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Q8IZK6

- MCLN2_HUMAN

UniProt

Q8IZK6 - MCLN2_HUMAN

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Protein

Mucolipin-2

Gene

MCOLN2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

GO - Biological processi

  1. calcium ion transmembrane transport Source: Reactome
  2. ion transmembrane transport Source: Reactome
  3. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

ReactomeiREACT_169333. TRP channels.

Protein family/group databases

TCDBi1.A.5.3.3. the polycystin cation channel (pcc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Mucolipin-2
Gene namesi
Name:MCOLN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:13357. MCOLN2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei289 – 30921HelicalSequence AnalysisAdd
BLAST
Transmembranei342 – 36221HelicalSequence AnalysisAdd
BLAST
Transmembranei380 – 40021HelicalSequence AnalysisAdd
BLAST
Transmembranei420 – 44021HelicalSequence AnalysisAdd
BLAST
Transmembranei486 – 50621HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134913691.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 566566Mucolipin-2PRO_0000215365Add
BLAST

Proteomic databases

PaxDbiQ8IZK6.
PRIDEiQ8IZK6.

Expressioni

Gene expression databases

BgeeiQ8IZK6.
CleanExiHS_MCOLN2.
ExpressionAtlasiQ8IZK6. baseline and differential.
GenevestigatoriQ8IZK6.

Organism-specific databases

HPAiHPA019114.

Interactioni

Protein-protein interaction databases

BioGridi129087. 1 interaction.
STRINGi9606.ENSP00000359640.

Structurei

3D structure databases

ProteinModelPortaliQ8IZK6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG149591.
GeneTreeiENSGT00390000017126.
HOGENOMiHOG000232158.
HOVERGENiHBG052430.
InParanoidiQ8IZK6.
KOiK04993.
OMAiRRQIPWK.
OrthoDBiEOG7V1FQ9.
PhylomeDBiQ8IZK6.
TreeFamiTF317783.

Family and domain databases

InterProiIPR013122. PKD1_2_channel.
[Graphical view]
PfamiPF08016. PKD_channel. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8IZK6-1) [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
MARQPYRFPQ ARIPERGSGV FRLTVRNAMA HRDSEMKEEC LREDLKFYFM
60 70 80 90 100
SPCEKYRARR QIPWKLGLQI LKIVMVTTQL VRFGLSNQLV VAFKEDNTVA
110 120 130 140 150
FKHLFLKGYS GTDEDDYSCS VYTQEDAYES IFFAINQYHQ LKDITLGTLG
160 170 180 190 200
YGENEDNRIG LKVCKQHYKK GTMFPSNETL NIDNDVELDC VQLDLQDLSK
210 220 230 240 250
KPPDWKNSSF FRLEFYRLLQ VEISFHLKGI DLQTIHSREL PDCYVFQNTI
260 270 280 290 300
IFDNKAHSGK IKIYFDSDAK IEECKDLNIF GSTQKNAQYV LVFDAFVIVI
310 320 330 340 350
CLASLILCTR SIVLALRLRK RFLNFFLEKY KRPVCDTDQW EFINGWYVLV
360 370 380 390 400
IISDLMTIIG SILKMEIKAK NLTNYDLCSI FLGTSTLLVW VGVIRYLGYF
410 420 430 440 450
QAYNVLILTM QASLPKVLRF CACAGMIYLG YTFCGWIVLG PYHDKFENLN
460 470 480 490 500
TVAECLFSLV NGDDMFATFA QIQQKSILVW LFSRLYLYSF ISLFIYMILS
510 520 530 540 550
LFIALITDSY DTIKKFQQNG FPETDLQEFL KECSSKEEYQ KESSAFLSCI
560
CCRRRKRSDD HLIPIS

Note: No experimental confirmation available.

Length:566
Mass (Da):65,942
Last modified:July 22, 2008 - v2
Checksum:i6F017BA416624E63
GO
Isoform 2 (identifier: Q8IZK6-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:538
Mass (Da):62,685
Checksum:i1BCCB92F8D6C83C4
GO

Sequence cautioni

The sequence BAC04267.1 differs from that shown. Reason: Erroneous termination at position 64. Translated as Trp.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti365 – 3651M → V.
Corresponds to variant rs17117841 [ dbSNP | Ensembl ].
VAR_052394
Natural varianti370 – 3701K → Q.
Corresponds to variant rs6704203 [ dbSNP | Ensembl ].
VAR_052395

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2828Missing in isoform 2. 1 PublicationVSP_034642Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS30762.1. [Q8IZK6-1]
RefSeqiNP_694991.2. NM_153259.2. [Q8IZK6-1]
XP_005270776.1. XM_005270719.1. [Q8IZK6-2]
XP_006710615.1. XM_006710552.1. [Q8IZK6-2]
UniGeneiHs.591446.

Genome annotation databases

EnsembliENST00000284027; ENSP00000284027; ENSG00000153898. [Q8IZK6-2]
ENST00000370608; ENSP00000359640; ENSG00000153898. [Q8IZK6-1]
GeneIDi255231.
KEGGihsa:255231.
UCSCiuc001dkm.3. human. [Q8IZK6-1]

Polymorphism databases

DMDMi212276802.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSi CCDS30762.1. [Q8IZK6-1 ]
RefSeqi NP_694991.2. NM_153259.2. [Q8IZK6-1 ]
XP_005270776.1. XM_005270719.1. [Q8IZK6-2 ]
XP_006710615.1. XM_006710552.1. [Q8IZK6-2 ]
UniGenei Hs.591446.

3D structure databases

ProteinModelPortali Q8IZK6.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129087. 1 interaction.
STRINGi 9606.ENSP00000359640.

Protein family/group databases

TCDBi 1.A.5.3.3. the polycystin cation channel (pcc) family.

Polymorphism databases

DMDMi 212276802.

Proteomic databases

PaxDbi Q8IZK6.
PRIDEi Q8IZK6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000284027 ; ENSP00000284027 ; ENSG00000153898 . [Q8IZK6-2 ]
ENST00000370608 ; ENSP00000359640 ; ENSG00000153898 . [Q8IZK6-1 ]
GeneIDi 255231.
KEGGi hsa:255231.
UCSCi uc001dkm.3. human. [Q8IZK6-1 ]

Organism-specific databases

CTDi 255231.
GeneCardsi GC01M085391.
HGNCi HGNC:13357. MCOLN2.
HPAi HPA019114.
MIMi 607399. gene.
neXtProti NX_Q8IZK6.
PharmGKBi PA134913691.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG149591.
GeneTreei ENSGT00390000017126.
HOGENOMi HOG000232158.
HOVERGENi HBG052430.
InParanoidi Q8IZK6.
KOi K04993.
OMAi RRQIPWK.
OrthoDBi EOG7V1FQ9.
PhylomeDBi Q8IZK6.
TreeFami TF317783.

Enzyme and pathway databases

Reactomei REACT_169333. TRP channels.

Miscellaneous databases

GeneWikii MCOLN2.
GenomeRNAii 255231.
NextBioi 92523.
PROi Q8IZK6.
SOURCEi Search...

Gene expression databases

Bgeei Q8IZK6.
CleanExi HS_MCOLN2.
ExpressionAtlasi Q8IZK6. baseline and differential.
Genevestigatori Q8IZK6.

Family and domain databases

InterProi IPR013122. PKD1_2_channel.
[Graphical view ]
Pfami PF08016. PKD_channel. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiMCLN2_HUMAN
AccessioniPrimary (citable) accession number: Q8IZK6
Secondary accession number(s): A6NI99
, Q2M3I6, Q5TAG5, Q8N9R3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 22, 2008
Last modified: October 29, 2014
This is version 95 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 1
    Human chromosome 1: 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