Q8IZK6 (MCLN2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mucolipin-2

Gene names

Name:

MCOLN2

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	566 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Membrane; Multi-pass membrane protein Potential.
Sequence similarities	Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN2 sub-subfamily. [View classification]
Sequence caution	The sequence BAC04267.1 differs from that shown. Reason: Erroneous termination at position 64. Translated as Trp.

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Ion channel
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ion transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8IZK6-1)

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.

Note: No experimental confirmation available.

Isoform 2 (identifier: Q8IZK6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 566	566	Mucolipin-2		PRO_0000215365
Regions
	Transmembrane	289 – 309	21	Helical; Potential
	Transmembrane	342 – 362	21	Helical; Potential
	Transmembrane	380 – 400	21	Helical; Potential
	Transmembrane	420 – 440	21	Helical; Potential
	Transmembrane	486 – 506	21	Helical; Potential
Natural variations
	Alternative sequence	1 – 28	28	Missing in isoform 2.		VSP_034642
	Natural variant	365	1	M → V. Corresponds to variant rs17117841 [ dbSNP | Ensembl ].		VAR_052394
	Natural variant	370	1	K → Q. Corresponds to variant rs6704203 [ dbSNP | Ensembl ].		VAR_052395

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 22, 2008. Version 2. Checksum: 6F017BA416624E63	FASTA	566	65,942
	10 20 30 40 50 60 MARQPYRFPQ ARIPERGSGV FRLTVRNAMA HRDSEMKEEC LREDLKFYFM SPCEKYRARR 70 80 90 100 110 120 QIPWKLGLQI LKIVMVTTQL VRFGLSNQLV VAFKEDNTVA FKHLFLKGYS GTDEDDYSCS 130 140 150 160 170 180 VYTQEDAYES IFFAINQYHQ LKDITLGTLG YGENEDNRIG LKVCKQHYKK GTMFPSNETL 190 200 210 220 230 240 NIDNDVELDC VQLDLQDLSK KPPDWKNSSF FRLEFYRLLQ VEISFHLKGI DLQTIHSREL 250 260 270 280 290 300 PDCYVFQNTI IFDNKAHSGK IKIYFDSDAK IEECKDLNIF GSTQKNAQYV LVFDAFVIVI 310 320 330 340 350 360 CLASLILCTR SIVLALRLRK RFLNFFLEKY KRPVCDTDQW EFINGWYVLV IISDLMTIIG 370 380 390 400 410 420 SILKMEIKAK NLTNYDLCSI FLGTSTLLVW VGVIRYLGYF QAYNVLILTM QASLPKVLRF 430 440 450 460 470 480 CACAGMIYLG YTFCGWIVLG PYHDKFENLN TVAECLFSLV NGDDMFATFA QIQQKSILVW 490 500 510 520 530 540 LFSRLYLYSF ISLFIYMILS LFIALITDSY DTIKKFQQNG FPETDLQEFL KECSSKEEYQ 550 560 KESSAFLSCI CCRRRKRSDD HLIPIS
	Isoform 2 [UniParc]. Checksum: 1BCCB92F8D6C83C4	FASTA	538	62,685
	10 20 30 40 50 60 MAHRDSEMKE ECLREDLKFY FMSPCEKYRA RRQIPWKLGL QILKIVMVTT QLVRFGLSNQ 70 80 90 100 110 120 LVVAFKEDNT VAFKHLFLKG YSGTDEDDYS CSVYTQEDAY ESIFFAINQY HQLKDITLGT 130 140 150 160 170 180 LGYGENEDNR IGLKVCKQHY KKGTMFPSNE TLNIDNDVEL DCVQLDLQDL SKKPPDWKNS 190 200 210 220 230 240 SFFRLEFYRL LQVEISFHLK GIDLQTIHSR ELPDCYVFQN TIIFDNKAHS GKIKIYFDSD 250 260 270 280 290 300 AKIEECKDLN IFGSTQKNAQ YVLVFDAFVI VICLASLILC TRSIVLALRL RKRFLNFFLE 310 320 330 340 350 360 KYKRPVCDTD QWEFINGWYV LVIISDLMTI IGSILKMEIK AKNLTNYDLC SIFLGTSTLL 370 380 390 400 410 420 VWVGVIRYLG YFQAYNVLIL TMQASLPKVL RFCACAGMIY LGYTFCGWIV LGPYHDKFEN 430 440 450 460 470 480 LNTVAECLFS LVNGDDMFAT FAQIQQKSIL VWLFSRLYLY SFISLFIYMI LSLFIALITD 490 500 510 520 530 SYDTIKKFQQ NGFPETDLQE FLKECSSKEE YQKESSAFLS CICCRRRKRS DDHLIPIS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice." Di Palma F., Belyantseva I.A., Kim H.J., Vogt T.F., Kachar B., Noben-Trauth K. Proc. Natl. Acad. Sci. U.S.A. 99:14994-14999(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[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. , 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] OF 1-249 (ISOFORM 1). Tissue: Uterus.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY083533 mRNA. Translation: AAM08926.1. AL139150 Genomic DNA. Translation: CAI22348.1. CH471097 Genomic DNA. Translation: EAW73221.1. BC104891 mRNA. Translation: AAI04892.1. BC104893 mRNA. Translation: AAI04894.1. AK094010 mRNA. Translation: BAC04267.1. Sequence problems.
IPI	IPI00374008. IPI00900259.
RefSeq	NP_694991.2. NM_153259.2.
UniGene	Hs.591446.
3D structure databases
ProteinModelPortal	Q8IZK6.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000359640.
Protein family/group databases
TCDB	1.A.5.3.3. polycystin cation channel (PCC) family.
Polymorphism databases
DMDM	212276802.
Proteomic databases
PaxDb	Q8IZK6.
PRIDE	Q8IZK6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000284027; ENSP00000284027; ENSG00000153898. ENST00000370608; ENSP00000359640; ENSG00000153898.
GeneID	255231.
KEGG	hsa:255231.
UCSC	uc001dkm.3. human.
Organism-specific databases
CTD	255231.
GeneCards	GC01M085391.
HGNC	HGNC:13357. MCOLN2.
HPA	HPA019114.
MIM	607399. gene.
neXtProt	NX_Q8IZK6.
PharmGKB	PA134913691.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG149591.
HOGENOM	HOG000232158.
HOVERGEN	HBG052430.
InParanoid	Q8IZK6.
KO	K04993.
OMA	RRQIPWK.
OrthoDB	EOG4229JK.
Gene expression databases
ArrayExpress	Q8IZK6.
Bgee	Q8IZK6.
CleanEx	HS_MCOLN2.
Genevestigator	Q8IZK6.
GermOnline	ENSG00000153898. Homo sapiens.
Family and domain databases
InterPro	IPR013122. PKD1_2_channel. [Graphical view]
Pfam	PF08016. PKD_channel. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	255231.
NextBio	92523.
SOURCE	Search...

Entry information

Entry name

MCLN2_HUMAN

Accession

Primary (citable) accession number: Q8IZK6
Secondary accession number(s): A6NI99 , Q2M3I6, Q5TAG5, Q8N9R3

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2004
Last sequence update:	July 22, 2008
Last modified:	May 1, 2013
This is version 80 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.