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Q8IZK6 (MCLN2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 92. 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:
Mucolipin-2
Gene names
Name:MCOLN2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length566 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processIon transport
Transport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Molecular functionIon channel
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcalcium ion transmembrane transport

Traceable author statement. Source: Reactome

ion transmembrane transport

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Traceable author statement. Source: Reactome

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 566566Mucolipin-2
PRO_0000215365

Regions

Transmembrane289 – 30921Helical; Potential
Transmembrane342 – 36221Helical; Potential
Transmembrane380 – 40021Helical; Potential
Transmembrane420 – 44021Helical; Potential
Transmembrane486 – 50621Helical; Potential

Natural variations

Alternative sequence1 – 2828Missing in isoform 2.
VSP_034642
Natural variant3651M → V.
Corresponds to variant rs17117841 [ dbSNP | Ensembl ].
VAR_052394
Natural variant3701K → Q.
Corresponds to variant rs6704203 [ dbSNP | Ensembl ].
VAR_052395

Sequences

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

Last modified July 22, 2008. Version 2.
Checksum: 6F017BA416624E63

FASTA56665,942
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 1BCCB92F8D6C83C4
Show »

FASTA53862,685

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. 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] 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.
CCDSCCDS30762.1. [Q8IZK6-1]
RefSeqNP_694991.2. NM_153259.2. [Q8IZK6-1]
XP_005270776.1. XM_005270719.1. [Q8IZK6-2]
XP_006710615.1. XM_006710552.1. [Q8IZK6-2]
UniGeneHs.591446.

3D structure databases

ProteinModelPortalQ8IZK6.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000359640.

Protein family/group databases

TCDB1.A.5.3.3. the polycystin cation channel (pcc) family.

Polymorphism databases

DMDM212276802.

Proteomic databases

PaxDbQ8IZK6.
PRIDEQ8IZK6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000284027; ENSP00000284027; ENSG00000153898. [Q8IZK6-2]
ENST00000370608; ENSP00000359640; ENSG00000153898. [Q8IZK6-1]
GeneID255231.
KEGGhsa:255231.
UCSCuc001dkm.3. human. [Q8IZK6-1]

Organism-specific databases

CTD255231.
GeneCardsGC01M085391.
HGNCHGNC:13357. MCOLN2.
HPAHPA019114.
MIM607399. gene.
neXtProtNX_Q8IZK6.
PharmGKBPA134913691.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG149591.
HOGENOMHOG000232158.
HOVERGENHBG052430.
InParanoidQ8IZK6.
KOK04993.
OMARRQIPWK.
OrthoDBEOG7V1FQ9.
PhylomeDBQ8IZK6.
TreeFamTF317783.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ8IZK6.
BgeeQ8IZK6.
CleanExHS_MCOLN2.
GenevestigatorQ8IZK6.

Family and domain databases

InterProIPR013122. PKD1_2_channel.
[Graphical view]
PfamPF08016. PKD_channel. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMCOLN2.
GenomeRNAi255231.
NextBio92523.
PROQ8IZK6.
SOURCESearch...

Entry information

Entry nameMCLN2_HUMAN
AccessionPrimary (citable) accession number: Q8IZK6
Secondary accession number(s): A6NI99 expand/collapse secondary AC list , Q2M3I6, Q5TAG5, Q8N9R3
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 22, 2008
Last modified: July 9, 2014
This is version 92 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 1

Human chromosome 1: entries, gene names and cross-references to MIM