O75129 (ASTN2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Astrotactin-2

Gene names

Name:	ASTN2
Synonyms:	KIAA0634

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1339 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Membrane; Multi-pass membrane protein Potential.
Sequence similarities	Belongs to the astrotactin family. Contains 3 EGF-like domains. Contains 1 fibronectin type-III domain.
Sequence caution	The sequence AAF14357.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA31609.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	EGF-like domain Repeat Signal Transmembrane Transmembrane helix
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O75129-1)

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: O75129-2)

The sequence of this isoform differs from the canonical sequence as follows:
     339-389: Missing.

Isoform 3 (identifier: O75129-3)

The sequence of this isoform differs from the canonical sequence as follows:
     584-587: Missing.

Isoform 4 (identifier: O75129-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-899: Missing.
     900-935: YGSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQK → MNTLLCKGMFCLLSWEADSRGRLGEYTLQPLSLQTE

Note: No experimental confirmation available.

Isoform 6 (identifier: O75129-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-948: Missing.
     1334-1339: GESKGR → YLTLSKVSPF

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 49	49	Potential
	Chain	50 – 1339	1290	Astrotactin-2		PRO_0000308252
Regions
	Topological domain	50 – 206	157	Extracellular Potential
	Transmembrane	207 – 227	21	Helical; Potential
	Topological domain	228 – 434	207	Cytoplasmic Potential
	Transmembrane	435 – 455	21	Helical; Potential
	Topological domain	456 – 1339	884	Extracellular Potential
	Domain	510 – 550	41	EGF-like 1
	Domain	651 – 695	45	EGF-like 2
	Domain	699 – 751	53	EGF-like 3
	Domain	1065 – 1188	124	Fibronectin type-III
Amino acid modifications
	Glycosylation	168	1	N-linked (GlcNAc...) Potential
	Glycosylation	783	1	N-linked (GlcNAc...) Potential
	Glycosylation	1020	1	N-linked (GlcNAc...) Potential
	Disulfide bond	514 ↔ 526		By similarity
	Disulfide bond	522 ↔ 533		By similarity
	Disulfide bond	535 ↔ 549		By similarity
	Disulfide bond	655 ↔ 668		By similarity
	Disulfide bond	662 ↔ 679		By similarity
	Disulfide bond	681 ↔ 694		By similarity
	Disulfide bond	703 ↔ 715		By similarity
	Disulfide bond	711 ↔ 735		By similarity
	Disulfide bond	737 ↔ 750		By similarity
Natural variations
	Alternative sequence	1 – 948	948	Missing in isoform 6.		VSP_028930
	Alternative sequence	1 – 899	899	Missing in isoform 4.		VSP_028931
	Alternative sequence	339 – 389	51	Missing in isoform 2.		VSP_028932
	Alternative sequence	584 – 587	4	Missing in isoform 3.		VSP_028933
	Alternative sequence	900 – 935	36	YGSHY…LQYQK → MNTLLCKGMFCLLSWEADSR GRLGEYTLQPLSLQTE in isoform 4.		VSP_028934
	Alternative sequence	1334 – 1339	6	GESKGR → YLTLSKVSPF in isoform 6.		VSP_028937
	Natural variant	70	1	V → I. Corresponds to variant rs16933591 [ dbSNP | Ensembl ].		VAR_036765
	Natural variant	229	1	A → V Found in a clear cell renal carcinoma case; somatic mutation. Ref.7		VAR_064699
	Natural variant	865	1	R → H. Corresponds to variant rs3818503 [ dbSNP | Ensembl ].		VAR_036766
	Natural variant	1149	1	V → I. Corresponds to variant rs16933591 [ dbSNP | Ensembl ].		VAR_036767
	Natural variant	1293	1	V → L in a breast cancer sample; somatic mutation. Ref.6		VAR_036768
Experimental info
	Sequence conflict	1320	1	T → M in AAH29272. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 23, 2007. Version 2. Checksum: 7B914F1A736F798F	FASTA	1,339	148,243
	10 20 30 40 50 60 MAAAGARLSP GPGSGLRGRP RLCFHPGPPP LLPLLLLFLL LLPPPPLLAG ATAAASREPD 70 80 90 100 110 120 SPCRLKTVTV STLPALRESD IGWSGARAGA GAGTGAGAAA AAASPGSPGS AGTAAESRLL 130 140 150 160 170 180 LFVRNELPGR IAVQDDLDNT ELPFFTLEMS GTAADISLVH WRQQWLENGT LYFHVSMSSS 190 200 210 220 230 240 GQLAQATAPT LQEPSEIVEE QMHILHISVM GGLIALLLLL LVFTVALYAQ RRWQKRRRIP 250 260 270 280 290 300 QKSASTEATH EIHYIPSVLL GPQARESFRS SRLQTHNSVI GVPIRETPIL DDYDCEEDEE 310 320 330 340 350 360 PPRRANHVSR EDEFGSQVTH TLDSLGHPGE EKVDFEKKAA AEATQETVES LMQKFKESFR 370 380 390 400 410 420 ANTPIEIGQL QPPLRSTSAG KRKRRSKSRG GISFGRAKGT SGSEADDETQ LTFYTEQYRS 430 440 450 460 470 480 RRRSKGLLKS PVNKTALTLI AVSSCILAMV CGSQMSCPLT VKVTLHVPEH FIADGSSFVV 490 500 510 520 530 540 SEGSYLDISD WLNPAKLSLY YQINATSPWV RDLCGQRTTD ACEQLCDPET GECSCHEGYA 550 560 570 580 590 600 PDPVHRHLCV RSDWGQSEGP WPYTTLERGY DLVTGEQAPE KILRSTFSLG QGLWLPVSKS 610 620 630 640 650 660 FVVPPVELSI NPLASCKTDV LVTEDPADVR EEAMLSTYFE TINDLLSSFG PVRDCSRNNG 670 680 690 700 710 720 GCTRNFKCVS DRQVDSSGCV CPEELKPMKD GSGCYDHSKG IDCSDGFNGG CEQLCLQQTL 730 740 750 760 770 780 PLPYDATSST IFMFCGCVEE YKLAPDGKSC LMLSDVCEGP KCLKPDSKFN DTLFGEMLHG 790 800 810 820 830 840 YNNRTQHVNQ GQVFQMTFRE NNFIKDFPQL ADGLLVIPLP VEEQCRGVLS EPLPDLQLLT 850 860 870 880 890 900 GDIRYDEAMG YPMVQQWRVR SNLYRVKLST ITLAAGFTNV LKILTKESSR EELLSFIQHY 910 920 930 940 950 960 GSHYIAEALY GSELTCIIHF PSKKVQQQLW LQYQKETTEL GSKKELKSMP FITYLSGLLT 970 980 990 1000 1010 1020 AQMLSDDQLI SGVEIRCEEK GRCPSTCHLC RRPGKEQLSP TPVLLEINRV VPLYTLIQDN 1030 1040 1050 1060 1070 1080 GTKEAFKSAL MSSYWCSGKG DVIDDWCRCD LSAFDANGLP NCSPLLQPVL RLSPTVEPSS 1090 1100 1110 1120 1130 1140 TVVSLEWVDV QPAIGTKVSD YILQHKKVDE YTDTDLYTGE FLSFADDLLS GLGTSCVAAG 1150 1160 1170 1180 1190 1200 RSHGEVPEVS IYSVIFKCLE PDGLYKFTLY AVDTRGRHSE LSTVTLRTAC PLVDDNKAEE 1210 1220 1230 1240 1250 1260 IADKIYNLYN GYTSGKEQQM AYNTLMEVSA SMLFRVQHHY NSHYEKFGDF VWRSEDELGP 1270 1280 1290 1300 1310 1320 RKAHLILRRL ERVSSHCSSL LRSAYIQSRV ETVPYLFCRS EEVRPAGMVW YSILKDTKIT 1330 CEEKMVSMAR NTYGESKGR
	Isoform 2 [UniParc]. Checksum: 7136F3D8ACFE0733	FASTA	1,288	142,544
	10 20 30 40 50 60 MAAAGARLSP GPGSGLRGRP RLCFHPGPPP LLPLLLLFLL LLPPPPLLAG ATAAASREPD 70 80 90 100 110 120 SPCRLKTVTV STLPALRESD IGWSGARAGA GAGTGAGAAA AAASPGSPGS AGTAAESRLL 130 140 150 160 170 180 LFVRNELPGR IAVQDDLDNT ELPFFTLEMS GTAADISLVH WRQQWLENGT LYFHVSMSSS 190 200 210 220 230 240 GQLAQATAPT LQEPSEIVEE QMHILHISVM GGLIALLLLL LVFTVALYAQ RRWQKRRRIP 250 260 270 280 290 300 QKSASTEATH EIHYIPSVLL GPQARESFRS SRLQTHNSVI GVPIRETPIL DDYDCEEDEE 310 320 330 340 350 360 PPRRANHVSR EDEFGSQVTH TLDSLGHPGE EKVDFEKKGG ISFGRAKGTS GSEADDETQL 370 380 390 400 410 420 TFYTEQYRSR RRSKGLLKSP VNKTALTLIA VSSCILAMVC GSQMSCPLTV KVTLHVPEHF 430 440 450 460 470 480 IADGSSFVVS EGSYLDISDW LNPAKLSLYY QINATSPWVR DLCGQRTTDA CEQLCDPETG 490 500 510 520 530 540 ECSCHEGYAP DPVHRHLCVR SDWGQSEGPW PYTTLERGYD LVTGEQAPEK ILRSTFSLGQ 550 560 570 580 590 600 GLWLPVSKSF VVPPVELSIN PLASCKTDVL VTEDPADVRE EAMLSTYFET INDLLSSFGP 610 620 630 640 650 660 VRDCSRNNGG CTRNFKCVSD RQVDSSGCVC PEELKPMKDG SGCYDHSKGI DCSDGFNGGC 670 680 690 700 710 720 EQLCLQQTLP LPYDATSSTI FMFCGCVEEY KLAPDGKSCL MLSDVCEGPK CLKPDSKFND 730 740 750 760 770 780 TLFGEMLHGY NNRTQHVNQG QVFQMTFREN NFIKDFPQLA DGLLVIPLPV EEQCRGVLSE 790 800 810 820 830 840 PLPDLQLLTG DIRYDEAMGY PMVQQWRVRS NLYRVKLSTI TLAAGFTNVL KILTKESSRE 850 860 870 880 890 900 ELLSFIQHYG SHYIAEALYG SELTCIIHFP SKKVQQQLWL QYQKETTELG SKKELKSMPF 910 920 930 940 950 960 ITYLSGLLTA QMLSDDQLIS GVEIRCEEKG RCPSTCHLCR RPGKEQLSPT PVLLEINRVV 970 980 990 1000 1010 1020 PLYTLIQDNG TKEAFKSALM SSYWCSGKGD VIDDWCRCDL SAFDANGLPN CSPLLQPVLR 1030 1040 1050 1060 1070 1080 LSPTVEPSST VVSLEWVDVQ PAIGTKVSDY ILQHKKVDEY TDTDLYTGEF LSFADDLLSG 1090 1100 1110 1120 1130 1140 LGTSCVAAGR SHGEVPEVSI YSVIFKCLEP DGLYKFTLYA VDTRGRHSEL STVTLRTACP 1150 1160 1170 1180 1190 1200 LVDDNKAEEI ADKIYNLYNG YTSGKEQQMA YNTLMEVSAS MLFRVQHHYN SHYEKFGDFV 1210 1220 1230 1240 1250 1260 WRSEDELGPR KAHLILRRLE RVSSHCSSLL RSAYIQSRVE TVPYLFCRSE EVRPAGMVWY 1270 1280 SILKDTKITC EEKMVSMARN TYGESKGR
	Isoform 3 [UniParc]. Checksum: 598978297C7DC986	FASTA	1,335	147,752
	10 20 30 40 50 60 MAAAGARLSP GPGSGLRGRP RLCFHPGPPP LLPLLLLFLL LLPPPPLLAG ATAAASREPD 70 80 90 100 110 120 SPCRLKTVTV STLPALRESD IGWSGARAGA GAGTGAGAAA AAASPGSPGS AGTAAESRLL 130 140 150 160 170 180 LFVRNELPGR IAVQDDLDNT ELPFFTLEMS GTAADISLVH WRQQWLENGT LYFHVSMSSS 190 200 210 220 230 240 GQLAQATAPT LQEPSEIVEE QMHILHISVM GGLIALLLLL LVFTVALYAQ RRWQKRRRIP 250 260 270 280 290 300 QKSASTEATH EIHYIPSVLL GPQARESFRS SRLQTHNSVI GVPIRETPIL DDYDCEEDEE 310 320 330 340 350 360 PPRRANHVSR EDEFGSQVTH TLDSLGHPGE EKVDFEKKAA AEATQETVES LMQKFKESFR 370 380 390 400 410 420 ANTPIEIGQL QPPLRSTSAG KRKRRSKSRG GISFGRAKGT SGSEADDETQ LTFYTEQYRS 430 440 450 460 470 480 RRRSKGLLKS PVNKTALTLI AVSSCILAMV CGSQMSCPLT VKVTLHVPEH FIADGSSFVV 490 500 510 520 530 540 SEGSYLDISD WLNPAKLSLY YQINATSPWV RDLCGQRTTD ACEQLCDPET GECSCHEGYA 550 560 570 580 590 600 PDPVHRHLCV RSDWGQSEGP WPYTTLERGY DLVTGEQAPE KILSLGQGLW LPVSKSFVVP 610 620 630 640 650 660 PVELSINPLA SCKTDVLVTE DPADVREEAM LSTYFETIND LLSSFGPVRD CSRNNGGCTR 670 680 690 700 710 720 NFKCVSDRQV DSSGCVCPEE LKPMKDGSGC YDHSKGIDCS DGFNGGCEQL CLQQTLPLPY 730 740 750 760 770 780 DATSSTIFMF CGCVEEYKLA PDGKSCLMLS DVCEGPKCLK PDSKFNDTLF GEMLHGYNNR 790 800 810 820 830 840 TQHVNQGQVF QMTFRENNFI KDFPQLADGL LVIPLPVEEQ CRGVLSEPLP DLQLLTGDIR 850 860 870 880 890 900 YDEAMGYPMV QQWRVRSNLY RVKLSTITLA AGFTNVLKIL TKESSREELL SFIQHYGSHY 910 920 930 940 950 960 IAEALYGSEL TCIIHFPSKK VQQQLWLQYQ KETTELGSKK ELKSMPFITY LSGLLTAQML 970 980 990 1000 1010 1020 SDDQLISGVE IRCEEKGRCP STCHLCRRPG KEQLSPTPVL LEINRVVPLY TLIQDNGTKE 1030 1040 1050 1060 1070 1080 AFKSALMSSY WCSGKGDVID DWCRCDLSAF DANGLPNCSP LLQPVLRLSP TVEPSSTVVS 1090 1100 1110 1120 1130 1140 LEWVDVQPAI GTKVSDYILQ HKKVDEYTDT DLYTGEFLSF ADDLLSGLGT SCVAAGRSHG 1150 1160 1170 1180 1190 1200 EVPEVSIYSV IFKCLEPDGL YKFTLYAVDT RGRHSELSTV TLRTACPLVD DNKAEEIADK 1210 1220 1230 1240 1250 1260 IYNLYNGYTS GKEQQMAYNT LMEVSASMLF RVQHHYNSHY EKFGDFVWRS EDELGPRKAH 1270 1280 1290 1300 1310 1320 LILRRLERVS SHCSSLLRSA YIQSRVETVP YLFCRSEEVR PAGMVWYSIL KDTKITCEEK 1330 MVSMARNTYG ESKGR
	Isoform 4 [UniParc]. Checksum: CAF4E32F3DFBA9DA	FASTA	440	49,558
	10 20 30 40 50 60 MNTLLCKGMF CLLSWEADSR GRLGEYTLQP LSLQTEETTE LGSKKELKSM PFITYLSGLL 70 80 90 100 110 120 TAQMLSDDQL ISGVEIRCEE KGRCPSTCHL CRRPGKEQLS PTPVLLEINR VVPLYTLIQD 130 140 150 160 170 180 NGTKEAFKSA LMSSYWCSGK GDVIDDWCRC DLSAFDANGL PNCSPLLQPV LRLSPTVEPS 190 200 210 220 230 240 STVVSLEWVD VQPAIGTKVS DYILQHKKVD EYTDTDLYTG EFLSFADDLL SGLGTSCVAA 250 260 270 280 290 300 GRSHGEVPEV SIYSVIFKCL EPDGLYKFTL YAVDTRGRHS ELSTVTLRTA CPLVDDNKAE 310 320 330 340 350 360 EIADKIYNLY NGYTSGKEQQ MAYNTLMEVS ASMLFRVQHH YNSHYEKFGD FVWRSEDELG 370 380 390 400 410 420 PRKAHLILRR LERVSSHCSS LLRSAYIQSR VETVPYLFCR SEEVRPAGMV WYSILKDTKI 430 440 TCEEKMVSMA RNTYGESKGR
	Isoform 6 [UniParc]. Checksum: 54514BC7B749E4B8	FASTA	395	44,561
	10 20 30 40 50 60 MPFITYLSGL LTAQMLSDDQ LISGVEIRCE EKGRCPSTCH LCRRPGKEQL SPTPVLLEIN 70 80 90 100 110 120 RVVPLYTLIQ DNGTKEAFKS ALMSSYWCSG KGDVIDDWCR CDLSAFDANG LPNCSPLLQP 130 140 150 160 170 180 VLRLSPTVEP SSTVVSLEWV DVQPAIGTKV SDYILQHKKV DEYTDTDLYT GEFLSFADDL 190 200 210 220 230 240 LSGLGTSCVA AGRSHGEVPE VSIYSVIFKC LEPDGLYKFT LYAVDTRGRH SELSTVTLRT 250 260 270 280 290 300 ACPLVDDNKA EEIADKIYNL YNGYTSGKEQ QMAYNTLMEV SASMLFRVQH HYNSHYEKFG 310 320 330 340 350 360 DFVWRSEDEL GPRKAHLILR RLERVSSHCS SLLRSAYIQS RVETVPYLFC RSEEVRPAGM 370 380 390 VWYSILKDTK ITCEEKMVSM ARNTYYLTLS KVSPF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:169-176(1998) [PubMed: 9734811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[2]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 4 AND 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 532-1339 (ISOFORM 3). Tissue: Brain, Cervix and Eye.
[4]	"Molecular cloning of human astrotactin-2." Tomoda T. Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 227-1339 (ISOFORM 2). Tissue: Uterus.
[5]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 274-470 (ISOFORM 1).
[6]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-1293.
[7]	"Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma." Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M. , Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A. Nature 469:539-542(2011) [PubMed: 21248752] [Abstract] Cited for: VARIANT VAL-229.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB014534 mRNA. Translation: BAA31609.1. Different initiation. AL133284, AL133282, AL137024 Genomic DNA. Translation: CAM22874.1. AL133284 , AL133282, AL137024, AL157829, AL354981, AL355608, AL358792, AL392085 Genomic DNA. Translation: CAI16371.1. AL358792 , AL133282, AL133284, AL137024, AL157829, AL354981, AL355608, AL392085 Genomic DNA. Translation: CAH71966.1. AL157829 , AL133282, AL133284, AL137024, AL354981, AL355608, AL358792, AL392085 Genomic DNA. Translation: CAH72264.1. AL133284 Genomic DNA. Translation: CAI16369.1. AL133284, AL133282, AL137024 Genomic DNA. Translation: CAI16370.1. AL133282 , AL133284, AL137024, AL157829, AL354981, AL355608, AL358792, AL392085 Genomic DNA. Translation: CAI39864.1. AL133282, AL133284, AL137024 Genomic DNA. Translation: CAM15245.1. BC018759 mRNA. Translation: AAH18759.2. BC029272 mRNA. Translation: AAH29272.1. BC093835 mRNA. Translation: AAH93835.2. BC101667 mRNA. Translation: AAI01668.1. BC146756 mRNA. Translation: AAI46757.1. AF116574 mRNA. Translation: AAF14357.1. Different initiation. DA336442 mRNA. No translation available.
IPI	IPI00297431. IPI00377077. IPI00377078. IPI00413773. IPI00514125.
PIR	T00382.
RefSeq	NP_001171664.1. NM_001184735.1. NP_054729.3. NM_014010.4. NP_937829.3. NM_198186.3. NP_937831.1. NM_198188.2.
UniGene	Hs.601562.
3D structure databases
ProteinModelPortal	O75129.
SMR	O75129. Positions 702-751, 850-926.
ModBase	Search...
Protein-protein interaction databases
STRING	O75129.
PTM databases
PhosphoSite	O75129.
Proteomic databases
PRIDE	O75129.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000313400; ENSP00000314038; ENSG00000148219. ENST00000361209; ENSP00000354504; ENSG00000148219.
GeneID	23245.
KEGG	hsa:23245.
UCSC	uc004bjp.1. human. uc004bjq.1. human. uc004bjs.1. human. uc004bjv.1. human.
Organism-specific databases
CTD	23245.
GeneCards	GC09M119187.
HGNC	HGNC:17021. ASTN2.
HPA	HPA027035.
MIM	612856. gene.
neXtProt	NX_O75129.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000003140.
HOVERGEN	HBG050597.
OMA	IGWSGAR.
OrthoDB	EOG4R7V8Z.
Gene expression databases
ArrayExpress	O75129.
Bgee	O75129.
CleanEx	HS_ASTN2.
Genevestigator	O75129.
Family and domain databases
InterPro	IPR003961. Fibronectin_type3. IPR013783. Ig-like_fold. IPR020864. MACPF. [Graphical view]
Gene3D	G3DSA:2.60.40.10. Ig-like_fold. 1 hit.
Pfam	PF01823. MACPF. 1 hit. [Graphical view]
SMART	SM00060. FN3. 1 hit. SM00457. MACPF. 1 hit. [Graphical view]
SUPFAM	SSF49265. FN_III-like. 1 hit.
PROSITE	PS00022. EGF_1. False negative. PS01186. EGF_2. False negative. PS50026. EGF_3. False negative. PS50853. FN3. False negative. [Graphical view]
ProtoNet	Search...
Other
NextBio	44924.
SOURCE	Search...

Entry information

Entry name

ASTN2_HUMAN

Accession

Primary (citable) accession number: O75129
Secondary accession number(s): A2A2T7 , A2A2T9, Q52LQ2, Q5JVX8, Q5JVX9, Q5JVY1, Q5VXG8, Q5VZX6, Q8N6P8, Q8WV47, Q96FL4, Q9UHW6

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
Last sequence update:	October 23, 2007
Last modified:	January 25, 2012
This is version 82 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.