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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-Experimental evidence at protein leveli

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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
FRAS1-related extracellular matrix protein 2
Alternative name(s):
ECM3 homolog
Gene namesi
Name:FREM2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:25396. FREM2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini47 – 3113ExtracellularSequence analysisAdd BLAST3067
Transmembranei3114 – 3134HelicalSequence analysisAdd BLAST21
Topological domaini3135 – 3169CytoplasmicSequence analysisAdd BLAST35

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Fraser syndrome (FRASS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMultisystem malformation usually comprising cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects.
See also OMIM:219000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0232011972E → K in FRASS; may impair calcium-binding in the 2nd Calx-beta domain. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi341640.
MalaCardsiFREM2.
MIMi219000. phenotype.
Orphaneti2052. Fraser syndrome.
93100. Unilateral renal agenesis.
PharmGKBiPA134930862.

Polymorphism and mutation databases

BioMutaiFREM2.
DMDMi73620903.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 46Sequence analysisAdd BLAST46
ChainiPRO_000001012447 – 3169FRAS1-related extracellular matrix protein 2Add BLAST3123

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi358N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1244N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1369N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1584N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1741N-linked (GlcNAc...)1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ5SZK8.
MaxQBiQ5SZK8.
PaxDbiQ5SZK8.
PeptideAtlasiQ5SZK8.
PRIDEiQ5SZK8.

PTM databases

iPTMnetiQ5SZK8.
PhosphoSitePlusiQ5SZK8.

Expressioni

Gene expression databases

BgeeiENSG00000150893.
CleanExiHS_FREM2.
GenevisibleiQ5SZK8. HS.

Organism-specific databases

HPAiHPA028831.

Interactioni

Protein-protein interaction databases

BioGridi131147. 25 interactors.
STRINGi9606.ENSP00000280481.

Structurei

3D structure databases

ProteinModelPortaliQ5SZK8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati298 – 419CSPG 1Add BLAST122
Repeati420 – 541CSPG 2Add BLAST122
Repeati542 – 681CSPG 3Add BLAST140
Repeati682 – 811CSPG 4Add BLAST130
Repeati812 – 921CSPG 5Add BLAST110
Repeati922 – 1052CSPG 6Add BLAST131
Repeati1053 – 1171CSPG 7Add BLAST119
Repeati1172 – 1284CSPG 8Add BLAST113
Repeati1285 – 1400CSPG 9Add BLAST116
Repeati1401 – 1514CSPG 10Add BLAST114
Repeati1515 – 1633CSPG 11Add BLAST119
Repeati1634 – 1758CSPG 12Add BLAST125
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

Domaini

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

Sequence similaritiesi

Belongs to the FRAS1 family.Curated
Contains 5 Calx-beta domains.Curated
Contains 12 CSPG (NG2) repeats.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1306. Eukaryota.
KOG2090. Eukaryota.
KOG3597. Eukaryota.
ENOG410YBR4. LUCA.
HOVERGENiHBG081537.
InParanoidiQ5SZK8.
OrthoDBiEOG091G02YT.
PhylomeDBiQ5SZK8.
TreeFamiTF316876.

Family and domain databases

InterProiIPR003644. Calx_beta.
IPR032824. FREM2.
[Graphical view]
PANTHERiPTHR11878:SF32. PTHR11878:SF32. 1 hit.
PfamiPF03160. Calx-beta. 5 hits.
[Graphical view]
SMARTiSM00237. Calx_beta. 5 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 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.

« Hide

        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
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

Sequence cautioni

The sequence BAC87040 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs58363253dbSNPEnsembl.1
Natural variantiVAR_061175745S → P.Corresponds to variant rs2496423dbSNPEnsembl.1
Natural variantiVAR_033933770V → M.Corresponds to variant rs7327915dbSNPEnsembl.1
Natural variantiVAR_033934868L → V.Corresponds to variant rs7329939dbSNPEnsembl.1
Natural variantiVAR_0339351039M → K.Corresponds to variant rs2496424dbSNPEnsembl.1
Natural variantiVAR_0375691045I → S.Corresponds to variant rs17058433dbSNPEnsembl.1
Natural variantiVAR_0339361070F → S.Corresponds to variant rs2496425dbSNPEnsembl.1
Natural variantiVAR_0375701668R → H.Corresponds to variant rs1868463dbSNPEnsembl.1
Natural variantiVAR_0339371840R → W.Corresponds to variant rs9603422dbSNPEnsembl.1
Natural variantiVAR_0232011972E → K in FRASS; may impair calcium-binding in the 2nd Calx-beta domain. 1 Publication1
Natural variantiVAR_0232022066R → C.1 PublicationCorresponds to variant rs9548505dbSNPEnsembl.1
Natural variantiVAR_0232032153T → S.1 PublicationCorresponds to variant rs9548506dbSNPEnsembl.1
Natural variantiVAR_0232042326T → I.2 PublicationsCorresponds to variant rs9548509dbSNPEnsembl.1
Natural variantiVAR_0375712962A → V.Corresponds to variant rs7996253dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
EMBLi
GenBanki
DDBJi
Links Updated
AL354819, AC017111, AL590007 Genomic DNA. Translation: CAI16761.2.
AL590007, AC017111, AL354819 Genomic DNA. Translation: CAI12790.2.
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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL354819, AC017111, AL590007 Genomic DNA. Translation: CAI16761.2.
AL590007, AC017111, AL354819 Genomic DNA. Translation: CAI12790.2.
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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131147. 25 interactors.
STRINGi9606.ENSP00000280481.

PTM databases

iPTMnetiQ5SZK8.
PhosphoSitePlusiQ5SZK8.

Polymorphism and mutation databases

BioMutaiFREM2.
DMDMi73620903.

Proteomic databases

EPDiQ5SZK8.
MaxQBiQ5SZK8.
PaxDbiQ5SZK8.
PeptideAtlasiQ5SZK8.
PRIDEiQ5SZK8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi341640.
DisGeNETi341640.
GeneCardsiFREM2.
H-InvDBHIX0026558.
HGNCiHGNC:25396. FREM2.
HPAiHPA028831.
MalaCardsiFREM2.
MIMi219000. phenotype.
608945. gene.
neXtProtiNX_Q5SZK8.
Orphaneti2052. Fraser syndrome.
93100. Unilateral renal agenesis.
PharmGKBiPA134930862.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1306. Eukaryota.
KOG2090. Eukaryota.
KOG3597. Eukaryota.
ENOG410YBR4. LUCA.
HOVERGENiHBG081537.
InParanoidiQ5SZK8.
OrthoDBiEOG091G02YT.
PhylomeDBiQ5SZK8.
TreeFamiTF316876.

Miscellaneous databases

ChiTaRSiFREM2. human.
GeneWikiiFREM2.
GenomeRNAii341640.
PROiQ5SZK8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000150893.
CleanExiHS_FREM2.
GenevisibleiQ5SZK8. HS.

Family and domain databases

InterProiIPR003644. Calx_beta.
IPR032824. FREM2.
[Graphical view]
PANTHERiPTHR11878:SF32. PTHR11878:SF32. 1 hit.
PfamiPF03160. Calx-beta. 5 hits.
[Graphical view]
SMARTiSM00237. Calx_beta. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFREM2_HUMAN
AccessioniPrimary (citable) accession number: Q5SZK8
Secondary accession number(s): Q4QQG1
, Q5H9N8, Q5T6Q1, Q6N057, Q6ZSB4, Q7Z305, Q7Z341
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: August 16, 2005
Last modified: November 2, 2016
This is version 118 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: 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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.