Q5SZK8 (FREM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
FRAS1-related extracellular matrix protein 2

Alternative name(s):
ECM3 homolog

Gene names

Name:

FREM2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	3169 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.5
Subcellular location	Cell membrane; Single-pass type I membrane protein; Extracellular side Potential.
Domain	The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding By similarity.
Involvement in disease	Fraser syndrome (FRASS) [MIM:219000]: Multisystem malformation usually comprising cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5
Sequence similarities	Belongs to the FRAS1 family. Contains 5 Calx-beta domains. Contains 12 CSPG (NG2) repeats.
Sequence caution	The sequence BAC87040.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Repeat Signal Transmembrane Transmembrane helix
Ligand	Calcium Metal-binding
Molecular function	Developmental protein
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell communication Inferred from electronic annotation. Source: InterPro homophilic cell adhesion Inferred from electronic annotation. Source: InterPro inner ear development Inferred from electronic annotation. Source: Compara morphogenesis of an epithelium Inferred from electronic annotation. Source: Compara
Cellular_component	basement membrane Inferred from electronic annotation. Source: Compara integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5SZK8-1)

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.

Isoform 2 (identifier: Q5SZK8-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 46	46	Potential
	Chain	47 – 3169	3123	FRAS1-related extracellular matrix protein 2		PRO_0000010124
Regions
	Topological domain	47 – 3113	3067	Extracellular Potential
	Transmembrane	3114 – 3134	21	Helical; Potential
	Topological domain	3135 – 3169	35	Cytoplasmic Potential
	Repeat	298 – 419	122	CSPG 1
	Repeat	420 – 541	122	CSPG 2
	Repeat	542 – 681	140	CSPG 3
	Repeat	682 – 811	130	CSPG 4
	Repeat	812 – 921	110	CSPG 5
	Repeat	922 – 1052	131	CSPG 6
	Repeat	1053 – 1171	119	CSPG 7
	Repeat	1172 – 1284	113	CSPG 8
	Repeat	1285 – 1400	116	CSPG 9
	Repeat	1401 – 1514	114	CSPG 10
	Repeat	1515 – 1633	119	CSPG 11
	Repeat	1634 – 1758	125	CSPG 12
	Domain	1759 – 1858	100	Calx-beta 1
	Domain	1871 – 1982	112	Calx-beta 2
	Domain	1997 – 2103	107	Calx-beta 3
	Domain	2118 – 2220	103	Calx-beta 4
	Domain	2238 – 2342	105	Calx-beta 5
Amino acid modifications
	Glycosylation	358	1	N-linked (GlcNAc...) Potential
	Glycosylation	1244	1	N-linked (GlcNAc...) Potential
	Glycosylation	1369	1	N-linked (GlcNAc...) Potential
	Glycosylation	1584	1	N-linked (GlcNAc...) Potential
	Glycosylation	1741	1	N-linked (GlcNAc...) Ref.4
Natural variations
	Alternative sequence	2663 – 2667	5	LNLVQ → QIYNI in isoform 2.		VSP_015035
	Alternative sequence	2668 – 3169	502	Missing in isoform 2.		VSP_015036
	Natural variant	722	1	R → K. Corresponds to variant rs58363253 [ dbSNP | Ensembl ].		VAR_061174
	Natural variant	745	1	S → P. Corresponds to variant rs2496423 [ dbSNP | Ensembl ].		VAR_061175
	Natural variant	770	1	V → M. Corresponds to variant rs7327915 [ dbSNP | Ensembl ].		VAR_033933
	Natural variant	868	1	L → V. Corresponds to variant rs7329939 [ dbSNP | Ensembl ].		VAR_033934
	Natural variant	1039	1	M → K. Corresponds to variant rs2496424 [ dbSNP | Ensembl ].		VAR_033935
	Natural variant	1045	1	I → S. Corresponds to variant rs17058433 [ dbSNP | Ensembl ].		VAR_037569
	Natural variant	1070	1	F → S. Corresponds to variant rs2496425 [ dbSNP | Ensembl ].		VAR_033936
	Natural variant	1668	1	R → H. Corresponds to variant rs1868463 [ dbSNP | Ensembl ].		VAR_037570
	Natural variant	1840	1	R → W. Corresponds to variant rs9603422 [ dbSNP | Ensembl ].		VAR_033937
	Natural variant	1972	1	E → K in FRASS; may impair calcium-binding in the 2nd Calx-beta domain. Ref.5		VAR_023201
	Natural variant	2066	1	R → C. Ref.3 Corresponds to variant rs9548505 [ dbSNP | Ensembl ].		VAR_023202
	Natural variant	2153	1	T → S. Ref.3 Corresponds to variant rs9548506 [ dbSNP | Ensembl ].		VAR_023203
	Natural variant	2326	1	T → I. Ref.2 Ref.3 Corresponds to variant rs9548509 [ dbSNP | Ensembl ].		VAR_023204
	Natural variant	2962	1	A → V. Corresponds to variant rs7996253 [ dbSNP | Ensembl ].		VAR_037571
Experimental info
	Sequence conflict	2030	1	V → A in CAD98088. Ref.2
	Sequence conflict	2112	1	E → K in BAC87040. Ref.3
	Sequence conflict	2116	1	A → T in BAC87040. Ref.3
	Sequence conflict	2359	1	Y → H in CAD98088. Ref.2
	Sequence conflict	2508	1	L → P in BAC87040. Ref.3
	Sequence conflict	2638	1	E → K in BAC87040. Ref.3
	Sequence conflict	2682	1	F → I in CAD98088. Ref.2
	Sequence conflict	2777	1	T → S in CAI46253. Ref.2
	Sequence conflict	2786	1	E → G in CAD98036. Ref.2
	Sequence conflict	2968	1	V → I in CAD98088. Ref.2
	Sequence conflict	2968	1	V → I in CAE45813. Ref.2
	Sequence conflict	3081	1	D → G in CAD98088. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 16, 2005. Version 2. Checksum: 4000FC02963417F7	FASTA	3,169	351,157
	10 20 30 40 50 60 MHSAGTPGLS SRRTGNSTSF QPGPPPPPRL LLLLLLLLSL VSRVPAQPAA FGRALLSPGL 70 80 90 100 110 120 AGAAGVPAEE AIVLANRGLR VPFGREVWLD PLHDLVLQVQ PGDRCAVSVL DNDALAQRPG 130 140 150 160 170 180 RLSPKRFPCD FGPGEVRYSH LGARSPSRDR VRLQLRYDAP GGAVVLPLVL EVEVVFTQLE 190 200 210 220 230 240 VVTRNLPLVV EELLGTSNAL DARSLEFAFQ PETEECRVGI LSGLGALPRY GELLHYPQVP 250 260 270 280 290 300 GGAREGGAPE TLLMDCKAFQ ELGVRYRHTA ASRSPNRDWI PMVVELRSRG APVGSPALKR 310 320 330 340 350 360 EHFQVLVRIR GGAENTAPKP SFVAMMMMEV DQFVLTALTP DMLAAEDAES PSDLLIFNLT 370 380 390 400 410 420 SPFQPGQGYL VSTDDRSLPL SSFTQRDLRL LKIAYQPPSE DSDQERLFEL ELEVVDLEGA 430 440 450 460 470 480 ASDPFAFMVV VKPMNTMAPV VTRNTGLILY EGQSRPLTGP AGSGPQNLVI SDEDDLEAVR 490 500 510 520 530 540 LEVVAGLRHG HLVILGASSG SSAPKSFTVA ELAAGQVVYQ HDDRDGSLSD NLVLRMVDGG 550 560 570 580 590 600 GRHQVQFLFP ITLVPVDDQP PVLNANTGLT LAEGETVPIL PLSLSATDMD SDDSLLLFVL 610 620 630 640 650 660 ESPFLTTGHL LLRQTHPPHE KQELLRGLWR KEGAFYERTV TEWQQQDITE GRLFYRHSGP 670 680 690 700 710 720 HSPGPVTDQF TFRVQDNHDP PNQSGLQRFV IRIHPVDRLP PELGSGCPLR MVVQESQLTP 730 740 750 760 770 780 LRKKWLRYTD LDTDDRELRY TVTQSPTDTD ENHLPAPLGT LVLTDNPSVV VTHFTQAQIN 790 800 810 820 830 840 HHKIAYRPPG QELGVATRVA QFQFQVEDRA GNVAPGTFTL YLHPVDNQPP EILNTGFTIQ 850 860 870 880 890 900 EKGHHILSET ELHVNDVDTD VAHISFTLTQ APKHGHMRVS GQILHVGGLF HLEDIKQGRV 910 920 930 940 950 960 SYAHNGDKSL TDSCSLEVSD RHHVVPITLR VNVRPVDDEV PILSHPTGTL ESYLDVLENG 970 980 990 1000 1010 1020 ATEITANVIK GTNEETDDLM LTFLLEDPPL YGEILVNGIP AEQFTQRDIL EGSVVYTHTS 1030 1040 1050 1060 1070 1080 GEIGLLPKAD SFNLSLSDMS QEWRIGGNTI QGVTIWVTIL PVDSQAPEIF VGEQLIVMEG 1090 1100 1110 1120 1130 1140 DKSVITSVHI SAEDVDSLND DILCTIVIQP TSGYVENISP APGSEKSRAG IAISAFNLKD 1150 1160 1170 1180 1190 1200 LRQGHINYVQ SVHKGVEPVE DRFVFRCSDG INFSERQFFP IVIIPTNDEQ PEMFMREFMV 1210 1220 1230 1240 1250 1260 MEGMSLVIDT PILNAADADV PLDDLTFTIT QFPTHGHIMN QLINGTVLVE SFTLDQIIES 1270 1280 1290 1300 1310 1320 SSIIYEHDDS ETQEDSFVIK LTDGKHSVEK TVLIIVIPVD DETPRMTINN GLEIEIGDTK 1330 1340 1350 1360 1370 1380 IINNKILMAT DLDSEDKSLV YIIRYGPGHG LLQRRKPTGA FENITLGMNF TQDEVDRNLI 1390 1400 1410 1420 1430 1440 QYVHLGQEGI RDLIKFDVTD GINPLIDRYF YVSIGSIDIV FPDVISKGVS LKEGGKVTLT 1450 1460 1470 1480 1490 1500 TDLLSTSDLN SPDENLVFTI TRAPMRGHLE CTDQPGVSIT SFTQLQLAGN KIYYIHTADD 1510 1520 1530 1540 1550 1560 EVKMDSFEFQ VTDGRNPVFR TFRISISDVD NKKPVVTIHK LVVSESENKL ITPFELTVED 1570 1580 1590 1600 1610 1620 RDTPDKLLKF TITQVPIHGH LLFNNTRPVM VFTKQDLNEN LISYKHDGTE SSEDSFSFTV 1630 1640 1650 1660 1670 1680 TDGTHTDFYV FPDTVFETRR PQVMKIQVLA VDNSVPQIAV NKGASTLRTL ATGHLGFMIT 1690 1700 1710 1720 1730 1740 SKILKVEDRD SLHISLRFIV TEAPQHGYLL NLDKGNHSIT QFTQADIDDM KICYVLREGA 1750 1760 1770 1780 1790 1800 NATSDMFYFA VEDGGGNKLT YQNFRLNWAW ISFEKEYYLV NEDSKFLDVV LKRRGYLGET 1810 1820 1830 1840 1850 1860 SFISIGTRDR TAEKDKDFKG KAQKQVQFNP GQTRATWRVR ILSDGEHEQS ETFQVVLSEP 1870 1880 1890 1900 1910 1920 VLAALEFPTV ATVEIVDPGD EPTVFIPQSK YSVEEDVGEL FIPIRRSGDV SQELMVVCYT 1930 1940 1950 1960 1970 1980 QQGTATGTVP TSVLSYSDYI SRPEDHTSVV RFDKDEREKL CRIVIIDDSL YEEEETFHVL 1990 2000 2010 2020 2030 2040 LSMPMGGRIG SEFPGAQVTI VPDKDDEPIF YFGDVEYSVD ESAGYVEVQV WRTGTDLSKS 2050 2060 2070 2080 2090 2100 SSVTVRSRKT DPPSADAGTD YVGISRNLDF APGVNMQPVR VVILDDLGQP ALEGIEKFEL 2110 2120 2130 2140 2150 2160 VLRMPMNAAL GEPSKATVSI NDSVSDLPKM QFKERIYTGS ESDGQIVTMI HRTGDVQYRS 2170 2180 2190 2200 2210 2220 SVRCYTRQGS AQVMMDFEER PNTDTSIITF LPGETEKPCI LELMDDVLYE EVEELRLVLG 2230 2240 2250 2260 2270 2280 TPQSNSPFGA AVGEQNETLI RIRDDADKTV IKFGETKFSV TEPKEPGESV VIRIPVIRQG 2290 2300 2310 2320 2330 2340 DTSKVSIVRV HTKDGSATSG EDYHPVSEEI EFKEGETQHV VEIEVTFDGV REMREAFTVH 2350 2360 2370 2380 2390 2400 LKPDENMIAE MQLTKAIVYI EEMSSMADVT FPSVPQIVSL LMYDDTSKAK ESAEPMSGYP 2410 2420 2430 2440 2450 2460 VICITACNPK YSDYDKTGSI CASENINDTL TRYRWLISAP AGPDGVTSPM REVDFDTFFT 2470 2480 2490 2500 2510 2520 SSKMVTLDSI YFQPGSRVQC AARAVNTNGD EGLELMSPIV TISREEGLCQ PRVPGVVGAE 2530 2540 2550 2560 2570 2580 PFSAKLRYTG PEDADYTNLI KLTVTMPHID GMLPVISTRE LSNFELTLSP DGTRVGNHKC 2590 2600 2610 2620 2630 2640 SNLLDYTEVK THYGFLTDAT KNPEIIGETY PYQYSLSIRG STTLRFYRNL NLEACLWEFV 2650 2660 2670 2680 2690 2700 SYYDMSELLA DCGGTIGTDG QVLNLVQSYV TLRVPLYVSY VFHSPVGVGG WQHFDLKSEL 2710 2720 2730 2740 2750 2760 RLTFVYDTAI LWNDGIGSPP EAELQGSLYP TSMRIGDEGR LAVHFKTEAQ FHGLFVLSHP 2770 2780 2790 2800 2810 2820 ASFTSSVIMS ADHPGLTFSL RLIRSEPTYN QPVQQWSFVS DFAVRDYSGT YTVKLVPCTA 2830 2840 2850 2860 2870 2880 PSHQEYRLPV TCNPREPVTF DLDIRFQQVS DPVAAEFSLN TQMYLLSKKS LWLSDGSMGF 2890 2900 2910 2920 2930 2940 GQESDVAFAE GDIIYGRVMV DPVQNLGDSF YCSIEKVFLC TGADGYVPKY SPMNAEYGCL 2950 2960 2970 2980 2990 3000 ADSPSLLYRF KIVDKAQPET QATSFGNVLF NAKLAVDDPE AILLVNQPGS DGFKVDSTPL 3010 3020 3030 3040 3050 3060 FQVALGREWY IHTIYTVRSK DNANRGIGKR SVEYHSLVSQ GKPQSTTKSR KKREIRSTPS 3070 3080 3090 3100 3110 3120 LAWEIGAENS RGTNIQHIAL DRTKRQIPHG RAPPDGILPW ELNSPSSAVS LVTVVGGTTV 3130 3140 3150 3160 GLLTICLTVI AVLMCRGKES FRGKDAPKGS SSSEPMVPPQ SHHNDSSEV
	Isoform 2 [UniParc]. Checksum: 9AD8ABD80F89E9F8	FASTA	2,667	295,845
	10 20 30 40 50 60 MHSAGTPGLS SRRTGNSTSF QPGPPPPPRL LLLLLLLLSL VSRVPAQPAA FGRALLSPGL 70 80 90 100 110 120 AGAAGVPAEE AIVLANRGLR VPFGREVWLD PLHDLVLQVQ PGDRCAVSVL DNDALAQRPG 130 140 150 160 170 180 RLSPKRFPCD FGPGEVRYSH LGARSPSRDR VRLQLRYDAP GGAVVLPLVL EVEVVFTQLE 190 200 210 220 230 240 VVTRNLPLVV EELLGTSNAL DARSLEFAFQ PETEECRVGI LSGLGALPRY GELLHYPQVP 250 260 270 280 290 300 GGAREGGAPE TLLMDCKAFQ ELGVRYRHTA ASRSPNRDWI PMVVELRSRG APVGSPALKR 310 320 330 340 350 360 EHFQVLVRIR GGAENTAPKP SFVAMMMMEV DQFVLTALTP DMLAAEDAES PSDLLIFNLT 370 380 390 400 410 420 SPFQPGQGYL VSTDDRSLPL SSFTQRDLRL LKIAYQPPSE DSDQERLFEL ELEVVDLEGA 430 440 450 460 470 480 ASDPFAFMVV VKPMNTMAPV VTRNTGLILY EGQSRPLTGP AGSGPQNLVI SDEDDLEAVR 490 500 510 520 530 540 LEVVAGLRHG HLVILGASSG SSAPKSFTVA ELAAGQVVYQ HDDRDGSLSD NLVLRMVDGG 550 560 570 580 590 600 GRHQVQFLFP ITLVPVDDQP PVLNANTGLT LAEGETVPIL PLSLSATDMD SDDSLLLFVL 610 620 630 640 650 660 ESPFLTTGHL LLRQTHPPHE KQELLRGLWR KEGAFYERTV TEWQQQDITE GRLFYRHSGP 670 680 690 700 710 720 HSPGPVTDQF TFRVQDNHDP PNQSGLQRFV IRIHPVDRLP PELGSGCPLR MVVQESQLTP 730 740 750 760 770 780 LRKKWLRYTD LDTDDRELRY TVTQSPTDTD ENHLPAPLGT LVLTDNPSVV VTHFTQAQIN 790 800 810 820 830 840 HHKIAYRPPG QELGVATRVA QFQFQVEDRA GNVAPGTFTL YLHPVDNQPP EILNTGFTIQ 850 860 870 880 890 900 EKGHHILSET ELHVNDVDTD VAHISFTLTQ APKHGHMRVS GQILHVGGLF HLEDIKQGRV 910 920 930 940 950 960 SYAHNGDKSL TDSCSLEVSD RHHVVPITLR VNVRPVDDEV PILSHPTGTL ESYLDVLENG 970 980 990 1000 1010 1020 ATEITANVIK GTNEETDDLM LTFLLEDPPL YGEILVNGIP AEQFTQRDIL EGSVVYTHTS 1030 1040 1050 1060 1070 1080 GEIGLLPKAD SFNLSLSDMS QEWRIGGNTI QGVTIWVTIL PVDSQAPEIF VGEQLIVMEG 1090 1100 1110 1120 1130 1140 DKSVITSVHI SAEDVDSLND DILCTIVIQP TSGYVENISP APGSEKSRAG IAISAFNLKD 1150 1160 1170 1180 1190 1200 LRQGHINYVQ SVHKGVEPVE DRFVFRCSDG INFSERQFFP IVIIPTNDEQ PEMFMREFMV 1210 1220 1230 1240 1250 1260 MEGMSLVIDT PILNAADADV PLDDLTFTIT QFPTHGHIMN QLINGTVLVE SFTLDQIIES 1270 1280 1290 1300 1310 1320 SSIIYEHDDS ETQEDSFVIK LTDGKHSVEK TVLIIVIPVD DETPRMTINN GLEIEIGDTK 1330 1340 1350 1360 1370 1380 IINNKILMAT DLDSEDKSLV YIIRYGPGHG LLQRRKPTGA FENITLGMNF TQDEVDRNLI 1390 1400 1410 1420 1430 1440 QYVHLGQEGI RDLIKFDVTD GINPLIDRYF YVSIGSIDIV FPDVISKGVS LKEGGKVTLT 1450 1460 1470 1480 1490 1500 TDLLSTSDLN SPDENLVFTI TRAPMRGHLE CTDQPGVSIT SFTQLQLAGN KIYYIHTADD 1510 1520 1530 1540 1550 1560 EVKMDSFEFQ VTDGRNPVFR TFRISISDVD NKKPVVTIHK LVVSESENKL ITPFELTVED 1570 1580 1590 1600 1610 1620 RDTPDKLLKF TITQVPIHGH LLFNNTRPVM VFTKQDLNEN LISYKHDGTE SSEDSFSFTV 1630 1640 1650 1660 1670 1680 TDGTHTDFYV FPDTVFETRR PQVMKIQVLA VDNSVPQIAV NKGASTLRTL ATGHLGFMIT 1690 1700 1710 1720 1730 1740 SKILKVEDRD SLHISLRFIV TEAPQHGYLL NLDKGNHSIT QFTQADIDDM KICYVLREGA 1750 1760 1770 1780 1790 1800 NATSDMFYFA VEDGGGNKLT YQNFRLNWAW ISFEKEYYLV NEDSKFLDVV LKRRGYLGET 1810 1820 1830 1840 1850 1860 SFISIGTRDR TAEKDKDFKG KAQKQVQFNP GQTRATWRVR ILSDGEHEQS ETFQVVLSEP 1870 1880 1890 1900 1910 1920 VLAALEFPTV ATVEIVDPGD EPTVFIPQSK YSVEEDVGEL FIPIRRSGDV SQELMVVCYT 1930 1940 1950 1960 1970 1980 QQGTATGTVP TSVLSYSDYI SRPEDHTSVV RFDKDEREKL CRIVIIDDSL YEEEETFHVL 1990 2000 2010 2020 2030 2040 LSMPMGGRIG SEFPGAQVTI VPDKDDEPIF YFGDVEYSVD ESAGYVEVQV WRTGTDLSKS 2050 2060 2070 2080 2090 2100 SSVTVRSRKT DPPSADAGTD YVGISRNLDF APGVNMQPVR VVILDDLGQP ALEGIEKFEL 2110 2120 2130 2140 2150 2160 VLRMPMNAAL GEPSKATVSI NDSVSDLPKM QFKERIYTGS ESDGQIVTMI HRTGDVQYRS 2170 2180 2190 2200 2210 2220 SVRCYTRQGS AQVMMDFEER PNTDTSIITF LPGETEKPCI LELMDDVLYE EVEELRLVLG 2230 2240 2250 2260 2270 2280 TPQSNSPFGA AVGEQNETLI RIRDDADKTV IKFGETKFSV TEPKEPGESV VIRIPVIRQG 2290 2300 2310 2320 2330 2340 DTSKVSIVRV HTKDGSATSG EDYHPVSEEI EFKEGETQHV VEIEVTFDGV REMREAFTVH 2350 2360 2370 2380 2390 2400 LKPDENMIAE MQLTKAIVYI EEMSSMADVT FPSVPQIVSL LMYDDTSKAK ESAEPMSGYP 2410 2420 2430 2440 2450 2460 VICITACNPK YSDYDKTGSI CASENINDTL TRYRWLISAP AGPDGVTSPM REVDFDTFFT 2470 2480 2490 2500 2510 2520 SSKMVTLDSI YFQPGSRVQC AARAVNTNGD EGLELMSPIV TISREEGLCQ PRVPGVVGAE 2530 2540 2550 2560 2570 2580 PFSAKLRYTG PEDADYTNLI KLTVTMPHID GMLPVISTRE LSNFELTLSP DGTRVGNHKC 2590 2600 2610 2620 2630 2640 SNLLDYTEVK THYGFLTDAT KNPEIIGETY PYQYSLSIRG STTLRFYRNL NLEACLWEFV 2650 2660 SYYDMSELLA DCGGTIGTDG QVQIYNI

References

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[1]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1817-3169 (ISOFORM 2), VARIANT ILE-2326. Tissue: Tongue.
[3]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1910-3169 (ISOFORM 1), VARIANTS CYS-2066; SER-2153 AND ILE-2326. Tissue: Fetal kidney.
[4]	"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-1741, MASS SPECTROMETRY. Tissue: Plasma.
[5]	"Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs." Jadeja S., Smyth I., Pitera J.E., Taylor M.S., van Haelst M., Bentley E., McGregor L., Hopkins J., Chalepakis G., Philip N., Perez Aytes A., Watt F.M., Darling S.M., Jackson I., Woolf A.S., Scambler P.J. Nat. Genet. 37:520-525(2005) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION (ISOFORM 1), FUNCTION, VARIANT FRASS LYS-1972.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00180707. IPI00640805.
RefSeq	NP_997244.3. NM_207361.4.
UniGene	Hs.253994.
3D structure databases
ProteinModelPortal	Q5SZK8.
SMR	Q5SZK8. Positions 401-441, 669-702, 802-833, 914-943, 1053-1107, 1176-1220, 1279-1304, 1770-2403.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000280481.
PTM databases
PhosphoSite	Q5SZK8.
Polymorphism databases
DMDM	73620903.
Proteomic databases
PaxDb	Q5SZK8.
PRIDE	Q5SZK8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000280481; ENSP00000280481; ENSG00000150893.
GeneID	341640.
KEGG	hsa:341640.
UCSC	uc001uwv.3. human.
Organism-specific databases
CTD	341640.
GeneCards	GC13P039261.
H-InvDB	HIX0026558.
HGNC	HGNC:25396. FREM2.
HPA	HPA028831.
MIM	219000. phenotype. 608945. gene.
neXtProt	NX_Q5SZK8.
Orphanet	2052. Fraser syndrome.
PharmGKB	PA134930862.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG12793.
HOVERGEN	HBG081537.
InParanoid	Q5SZK8.
OMA	EDSKFLD.
OrthoDB	EOG4WDD9T.
Gene expression databases
Bgee	Q5SZK8.
CleanEx	HS_FREM2.
Genevestigator	Q5SZK8.
Family and domain databases
InterPro	IPR002126. Cadherin. IPR003644. Calx_beta. [Graphical view]
Pfam	PF03160. Calx-beta. 5 hits. [Graphical view]
SMART	SM00112. CA. 1 hit. SM00237. Calx_beta. 5 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	FREM2. human.
GenomeRNAi	341640.
NextBio	98177.
SOURCE	Search...

Entry information

Entry name

FREM2_HUMAN

Accession

Primary (citable) accession number: Q5SZK8
Secondary accession number(s): Q4QQG1 , Q5H9N8, Q5T6Q1, Q6N057, Q6ZSB4, Q7Z305, Q7Z341

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2005
Last sequence update:	August 16, 2005
Last modified:	May 1, 2013
This is version 86 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.