6F5E8
SignaLinkiQ6F5E8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		146206, 9 hits in 1012 CRISPR screens

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

More...ChiTaRSi		CARMIL2, human

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

More...GenomeRNAii		146206
PharosiQ6F5E8, Tbio

Protein Ontology

More...PROi		PR:Q6F5E8
RNActiQ6F5E8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000159753, Expressed in cerebellar vermis and 159 other tissues
ExpressionAtlasiQ6F5E8, baseline and differential
GenevisibleiQ6F5E8, HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR029763, CARMIL2
IPR031943, CARMIL_C
IPR041245, CARMIL_PH
IPR001611, Leu-rich_rpt
IPR032675, LRR_dom_sf
IPR011993, PH-like_dom_sf
PANTHERiPTHR24112:SF32, PTHR24112:SF32, 1 hit
PfamiView protein in Pfam
PF17888, Carm_PH, 1 hit
PF16000, CARMIL_C, 1 hit
PF13516, LRR_6, 2 hits

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 nameiCARL2_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: Q6F5E8
Secondary accession number(s): B8X2Z3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: May 25, 2022
This is version 129 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

Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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