ARMS2

Functionⁱ

GO - Biological processⁱ

retina homeostasis
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 18511946

View the complete GO annotation on QuickGO ...

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Age-related maculopathy susceptibility protein 2
Gene namesⁱ	Name:ARMS2
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 10

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000254636.1
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:32685 ARMS2
MIMⁱ	611313 gene
neXtProtⁱ	NX_P0C7Q2

Keywords - Cellular componentⁱ

Cytoplasm

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Macular degeneration, age-related, 8 (ARMD8)11 Publications

Disease susceptibility is associated with variations affecting the gene represented in this entry.

Disease descriptionA form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.

Keywords - Diseaseⁱ

Age-related macular degeneration

Organism-specific databases

DisGeNET More...DisGeNETⁱ	387715
MalaCards human disease database More...MalaCardsⁱ	ARMS2
MIMⁱ	613778 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000254636
Orphanetⁱ	279 NON RARE IN EUROPE: Age-related macular degeneration
PharmGKBⁱ	PA162376896

Polymorphism and mutation databases

BioMutaⁱ	ARMS2
DMDMⁱ	193806692

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000342668	1 – 107	Age-related maculopathy susceptibility protein 2Add BLAST		107

Proteomic databases

PaxDbⁱ	P0C7Q2
PRIDEⁱ	P0C7Q2
ProteomicsDBⁱ	52358

Expressionⁱ

Tissue specificityⁱ

Detected in retina and placenta.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000254636 Expressed in 55 organ(s), highest expression level in placenta
CleanExⁱ	HS_ARMS2

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA067225

HPAⁱ

HPA067225

Interactionⁱ

Protein-protein interaction databases

STRINGⁱ	9606.ENSP00000436682

STRINGⁱ

9606.ENSP00000436682

Family & Domainsⁱ

Phylogenomic databases

eggNOGⁱ	ENOG410KCD9 Eukaryota ENOG4110P33 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00650000095054
InParanoidⁱ	P0C7Q2
OMAⁱ	PAAKIHT
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0N7T

Sequenceⁱ

Sequence statusⁱ: Complete.

P0C7Q2-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MLRLYPGPMV TEAEGKGGPE MASLSSSVVP VSFISTLRES VLDPGVGGEG 
        60         70         80         90        100
ASDKQRSKLS LSHSMIPAAK IHTELCLPAF FSPAGTQRRF QQPQHHLTLS 

IIHTAAR

Length:107

Mass (Da):11,437

Last modified:July 1, 2008 - v1

Checksum:ⁱ2F8D3812B5DDF55F

GO

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_044330	3	R → H. Corresponds to variant dbSNP:rs10490923EnsemblClinVar.		1
Natural variantⁱVAR_044331	69	A → S11 PublicationsCorresponds to variant dbSNP:rs10490924EnsemblClinVar.		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	BX842242 Genomic DNA No translation available. BC066349 mRNA No translation available. EU427528 Genomic DNA Translation: ACA35288.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS53585.1
NCBI Reference Sequences More...RefSeqⁱ	NP_001093137.1, NM_001099667.1
UniGeneⁱ	Hs.120359

Genome annotation databases

Ensemblⁱ	ENST00000528446; ENSP00000436682; ENSG00000254636
GeneIDⁱ	387715
KEGGⁱ	hsa:387715
UCSC genome browser More...UCSCⁱ	uc001lgi.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P0C7Q2	ARMS2 isoform 1		PANTR		107	UniRef90_P0C7Q2
Uncharacterized protein		PANPA		107
Age-related maculopathy susceptibility 2		GORGO		106
UPI00029D9487		GORGO		107

Protein	Similar proteins		Species	Score	Length	Source
P0C7Q2	Uncharacterized protein		PANPA		107	UniRef50_P0C7Q2
ARMS2 isoform 1		PANTR		107
Age-related maculopathy susceptibility 2		GORGO		106
Age-related maculopathy susceptibility 2		CERAT		120
Age-related maculopathy susceptibility 2		MACMU		101
+14

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	BX842242 Genomic DNA No translation available. BC066349 mRNA No translation available. EU427528 Genomic DNA Translation: ACA35288.1
CCDSⁱ	CCDS53585.1
RefSeqⁱ	NP_001093137.1, NM_001099667.1
UniGeneⁱ	Hs.120359

3D structure databases

ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

STRINGⁱ	9606.ENSP00000436682

STRINGⁱ

9606.ENSP00000436682

Polymorphism and mutation databases

BioMutaⁱ	ARMS2
DMDMⁱ	193806692

Proteomic databases

PaxDbⁱ	P0C7Q2
PRIDEⁱ	P0C7Q2
ProteomicsDBⁱ	52358

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	387715
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000528446; ENSP00000436682; ENSG00000254636
GeneIDⁱ	387715
KEGGⁱ	hsa:387715
UCSCⁱ	uc001lgi.4 human

Organism-specific databases

CTDⁱ	387715
DisGeNETⁱ	387715
EuPathDBⁱ	HostDB:ENSG00000254636.1
GeneCardsⁱ	ARMS2
HGNCⁱ	HGNC:32685 ARMS2
HPAⁱ	HPA067225
MalaCardsⁱ	ARMS2
MIMⁱ	611313 gene 613778 phenotype
neXtProtⁱ	NX_P0C7Q2
OpenTargetsⁱ	ENSG00000254636
Orphanetⁱ	279 NON RARE IN EUROPE: Age-related macular degeneration
PharmGKBⁱ	PA162376896
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410KCD9 Eukaryota ENOG4110P33 LUCA
GeneTreeⁱ	ENSGT00650000095054
InParanoidⁱ	P0C7Q2
OMAⁱ	PAAKIHT
OrthoDBⁱ	EOG091G0N7T

Miscellaneous databases

GeneWikiⁱ	ARMS2
GenomeRNAiⁱ	387715
Protein Ontology More...PROⁱ	PR:P0C7Q2
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000254636 Expressed in 55 organ(s), highest expression level in placenta
CleanExⁱ	HS_ARMS2

Family and domain databases

ProtoNetⁱ	Search...

ProtoNetⁱ

Search...

Entry informationⁱ

Entry nameⁱ	ARMS2_HUMAN
Accessionⁱ	P0C7Q2Primary (citable) accession number: P0C7Q2 Secondary accession number(s): B2Y7I5
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 1, 2008
	Last sequence update:	July 1, 2008
	Last modified:	November 7, 2018
	This is version 64 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM

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UniProtKB - P0C7Q2 (ARMS2_HUMAN)

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Age-related maculopathy susceptibility protein 2

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<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

Organism-specific databases

<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

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Mitochondrion

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<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

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<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

Proteomic databases

<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

Organism-specific databases

<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

<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

Phylogenomic databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Family & Domainsⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ