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Q5SZK8 (FREM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
FRAS1-related extracellular matrix protein 2
Alternative name(s):
ECM3 homolog
Gene names
Name:FREM2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length3169 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 4646 Potential
Chain47 – 31693123FRAS1-related extracellular matrix protein 2
PRO_0000010124

Regions

Topological domain47 – 31133067Extracellular Potential
Transmembrane3114 – 313421Helical; Potential
Topological domain3135 – 316935Cytoplasmic Potential
Repeat298 – 419122CSPG 1
Repeat420 – 541122CSPG 2
Repeat542 – 681140CSPG 3
Repeat682 – 811130CSPG 4
Repeat812 – 921110CSPG 5
Repeat922 – 1052131CSPG 6
Repeat1053 – 1171119CSPG 7
Repeat1172 – 1284113CSPG 8
Repeat1285 – 1400116CSPG 9
Repeat1401 – 1514114CSPG 10
Repeat1515 – 1633119CSPG 11
Repeat1634 – 1758125CSPG 12
Domain1759 – 1858100Calx-beta 1
Domain1871 – 1982112Calx-beta 2
Domain1997 – 2103107Calx-beta 3
Domain2118 – 2220103Calx-beta 4
Domain2238 – 2342105Calx-beta 5

Amino acid modifications

Glycosylation3581N-linked (GlcNAc...) Potential
Glycosylation12441N-linked (GlcNAc...) Potential
Glycosylation13691N-linked (GlcNAc...) Potential
Glycosylation15841N-linked (GlcNAc...) Potential
Glycosylation17411N-linked (GlcNAc...) Ref.4

Natural variations

Alternative sequence2663 – 26675LNLVQ → QIYNI in isoform 2.
VSP_015035
Alternative sequence2668 – 3169502Missing in isoform 2.
VSP_015036
Natural variant7221R → K.
Corresponds to variant rs58363253 [ dbSNP | Ensembl ].
VAR_061174
Natural variant7451S → P.
Corresponds to variant rs2496423 [ dbSNP | Ensembl ].
VAR_061175
Natural variant7701V → M.
Corresponds to variant rs7327915 [ dbSNP | Ensembl ].
VAR_033933
Natural variant8681L → V.
Corresponds to variant rs7329939 [ dbSNP | Ensembl ].
VAR_033934
Natural variant10391M → K.
Corresponds to variant rs2496424 [ dbSNP | Ensembl ].
VAR_033935
Natural variant10451I → S.
Corresponds to variant rs17058433 [ dbSNP | Ensembl ].
VAR_037569
Natural variant10701F → S.
Corresponds to variant rs2496425 [ dbSNP | Ensembl ].
VAR_033936
Natural variant16681R → H.
Corresponds to variant rs1868463 [ dbSNP | Ensembl ].
VAR_037570
Natural variant18401R → W.
Corresponds to variant rs9603422 [ dbSNP | Ensembl ].
VAR_033937
Natural variant19721E → K in FRASS; may impair calcium-binding in the 2nd Calx-beta domain. Ref.5
VAR_023201
Natural variant20661R → C. Ref.3
Corresponds to variant rs9548505 [ dbSNP | Ensembl ].
VAR_023202
Natural variant21531T → S. Ref.3
Corresponds to variant rs9548506 [ dbSNP | Ensembl ].
VAR_023203
Natural variant23261T → I. Ref.2 Ref.3
Corresponds to variant rs9548509 [ dbSNP | Ensembl ].
VAR_023204
Natural variant29621A → V.
Corresponds to variant rs7996253 [ dbSNP | Ensembl ].
VAR_037571

Experimental info

Sequence conflict20301V → A in CAD98088. Ref.2
Sequence conflict21121E → K in BAC87040. Ref.3
Sequence conflict21161A → T in BAC87040. Ref.3
Sequence conflict23591Y → H in CAD98088. Ref.2
Sequence conflict25081L → P in BAC87040. Ref.3
Sequence conflict26381E → K in BAC87040. Ref.3
Sequence conflict26821F → I in CAD98088. Ref.2
Sequence conflict27771T → S in CAI46253. Ref.2
Sequence conflict27861E → G in CAD98036. Ref.2
Sequence conflict29681V → I in CAD98088. Ref.2
Sequence conflict29681V → I in CAE45813. Ref.2
Sequence conflict30811D → G in CAD98088. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 16, 2005. Version 2.
Checksum: 4000FC02963417F7

FASTA3,169351,157
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 9AD8ABD80F89E9F8
Show »

FASTA2,667295,845

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
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.

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.
RefSeqNP_997244.4. NM_207361.5. [Q5SZK8-1]
UniGeneHs.253994.

3D structure databases

ProteinModelPortalQ5SZK8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131147. 1 interaction.
STRING9606.ENSP00000280481.

PTM databases

PhosphoSiteQ5SZK8.

Polymorphism databases

DMDM73620903.

Proteomic databases

MaxQBQ5SZK8.
PaxDbQ5SZK8.
PRIDEQ5SZK8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000280481; ENSP00000280481; ENSG00000150893. [Q5SZK8-1]
GeneID341640.
KEGGhsa:341640.
UCSCuc001uwv.3. human. [Q5SZK8-1]

Organism-specific databases

CTD341640.
GeneCardsGC13P039261.
H-InvDBHIX0026558.
HGNCHGNC:25396. FREM2.
HPAHPA028831.
MIM219000. phenotype.
608945. gene.
neXtProtNX_Q5SZK8.
Orphanet2052. Fraser syndrome.
PharmGKBPA134930862.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOVERGENHBG081537.
InParanoidQ5SZK8.
OMAEDSKFLD.
OrthoDBEOG751NDJ.
PhylomeDBQ5SZK8.
TreeFamTF316876.

Gene expression databases

BgeeQ5SZK8.
CleanExHS_FREM2.
GenevestigatorQ5SZK8.

Family and domain databases

InterProIPR002126. Cadherin.
IPR003644. Calx_beta.
[Graphical view]
PfamPF03160. Calx-beta. 5 hits.
[Graphical view]
SMARTSM00112. CA. 1 hit.
SM00237. Calx_beta. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFREM2. human.
GeneWikiFREM2.
GenomeRNAi341640.
NextBio98177.
PROQ5SZK8.
SOURCESearch...

Entry information

Entry nameFREM2_HUMAN
AccessionPrimary (citable) accession number: Q5SZK8
Secondary accession number(s): Q4QQG1 expand/collapse secondary AC list , Q5H9N8, Q5T6Q1, Q6N057, Q6ZSB4, Q7Z305, Q7Z341
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: August 16, 2005
Last modified: July 9, 2014
This is version 97 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM