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Reviewed, UniProtKB/Swiss-Prot O75129 (ASTN2_HUMAN)

Last modified November 24, 2009. Version 60. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Astrotactin-2
Gene names
Name: ASTN2
Synonyms: KIAA0634
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1339 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainEGF-like domain
Repeat
Signal
Transmembrane
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Gene Ontology (GO)
   Cellular componentintegral to membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 4949 Potential
Chain50 – 13391290Astrotactin-2
PRO_0000308252

Regions

Topological domain50 – 206157Extracellular Potential
Transmembrane207 – 22721 Potential
Topological domain228 – 434207Cytoplasmic Potential
Transmembrane435 – 45521 Potential
Topological domain456 – 1339884Extracellular Potential
Domain510 – 55041EGF-like 1
Domain651 – 69545EGF-like 2
Domain699 – 75153EGF-like 3
Domain1065 – 1188124Fibronectin type-III

Amino acid modifications

Glycosylation1681N-linked (GlcNAc...) Potential
Glycosylation7831N-linked (GlcNAc...) Potential
Glycosylation10201N-linked (GlcNAc...) Potential
Disulfide bond514 ↔ 526 By similarity
Disulfide bond522 ↔ 533 By similarity
Disulfide bond535 ↔ 549 By similarity
Disulfide bond655 ↔ 668 By similarity
Disulfide bond662 ↔ 679 By similarity
Disulfide bond681 ↔ 694 By similarity
Disulfide bond703 ↔ 715 By similarity
Disulfide bond711 ↔ 735 By similarity
Disulfide bond737 ↔ 750 By similarity

Natural variations

Alternative sequence1 – 948948Missing in isoform 6.
VSP_028930
Alternative sequence1 – 899899Missing in isoform 4.
VSP_028931
Alternative sequence339 – 38951Missing in isoform 2.
VSP_028932
Alternative sequence584 – 5874Missing in isoform 3.
VSP_028933
Alternative sequence900 – 93536YGSHY…LQYQK → MNTLLCKGMFCLLSWEADSR GRLGEYTLQPLSLQTE in isoform 4.
VSP_028934
Alternative sequence1334 – 13396GESKGR → YLTLSKVSPF in isoform 6.
VSP_028937
Natural variant701V → I: dbSNP rs16933591.
VAR_036765
Natural variant8651R → H: dbSNP rs3818503.
VAR_036766
Natural variant11491V → I: dbSNP rs16933591.
VAR_036767
Natural variant12931V → L in a breast cancer sample; somatic mutation. Ref.6
VAR_036768

Experimental info

Sequence conflict13201T → M in AAH29272. Ref.3

Sequences

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

Last modified October 23, 2007. Version 2.
Checksum: 7B914F1A736F798F

FASTA1,339148,243
        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 

« Hide

Isoform 2.

Checksum: 7136F3D8ACFE0733
Show »

FASTA1,288142,544
Isoform 3.

Checksum: 598978297C7DC986
Show »

FASTA1,335147,752
Isoform 4.

Checksum: CAF4E32F3DFBA9DA
Show »

FASTA44049,558
Isoform 6.

Checksum: 54514BC7B749E4B8
Show »

FASTA39544,561

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. expand/collapse author list , 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. 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: 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

AB014534 mRNA. Translation: BAA31609.1. Different initiation.
AL133284, AL133282, AL137024 Genomic DNA. Translation: CAM22874.1.
AL133284 expand/collapse EMBL AC list , AL133282, AL137024, AL157829, AL354981, AL355608, AL358792, AL392085 Genomic DNA. Translation: CAI16371.1.
AL358792 expand/collapse EMBL AC list , AL133282, AL133284, AL137024, AL157829, AL354981, AL355608, AL392085 Genomic DNA. Translation: CAH71966.1.
AL157829 expand/collapse EMBL AC list , 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 expand/collapse EMBL AC list , 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.
IPIIPI00297431.
IPI00305238.
IPI00377077.
IPI00377078.
IPI00413773.
IPI00514125.
PIRT00382.
RefSeqNP_054729.3.
NP_937829.2.
NP_937830.2.
NP_937831.1.
UniGeneHs.601562

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteO75129.

Proteomic databases

PRIDEO75129.

Genome annotation databases

EnsemblENST00000313400; ENSP00000314038; ENSG00000148219; Homo sapiens. [Genome view]
ENST00000361209; ENSP00000354504; ENSG00000148219; Homo sapiens. [Genome view]
GeneID23245.
KEGGhsa:23245.
UCSCuc004bjp.1. human.
uc004bjq.1. human.
uc004bjs.1. human.
uc004bjv.1. human.

Organism-specific databases

CTD23245.
GeneCardsGC09M118227.
HGNCHGNC:17021. ASTN2.
HPAHPA027035.
PharmGKBPA25076.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

HOVERGENO75129.
OMAVDSSGCV
OrthoDBEOG9F4VWH

Gene expression databases

ArrayExpressO75129.
BgeeO75129.
CleanExHS_ASTN2.
GenevestigatorO75129.

Family and domain databases

InterProIPR008957. Fibronectin_typ-III-like_fold.
IPR003961. FN_III.
IPR020865. MACPF_met.
[Graphical view]
PfamPF00041. fn3. 1 hit.
[Graphical view]
SMARTSM00060. FN3. 1 hit.
SM00457. MACPF. 1 hit.
[Graphical view]
PROSITEPS00022. EGF_1. False negative.
PS01186. EGF_2. False negative.
PS50026. EGF_3. False negative.
PS50853. FN3. False negative.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio44924.

Entry information

Entry nameASTN2_HUMAN
AccessionPrimary (citable) accession number: O75129
Secondary accession number(s): A2A2T7 expand/collapse secondary AC list , 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: November 24, 2009
This is version 60 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents