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Protein

CUB and sushi domain-containing protein 2

Gene

CSMD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
CUB and sushi domain-containing protein 2
Alternative name(s):
CUB and sushi multiple domains protein 2
Gene namesi
Name:CSMD2
Synonyms:KIAA1884
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:19290. CSMD2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 3408ExtracellularSequence analysisAdd BLAST3408
Transmembranei3409 – 3429HelicalSequence analysisAdd BLAST21
Topological domaini3430 – 3487CytoplasmicSequence analysisAdd BLAST58

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi114784.
OpenTargetsiENSG00000121904.
PharmGKBiPA134884681.

Polymorphism and mutation databases

BioMutaiCSMD2.
DMDMi116241318.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000794051 – 3487CUB and sushi domain-containing protein 2Add BLAST3487

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi25N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi26 ↔ 52By similarity
Glycosylationi34N-linked (GlcNAc...)Sequence analysis1
Glycosylationi51N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi139 ↔ 179By similarity
Disulfide bondi165 ↔ 196By similarity
Disulfide bondi202 ↔ 228By similarity
Disulfide bondi343 ↔ 383By similarity
Disulfide bondi369 ↔ 400By similarity
Disulfide bondi405 ↔ 431By similarity
Disulfide bondi521 ↔ 561By similarity
Disulfide bondi547 ↔ 574By similarity
Disulfide bondi578 ↔ 604By similarity
Glycosylationi581N-linked (GlcNAc...)Sequence analysis1
Glycosylationi680N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi691 ↔ 732By similarity
Disulfide bondi717 ↔ 748By similarity
Disulfide bondi752 ↔ 778By similarity
Disulfide bondi867 ↔ 907By similarity
Disulfide bondi893 ↔ 920By similarity
Disulfide bondi924 ↔ 950By similarity
Glycosylationi949N-linked (GlcNAc...)Sequence analysis1
Glycosylationi983N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1009N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1028N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1039 ↔ 1079By similarity
Disulfide bondi1065 ↔ 1094By similarity
Disulfide bondi1098 ↔ 1124By similarity
Glycosylationi1158N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1178N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1194N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1211 ↔ 1252By similarity
Disulfide bondi1238 ↔ 1267By similarity
Disulfide bondi1271 ↔ 1298By similarity
Disulfide bondi1385 ↔ 1425By similarity
Glycosylationi1393N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1411 ↔ 1441By similarity
Disulfide bondi1445 ↔ 1471By similarity
Disulfide bondi1558 ↔ 1598By similarity
Glycosylationi1566N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1584 ↔ 1615By similarity
Disulfide bondi1619 ↔ 1645By similarity
Glycosylationi1638N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1735 ↔ 1775By similarity
Disulfide bondi1761 ↔ 1792By similarity
Glycosylationi1786N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1796 ↔ 1822By similarity
Glycosylationi1799N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1876N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1909 ↔ 1949By similarity
Disulfide bondi1935 ↔ 1964By similarity
Disulfide bondi1968 ↔ 1994By similarity
Glycosylationi2012N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi2123 ↔ 2163By similarity
Disulfide bondi2149 ↔ 2178By similarity
Disulfide bondi2182 ↔ 2208By similarity
Glycosylationi2185N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2190N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2223N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi2294 ↔ 2336By similarity
Disulfide bondi2322 ↔ 2351By similarity
Disulfide bondi2355 ↔ 2383By similarity
Glycosylationi2394N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2430N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi2468 ↔ 2509By similarity
Disulfide bondi2495 ↔ 2526By similarity
Disulfide bondi2531 ↔ 2573By similarity
Disulfide bondi2557 ↔ 2588By similarity
Disulfide bondi2593 ↔ 2638By similarity
Disulfide bondi2624 ↔ 2653By similarity
Disulfide bondi2658 ↔ 2698By similarity
Disulfide bondi2684 ↔ 2711By similarity
Disulfide bondi2716 ↔ 2756By similarity
Glycosylationi2731N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi2742 ↔ 2769By similarity
Disulfide bondi2774 ↔ 2814By similarity
Disulfide bondi2800 ↔ 2827By similarity
Glycosylationi2809N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi2835 ↔ 2875By similarity
Disulfide bondi2861 ↔ 2888By similarity
Glycosylationi2878N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi2893 ↔ 2934By similarity
Disulfide bondi2920 ↔ 2947By similarity
Glycosylationi2937N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi2952 ↔ 2994By similarity
Glycosylationi2971N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi2978 ↔ 3007By similarity
Glycosylationi3001N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi3012 ↔ 3052By similarity
Disulfide bondi3038 ↔ 3065By similarity
Glycosylationi3055N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi3070 ↔ 3110By similarity
Disulfide bondi3096 ↔ 3123By similarity
Disulfide bondi3131 ↔ 3172By similarity
Glycosylationi3143N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi3158 ↔ 3185By similarity
Glycosylationi3175N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi3190 ↔ 3232By similarity
Disulfide bondi3217 ↔ 3245By similarity
Glycosylationi3307N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3407N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ7Z408.
PaxDbiQ7Z408.
PeptideAtlasiQ7Z408.
PRIDEiQ7Z408.

PTM databases

iPTMnetiQ7Z408.
PhosphoSitePlusiQ7Z408.

Expressioni

Tissue specificityi

Weakly expressed in most tissues, except in brain. Expressed at intermediate level in brain, including cerebellum, substantia nigra, hippocampus and fetal brain. Overexpressed in some head and neck cancer cell lines.2 Publications

Gene expression databases

BgeeiENSG00000121904.
ExpressionAtlasiQ7Z408. baseline and differential.
GenevisibleiQ7Z408. HS.

Organism-specific databases

HPAiHPA008622.

Interactioni

Protein-protein interaction databases

BioGridi125346. 1 interactor.
IntActiQ7Z408. 7 interactors.
MINTiMINT-7240859.
STRINGi9606.ENSP00000241312.

Structurei

3D structure databases

ProteinModelPortaliQ7Z408.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini26 – 134CUB 1PROSITE-ProRule annotationAdd BLAST109
Domaini137 – 198Sushi 1PROSITE-ProRule annotationAdd BLAST62
Domaini202 – 306CUB 2PROSITE-ProRule annotationAdd BLAST105
Domaini341 – 402Sushi 2PROSITE-ProRule annotationAdd BLAST62
Domaini405 – 516CUB 3PROSITE-ProRule annotationAdd BLAST112
Domaini519 – 576Sushi 3PROSITE-ProRule annotationAdd BLAST58
Domaini578 – 686CUB 4PROSITE-ProRule annotationAdd BLAST109
Domaini689 – 750Sushi 4PROSITE-ProRule annotationAdd BLAST62
Domaini752 – 860CUB 5PROSITE-ProRule annotationAdd BLAST109
Domaini865 – 922Sushi 5PROSITE-ProRule annotationAdd BLAST58
Domaini924 – 1034CUB 6PROSITE-ProRule annotationAdd BLAST111
Domaini1037 – 1096Sushi 6PROSITE-ProRule annotationAdd BLAST60
Domaini1098 – 1206CUB 7PROSITE-ProRule annotationAdd BLAST109
Domaini1209 – 1269Sushi 7PROSITE-ProRule annotationAdd BLAST61
Domaini1271 – 1380CUB 8PROSITE-ProRule annotationAdd BLAST110
Domaini1383 – 1443Sushi 8PROSITE-ProRule annotationAdd BLAST61
Domaini1445 – 1553CUB 9PROSITE-ProRule annotationAdd BLAST109
Domaini1556 – 1617Sushi 9PROSITE-ProRule annotationAdd BLAST62
Domaini1619 – 1727CUB 10PROSITE-ProRule annotationAdd BLAST109
Domaini1733 – 1794Sushi 10PROSITE-ProRule annotationAdd BLAST62
Domaini1796 – 1904CUB 11PROSITE-ProRule annotationAdd BLAST109
Domaini1907 – 1966Sushi 11PROSITE-ProRule annotationAdd BLAST60
Domaini1968 – 2076CUB 12PROSITE-ProRule annotationAdd BLAST109
Domaini2121 – 2180Sushi 12PROSITE-ProRule annotationAdd BLAST60
Domaini2182 – 2293CUB 13PROSITE-ProRule annotationAdd BLAST112
Domaini2292 – 2353Sushi 13PROSITE-ProRule annotationAdd BLAST62
Domaini2355 – 2466CUB 14PROSITE-ProRule annotationAdd BLAST112
Domaini2466 – 2528Sushi 14PROSITE-ProRule annotationAdd BLAST63
Domaini2529 – 2590Sushi 15PROSITE-ProRule annotationAdd BLAST62
Domaini2591 – 2655Sushi 16PROSITE-ProRule annotationAdd BLAST65
Domaini2656 – 2713Sushi 17PROSITE-ProRule annotationAdd BLAST58
Domaini2714 – 2771Sushi 18PROSITE-ProRule annotationAdd BLAST58
Domaini2772 – 2829Sushi 19PROSITE-ProRule annotationAdd BLAST58
Domaini2833 – 2890Sushi 20PROSITE-ProRule annotationAdd BLAST58
Domaini2891 – 2949Sushi 21PROSITE-ProRule annotationAdd BLAST59
Domaini2950 – 3009Sushi 22PROSITE-ProRule annotationAdd BLAST60
Domaini3010 – 3067Sushi 23PROSITE-ProRule annotationAdd BLAST58
Domaini3068 – 3125Sushi 24PROSITE-ProRule annotationAdd BLAST58
Domaini3129 – 3187Sushi 25PROSITE-ProRule annotationAdd BLAST59
Domaini3188 – 3247Sushi 26PROSITE-ProRule annotationAdd BLAST60

Sequence similaritiesi

Belongs to the CSMD family.Curated
Contains 14 CUB domains.PROSITE-ProRule annotation
Contains 26 Sushi (CCP/SCR) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Sushi, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4297. Eukaryota.
ENOG410XPJ1. LUCA.
GeneTreeiENSGT00760000118803.
HOGENOMiHOG000112015.
HOVERGENiHBG051134.
InParanoidiQ7Z408.
KOiK17495.
OMAiNFTAQVR.
OrthoDBiEOG091G00EH.
PhylomeDBiQ7Z408.
TreeFamiTF316872.

Family and domain databases

CDDicd00033. CCP. 26 hits.
cd00041. CUB. 14 hits.
Gene3Di2.60.120.290. 14 hits.
InterProiIPR000859. CUB_dom.
IPR000436. Sushi_SCR_CCP_dom.
[Graphical view]
PfamiPF00431. CUB. 14 hits.
PF00084. Sushi. 26 hits.
[Graphical view]
SMARTiSM00032. CCP. 26 hits.
SM00042. CUB. 14 hits.
[Graphical view]
SUPFAMiSSF49854. SSF49854. 14 hits.
SSF57535. SSF57535. 26 hits.
PROSITEiPS01180. CUB. 14 hits.
PS50923. SUSHI. 26 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z408-1) [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
MRLISIAPGP RWQVQSHHPR SAGQNCTFQL HGPNGTVESP GFPYGYPNYA
60 70 80 90 100
NCTWTITAEE QHRIQLVFQS FALEEDFDVL SVFDGPPQPE NLRTRLTGFQ
110 120 130 140 150
LPATIVSAAT TLSLRLISDY AVSAQGFHAT YEVLPSHTCG NPGRLPNGIQ
160 170 180 190 200
QGSTFNLGDK VRYSCNLGFF LEGHAVLTCH AGSENSATWD FPLPSCRADD
210 220 230 240 250
ACGGTLRGQS GIISSPHFPS EYHNNADCTW TILAELGDTI ALVFIDFQLE
260 270 280 290 300
DGYDFLEVTG TEGSSLWFTG ASLPAPVISS KNWLRLHFTS DGNHRQRGFS
310 320 330 340 350
AQYQVKKQIE LKSRGVKLMP SKDNSQKTSV LTQVGVSQGH NMCPDPGIPE
360 370 380 390 400
RGKRLGSDFR LGSSVQFTCN EGYDLQGSKR ITCMKVSDMF AAWSDHRPVC
410 420 430 440 450
RARMCDAHLR GPSGIITSPN FPIQYDNNAH CVWIITALNP SKVIKLAFEE
460 470 480 490 500
FDLERGYDTL TVGDGGQDGD QKTVLYILTG TSVPDLIVST NHQMWLLFQT
510 520 530 540 550
DGSGSSLGFK ASYEEIEQGS CGDPGIPAYG RREGSRFHHG DTLKFECQPA
560 570 580 590 600
FELVGQKAIT CQKNNQWSAK KPGCVFSCFF NFTSPSGVVL SPNYPEDYGN
610 620 630 640 650
HLHCVWLILA RPESRIHLAF NDIDVEPQFD FLVIKDGATA EAPVLGTFSG
660 670 680 690 700
NQLPSSITSS GHVARLEFQT DHSTGKRGFN ITFTTFRHNE CPDPGVPVNG
710 720 730 740 750
KRFGDSLQLG SSISFLCDEG FLGTQGSETI TCVLKEGSVV WNSAVLRCEA
760 770 780 790 800
PCGGHLTSPS GTILSPGWPG FYKDALSCAW VIEAQPGYPI KITFDRFKTE
810 820 830 840 850
VNYDTLEVRD GRTYSAPLIG VYHGTQVPQF LISTSNYLYL LFSTDKSHSD
860 870 880 890 900
IGFQLRYETI TLQSDHCLDP GIPVNGQRHG NDFYVGALVT FSCDSGYTLS
910 920 930 940 950
DGEPLECEPN FQWSRALPSC EALCGGFIQG SSGTILSPGF PDFYPNNLNC
960 970 980 990 1000
TWIIETSHGK GVFFTFHTFH LESGHDYLLI TENGSFTQPL RQLTGSRLPA
1010 1020 1030 1040 1050
PISAGLYGNF TAQVRFISDF SMSYEGFNIT FSEYDLEPCE EPEVPAYSIR
1060 1070 1080 1090 1100
KGLQFGVGDT LTFSCFPGYR LEGTARITCL GGRRRLWSSP LPRCVAECGN
1110 1120 1130 1140 1150
SVTGTQGTLL SPNFPVNYNN NHECIYSIQT QPGKGIQLKA RAFELSEGDV
1160 1170 1180 1190 1200
LKVYDGNNNS ARLLGVFSHS EMMGVTLNST SSSLWLDFIT DAENTSKGFE
1210 1220 1230 1240 1250
LHFSSFELIK CEDPGTPKFG YKVHDEGHFA GSSVSFSCDP GYSLRGSEEL
1260 1270 1280 1290 1300
LCLSGERRTW DRPLPTCVAE CGGTVRGEVS GQVLSPGYPA PYEHNLNCIW
1310 1320 1330 1340 1350
TIEAEAGCTI GLHFLVFDTE EVHDVLRIWD GPVESGVLLK ELSGPALPKD
1360 1370 1380 1390 1400
LHSTFNSVVL QFSTDFFTSK QGFAIQFSVS TATSCNDPGI PQNGSRSGDS
1410 1420 1430 1440 1450
WEAGDSTVFQ CDPGYALQGS AEISCVKIEN RFFWQPSPPT CIAPCGGDLT
1460 1470 1480 1490 1500
GPSGVILSPN YPEPYPPGKE CDWKVTVSPD YVIALVFNIF NLEPGYDFLH
1510 1520 1530 1540 1550
IYDGRDSLSP LIGSFYGSQL PGRIESSSNS LFLAFRSDAS VSNAGFVIDY
1560 1570 1580 1590 1600
TENPRESCFD PGSIKNGTRV GSDLKLGSSV TYYCHGGYEV EGTSTLSCIL
1610 1620 1630 1640 1650
GPDGKPVWNN PRPVCTAPCG GQYVGSDGVV LSPNYPQNYT SGQICLYFVT
1660 1670 1680 1690 1700
VPKDYVVFGQ FAFFHTALND VVEVHDGHSQ HSRLLSSLSG SHTGESLPLA
1710 1720 1730 1740 1750
TSNQVLIKFS AKGLAPARGF HFVYQAVPRT SATQCSSVPE PRYGKRLGSD
1760 1770 1780 1790 1800
FSVGAIVRFE CNSGYALQGS PEIECLPVPG ALAQWNVSAP TCVVPCGGNL
1810 1820 1830 1840 1850
TERRGTILSP GFPEPYLNSL NCVWKIVVPE GAGIQIQVVS FVTEQNWDSL
1860 1870 1880 1890 1900
EVFDGADNTV TMLGSFSGTT VPALLNSTSN QLYLHFYSDI SVSAAGFHLE
1910 1920 1930 1940 1950
YKTVGLSSCP EPAVPSNGVK TGERYLVNDV VSFQCEPGYA LQGHAHISCM
1960 1970 1980 1990 2000
PGTVRRWNYP PPLCIAQCGG TVEEMEGVIL SPGFPGNYPS NMDCSWKIAL
2010 2020 2030 2040 2050
PVGFGAHIQF LNFSTEPNHD YIEIRNGPYE TSRMMGRFSG SELPSSLLST
2060 2070 2080 2090 2100
SHETTVYFHS DHSQNRPGFK LEYQDLTYSH QISSFLRGFD LSELERTNST
2110 2120 2130 2140 2150
PPVAASYVWD LDPGCEAYEL QECPDPEPFA NGIVRGAGYN VGQSVTFECL
2160 2170 2180 2190 2200
PGYQLTGHPV LTCQHGTNRN WDHPLPKCEV PCGGNITSSN GTVYSPGFPS
2210 2220 2230 2240 2250
PYSSSQDCVW LITVPIGHGV RLNLSLLQTE PSGDFITIWD GPQQTAPRLG
2260 2270 2280 2290 2300
VFTRSMAKKT VQSSSNQVLL KFHRDAATGG IFAIAFSAYP LTKCPPPTIL
2310 2320 2330 2340 2350
PNAEVVTENE EFNIGDIVRY RCLPGFTLVG NEILTCKLGT YLQFEGPPPI
2360 2370 2380 2390 2400
CEVHCPTNEL LTDSTGVILS QSYPGSYPQF QTCSWLVRVE PDYNISLTVE
2410 2420 2430 2440 2450
YFLSEKQYDE FEIFDGPSGQ SPLLKALSGN YSAPLIVTSS SNSVYLRWSS
2460 2470 2480 2490 2500
DHAYNRKGFK IRYSAPYCSL PRAPLHGFIL GQTSTQPGGS IHFGCNAGYR
2510 2520 2530 2540 2550
LVGHSMAICT RHPQGYHLWS EAIPLCQALS CGLPEAPKNG MVFGKEYTVG
2560 2570 2580 2590 2600
TKAMYSCSEG YHLQAGAEAT AECLDTGLWS NRNVPPQCVP VTCPDVSSIS
2610 2620 2630 2640 2650
VEHGRWRLIF ETQYQFQAQL MLICDPGYYY TGQRVIRCQA NGKWSLGDST
2660 2670 2680 2690 2700
PTCRIISCGE LPIPPNGHRI GTLSVYGATA IFSCNSGYTL VGSRVRECMA
2710 2720 2730 2740 2750
NGLWSGSEVR CLAGHCGTPE PIVNGHINGE NYSYRGSVVY QCNAGFRLIG
2760 2770 2780 2790 2800
MSVRICQQDH HWSGKTPFCV LVSCGHPGSP PHSQMSGDSY TVGAVVRYSC
2810 2820 2830 2840 2850
IGKRTLVGNS TRMCGLDGHW TGSLPHCSGT SVGVCGDPGI PAHGIRLGDS
2860 2870 2880 2890 2900
FDPGTVMRFS CEAGHVLRGS SERTCQANGS WSGSQPECGV ISCGNPGTPS
2910 2920 2930 2940 2950
NARVVFSDGL VFSSSIVYEC REGYYATGLL SRHCSVNGTW TGSDPECLVI
2960 2970 2980 2990 3000
NCGDPGIPAN GLRLGNDFRY NKTVTYQCVP GYMMESHRVS VLSCTKDRTW
3010 3020 3030 3040 3050
NGTKPVCKAL MCKPPPLIPN GKVVGSDFMW GSSVTYACLE GYQLSLPAVF
3060 3070 3080 3090 3100
TCEGNGSWTG ELPQCFPVFC GDPGVPSRGR REDRGFSYRS SVSFSCHPPL
3110 3120 3130 3140 3150
VLVGSPRRFC QSDGTWSGTQ PSCIDPTLTT CADPGVPQFG IQNNSQGYQV
3160 3170 3180 3190 3200
GSTVLFRCQK GYLLQGSTTR TCLPNLTWSG TPPDCVPHHC RQPETPTHAN
3210 3220 3230 3240 3250
VGALDLPSMG YTLIYSCQEG FSLKGGSEHR TCKADGSWTG KPPICLEVRP
3260 3270 3280 3290 3300
SGRPINTARE PPLTQALIPG DVFAKNSLWK GAYEYQGKKQ PAMLRVTGFQ
3310 3320 3330 3340 3350
VANSKVNATM IDHSGVELHL AGTYKKEDFH LLLQVYQITG PVEIFMNKFK
3360 3370 3380 3390 3400
DDHWALDGHV SSESSGATFI YQGSVKGQGF GQFGFQRLDL RLLESDPESI
3410 3420 3430 3440 3450
GRHFASNSSS VAAAILVPFI ALIIAGFVLY LYKHRRRPKV PFNGYAGHEN
3460 3470 3480
TNVRATFENP MYDRNIQPTD IMASEAEFTV STVCTAV
Length:3,487
Mass (Da):380,039
Last modified:October 17, 2006 - v2
Checksum:i3A2A1A2911EFC1F4
GO
Isoform 2 (identifier: Q7Z408-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1087: Missing.
     1088-1095: SSPLPRCV → MVIVILFP
     2075-2116: Missing.
     2288-2296: AYPLTKCPP → GHLAAVCTL
     2297-3487: Missing.

Note: No experimental confirmation available.
Show »
Length:1,167
Mass (Da):126,167
Checksum:iA01099D90B049710
GO
Isoform 3 (identifier: Q7Z408-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-403: Missing.
     443-443: V → VGGDPGNIQCNKEGLSVETQSLRLRNRSCLLGNSKDNGCCVPNPVHGTGLQV
     576-577: FS → CK
     578-3487: Missing.

Note: No experimental confirmation available.
Show »
Length:225
Mass (Da):24,393
Checksum:iF807E3CE7EC32C31
GO
Isoform 4 (identifier: Q7Z408-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MRLISIAPGPRWQVQSHHPRS → MPRSRGRELG...GCGLLSVSAA
     2075-2116: Missing.
     2712-2712: L → LATQTKLHSIFYKLLFDVLSSPSLTK
     2770-2770: V → VPITCGHPGN...TWDRPRPQCL

Show »
Length:3,631
Mass (Da):394,998
Checksum:i812D81D0F716FE2A
GO

Sequence cautioni

The sequence BAC04593 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti133V → A in AAO34701 (PubMed:12906867).Curated1
Sequence conflicti1104G → A in BAC87101 (PubMed:14702039).Curated1
Sequence conflicti1175V → E in BAC87101 (PubMed:14702039).Curated1
Sequence conflicti1695E → G in BAC87101 (PubMed:14702039).Curated1
Sequence conflicti3251S → N in AAO34701 (PubMed:12906867).Curated1
Sequence conflicti3251S → N in BAB67777 (PubMed:11572484).Curated1
Sequence conflicti3251S → N in BAD97692 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028081167L → P.Corresponds to variant rs16836099dbSNPEnsembl.1
Natural variantiVAR_024330538H → R.Corresponds to variant rs474474dbSNPEnsembl.1
Natural variantiVAR_0280822096R → K.Corresponds to variant rs1874045dbSNPEnsembl.1
Natural variantiVAR_0280832117A → V.Corresponds to variant rs11588581dbSNPEnsembl.1
Natural variantiVAR_0280842554M → V.1 PublicationCorresponds to variant rs2641962dbSNPEnsembl.1
Natural variantiVAR_0280852661L → R.Corresponds to variant rs3820206dbSNPEnsembl.1
Natural variantiVAR_0509172661L → V.Corresponds to variant rs34850622dbSNPEnsembl.1
Natural variantiVAR_0280863406S → F.Corresponds to variant rs1617468dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0090381 – 1087Missing in isoform 2. 1 PublicationAdd BLAST1087
Alternative sequenceiVSP_0090431 – 403Missing in isoform 3. 1 PublicationAdd BLAST403
Alternative sequenceiVSP_0556871 – 21MRLIS…HHPRS → MPRSRGRELGRCGCPAGRAR GETGISALVPGAGSRWGRPP PPTPPPLLLLLGCGLLSVSA A in isoform 4. CuratedAdd BLAST21
Alternative sequenceiVSP_009044443V → VGGDPGNIQCNKEGLSVETQ SLRLRNRSCLLGNSKDNGCC VPNPVHGTGLQV in isoform 3. 1 Publication1
Alternative sequenceiVSP_009045576 – 577FS → CK in isoform 3. 1 Publication2
Alternative sequenceiVSP_009046578 – 3487Missing in isoform 3. 1 PublicationAdd BLAST2910
Alternative sequenceiVSP_0090391088 – 1095SSPLPRCV → MVIVILFP in isoform 2. 1 Publication8
Alternative sequenceiVSP_0090402075 – 2116Missing in isoform 2 and isoform 4. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_0090412288 – 2296AYPLTKCPP → GHLAAVCTL in isoform 2. 1 Publication9
Alternative sequenceiVSP_0090422297 – 3487Missing in isoform 2. 1 PublicationAdd BLAST1191
Alternative sequenceiVSP_0556882712L → LATQTKLHSIFYKLLFDVLS SPSLTK in isoform 4. Curated1
Alternative sequenceiVSP_0556892770V → VPITCGHPGNPVNGLTQGNQ FNLNDVVKFVCNPGYMAEGA ARSQCLASGQWSDMLPTCRI INCTDPGHQENSVRQVHASG PHRFSFGTTVSYRCNHGFYL LGTPVLSCQGDGTWDRPRPQ CL in isoform 4. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY210418 mRNA. Translation: AAO34701.1.
AB212622 mRNA. Translation: BAD97692.1.
AK095627 mRNA. Translation: BAC04593.1. Different initiation.
AK127722 mRNA. Translation: BAC87101.1.
AC115285 Genomic DNA. No translation available.
AC115286 Genomic DNA. No translation available.
AC116993 Genomic DNA. No translation available.
AL121980 Genomic DNA. No translation available.
AL139140 Genomic DNA. No translation available.
AL355178, AL161643 Genomic DNA. Translation: CAI23434.1.
AL161643, AL355178 Genomic DNA. Translation: CAI23498.1.
AL596224 Genomic DNA. No translation available.
AL607106 Genomic DNA. No translation available.
BC031871 mRNA. Translation: AAH31871.1.
AB067471 mRNA. Translation: BAB67777.1.
CCDSiCCDS380.1. [Q7Z408-1]
CCDS60082.1. [Q7Z408-4]
RefSeqiNP_001268885.1. NM_001281956.1. [Q7Z408-4]
NP_443128.2. NM_052896.4. [Q7Z408-1]
UniGeneiHs.656915.

Genome annotation databases

EnsembliENST00000241312; ENSP00000241312; ENSG00000121904. [Q7Z408-1]
ENST00000373380; ENSP00000362478; ENSG00000121904. [Q7Z408-2]
ENST00000373381; ENSP00000362479; ENSG00000121904. [Q7Z408-4]
ENST00000373388; ENSP00000362486; ENSG00000121904. [Q7Z408-1]
GeneIDi114784.
KEGGihsa:114784.
UCSCiuc001bxm.2. human. [Q7Z408-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY210418 mRNA. Translation: AAO34701.1.
AB212622 mRNA. Translation: BAD97692.1.
AK095627 mRNA. Translation: BAC04593.1. Different initiation.
AK127722 mRNA. Translation: BAC87101.1.
AC115285 Genomic DNA. No translation available.
AC115286 Genomic DNA. No translation available.
AC116993 Genomic DNA. No translation available.
AL121980 Genomic DNA. No translation available.
AL139140 Genomic DNA. No translation available.
AL355178, AL161643 Genomic DNA. Translation: CAI23434.1.
AL161643, AL355178 Genomic DNA. Translation: CAI23498.1.
AL596224 Genomic DNA. No translation available.
AL607106 Genomic DNA. No translation available.
BC031871 mRNA. Translation: AAH31871.1.
AB067471 mRNA. Translation: BAB67777.1.
CCDSiCCDS380.1. [Q7Z408-1]
CCDS60082.1. [Q7Z408-4]
RefSeqiNP_001268885.1. NM_001281956.1. [Q7Z408-4]
NP_443128.2. NM_052896.4. [Q7Z408-1]
UniGeneiHs.656915.

3D structure databases

ProteinModelPortaliQ7Z408.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125346. 1 interactor.
IntActiQ7Z408. 7 interactors.
MINTiMINT-7240859.
STRINGi9606.ENSP00000241312.

PTM databases

iPTMnetiQ7Z408.
PhosphoSitePlusiQ7Z408.

Polymorphism and mutation databases

BioMutaiCSMD2.
DMDMi116241318.

Proteomic databases

EPDiQ7Z408.
PaxDbiQ7Z408.
PeptideAtlasiQ7Z408.
PRIDEiQ7Z408.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000241312; ENSP00000241312; ENSG00000121904. [Q7Z408-1]
ENST00000373380; ENSP00000362478; ENSG00000121904. [Q7Z408-2]
ENST00000373381; ENSP00000362479; ENSG00000121904. [Q7Z408-4]
ENST00000373388; ENSP00000362486; ENSG00000121904. [Q7Z408-1]
GeneIDi114784.
KEGGihsa:114784.
UCSCiuc001bxm.2. human. [Q7Z408-1]

Organism-specific databases

CTDi114784.
DisGeNETi114784.
GeneCardsiCSMD2.
H-InvDBHIX0000395.
HGNCiHGNC:19290. CSMD2.
HPAiHPA008622.
MIMi608398. gene.
neXtProtiNX_Q7Z408.
OpenTargetsiENSG00000121904.
PharmGKBiPA134884681.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4297. Eukaryota.
ENOG410XPJ1. LUCA.
GeneTreeiENSGT00760000118803.
HOGENOMiHOG000112015.
HOVERGENiHBG051134.
InParanoidiQ7Z408.
KOiK17495.
OMAiNFTAQVR.
OrthoDBiEOG091G00EH.
PhylomeDBiQ7Z408.
TreeFamiTF316872.

Miscellaneous databases

ChiTaRSiCSMD2. human.
GeneWikiiCSMD2.
GenomeRNAii114784.
PROiQ7Z408.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000121904.
ExpressionAtlasiQ7Z408. baseline and differential.
GenevisibleiQ7Z408. HS.

Family and domain databases

CDDicd00033. CCP. 26 hits.
cd00041. CUB. 14 hits.
Gene3Di2.60.120.290. 14 hits.
InterProiIPR000859. CUB_dom.
IPR000436. Sushi_SCR_CCP_dom.
[Graphical view]
PfamiPF00431. CUB. 14 hits.
PF00084. Sushi. 26 hits.
[Graphical view]
SMARTiSM00032. CCP. 26 hits.
SM00042. CUB. 14 hits.
[Graphical view]
SUPFAMiSSF49854. SSF49854. 14 hits.
SSF57535. SSF57535. 26 hits.
PROSITEiPS01180. CUB. 14 hits.
PS50923. SUSHI. 26 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCSMD2_HUMAN
AccessioniPrimary (citable) accession number: Q7Z408
Secondary accession number(s): B1AM50
, E7EUA6, Q53TY4, Q5VT59, Q8N963, Q96Q03, Q9H4V7, Q9H4V8, Q9H4V9, Q9H4W0, Q9H4W1, Q9H4W2, Q9H4W3, Q9H4W4, Q9HCY5, Q9HCY6, Q9HCY7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: October 17, 2006
Last modified: November 30, 2016
This is version 121 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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.