Q7Z553 (MDGA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	956 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)

Function	May involved in cell-cell interactions By similarity.
Subcellular location	Cell membrane; Lipid-anchor › GPI-anchor Potential.
Sequence similarities	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.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Immunoglobulin domain Repeat Signal
PTM	Disulfide bond GPI-anchor Glycoprotein Lipoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	spinal cord motor neuron differentiation Inferred from sequence or structural similarity PubMed 15019943. Source: HGNC
Cellular_component	anchored to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 25	25	Potential
	Chain	26 – 931	906	MAM domain-containing glycosylphosphatidylinositol anchor protein 2		PRO_0000014859
	Propeptide	932 – 956	25	Removed in mature form Potential		PRO_0000292043
Regions
	Domain	27 – 127	101	Ig-like 1
	Domain	134 – 232	99	Ig-like 2
	Domain	242 – 328	87	Ig-like 3
	Domain	340 – 436	97	Ig-like 4
	Domain	442 – 533	92	Ig-like 5
	Domain	540 – 627	88	Ig-like 6
	Domain	746 – 921	176	MAM
Amino acid modifications
	Lipidation	931	1	GPI-anchor amidated aspartate Potential
	Glycosylation	92	1	N-linked (GlcNAc...) Potential
	Glycosylation	213	1	N-linked (GlcNAc...) Potential
	Glycosylation	237	1	N-linked (GlcNAc...) Potential
	Glycosylation	434	1	N-linked (GlcNAc...) Potential
	Glycosylation	443	1	N-linked (GlcNAc...) Potential
	Glycosylation	504	1	N-linked (GlcNAc...) Potential
	Glycosylation	610	1	N-linked (GlcNAc...) Potential
	Glycosylation	703	1	N-linked (GlcNAc...) Potential
	Disulfide bond	62 ↔ 110		By similarity
	Disulfide bond	159 ↔ 216		By similarity
	Disulfide bond	264 ↔ 310		By similarity
	Disulfide bond	359 ↔ 417		By similarity
	Disulfide bond	465 ↔ 515		By similarity
	Disulfide bond	561 ↔ 611		By similarity
Natural variations
	Alternative sequence	1 – 229	229	Missing in isoform 2.		VSP_042468
	Alternative sequence	1	1	M → MSVWSAGLLRSARRRRRGRT DGRRFLLRRAVPGHLGLARA RVERAWLAAGLLKVPLRTPW AGYVHVHVKM in isoform 3.		VSP_045240
	Natural variant	608	1	V → F. Corresponds to variant rs12590500 [ dbSNP | Ensembl ].		VAR_059400
Experimental info
	Sequence conflict	19 – 24	6	SGQGVY → EHLVIQ in AAQ88492. Ref.3
	Sequence conflict	71	1	Missing in AAQ88492. Ref.3
	Sequence conflict	457	1	E → Q in AK309211. Ref.2
	Sequence conflict	479	1	R → K in AK309211. Ref.2
	Sequence conflict	504	1	N → S in AK309211. Ref.2
	Sequence conflict	554	1	D → N in AAQ88492. Ref.3
	Sequence conflict	930	1	V → I in AK309211. Ref.2
Isoform 3:
	Sequence conflict	50	1	G → S in AK309211. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 13, 2004. Version 2. Checksum: 6B70534BD35489B9	FASTA	956	107,436
	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
	Isoform 2 [UniParc]. Checksum: 24465F56F955F261	FASTA	727	81,364
	10 20 30 40 50 60 MVSFRLSNKT ASPSIKLLVD DPIVVNPGEA ITLVCVTTGG EPAPSLTWVR SFGTLPEKTV 70 80 90 100 110 120 LNGGTLTIPA ITSDDAGTYS CIANNNVGNP AKKSTNIIVR ALKKGRFWIT PDPYHKDDNI 130 140 150 160 170 180 QIGREVKISC QVEAVPSEEL TFSWFKNGRP LRSSERMVIT QTDPDVSPGT TNLDIIDLKF 190 200 210 220 230 240 TDFGTYTCVA SLKGGGISDI SIDVNISSST VPPNLTVPQE KSPLVTREGD TIELQCQVTG 250 260 270 280 290 300 KPKPIILWSR ADKEVAMPDG SMQMESYDGT LRIVNVSREM SGMYRCQTSQ YNGFNVKPRE 310 320 330 340 350 360 ALVQLIVQYP PAVEPAFLEI RQGQDRSVTM SCRVLRAYPI RVLTYEWRLG NKLLRTGQFD 370 380 390 400 410 420 SQEYTEYAVK SLSNENYGVY NCSIINEAGA GRCSFLVTGK AYAPEFYYDT YNPVWQNRHR 430 440 450 460 470 480 VYSYSLQWTQ MNPDAVDRIV AYRLGIRQAG QQRWWEQEIK INGNIQKGEL ITYNLTELIK 490 500 510 520 530 540 PEAYEVRLTP LTKFGEGDST IRVIKYSAPV NPHLREFHCG FEDGNICLFT QDDTDNFDWT 550 560 570 580 590 600 KQSTATRNTK YTPNTGPNAD RSGSKEGFYM YIETSRPRLE GEKARLLSPV FSIAPKNPYG 610 620 630 640 650 660 PTNTAYCFSF FYHMYGQHIG VLNVYLRLKG QTTIENPLWS SSGNKGQRWN EAHVNIYPIT 670 680 690 700 710 720 SFQLIFEGIR GPGIEGDIAI DDVSIAEGEC AKQDLATKNS VDGAVGILVH IWLFPIIVLI SILSPRR
	Isoform 3 [UniParc]. Checksum: FC5403A869640428	FASTA	1,025	115,310
	10 20 30 40 50 60 MSVWSAGLLR SARRRRRGRT DGRRFLLRRA VPGHLGLARA RVERAWLAAG LLKVPLRTPW 70 80 90 100 110 120 AGYVHVHVKM DLLYGLVWLL TVLLEGISGQ GVYAPPTVRI VHSGLACNIE EERYSERVYT 130 140 150 160 170 180 IREGETLELT CLVTGHPRPQ IRWTKTAGSA SDRFQDSSVF NETLRITNIQ RHQGGRYYCK 190 200 210 220 230 240 AENGLGSPAI KSIRVDVYYL DDPVVTVHQS IGEAKEQFYY ERTVFLRCVA NSNPPVRYSW 250 260 270 280 290 300 RRGQEVLLQG SDKGVEIYEP FFTQGETKIL KLKNLRPQDY ANYSCIASVR NVCNIPDKMV 310 320 330 340 350 360 SFRLSNKTAS PSIKLLVDDP IVVNPGEAIT LVCVTTGGEP APSLTWVRSF GTLPEKTVLN 370 380 390 400 410 420 GGTLTIPAIT SDDAGTYSCI ANNNVGNPAK KSTNIIVRAL KKGRFWITPD PYHKDDNIQI 430 440 450 460 470 480 GREVKISCQV EAVPSEELTF SWFKNGRPLR SSERMVITQT DPDVSPGTTN LDIIDLKFTD 490 500 510 520 530 540 FGTYTCVASL KGGGISDISI DVNISSSTVP PNLTVPQEKS PLVTREGDTI ELQCQVTGKP 550 560 570 580 590 600 KPIILWSRAD KEVAMPDGSM QMESYDGTLR IVNVSREMSG MYRCQTSQYN GFNVKPREAL 610 620 630 640 650 660 VQLIVQYPPA VEPAFLEIRQ GQDRSVTMSC RVLRAYPIRV LTYEWRLGNK LLRTGQFDSQ 670 680 690 700 710 720 EYTEYAVKSL SNENYGVYNC SIINEAGAGR CSFLVTGKAY APEFYYDTYN PVWQNRHRVY 730 740 750 760 770 780 SYSLQWTQMN PDAVDRIVAY RLGIRQAGQQ RWWEQEIKIN GNIQKGELIT YNLTELIKPE 790 800 810 820 830 840 AYEVRLTPLT KFGEGDSTIR VIKYSAPVNP HLREFHCGFE DGNICLFTQD DTDNFDWTKQ 850 860 870 880 890 900 STATRNTKYT PNTGPNADRS GSKEGFYMYI ETSRPRLEGE KARLLSPVFS IAPKNPYGPT 910 920 930 940 950 960 NTAYCFSFFY HMYGQHIGVL NVYLRLKGQT TIENPLWSSS GNKGQRWNEA HVNIYPITSF 970 980 990 1000 1010 1020 QLIFEGIRGP GIEGDIAIDD VSIAEGECAK QDLATKNSVD GAVGILVHIW LFPIIVLISI LSPRR

References

	« Hide 'large scale' referencesShow '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. , 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]	"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. , 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).
+	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.
IPI	IPI00337351.
RefSeq	NP_001106970.2. NM_001113498.2. NP_878250.2. NM_182830.3.
UniGene	Hs.436380.
3D structure databases
ProteinModelPortal	Q7Z553.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000382178.
Protein family/group databases
MEROPS	I43.001.
PTM databases
PhosphoSite	Q7Z553.
Polymorphism databases
DMDM	46403175.
Proteomic databases
PaxDb	Q7Z553.
PRIDE	Q7Z553.
Protocols and materials databases
DNASU	161357.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000357362; ENSP00000349925; ENSG00000139915. ENST00000399232; ENSP00000382178; ENSG00000139915. ENST00000426342; ENSP00000405456; ENSG00000139915. ENST00000439988; ENSP00000400011; ENSG00000139915.
GeneID	161357.
KEGG	hsa:161357.
UCSC	uc001wwi.4. human.
Organism-specific databases
CTD	161357.
GeneCards	GC14M047309.
H-InvDB	HIX0026644.
HGNC	HGNC:19835. MDGA2.
HPA	HPA003084.
MIM	611128. gene.
neXtProt	NX_Q7Z553.
PharmGKB	PA162395090.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG126204.
HOGENOM	HOG000015243.
HOVERGEN	HBG052403.
InParanoid	Q7Z553.
OMA	KQDLATK.
OrthoDB	EOG45MN4K.
Gene expression databases
ArrayExpress	Q7Z553.
Bgee	Q7Z553.
CleanEx	HS_MDGA2.
Genevestigator	Q7Z553.
GermOnline	ENSG00000139915. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.10. 7 hits.
InterPro	IPR008985. 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]
Pfam	PF07679. I-set. 3 hits. PF00629. MAM. 1 hit. [Graphical view]
SMART	SM00409. IG. 1 hit. SM00408. IGc2. 4 hits. SM00137. MAM. 1 hit. [Graphical view]
SUPFAM	SSF49899. ConA_like_lec_gl. 1 hit. SSF49265. FN_III-like. 1 hit.
PROSITE	PS50835. IG_LIKE. 6 hits. PS00740. MAM_1. False negative. PS50060. MAM_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	MDGA2. human.
GenomeRNAi	161357.
NextBio	35535227.
SOURCE	Search...

Entry information

Entry name

MDGA2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 106 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.