UniProtKB - Q7Z553 (MDGA2_HUMAN)
Protein
MAM domain-containing glycosylphosphatidylinositol anchor protein 2
Gene
MDGA2
Organism
Homo sapiens (Human)
Status
Functioni
May be involved in cell-cell interactions.By similarity
GO - Biological processi
- pattern specification process Source: Ensembl
- spinal cord motor neuron differentiation Source: HGNC-UCL
Enzyme and pathway databases
PathwayCommonsi | Q7Z553 |
Reactomei | R-HSA-163125, Post-translational modification: synthesis of GPI-anchored proteins |
Names & Taxonomyi
Protein namesi | Recommended name: MAM domain-containing glycosylphosphatidylinositol anchor protein 2Alternative name(s): MAM domain-containing protein 1 |
Gene namesi | Name:MDGA2 Synonyms:MAMDC1 ORF Names:UNQ8188/PRO23197 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000139915.18 |
HGNCi | HGNC:19835, MDGA2 |
MIMi | 611128, gene |
neXtProti | NX_Q7Z553 |
Subcellular locationi
Plasma membrane
- Cell membrane Curated; GPI-anchor Curated
Extracellular region or secreted
- extracellular region Source: Reactome
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
- anchored component of membrane Source: UniProtKB-KW
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 161357 |
OpenTargetsi | ENSG00000139915 |
PharmGKBi | PA162395090 |
Miscellaneous databases
Pharosi | Q7Z553, Tbio |
Polymorphism and mutation databases
BioMutai | MDGA2 |
DMDMi | 46403175 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 25 | Sequence analysisAdd BLAST | 25 | |
ChainiPRO_0000014859 | 26 – 931 | MAM domain-containing glycosylphosphatidylinositol anchor protein 2Add BLAST | 906 | |
PropeptideiPRO_0000292043 | 932 – 956 | Removed in mature formSequence analysisAdd BLAST | 25 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 62 ↔ 110 | PROSITE-ProRule annotation | ||
Glycosylationi | 92 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 159 ↔ 216 | PROSITE-ProRule annotation | ||
Glycosylationi | 213 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 237 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 264 ↔ 310 | PROSITE-ProRule annotation | ||
Disulfide bondi | 359 ↔ 417 | PROSITE-ProRule annotation | ||
Glycosylationi | 434 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 443 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 465 ↔ 515 | PROSITE-ProRule annotation | ||
Glycosylationi | 504 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 561 ↔ 611 | PROSITE-ProRule annotation | ||
Glycosylationi | 610 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 703 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Lipidationi | 931 | GPI-anchor amidated aspartateSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, GPI-anchor, LipoproteinProteomic databases
jPOSTi | Q7Z553 |
MassIVEi | Q7Z553 |
PaxDbi | Q7Z553 |
PeptideAtlasi | Q7Z553 |
PRIDEi | Q7Z553 |
ProteomicsDBi | 69257 [Q7Z553-1] 69258 [Q7Z553-2] |
PTM databases
GlyGeni | Q7Z553, 8 sites |
iPTMneti | Q7Z553 |
PhosphoSitePlusi | Q7Z553 |
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
Bgeei | ENSG00000139915, Expressed in corpus callosum and 86 other tissues |
ExpressionAtlasi | Q7Z553, baseline and differential |
Genevisiblei | Q7Z553, HS |
Organism-specific databases
HPAi | ENSG00000139915, Group enriched (brain, testis) |
Interactioni
Subunit structurei
Interacts (through the Ig-like domains) with NLGN2.
By similarityProtein-protein interaction databases
BioGRIDi | 127785, 1 interactor |
STRINGi | 9606.ENSP00000382178 |
Miscellaneous databases
RNActi | Q7Z553, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 27 – 127 | Ig-like 1Add BLAST | 101 | |
Domaini | 134 – 232 | Ig-like 2Add BLAST | 99 | |
Domaini | 242 – 328 | Ig-like 3Add BLAST | 87 | |
Domaini | 340 – 436 | Ig-like 4Add BLAST | 97 | |
Domaini | 442 – 533 | Ig-like 5Add BLAST | 92 | |
Domaini | 540 – 627 | Ig-like 6Add BLAST | 88 | |
Domaini | 638 – 739 | Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST | 102 | |
Domaini | 746 – 921 | MAMPROSITE-ProRule annotationAdd BLAST | 176 |
Keywords - Domaini
Immunoglobulin domain, Repeat, SignalPhylogenomic databases
eggNOGi | ENOG502QSMD, Eukaryota |
GeneTreei | ENSGT00940000155369 |
HOGENOMi | CLU_014908_0_0_1 |
InParanoidi | Q7Z553 |
OMAi | PFFNIAP |
OrthoDBi | 118847at2759 |
PhylomeDBi | Q7Z553 |
TreeFami | TF330345 |
Family and domain databases
CDDi | cd06263, MAM, 1 hit |
Gene3Di | 2.60.40.10, 7 hits |
InterProi | View protein in InterPro IPR013320, ConA-like_dom_sf IPR003961, FN3_dom IPR036116, FN3_sf IPR007110, Ig-like_dom IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR013098, Ig_I-set IPR003599, Ig_sub IPR003598, Ig_sub2 IPR000998, MAM_dom |
Pfami | View protein in Pfam PF07679, I-set, 1 hit PF00629, MAM, 1 hit |
SMARTi | View protein in SMART SM00409, IG, 6 hits SM00408, IGc2, 6 hits SM00137, MAM, 1 hit |
SUPFAMi | SSF48726, SSF48726, 6 hits SSF49265, SSF49265, 1 hit SSF49899, SSF49899, 1 hit |
PROSITEi | View protein in PROSITE PS50853, FN3, 1 hit PS50835, IG_LIKE, 6 hits PS50060, MAM_2, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q7Z553-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YJ52 | H0YJ52_HUMAN | MAM domain-containing glycosylphosp... | MDGA2 | 253 | Annotation score: | ||
G3V5U0 | G3V5U0_HUMAN | MAM domain-containing glycosylphosp... | MDGA2 | 142 | Annotation score: | ||
E9PMG9 | E9PMG9_HUMAN | MAM domain-containing glycosylphosp... | MDGA2 | 250 | Annotation score: | ||
G3V5Z1 | G3V5Z1_HUMAN | MAM domain-containing glycosylphosp... | MDGA2 | 233 | Annotation score: | ||
A0A7D9N0L9 | A0A7D9N0L9_HUMAN | MAM domain-containing glycosylphosp... | MDGA2 | 826 | Annotation score: |
Sequence cautioni
The sequence AAP97010 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Sequence conflicti | 19 – 24 | SGQGVY → EHLVIQ in AAQ88492 (PubMed:12508121).Curated | 6 | ||
Sequence conflicti | 71 | Missing in AAQ88492 (PubMed:12508121).Curated | 1 | ||
Sequence conflicti | 457 | E → Q in AK309211 (PubMed:14702039).Curated | 1 | ||
Sequence conflicti | 479 | R → K in AK309211 (PubMed:14702039).Curated | 1 | ||
Sequence conflicti | 504 | N → S in AK309211 (PubMed:14702039).Curated | 1 | ||
Sequence conflicti | 554 | D → N in AAQ88492 (PubMed:12508121).Curated | 1 | ||
Sequence conflicti | 930 | V → I in AK309211 (PubMed:14702039).Curated | 1 | ||
Isoform 3 (identifier: Q7Z553-3) | |||||
Sequence conflicti | 50 | G → S in AK309211 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059400 | 608 | V → F. Corresponds to variant dbSNP:rs12590500Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_042468 | 1 – 229 | Missing in isoform 2. CuratedAdd BLAST | 229 | |
Alternative sequenceiVSP_045240 | 1 | M → MSVWSAGLLRSARRRRRGRT DGRRFLLRRAVPGHLGLARA RVERAWLAAGLLKVPLRTPW AGYVHVHVKM in isoform 3. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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] XP_016876549.1, XM_017021060.1 |
Genome annotation databases
Ensembli | ENST00000357362; ENSP00000349925; ENSG00000139915 [Q7Z553-2] ENST00000399232; ENSP00000382178; ENSG00000139915 [Q7Z553-3] |
GeneIDi | 161357 |
KEGGi | hsa:161357 |
UCSCi | uc001wwj.6, human [Q7Z553-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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] XP_016876549.1, XM_017021060.1 |
3D structure databases
SMRi | Q7Z553 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 127785, 1 interactor |
STRINGi | 9606.ENSP00000382178 |
PTM databases
GlyGeni | Q7Z553, 8 sites |
iPTMneti | Q7Z553 |
PhosphoSitePlusi | Q7Z553 |
Polymorphism and mutation databases
BioMutai | MDGA2 |
DMDMi | 46403175 |
Proteomic databases
jPOSTi | Q7Z553 |
MassIVEi | Q7Z553 |
PaxDbi | Q7Z553 |
PeptideAtlasi | Q7Z553 |
PRIDEi | Q7Z553 |
ProteomicsDBi | 69257 [Q7Z553-1] 69258 [Q7Z553-2] |
Protocols and materials databases
Antibodypediai | 162, 86 antibodies |
DNASUi | 161357 |
Genome annotation databases
Ensembli | ENST00000357362; ENSP00000349925; ENSG00000139915 [Q7Z553-2] ENST00000399232; ENSP00000382178; ENSG00000139915 [Q7Z553-3] |
GeneIDi | 161357 |
KEGGi | hsa:161357 |
UCSCi | uc001wwj.6, human [Q7Z553-1] |
Organism-specific databases
CTDi | 161357 |
DisGeNETi | 161357 |
EuPathDBi | HostDB:ENSG00000139915.18 |
GeneCardsi | MDGA2 |
HGNCi | HGNC:19835, MDGA2 |
HPAi | ENSG00000139915, Group enriched (brain, testis) |
MIMi | 611128, gene |
neXtProti | NX_Q7Z553 |
OpenTargetsi | ENSG00000139915 |
PharmGKBi | PA162395090 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QSMD, Eukaryota |
GeneTreei | ENSGT00940000155369 |
HOGENOMi | CLU_014908_0_0_1 |
InParanoidi | Q7Z553 |
OMAi | PFFNIAP |
OrthoDBi | 118847at2759 |
PhylomeDBi | Q7Z553 |
TreeFami | TF330345 |
Enzyme and pathway databases
PathwayCommonsi | Q7Z553 |
Reactomei | R-HSA-163125, Post-translational modification: synthesis of GPI-anchored proteins |
Miscellaneous databases
BioGRID-ORCSi | 161357, 9 hits in 838 CRISPR screens |
ChiTaRSi | MDGA2, human |
GenomeRNAii | 161357 |
Pharosi | Q7Z553, Tbio |
PROi | PR:Q7Z553 |
RNActi | Q7Z553, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000139915, Expressed in corpus callosum and 86 other tissues |
ExpressionAtlasi | Q7Z553, baseline and differential |
Genevisiblei | Q7Z553, HS |
Family and domain databases
CDDi | cd06263, MAM, 1 hit |
Gene3Di | 2.60.40.10, 7 hits |
InterProi | View protein in InterPro IPR013320, ConA-like_dom_sf IPR003961, FN3_dom IPR036116, FN3_sf IPR007110, Ig-like_dom IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR013098, Ig_I-set IPR003599, Ig_sub IPR003598, Ig_sub2 IPR000998, MAM_dom |
Pfami | View protein in Pfam PF07679, I-set, 1 hit PF00629, MAM, 1 hit |
SMARTi | View protein in SMART SM00409, IG, 6 hits SM00408, IGc2, 6 hits SM00137, MAM, 1 hit |
SUPFAMi | SSF48726, SSF48726, 6 hits SSF49265, SSF49265, 1 hit SSF49899, SSF49899, 1 hit |
PROSITEi | View protein in PROSITE PS50853, FN3, 1 hit PS50835, IG_LIKE, 6 hits PS50060, MAM_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MDGA2_HUMAN | |
Accessioni | Q7Z553Primary (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: | December 2, 2020 | |
This is version 162 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations