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Q7Z553 (MDGA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 116. 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:
MAM domain-containing glycosylphosphatidylinositol anchor protein 2
Alternative name(s):
MAM domain-containing protein 1
Gene names
Name:MDGA2
Synonyms:MAMDC1
ORF Names:UNQ8188/PRO23197
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length956 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in cell-cell interactions By similarity.

Subunit structure

Interacts (through the Ig-like domains) with NLGN2 By similarity.

Subcellular location

Cell membrane; Lipid-anchorGPI-anchor Potential.

Tissue specificity

Detected in Leydig cells, syncytiotrophoblast, duodenal villi epithelial cells and neutrophils from kidney and cutaneous squamous cell carcinoma (at protein level). Ref.6

Sequence similarities

Contains 1 fibronectin type-III domain.

Contains 6 Ig-like (immunoglobulin-like) domains.

Contains 1 MAM domain.

Sequence caution

The sequence AAP97010.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z553-1)

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: Q7Z553-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-229: Missing.
Isoform 3 (identifier: Q7Z553-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSVWSAGLLRSARRRRRGRTDGRRFLLRRAVPGHLGLARARVERAWLAAGLLKVPLRTPWAGYVHVHVKM
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2525 Potential
Chain26 – 931906MAM domain-containing glycosylphosphatidylinositol anchor protein 2
PRO_0000014859
Propeptide932 – 95625Removed in mature form Potential
PRO_0000292043

Regions

Domain27 – 127101Ig-like 1
Domain134 – 23299Ig-like 2
Domain242 – 32887Ig-like 3
Domain340 – 43697Ig-like 4
Domain442 – 53392Ig-like 5
Domain540 – 62788Ig-like 6
Domain638 – 739102Fibronectin type-III
Domain746 – 921176MAM

Amino acid modifications

Lipidation9311GPI-anchor amidated aspartate Potential
Glycosylation921N-linked (GlcNAc...) Potential
Glycosylation2131N-linked (GlcNAc...) Potential
Glycosylation2371N-linked (GlcNAc...) Potential
Glycosylation4341N-linked (GlcNAc...) Potential
Glycosylation4431N-linked (GlcNAc...) Potential
Glycosylation5041N-linked (GlcNAc...) Potential
Glycosylation6101N-linked (GlcNAc...) Potential
Glycosylation7031N-linked (GlcNAc...) Potential
Disulfide bond62 ↔ 110 By similarity
Disulfide bond159 ↔ 216 By similarity
Disulfide bond264 ↔ 310 By similarity
Disulfide bond359 ↔ 417 By similarity
Disulfide bond465 ↔ 515 By similarity
Disulfide bond561 ↔ 611 By similarity

Natural variations

Alternative sequence1 – 229229Missing in isoform 2.
VSP_042468
Alternative sequence11M → MSVWSAGLLRSARRRRRGRT DGRRFLLRRAVPGHLGLARA RVERAWLAAGLLKVPLRTPW AGYVHVHVKM in isoform 3.
VSP_045240
Natural variant6081V → F.
Corresponds to variant rs12590500 [ dbSNP | Ensembl ].
VAR_059400

Experimental info

Sequence conflict19 – 246SGQGVY → EHLVIQ in AAQ88492. Ref.3
Sequence conflict711Missing in AAQ88492. Ref.3
Sequence conflict4571E → Q in AK309211. Ref.2
Sequence conflict4791R → K in AK309211. Ref.2
Sequence conflict5041N → S in AK309211. Ref.2
Sequence conflict5541D → N in AAQ88492. Ref.3
Sequence conflict9301V → I in AK309211. Ref.2
Isoform 3:
Sequence conflict501G → S in AK309211. Ref.2

Sequences

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

Last modified April 13, 2004. Version 2.
Checksum: 6B70534BD35489B9

FASTA956107,436
        10         20         30         40         50         60 
MDLLYGLVWL LTVLLEGISG QGVYAPPTVR IVHSGLACNI EEERYSERVY TIREGETLEL 

        70         80         90        100        110        120 
TCLVTGHPRP QIRWTKTAGS ASDRFQDSSV FNETLRITNI QRHQGGRYYC KAENGLGSPA 

       130        140        150        160        170        180 
IKSIRVDVYY LDDPVVTVHQ SIGEAKEQFY YERTVFLRCV ANSNPPVRYS WRRGQEVLLQ 

       190        200        210        220        230        240 
GSDKGVEIYE PFFTQGETKI LKLKNLRPQD YANYSCIASV RNVCNIPDKM VSFRLSNKTA 

       250        260        270        280        290        300 
SPSIKLLVDD PIVVNPGEAI TLVCVTTGGE PAPSLTWVRS FGTLPEKTVL NGGTLTIPAI 

       310        320        330        340        350        360 
TSDDAGTYSC IANNNVGNPA KKSTNIIVRA LKKGRFWITP DPYHKDDNIQ IGREVKISCQ 

       370        380        390        400        410        420 
VEAVPSEELT FSWFKNGRPL RSSERMVITQ TDPDVSPGTT NLDIIDLKFT DFGTYTCVAS 

       430        440        450        460        470        480 
LKGGGISDIS IDVNISSSTV PPNLTVPQEK SPLVTREGDT IELQCQVTGK PKPIILWSRA 

       490        500        510        520        530        540 
DKEVAMPDGS MQMESYDGTL RIVNVSREMS GMYRCQTSQY NGFNVKPREA LVQLIVQYPP 

       550        560        570        580        590        600 
AVEPAFLEIR QGQDRSVTMS CRVLRAYPIR VLTYEWRLGN KLLRTGQFDS QEYTEYAVKS 

       610        620        630        640        650        660 
LSNENYGVYN CSIINEAGAG RCSFLVTGKA YAPEFYYDTY NPVWQNRHRV YSYSLQWTQM 

       670        680        690        700        710        720 
NPDAVDRIVA YRLGIRQAGQ QRWWEQEIKI NGNIQKGELI TYNLTELIKP EAYEVRLTPL 

       730        740        750        760        770        780 
TKFGEGDSTI RVIKYSAPVN PHLREFHCGF EDGNICLFTQ DDTDNFDWTK QSTATRNTKY 

       790        800        810        820        830        840 
TPNTGPNADR SGSKEGFYMY IETSRPRLEG EKARLLSPVF SIAPKNPYGP TNTAYCFSFF 

       850        860        870        880        890        900 
YHMYGQHIGV LNVYLRLKGQ TTIENPLWSS SGNKGQRWNE AHVNIYPITS FQLIFEGIRG 

       910        920        930        940        950 
PGIEGDIAID DVSIAEGECA KQDLATKNSV DGAVGILVHI WLFPIIVLIS ILSPRR 

« Hide

Isoform 2 [UniParc].

Checksum: 24465F56F955F261
Show »

FASTA72781,364
Isoform 3 [UniParc].

Checksum: FC5403A869640428
Show »

FASTA1,025115,310

References

« Hide 'large scale' references
[1]Huang C.Q., Wu S.L., Liu S.
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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] (ISOFORM 3).
Tissue: Thalamus.
[3]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 19-956 (ISOFORM 1).
[5]"Cloning and characterization of a novel human MAMDC1 gene."
Shan Y.X., Yu L.
Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 335-956 (ISOFORMS 1/2).
[6]"Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE)."
Hellquist A., Zucchelli M., Lindgren C.M., Saarialho-Kere U., Jaervinen T.M., Koskenmies S., Julkunen H., Onkamo P., Skoog T., Panelius J., Raeisanen-Sokolowski A., Hasan T., Widen E., Gunnarson I., Svenungsson E., Padyukov L., Assadi G., Berglind L. expand/collapse author list , Maekelae V.V., Kivinen K., Wong A., Cunningham Graham D.S., Vyse T.J., D'Amato M., Kere J.
PLoS ONE 4:E8037-E8037(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY369208 mRNA. Translation: AAQ73312.1.
AY358125 mRNA. Translation: AAQ88492.1.
AK309211 mRNA. No translation available.
AL079306 Genomic DNA. No translation available.
AL157792 Genomic DNA. No translation available.
AL162551 Genomic DNA. No translation available.
AL358832 Genomic DNA. No translation available.
AL359951 Genomic DNA. No translation available.
AL591771 Genomic DNA. No translation available.
AY328482 mRNA. Translation: AAP97010.1. Different initiation.
RefSeqNP_001106970.3. NM_001113498.2.
NP_878250.2. NM_182830.4.
UniGeneHs.436380.

3D structure databases

ProteinModelPortalQ7Z553.
SMRQ7Z553. Positions 11-618, 748-921.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127785. 1 interaction.
STRING9606.ENSP00000382178.

Protein family/group databases

MEROPSI43.001.

PTM databases

PhosphoSiteQ7Z553.

Polymorphism databases

DMDM46403175.

Proteomic databases

PaxDbQ7Z553.
PRIDEQ7Z553.

Protocols and materials databases

DNASU161357.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000357362; ENSP00000349925; ENSG00000139915. [Q7Z553-2]
ENST00000399232; ENSP00000382178; ENSG00000139915. [Q7Z553-1]
ENST00000426342; ENSP00000405456; ENSG00000139915. [Q7Z553-2]
GeneID161357.
KEGGhsa:161357.
UCSCuc001wwi.4. human. [Q7Z553-1]
uc010ani.3. human. [Q7Z553-2]

Organism-specific databases

CTD161357.
GeneCardsGC14M047309.
H-InvDBHIX0026644.
HGNCHGNC:19835. MDGA2.
HPAHPA003084.
MIM611128. gene.
neXtProtNX_Q7Z553.
PharmGKBPA162395090.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG126204.
HOGENOMHOG000015243.
HOVERGENHBG052403.
InParanoidQ7Z553.
OMAKQDLATK.
OrthoDBEOG7NCV2N.
PhylomeDBQ7Z553.
TreeFamTF330345.

Gene expression databases

ArrayExpressQ7Z553.
BgeeQ7Z553.
CleanExHS_MDGA2.
GenevestigatorQ7Z553.

Family and domain databases

Gene3D2.60.40.10. 7 hits.
InterProIPR008985. ConA-like_lec_gl_sf.
IPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR000998. MAM_dom.
[Graphical view]
PfamPF07679. I-set. 3 hits.
PF00629. MAM. 1 hit.
[Graphical view]
SMARTSM00409. IG. 1 hit.
SM00408. IGc2. 4 hits.
SM00137. MAM. 1 hit.
[Graphical view]
SUPFAMSSF49265. SSF49265. 1 hit.
SSF49899. SSF49899. 1 hit.
PROSITEPS50853. FN3. 1 hit.
PS50835. IG_LIKE. 6 hits.
PS50060. MAM_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMDGA2. human.
GenomeRNAi161357.
NextBio35535227.
PROQ7Z553.
SOURCESearch...

Entry information

Entry nameMDGA2_HUMAN
AccessionPrimary (citable) accession number: Q7Z553
Secondary accession number(s): F6W3S7, J3KPX6
Entry history
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 13, 2004
Last modified: April 16, 2014
This is version 116 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 14

Human chromosome 14: entries, gene names and cross-references to MIM