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Q8IWA5 (CTL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 103. 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:
Choline transporter-like protein 2
Alternative name(s):
Solute carrier family 44 member 2
Gene names
Name:SLC44A2
Synonyms:CTL2
ORF Names:PSEC0210
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length706 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Isoform 1, but not isoform 3, exhibits some choline transporter activity. Ref.1 Ref.14

Subunit structure

Interacts with COCH. Ref.11

Subcellular location

Membrane; Multi-pass membrane protein By similarity.

Tissue specificity

Present in supporting cells of the inner ear (at protein level). Only isoform 3 is expressed in inner ear vestibular tissue. Ref.2 Ref.14

Sequence similarities

Belongs to the CTL (choline transporter-like) family.

Sequence caution

The sequence BAC11662.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Biological processTransport
   Cellular componentMembrane
   Coding sequence diversityAlternative promoter usage
Alternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcholine transport

Traceable author statement Ref.1. Source: UniProtKB

glycerophospholipid biosynthetic process

Traceable author statement. Source: Reactome

phosphatidylcholine biosynthetic process

Traceable author statement. Source: Reactome

phospholipid metabolic process

Traceable author statement. Source: Reactome

positive regulation of I-kappaB kinase/NF-kappaB signaling

Inferred from mutant phenotype PubMed 12761501. Source: UniProtKB

signal transduction

Inferred from mutant phenotype PubMed 12761501. Source: GOC

small molecule metabolic process

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentextracellular vesicular exosome

Inferred from direct assay PubMed 19056867PubMed 20458337. Source: UniProt

integral component of membrane

Traceable author statement Ref.1. Source: UniProtKB

lysosomal membrane

Inferred from direct assay PubMed 17897319. Source: UniProtKB

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functioncholine transmembrane transporter activity

Traceable author statement Ref.1. Source: UniProtKB

signal transducer activity

Inferred from mutant phenotype PubMed 12761501. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative promoter usage and alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IWA5-1)

Also known as: CTL2a; CTL2P2A;

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: Q8IWA5-2)

Also known as: CTL2b; CTL2P2B;

The sequence of this isoform differs from the canonical sequence as follows:
     672-706: LEDLERNDGSAERPYFMSSTLKKLLNKTNKKAAES → CEDLERNDGSQERPYFMSPELRDILLKGSAEEGKRAEAEE
Isoform 3 (identifier: Q8IWA5-3)

Also known as: CTL2P1;

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MGDERPHYYGKH → MEDERKNGAY
Note: Produced by alternative promoter usage.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 706706Choline transporter-like protein 2
PRO_0000191717

Regions

Topological domain1 – 3333Cytoplasmic Potential
Transmembrane34 – 5421Helical; Potential
Topological domain55 – 232178Extracellular Potential
Transmembrane233 – 25321Helical; Potential
Topological domain254 – 2563Cytoplasmic Potential
Transmembrane257 – 27721Helical; Potential
Topological domain278 – 31538Extracellular Potential
Transmembrane316 – 33621Helical; Potential
Topological domain337 – 36428Cytoplasmic Potential
Transmembrane365 – 38521Helical; Potential
Topological domain386 – 45772Extracellular Potential
Transmembrane458 – 48023Helical; Potential
Topological domain481 – 50424Cytoplasmic Potential
Transmembrane505 – 52521Helical; Potential
Topological domain526 – 56338Extracellular Potential
Transmembrane564 – 58421Helical; Potential
Topological domain585 – 59915Cytoplasmic Potential
Transmembrane600 – 62021Helical; Potential
Topological domain621 – 63818Extracellular Potential
Transmembrane639 – 65921Helical; Potential
Topological domain660 – 70647Cytoplasmic Potential

Amino acid modifications

Glycosylation1871N-linked (GlcNAc...) Ref.12 Ref.13
Glycosylation2001N-linked (GlcNAc...) Ref.12 Ref.13
Glycosylation4171N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 1212MGDER…YYGKH → MEDERKNGAY in isoform 3.
VSP_041792
Alternative sequence672 – 70635LEDLE…KAAES → CEDLERNDGSQERPYFMSPE LRDILLKGSAEEGKRAEAEE in isoform 2.
VSP_015431
Natural variant1541Q → R. Ref.1 Ref.2 Ref.4 Ref.6 Ref.7 Ref.8
Corresponds to variant rs2288904 [ dbSNP | Ensembl ].
VAR_023404

Experimental info

Sequence conflict921I → T in BAG51335. Ref.4
Sequence conflict1531L → F in CBJ93592. Ref.3
Sequence conflict5311A → G in CAB75542. Ref.1
Sequence conflict6951L → P in AAH40556. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (CTL2a) (CTL2P2A) [UniParc].

Last modified November 2, 2010. Version 3.
Checksum: 9A044A531930326E

FASTA70680,124
        10         20         30         40         50         60 
MGDERPHYYG KHGTPQKYDP TFKGPIYNRG CTDIICCVFL LLAIVGYVAV GIIAWTHGDP 

        70         80         90        100        110        120 
RKVIYPTDSR GEFCGQKGTK NENKPYLFYF NIVKCASPLV LLEFQCPTPQ ICVEKCPDRY 

       130        140        150        160        170        180 
LTYLNARSSR DFEYYKQFCV PGFKNNKGVA EVLQDGDCPA VLIPSKPLAR RCFPAIHAYK 

       190        200        210        220        230        240 
GVLMVGNETT YEDGHGSRKN ITDLVEGAKK ANGVLEARQL AMRIFEDYTV SWYWIIIGLV 

       250        260        270        280        290        300 
IAMAMSLLFI ILLRFLAGIM VWVMIIMVIL VLGYGIFHCY MEYSRLRGEA GSDVSLVDLG 

       310        320        330        340        350        360 
FQTDFRVYLH LRQTWLAFMI ILSILEVIII LLLIFLRKRI LIAIALIKEA SRAVGYVMCS 

       370        380        390        400        410        420 
LLYPLVTFFL LCLCIAYWAS TAVFLSTSNE AVYKIFDDSP CPFTAKTCNP ETFPSSNESR 

       430        440        450        460        470        480 
QCPNARCQFA FYGGESGYHR ALLGLQIFNA FMFFWLANFV LALGQVTLAG AFASYYWALR 

       490        500        510        520        530        540 
KPDDLPAFPL FSAFGRALRY HTGSLAFGAL ILAIVQIIRV ILEYLDQRLK AAENKFAKCL 

       550        560        570        580        590        600 
MTCLKCCFWC LEKFIKFLNR NAYIMIAIYG TNFCTSARNA FFLLMRNIIR VAVLDKVTDF 

       610        620        630        640        650        660 
LFLLGKLLIV GSVGILAFFF FTHRIRIVQD TAPPLNYYWV PILTVIVGSY LIAHGFFSVY 

       670        680        690        700 
GMCVDTLFLC FLEDLERNDG SAERPYFMSS TLKKLLNKTN KKAAES 

« Hide

Isoform 2 (CTL2b) (CTL2P2B) [UniParc].

Checksum: FF8B042AFDEBA26C
Show »

FASTA71180,737
Isoform 3 (CTL2P1) [UniParc].

Checksum: 9B2CB6047E5FCDD6
Show »

FASTA70479,846

References

« Hide 'large scale' references
[1]"An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins."
O'Regan S., Traiffort E., Ruat M., Cha N., Compaore D., Meunier F.-M.
Proc. Natl. Acad. Sci. U.S.A. 97:1835-1840(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1), FUNCTION, VARIANT ARG-154.
[2]"Identification and characterization of choline transporter-like protein 2, an inner ear glycoprotein of 68 and 72 kDa that is the target of antibody-induced hearing loss."
Nair T.S., Kozma K.E., Hoefling N.L., Kommareddi P.K., Ueda Y., Gong T.-W., Lomax M.I., Lansford C.D., Telian S.A., Satar B., Arts H.A., El-Kashlan H.K., Berryhill W.E., Raphael Y., Carey T.E.
J. Neurosci. 24:1772-1779(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DISEASE, TISSUE SPECIFICITY, VARIANT ARG-154.
Tissue: Epithelium and Inner ear.
[3]"Detection of HNA-3b antibodies in patient sera."
Santoso S.S., Bayat B.B., Sachs U.
Submitted (APR-2011) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]"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] (ISOFORMS 1 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 565-706 (ISOFORM 2), VARIANT ARG-154.
Tissue: Brain cortex, Placenta and Teratocarcinoma.
[5]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-154.
[7]"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), VARIANT ARG-154.
Tissue: Eye and Testis.
[8]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 60-706 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 273-706 (ISOFORM 2), VARIANT ARG-154.
Tissue: Stomach.
[9]"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. expand/collapse author list , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 321-706 (ISOFORM 1).
Tissue: Embryo.
[10]Yu W., Gibbs R.A.
Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 663-706 (ISOFORM 3).
[11]"Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear."
Kommareddi P.K., Nair T.S., Raphael Y., Telian S.A., Kim A.H., Arts H.A., El-Kashlan H.K., Carey T.E.
J. Assoc. Res. Otolaryngol. 8:435-446(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH COCH.
[12]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-187 AND ASN-200.
Tissue: Liver.
[13]"Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D.
Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-187 AND ASN-200.
Tissue: Leukemic T-cell.
[14]"Isoforms, expression, glycosylation, and tissue distribution of CTL2/SLC44A2."
Kommareddi P.K., Nair T.S., Thang L.V., Galano M.M., Babu E., Ganapathy V., Kanazawa T., McHugh J.B., Carey T.E.
Protein J. 29:417-426(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, ALTERNATIVE PROMOTER USAGE, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ245621 Genomic DNA. Translation: CAB75542.1.
FN668568 mRNA. Translation: CBJ93592.1.
AK027519 mRNA. Translation: BAG51335.1.
AK294118 mRNA. Translation: BAG57451.1.
AK314582 mRNA. Translation: BAG37158.1.
AC011475 Genomic DNA. No translation available.
CH471106 Genomic DNA. Translation: EAW84126.1.
BC010617 mRNA. Translation: AAH10617.1.
BC040556 mRNA. Translation: AAH40556.1.
AL832517 mRNA. Translation: CAH56352.1.
AL832978 mRNA. Translation: CAH56342.1.
AK075512 mRNA. Translation: BAC11662.1. Different initiation.
AF070636 mRNA. No translation available.
RefSeqNP_001138528.1. NM_001145056.1.
NP_065161.3. NM_020428.3.
XP_005260054.1. XM_005259997.1.
XP_005260055.1. XM_005259998.1.
UniGeneHs.534560.

3D structure databases

ProteinModelPortalQ8IWA5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121410. 2 interactions.
MINTMINT-5006445.
STRING9606.ENSP00000336888.

Chemistry

DrugBankDB00122. Choline.

Protein family/group databases

TCDB2.A.92.1.4. the choline transporter-like (ctl) family.

PTM databases

PhosphoSiteQ8IWA5.

Polymorphism databases

DMDM311033462.

Proteomic databases

PaxDbQ8IWA5.
PeptideAtlasQ8IWA5.
PRIDEQ8IWA5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000335757; ENSP00000336888; ENSG00000129353. [Q8IWA5-1]
ENST00000407327; ENSP00000385135; ENSG00000129353. [Q8IWA5-3]
ENST00000586078; ENSP00000466664; ENSG00000129353. [Q8IWA5-2]
GeneID57153.
KEGGhsa:57153.
UCSCuc002mpe.4. human. [Q8IWA5-3]
uc002mpf.3. human. [Q8IWA5-1]
uc002mpg.1. human. [Q8IWA5-2]

Organism-specific databases

CTD57153.
GeneCardsGC19P010713.
H-InvDBHIX0202740.
HGNCHGNC:17292. SLC44A2.
HPAHPA003228.
MIM606106. gene.
neXtProtNX_Q8IWA5.
PharmGKBPA142670899.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG310633.
HOVERGENHBG062155.
InParanoidQ8IWA5.
KOK15377.
OMAQTWMAFM.
OrthoDBEOG7FR7G4.
PhylomeDBQ8IWA5.
TreeFamTF313325.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_15518. Transmembrane transport of small molecules.
REACT_20679. Amine compound SLC transporters.

Gene expression databases

ArrayExpressQ8IWA5.
BgeeQ8IWA5.
CleanExHS_SLC44A2.
GenevestigatorQ8IWA5.

Family and domain databases

InterProIPR007603. Choline_transptr-like.
[Graphical view]
PANTHERPTHR12385. PTHR12385. 1 hit.
PfamPF04515. Choline_transpo. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSLC44A2. human.
GeneWikiSLC44A2.
GenomeRNAi57153.
NextBio63129.
PROQ8IWA5.
SOURCESearch...

Entry information

Entry nameCTL2_HUMAN
AccessionPrimary (citable) accession number: Q8IWA5
Secondary accession number(s): B2RBB1 expand/collapse secondary AC list , B3KNH3, B4DFJ0, F2Q9D7, Q658V1, Q658Z2, Q6PJV7, Q8N2F0, Q9NY68
Entry history
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: November 2, 2010
Last modified: April 16, 2014
This is version 103 of the entry and version 3 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 19

Human chromosome 19: entries, gene names and cross-references to MIM