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Protein

FRAS1-related extracellular matrix protein 2

Gene

FREM2

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

Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. May be required for epidermal adhesion.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<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

Molecular functionDevelopmental protein
Biological processCell adhesion
LigandCalcium, Metal-binding

<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:
FRAS1-related extracellular matrix protein 2
Alternative name(s):
ECM3 homolog
<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:FREM2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000150893.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25396 FREM2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608945 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5SZK8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini47 – 3113ExtracellularSequence analysisAdd BLAST3067
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei3114 – 3134HelicalSequence analysisAdd BLAST21
Topological domaini3135 – 3169CytoplasmicSequence analysisAdd BLAST35

Keywords - Cellular componenti

Cell membrane, 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

Fraser syndrome 2 (FRASRS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities.
See also OMIM:617666
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_0232011972E → K in FRASRS2; may impair calcium-binding in the 2nd Calx-beta domain. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
341640

MalaCards human disease database

More...
MalaCardsi
FREM2
MIMi617666 phenotype

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

More...
Orphaneti
98949 Complete cryptophthalmia
2052 Fraser syndrome
93100 Renal agenesis, unilateral

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134930862

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FREM2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
73620903

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 46Sequence analysisAdd BLAST46
<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_000001012447 – 3169FRAS1-related extracellular matrix protein 2Add BLAST3123

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi358N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1244N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1369N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1584N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1741N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5SZK8

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q5SZK8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q5SZK8

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

More...
PaxDbi
Q5SZK8

PeptideAtlas

More...
PeptideAtlasi
Q5SZK8

PRoteomics IDEntifications database

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PRIDEi
Q5SZK8

ProteomicsDB human proteome resource

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ProteomicsDBi
64078
64079 [Q5SZK8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q5SZK8

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

More...
PhosphoSitePlusi
Q5SZK8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000150893 Expressed in 115 organ(s), highest expression level in adrenal tissue

CleanEx database of gene expression profiles

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CleanExi
HS_FREM2

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q5SZK8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA028831

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
131147, 45 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q5SZK8

Protein interaction database and analysis system

More...
IntActi
Q5SZK8, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000280481

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q5SZK8

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

More...
SMRi
Q5SZK8

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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>Repeati319 – 413CSPG 1PROSITE-ProRule annotationAdd BLAST95
Repeati438 – 537CSPG 2PROSITE-ProRule annotationAdd BLAST100
Repeati560 – 675CSPG 3PROSITE-ProRule annotationAdd BLAST116
Repeati700 – 807CSPG 4PROSITE-ProRule annotationAdd BLAST108
Repeati828 – 919CSPG 5PROSITE-ProRule annotationAdd BLAST92
Repeati945 – 1037CSPG 6PROSITE-ProRule annotationAdd BLAST93
Repeati1066 – 1168CSPG 7PROSITE-ProRule annotationAdd BLAST103
Repeati1189 – 1282CSPG 8PROSITE-ProRule annotationAdd BLAST94
Repeati1303 – 1399CSPG 9PROSITE-ProRule annotationAdd BLAST97
Repeati1420 – 1512CSPG 10PROSITE-ProRule annotationAdd BLAST93
Repeati1532 – 1621CSPG 11PROSITE-ProRule annotationAdd BLAST90
Repeati1655 – 1752CSPG 12PROSITE-ProRule annotationAdd BLAST98
<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>Domaini1759 – 1858Calx-beta 1Add BLAST100
Domaini1871 – 1982Calx-beta 2Add BLAST112
Domaini1997 – 2103Calx-beta 3Add BLAST107
Domaini2118 – 2220Calx-beta 4Add BLAST103
Domaini2238 – 2342Calx-beta 5Add BLAST105

<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 Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.By similarity

<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 FRAS1 family.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1306 Eukaryota
KOG2090 Eukaryota
KOG3597 Eukaryota
ENOG410YBR4 LUCA

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG081537

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5SZK8

Database of Orthologous Groups

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OrthoDBi
13258at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q5SZK8

TreeFam database of animal gene trees

More...
TreeFami
TF316876

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.2030, 5 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR038081 CalX-like_sf
IPR003644 Calx_beta
IPR039005 CSPG_rpt

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03160 Calx-beta, 5 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00237 Calx_beta, 5 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF141072 SSF141072, 5 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51854 CSPG, 12 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

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

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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
Isoform 1 (identifier: Q5SZK8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        10         20         30         40         50
MHSAGTPGLS SRRTGNSTSF QPGPPPPPRL LLLLLLLLSL VSRVPAQPAA
60 70 80 90 100
FGRALLSPGL AGAAGVPAEE AIVLANRGLR VPFGREVWLD PLHDLVLQVQ
110 120 130 140 150
PGDRCAVSVL DNDALAQRPG RLSPKRFPCD FGPGEVRYSH LGARSPSRDR
160 170 180 190 200
VRLQLRYDAP GGAVVLPLVL EVEVVFTQLE VVTRNLPLVV EELLGTSNAL
210 220 230 240 250
DARSLEFAFQ PETEECRVGI LSGLGALPRY GELLHYPQVP GGAREGGAPE
260 270 280 290 300
TLLMDCKAFQ ELGVRYRHTA ASRSPNRDWI PMVVELRSRG APVGSPALKR
310 320 330 340 350
EHFQVLVRIR GGAENTAPKP SFVAMMMMEV DQFVLTALTP DMLAAEDAES
360 370 380 390 400
PSDLLIFNLT SPFQPGQGYL VSTDDRSLPL SSFTQRDLRL LKIAYQPPSE
410 420 430 440 450
DSDQERLFEL ELEVVDLEGA ASDPFAFMVV VKPMNTMAPV VTRNTGLILY
460 470 480 490 500
EGQSRPLTGP AGSGPQNLVI SDEDDLEAVR LEVVAGLRHG HLVILGASSG
510 520 530 540 550
SSAPKSFTVA ELAAGQVVYQ HDDRDGSLSD NLVLRMVDGG GRHQVQFLFP
560 570 580 590 600
ITLVPVDDQP PVLNANTGLT LAEGETVPIL PLSLSATDMD SDDSLLLFVL
610 620 630 640 650
ESPFLTTGHL LLRQTHPPHE KQELLRGLWR KEGAFYERTV TEWQQQDITE
660 670 680 690 700
GRLFYRHSGP HSPGPVTDQF TFRVQDNHDP PNQSGLQRFV IRIHPVDRLP
710 720 730 740 750
PELGSGCPLR MVVQESQLTP LRKKWLRYTD LDTDDRELRY TVTQSPTDTD
760 770 780 790 800
ENHLPAPLGT LVLTDNPSVV VTHFTQAQIN HHKIAYRPPG QELGVATRVA
810 820 830 840 850
QFQFQVEDRA GNVAPGTFTL YLHPVDNQPP EILNTGFTIQ EKGHHILSET
860 870 880 890 900
ELHVNDVDTD VAHISFTLTQ APKHGHMRVS GQILHVGGLF HLEDIKQGRV
910 920 930 940 950
SYAHNGDKSL TDSCSLEVSD RHHVVPITLR VNVRPVDDEV PILSHPTGTL
960 970 980 990 1000
ESYLDVLENG ATEITANVIK GTNEETDDLM LTFLLEDPPL YGEILVNGIP
1010 1020 1030 1040 1050
AEQFTQRDIL EGSVVYTHTS GEIGLLPKAD SFNLSLSDMS QEWRIGGNTI
1060 1070 1080 1090 1100
QGVTIWVTIL PVDSQAPEIF VGEQLIVMEG DKSVITSVHI SAEDVDSLND
1110 1120 1130 1140 1150
DILCTIVIQP TSGYVENISP APGSEKSRAG IAISAFNLKD LRQGHINYVQ
1160 1170 1180 1190 1200
SVHKGVEPVE DRFVFRCSDG INFSERQFFP IVIIPTNDEQ PEMFMREFMV
1210 1220 1230 1240 1250
MEGMSLVIDT PILNAADADV PLDDLTFTIT QFPTHGHIMN QLINGTVLVE
1260 1270 1280 1290 1300
SFTLDQIIES SSIIYEHDDS ETQEDSFVIK LTDGKHSVEK TVLIIVIPVD
1310 1320 1330 1340 1350
DETPRMTINN GLEIEIGDTK IINNKILMAT DLDSEDKSLV YIIRYGPGHG
1360 1370 1380 1390 1400
LLQRRKPTGA FENITLGMNF TQDEVDRNLI QYVHLGQEGI RDLIKFDVTD
1410 1420 1430 1440 1450
GINPLIDRYF YVSIGSIDIV FPDVISKGVS LKEGGKVTLT TDLLSTSDLN
1460 1470 1480 1490 1500
SPDENLVFTI TRAPMRGHLE CTDQPGVSIT SFTQLQLAGN KIYYIHTADD
1510 1520 1530 1540 1550
EVKMDSFEFQ VTDGRNPVFR TFRISISDVD NKKPVVTIHK LVVSESENKL
1560 1570 1580 1590 1600
ITPFELTVED RDTPDKLLKF TITQVPIHGH LLFNNTRPVM VFTKQDLNEN
1610 1620 1630 1640 1650
LISYKHDGTE SSEDSFSFTV TDGTHTDFYV FPDTVFETRR PQVMKIQVLA
1660 1670 1680 1690 1700
VDNSVPQIAV NKGASTLRTL ATGHLGFMIT SKILKVEDRD SLHISLRFIV
1710 1720 1730 1740 1750
TEAPQHGYLL NLDKGNHSIT QFTQADIDDM KICYVLREGA NATSDMFYFA
1760 1770 1780 1790 1800
VEDGGGNKLT YQNFRLNWAW ISFEKEYYLV NEDSKFLDVV LKRRGYLGET
1810 1820 1830 1840 1850
SFISIGTRDR TAEKDKDFKG KAQKQVQFNP GQTRATWRVR ILSDGEHEQS
1860 1870 1880 1890 1900
ETFQVVLSEP VLAALEFPTV ATVEIVDPGD EPTVFIPQSK YSVEEDVGEL
1910 1920 1930 1940 1950
FIPIRRSGDV SQELMVVCYT QQGTATGTVP TSVLSYSDYI SRPEDHTSVV
1960 1970 1980 1990 2000
RFDKDEREKL CRIVIIDDSL YEEEETFHVL LSMPMGGRIG SEFPGAQVTI
2010 2020 2030 2040 2050
VPDKDDEPIF YFGDVEYSVD ESAGYVEVQV WRTGTDLSKS SSVTVRSRKT
2060 2070 2080 2090 2100
DPPSADAGTD YVGISRNLDF APGVNMQPVR VVILDDLGQP ALEGIEKFEL
2110 2120 2130 2140 2150
VLRMPMNAAL GEPSKATVSI NDSVSDLPKM QFKERIYTGS ESDGQIVTMI
2160 2170 2180 2190 2200
HRTGDVQYRS SVRCYTRQGS AQVMMDFEER PNTDTSIITF LPGETEKPCI
2210 2220 2230 2240 2250
LELMDDVLYE EVEELRLVLG TPQSNSPFGA AVGEQNETLI RIRDDADKTV
2260 2270 2280 2290 2300
IKFGETKFSV TEPKEPGESV VIRIPVIRQG DTSKVSIVRV HTKDGSATSG
2310 2320 2330 2340 2350
EDYHPVSEEI EFKEGETQHV VEIEVTFDGV REMREAFTVH LKPDENMIAE
2360 2370 2380 2390 2400
MQLTKAIVYI EEMSSMADVT FPSVPQIVSL LMYDDTSKAK ESAEPMSGYP
2410 2420 2430 2440 2450
VICITACNPK YSDYDKTGSI CASENINDTL TRYRWLISAP AGPDGVTSPM
2460 2470 2480 2490 2500
REVDFDTFFT SSKMVTLDSI YFQPGSRVQC AARAVNTNGD EGLELMSPIV
2510 2520 2530 2540 2550
TISREEGLCQ PRVPGVVGAE PFSAKLRYTG PEDADYTNLI KLTVTMPHID
2560 2570 2580 2590 2600
GMLPVISTRE LSNFELTLSP DGTRVGNHKC SNLLDYTEVK THYGFLTDAT
2610 2620 2630 2640 2650
KNPEIIGETY PYQYSLSIRG STTLRFYRNL NLEACLWEFV SYYDMSELLA
2660 2670 2680 2690 2700
DCGGTIGTDG QVLNLVQSYV TLRVPLYVSY VFHSPVGVGG WQHFDLKSEL
2710 2720 2730 2740 2750
RLTFVYDTAI LWNDGIGSPP EAELQGSLYP TSMRIGDEGR LAVHFKTEAQ
2760 2770 2780 2790 2800
FHGLFVLSHP ASFTSSVIMS ADHPGLTFSL RLIRSEPTYN QPVQQWSFVS
2810 2820 2830 2840 2850
DFAVRDYSGT YTVKLVPCTA PSHQEYRLPV TCNPREPVTF DLDIRFQQVS
2860 2870 2880 2890 2900
DPVAAEFSLN TQMYLLSKKS LWLSDGSMGF GQESDVAFAE GDIIYGRVMV
2910 2920 2930 2940 2950
DPVQNLGDSF YCSIEKVFLC TGADGYVPKY SPMNAEYGCL ADSPSLLYRF
2960 2970 2980 2990 3000
KIVDKAQPET QATSFGNVLF NAKLAVDDPE AILLVNQPGS DGFKVDSTPL
3010 3020 3030 3040 3050
FQVALGREWY IHTIYTVRSK DNANRGIGKR SVEYHSLVSQ GKPQSTTKSR
3060 3070 3080 3090 3100
KKREIRSTPS LAWEIGAENS RGTNIQHIAL DRTKRQIPHG RAPPDGILPW
3110 3120 3130 3140 3150
ELNSPSSAVS LVTVVGGTTV GLLTICLTVI AVLMCRGKES FRGKDAPKGS
3160
SSSEPMVPPQ SHHNDSSEV
Length:3,169
Mass (Da):351,157
Last modified:August 16, 2005 - 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:i4000FC02963417F7
GO
Isoform 2 (identifier: Q5SZK8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2663-2667: LNLVQ → QIYNI
     2668-3169: Missing.

Note: No experimental confirmation available.
Show »
Length:2,667
Mass (Da):295,845
Checksum:i9AD8ABD80F89E9F8
GO

<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 BAC87040 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti2030V → A in CAD98088 (PubMed:14702039).Curated1
Sequence conflicti2112E → K in BAC87040 (PubMed:17974005).Curated1
Sequence conflicti2116A → T in BAC87040 (PubMed:17974005).Curated1
Sequence conflicti2359Y → H in CAD98088 (PubMed:14702039).Curated1
Sequence conflicti2508L → P in BAC87040 (PubMed:17974005).Curated1
Sequence conflicti2638E → K in BAC87040 (PubMed:17974005).Curated1
Sequence conflicti2682F → I in CAD98088 (PubMed:14702039).Curated1
Sequence conflicti2777T → S in CAI46253 (PubMed:14702039).Curated1
Sequence conflicti2786E → G in CAD98036 (PubMed:14702039).Curated1
Sequence conflicti2968V → I in CAD98088 (PubMed:14702039).Curated1
Sequence conflicti2968V → I in CAE45813 (PubMed:14702039).Curated1
Sequence conflicti3081D → G in CAD98088 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061174722R → K. Corresponds to variant dbSNP:rs58363253EnsemblClinVar.1
Natural variantiVAR_061175745S → P. Corresponds to variant dbSNP:rs2496423Ensembl.1
Natural variantiVAR_033933770V → M. Corresponds to variant dbSNP:rs7327915EnsemblClinVar.1
Natural variantiVAR_033934868L → V. Corresponds to variant dbSNP:rs7329939EnsemblClinVar.1
Natural variantiVAR_0339351039M → K. Corresponds to variant dbSNP:rs2496424EnsemblClinVar.1
Natural variantiVAR_0375691045I → S. Corresponds to variant dbSNP:rs17058433Ensembl.1
Natural variantiVAR_0339361070F → S. Corresponds to variant dbSNP:rs2496425EnsemblClinVar.1
Natural variantiVAR_0375701668R → H. Corresponds to variant dbSNP:rs1868463EnsemblClinVar.1
Natural variantiVAR_0339371840R → W. Corresponds to variant dbSNP:rs9603422EnsemblClinVar.1
Natural variantiVAR_0232011972E → K in FRASRS2; may impair calcium-binding in the 2nd Calx-beta domain. 1 Publication1
Natural variantiVAR_0232022066R → C1 PublicationCorresponds to variant dbSNP:rs9548505EnsemblClinVar.1
Natural variantiVAR_0232032153T → S1 PublicationCorresponds to variant dbSNP:rs9548506EnsemblClinVar.1
Natural variantiVAR_0232042326T → I2 PublicationsCorresponds to variant dbSNP:rs9548509EnsemblClinVar.1
Natural variantiVAR_0375712962A → V. Corresponds to variant dbSNP:rs7996253EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0150352663 – 2667LNLVQ → QIYNI in isoform 2. 1 Publication5
Alternative sequenceiVSP_0150362668 – 3169Missing in isoform 2. 1 PublicationAdd BLAST502

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
AC017111 Genomic DNA No translation available.
AL354819 Genomic DNA No translation available.
AL590007 Genomic DNA No translation available.
AK127571 mRNA Translation: BAC87040.1 Different initiation.
BX538150 mRNA Translation: CAD98036.1
BX538304 mRNA Translation: CAD98088.1
BX640686 mRNA Translation: CAE45813.1
CR933724 mRNA Translation: CAI46253.1
BN000687 mRNA Translation: CAH56764.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31960.1 [Q5SZK8-1]

NCBI Reference Sequences

More...
RefSeqi
NP_997244.4, NM_207361.5

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.253994

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000280481; ENSP00000280481; ENSG00000150893

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
341640

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:341640

UCSC genome browser

More...
UCSCi
uc001uwv.4 human [Q5SZK8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC017111 Genomic DNA No translation available.
AL354819 Genomic DNA No translation available.
AL590007 Genomic DNA No translation available.
AK127571 mRNA Translation: BAC87040.1 Different initiation.
BX538150 mRNA Translation: CAD98036.1
BX538304 mRNA Translation: CAD98088.1
BX640686 mRNA Translation: CAE45813.1
CR933724 mRNA Translation: CAI46253.1
BN000687 mRNA Translation: CAH56764.1
CCDSiCCDS31960.1 [Q5SZK8-1]
RefSeqiNP_997244.4, NM_207361.5
UniGeneiHs.253994

3D structure databases

ProteinModelPortaliQ5SZK8
SMRiQ5SZK8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131147, 45 interactors
CORUMiQ5SZK8
IntActiQ5SZK8, 1 interactor
STRINGi9606.ENSP00000280481

PTM databases

iPTMnetiQ5SZK8
PhosphoSitePlusiQ5SZK8

Polymorphism and mutation databases

BioMutaiFREM2
DMDMi73620903

Proteomic databases

EPDiQ5SZK8
jPOSTiQ5SZK8
MaxQBiQ5SZK8
PaxDbiQ5SZK8
PeptideAtlasiQ5SZK8
PRIDEiQ5SZK8
ProteomicsDBi64078
64079 [Q5SZK8-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000280481; ENSP00000280481; ENSG00000150893
GeneIDi341640
KEGGihsa:341640
UCSCiuc001uwv.4 human [Q5SZK8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
341640
DisGeNETi341640
EuPathDBiHostDB:ENSG00000150893.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FREM2

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0026558
HGNCiHGNC:25396 FREM2
HPAiHPA028831
MalaCardsiFREM2
MIMi608945 gene
617666 phenotype
neXtProtiNX_Q5SZK8
Orphaneti98949 Complete cryptophthalmia
2052 Fraser syndrome
93100 Renal agenesis, unilateral
PharmGKBiPA134930862

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1306 Eukaryota
KOG2090 Eukaryota
KOG3597 Eukaryota
ENOG410YBR4 LUCA
HOVERGENiHBG081537
InParanoidiQ5SZK8
OrthoDBi13258at2759
PhylomeDBiQ5SZK8
TreeFamiTF316876

Miscellaneous databases

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

More...
ChiTaRSi
FREM2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
FREM2

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

More...
GenomeRNAii
341640

Protein Ontology

More...
PROi
PR:Q5SZK8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000150893 Expressed in 115 organ(s), highest expression level in adrenal tissue
CleanExiHS_FREM2
GenevisibleiQ5SZK8 HS

Family and domain databases

Gene3Di2.60.40.2030, 5 hits
InterProiView protein in InterPro
IPR038081 CalX-like_sf
IPR003644 Calx_beta
IPR039005 CSPG_rpt
PfamiView protein in Pfam
PF03160 Calx-beta, 5 hits
SMARTiView protein in SMART
SM00237 Calx_beta, 5 hits
SUPFAMiSSF141072 SSF141072, 5 hits
PROSITEiView protein in PROSITE
PS51854 CSPG, 12 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFREM2_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: Q5SZK8
Secondary accession number(s): Q4QQG1
, Q5H9N8, Q5T6Q1, Q6N057, Q6ZSB4, Q7Z305, Q7Z341
<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: August 16, 2005
Last sequence update: August 16, 2005
Last modified: January 16, 2019
This is version 134 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  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
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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