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Q7Z553

- MDGA2_HUMAN

UniProt

Q7Z553 - MDGA2_HUMAN

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Protein

MAM domain-containing glycosylphosphatidylinositol anchor protein 2

Gene

MDGA2

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

Functioni

May be involved in cell-cell interactions.By similarity

GO - Biological processi

  1. pattern specification process Source: Ensembl
  2. spinal cord motor neuron differentiation Source: HGNC
Complete GO annotation...

Protein family/group databases

MEROPSiI43.001.

Names & Taxonomyi

Protein namesi
Recommended name:
MAM domain-containing glycosylphosphatidylinositol anchor protein 2
Alternative name(s):
MAM domain-containing protein 1
Gene namesi
Name:MDGA2
Synonyms:MAMDC1
ORF Names:UNQ8188/PRO23197
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:19835. MDGA2.

Subcellular locationi

GO - Cellular componenti

  1. anchored component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162395090.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2525Sequence AnalysisAdd
BLAST
Chaini26 – 931906MAM domain-containing glycosylphosphatidylinositol anchor protein 2PRO_0000014859Add
BLAST
Propeptidei932 – 95625Removed in mature formSequence AnalysisPRO_0000292043Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi62 ↔ 110PROSITE-ProRule annotation
Glycosylationi92 – 921N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi159 ↔ 216PROSITE-ProRule annotation
Glycosylationi213 – 2131N-linked (GlcNAc...)Sequence Analysis
Glycosylationi237 – 2371N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi264 ↔ 310PROSITE-ProRule annotation
Disulfide bondi359 ↔ 417PROSITE-ProRule annotation
Glycosylationi434 – 4341N-linked (GlcNAc...)Sequence Analysis
Glycosylationi443 – 4431N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi465 ↔ 515PROSITE-ProRule annotation
Glycosylationi504 – 5041N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi561 ↔ 611PROSITE-ProRule annotation
Glycosylationi610 – 6101N-linked (GlcNAc...)Sequence Analysis
Glycosylationi703 – 7031N-linked (GlcNAc...)Sequence Analysis
Lipidationi931 – 9311GPI-anchor amidated aspartateSequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

PaxDbiQ7Z553.
PRIDEiQ7Z553.

PTM databases

PhosphoSiteiQ7Z553.

Expressioni

Tissue specificityi

Detected in Leydig cells, syncytiotrophoblast, duodenal villi epithelial cells and neutrophils from kidney and cutaneous squamous cell carcinoma (at protein level).1 Publication

Gene expression databases

BgeeiQ7Z553.
CleanExiHS_MDGA2.
ExpressionAtlasiQ7Z553. baseline and differential.
GenevestigatoriQ7Z553.

Organism-specific databases

HPAiHPA003084.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi127785. 1 interaction.
STRINGi9606.ENSP00000382178.

Structurei

3D structure databases

ProteinModelPortaliQ7Z553.
SMRiQ7Z553. Positions 11-618, 748-921.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini27 – 127101Ig-like 1Add
BLAST
Domaini134 – 23299Ig-like 2Add
BLAST
Domaini242 – 32887Ig-like 3Add
BLAST
Domaini340 – 43697Ig-like 4Add
BLAST
Domaini442 – 53392Ig-like 5Add
BLAST
Domaini540 – 62788Ig-like 6Add
BLAST
Domaini638 – 739102Fibronectin type-IIIPROSITE-ProRule annotationAdd
BLAST
Domaini746 – 921176MAMPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation
Contains 1 MAM domain.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

eggNOGiNOG126204.
GeneTreeiENSGT00720000108445.
HOGENOMiHOG000015243.
HOVERGENiHBG052403.
InParanoidiQ7Z553.
OMAiKQDLATK.
OrthoDBiEOG7NCV2N.
PhylomeDBiQ7Z553.
TreeFamiTF330345.

Family and domain databases

Gene3Di2.60.40.10. 7 hits.
InterProiIPR013320. ConA-like_dom.
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]
PfamiPF07679. I-set. 3 hits.
PF00629. MAM. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
SM00408. IGc2. 4 hits.
SM00137. MAM. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
SSF49899. SSF49899. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
PS50835. IG_LIKE. 6 hits.
PS50060. MAM_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q7Z553-1) [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
MDLLYGLVWL LTVLLEGISG QGVYAPPTVR IVHSGLACNI EEERYSERVY
60 70 80 90 100
TIREGETLEL TCLVTGHPRP QIRWTKTAGS ASDRFQDSSV FNETLRITNI
110 120 130 140 150
QRHQGGRYYC KAENGLGSPA IKSIRVDVYY LDDPVVTVHQ SIGEAKEQFY
160 170 180 190 200
YERTVFLRCV ANSNPPVRYS WRRGQEVLLQ GSDKGVEIYE PFFTQGETKI
210 220 230 240 250
LKLKNLRPQD YANYSCIASV RNVCNIPDKM VSFRLSNKTA SPSIKLLVDD
260 270 280 290 300
PIVVNPGEAI TLVCVTTGGE PAPSLTWVRS FGTLPEKTVL NGGTLTIPAI
310 320 330 340 350
TSDDAGTYSC IANNNVGNPA KKSTNIIVRA LKKGRFWITP DPYHKDDNIQ
360 370 380 390 400
IGREVKISCQ VEAVPSEELT FSWFKNGRPL RSSERMVITQ TDPDVSPGTT
410 420 430 440 450
NLDIIDLKFT DFGTYTCVAS LKGGGISDIS IDVNISSSTV PPNLTVPQEK
460 470 480 490 500
SPLVTREGDT IELQCQVTGK PKPIILWSRA DKEVAMPDGS MQMESYDGTL
510 520 530 540 550
RIVNVSREMS GMYRCQTSQY NGFNVKPREA LVQLIVQYPP AVEPAFLEIR
560 570 580 590 600
QGQDRSVTMS CRVLRAYPIR VLTYEWRLGN KLLRTGQFDS QEYTEYAVKS
610 620 630 640 650
LSNENYGVYN CSIINEAGAG RCSFLVTGKA YAPEFYYDTY NPVWQNRHRV
660 670 680 690 700
YSYSLQWTQM NPDAVDRIVA YRLGIRQAGQ QRWWEQEIKI NGNIQKGELI
710 720 730 740 750
TYNLTELIKP EAYEVRLTPL TKFGEGDSTI RVIKYSAPVN PHLREFHCGF
760 770 780 790 800
EDGNICLFTQ DDTDNFDWTK QSTATRNTKY TPNTGPNADR SGSKEGFYMY
810 820 830 840 850
IETSRPRLEG EKARLLSPVF SIAPKNPYGP TNTAYCFSFF YHMYGQHIGV
860 870 880 890 900
LNVYLRLKGQ TTIENPLWSS SGNKGQRWNE AHVNIYPITS FQLIFEGIRG
910 920 930 940 950
PGIEGDIAID DVSIAEGECA KQDLATKNSV DGAVGILVHI WLFPIIVLIS

ILSPRR
Length:956
Mass (Da):107,436
Last modified:April 13, 2004 - v2
Checksum:i6B70534BD35489B9
GO
Isoform 2 (identifier: Q7Z553-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-229: Missing.

Show »
Length:727
Mass (Da):81,364
Checksum:i24465F56F955F261
GO
Isoform 3 (identifier: Q7Z553-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSVWSAGLLRSARRRRRGRTDGRRFLLRRAVPGHLGLARARVERAWLAAGLLKVPLRTPWAGYVHVHVKM

Note: No experimental confirmation available.Curated

Show »
Length:1,025
Mass (Da):115,310
Checksum:iFC5403A869640428
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti19 – 246SGQGVY → EHLVIQ in AAQ88492. (PubMed:12508121)Curated
Sequence conflicti71 – 711Missing in AAQ88492. (PubMed:12508121)Curated
Sequence conflicti457 – 4571E → Q in AK309211. (PubMed:14702039)Curated
Sequence conflicti479 – 4791R → K in AK309211. (PubMed:14702039)Curated
Sequence conflicti504 – 5041N → S in AK309211. (PubMed:14702039)Curated
Sequence conflicti554 – 5541D → N in AAQ88492. (PubMed:12508121)Curated
Sequence conflicti930 – 9301V → I in AK309211. (PubMed:14702039)Curated
Isoform 3 (identifier: Q7Z553-3)
Sequence conflicti50 – 501G → S in AK309211. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti608 – 6081V → F.
Corresponds to variant rs12590500 [ dbSNP | Ensembl ].
VAR_059400

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 229229Missing in isoform 2. CuratedVSP_042468Add
BLAST
Alternative sequencei1 – 11M → MSVWSAGLLRSARRRRRGRT DGRRFLLRRAVPGHLGLARA RVERAWLAAGLLKVPLRTPW AGYVHVHVKM in isoform 3. 1 PublicationVSP_045240

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS41948.1. [Q7Z553-2]
CCDS45098.3. [Q7Z553-1]
RefSeqiNP_001106970.3. NM_001113498.2. [Q7Z553-1]
NP_878250.2. NM_182830.4. [Q7Z553-2]
UniGeneiHs.436380.

Genome annotation databases

EnsembliENST00000357362; ENSP00000349925; ENSG00000139915. [Q7Z553-2]
ENST00000399232; ENSP00000382178; ENSG00000139915. [Q7Z553-1]
GeneIDi161357.
KEGGihsa:161357.
UCSCiuc001wwi.4. human. [Q7Z553-1]
uc010ani.3. human. [Q7Z553-2]

Polymorphism databases

DMDMi46403175.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS41948.1. [Q7Z553-2 ]
CCDS45098.3. [Q7Z553-1 ]
RefSeqi NP_001106970.3. NM_001113498.2. [Q7Z553-1 ]
NP_878250.2. NM_182830.4. [Q7Z553-2 ]
UniGenei Hs.436380.

3D structure databases

ProteinModelPortali Q7Z553.
SMRi Q7Z553. Positions 11-618, 748-921.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127785. 1 interaction.
STRINGi 9606.ENSP00000382178.

Protein family/group databases

MEROPSi I43.001.

PTM databases

PhosphoSitei Q7Z553.

Polymorphism databases

DMDMi 46403175.

Proteomic databases

PaxDbi Q7Z553.
PRIDEi Q7Z553.

Protocols and materials databases

DNASUi 161357.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000357362 ; ENSP00000349925 ; ENSG00000139915 . [Q7Z553-2 ]
ENST00000399232 ; ENSP00000382178 ; ENSG00000139915 . [Q7Z553-1 ]
GeneIDi 161357.
KEGGi hsa:161357.
UCSCi uc001wwi.4. human. [Q7Z553-1 ]
uc010ani.3. human. [Q7Z553-2 ]

Organism-specific databases

CTDi 161357.
GeneCardsi GC14M047309.
GC14M047311.
H-InvDB HIX0026644.
HGNCi HGNC:19835. MDGA2.
HPAi HPA003084.
MIMi 611128. gene.
neXtProti NX_Q7Z553.
PharmGKBi PA162395090.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG126204.
GeneTreei ENSGT00720000108445.
HOGENOMi HOG000015243.
HOVERGENi HBG052403.
InParanoidi Q7Z553.
OMAi KQDLATK.
OrthoDBi EOG7NCV2N.
PhylomeDBi Q7Z553.
TreeFami TF330345.

Miscellaneous databases

ChiTaRSi MDGA2. human.
GenomeRNAii 161357.
NextBioi 35535227.
PROi Q7Z553.
SOURCEi Search...

Gene expression databases

Bgeei Q7Z553.
CleanExi HS_MDGA2.
ExpressionAtlasi Q7Z553. baseline and differential.
Genevestigatori Q7Z553.

Family and domain databases

Gene3Di 2.60.40.10. 7 hits.
InterProi IPR013320. ConA-like_dom.
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 ]
Pfami PF07679. I-set. 3 hits.
PF00629. MAM. 1 hit.
[Graphical view ]
SMARTi SM00409. IG. 1 hit.
SM00408. IGc2. 4 hits.
SM00137. MAM. 1 hit.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 1 hit.
SSF49899. SSF49899. 1 hit.
PROSITEi PS50853. FN3. 1 hit.
PS50835. IG_LIKE. 6 hits.
PS50060. MAM_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiMDGA2_HUMAN
AccessioniPrimary (citable) accession number: Q7Z553
Secondary accession number(s): F6W3S7, J3KPX6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 13, 2004
Last modified: October 29, 2014
This is version 120 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, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: 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

External Data

Dasty 3