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Q4KMQ2 (ANO6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 89. 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:
Anoctamin-6
Alternative name(s):
Small-conductance calcium-activated nonselective cation channel
Short name=SCAN channel
Transmembrane protein 16F
Gene names
Name:ANO6
Synonyms:TMEM16F
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length910 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts. Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization. Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes. Ref.6 Ref.7 Ref.10 Ref.14 Ref.15

Enzyme regulation

Exhibits synergistic gating by Ca2+ and voltage. Inhibited by some non-specific cation channel blockers such as: ruthenium red, 2-aminoethyl diphenylborinate (2APB), gadolinium and cadmium ions By similarity.

Subcellular location

Cell membrane; Multi-pass membrane protein. Note: Shows an intracellular localization according to Ref.11. Ref.6 Ref.7 Ref.11 Ref.15

Tissue specificity

Expressed in embryonic stem cell, fetal liver, retina, chronic myologenous leukemia and intestinal cancer. Ref.4

Involvement in disease

Scott syndrome (SCTS) [MIM:262890]: A mild bleeding disorder due to impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Miscellaneous

The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology.

Sequence similarities

Belongs to the anoctamin family.

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   LigandChloride
   Molecular functionChloride channel
Ion channel
Voltage-gated channel
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processactivation of blood coagulation via clotting cascade

Inferred from mutant phenotype Ref.7. Source: UniProtKB

blood coagulation

Inferred from sequence or structural similarity. Source: UniProtKB

cation transport

Inferred from direct assay Ref.15. Source: UniProt

chloride transmembrane transport

Inferred from mutant phenotype Ref.15. Source: GOC

chloride transport

Inferred from mutant phenotype Ref.10Ref.15. Source: UniProt

ion transmembrane transport

Traceable author statement. Source: Reactome

phosphatidylserine exposure on blood platelet

Inferred from mutant phenotype Ref.7. Source: UniProtKB

phospholipid scrambling

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of endothelial cell apoptotic process

Inferred from mutant phenotype Ref.10. Source: UniProt

regulation of anion transport

Inferred from mutant phenotype Ref.10. Source: GOC

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentchloride channel complex

Inferred from direct assay Ref.10. Source: UniProt

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867PubMed 19199708PubMed 20458337PubMed 23376485. Source: UniProt

intracellular

Inferred from direct assay Ref.11. Source: UniProtKB

plasma membrane

Inferred from direct assay Ref.7. Source: UniProtKB

   Molecular_functioncalcium activated cation channel activity

Inferred from sequence or structural similarity. Source: UniProtKB

intracellular calcium activated chloride channel activity

Inferred from mutant phenotype Ref.15. Source: UniProt

voltage-gated chloride channel activity

Inferred from mutant phenotype Ref.10. Source: UniProt

voltage-gated ion channel activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q4KMQ2-1)

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: Q4KMQ2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     23-23: I → IGDVPASRRPFLTPHTHLPSSL
Note: No experimental confirmation available.
Isoform 3 (identifier: Q4KMQ2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MKKMSRNVLLQMEEEEDDDDGDI → MFCAA
Note: Gene prediction based on EST data.
Isoform 4 (identifier: Q4KMQ2-4)

The sequence of this isoform differs from the canonical sequence as follows:
     843-910: HVIYSVKFFI...VDNNLRPKSE → YLALLPRLGH...PCFSVSNFLS
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 910910Anoctamin-6
PRO_0000191757

Regions

Topological domain1 – 294294Cytoplasmic Potential
Transmembrane295 – 31521Helical; Potential
Topological domain316 – 37560Extracellular Potential
Transmembrane376 – 39621Helical; Potential
Topological domain397 – 45458Cytoplasmic Potential
Transmembrane455 – 47521Helical; Potential
Topological domain476 – 51338Extracellular Potential
Transmembrane514 – 53421Helical; Potential
Topological domain535 – 55117Cytoplasmic Potential
Transmembrane552 – 57221Helical; Potential
Topological domain573 – 66997Extracellular Potential
Transmembrane670 – 69021Helical; Potential
Topological domain691 – 72535Cytoplasmic Potential
Transmembrane726 – 74621Helical; Potential
Topological domain747 – 82478Extracellular Potential
Transmembrane825 – 84521Helical; Potential
Topological domain846 – 91065Cytoplasmic Potential

Amino acid modifications

Glycosylation3291N-linked (GlcNAc...) Potential
Glycosylation3611N-linked (GlcNAc...) Potential
Glycosylation4931N-linked (GlcNAc...) Ref.5
Glycosylation7771N-linked (GlcNAc...) Potential
Glycosylation7901N-linked (GlcNAc...) Potential
Glycosylation8021N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 2323MKKMS…DDGDI → MFCAA in isoform 3.
VSP_046819
Alternative sequence231I → IGDVPASRRPFLTPHTHLPS SL in isoform 2.
VSP_042893
Alternative sequence843 – 91068HVIYS…RPKSE → YLALLPRLGHSGMILAHCNL RLPVDCCMCYRFVDEIRLLE QLTSDFIDSLYYIFSISIIS IFFSVTFFFLLLSLGPTPCF SVSNFLS in isoform 4.
VSP_046820
Natural variant1281A → T.
Corresponds to variant rs2162321 [ dbSNP | Ensembl ].
VAR_028109

Experimental info

Sequence conflict8371F → L in AAH98410. Ref.2

Sequences

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

Last modified October 17, 2006. Version 2.
Checksum: 8F7F1CB78FAAEB78

FASTA910106,165
        10         20         30         40         50         60 
MKKMSRNVLL QMEEEEDDDD GDIVLENLGQ TIVPDLGSLE SQHDFRTPEF EEFNGKPDSL 

        70         80         90        100        110        120 
FFNDGQRRID FVLVYEDESR KETNKKGTNE KQRRKRQAYE SNLICHGLQL EATRSVLDDK 

       130        140        150        160        170        180 
LVFVKVHAPW EVLCTYAEIM HIKLPLKPND LKNRSSAFGT LNWFTKVLSV DESIIKPEQE 

       190        200        210        220        230        240 
FFTAPFEKNR MNDFYIVDRD AFFNPATRSR IVYFILSRVK YQVINNVSKF GINRLVNSGI 

       250        260        270        280        290        300 
YKAAFPLHDC KFRRQSEDPS CPNERYLLYR EWAHPRSIYK KQPLDLIRKY YGEKIGIYFA 

       310        320        330        340        350        360 
WLGYYTQMLL LAAVVGVACF LYGYLNQDNC TWSKEVCHPD IGGKIIMCPQ CDRLCPFWKL 

       370        380        390        400        410        420 
NITCESSKKL CIFDSFGTLV FAVFMGVWVT LFLEFWKRRQ AELEYEWDTV ELQQEEQARP 

       430        440        450        460        470        480 
EYEARCTHVV INEITQEEER IPFTAWGKCI RITLCASAVF FWILLIIASV IGIIVYRLSV 

       490        500        510        520        530        540 
FIVFSAKLPK NINGTDPIQK YLTPQTATSI TASIISFIII MILNTIYEKV AIMITNFELP 

       550        560        570        580        590        600 
RTQTDYENSL TMKMFLFQFV NYYSSCFYIA FFKGKFVGYP GDPVYWLGKY RNEECDPGGC 

       610        620        630        640        650        660 
LLELTTQLTI IMGGKAIWNN IQEVLLPWIM NLIGRFHRVS GSEKITPRWE QDYHLQPMGK 

       670        680        690        700        710        720 
LGLFYEYLEM IIQFGFVTLF VASFPLAPLL ALVNNILEIR VDAWKLTTQF RRLVPEKAQD 

       730        740        750        760        770        780 
IGAWQPIMQG IAILAVVTNA MIIAFTSDMI PRLVYYWSFS VPPYGDHTSY TMEGYINNTL 

       790        800        810        820        830        840 
SIFKVADFKN KSKGNPYSDL GNHTTCRYRD FRYPPGHPQE YKHNIYYWHV IAAKLAFIIV 

       850        860        870        880        890        900 
MEHVIYSVKF FISYAIPDVS KRTKSKIQRE KYLTQKLLHE NHLKDMTKNM GVIAERMIEA 

       910 
VDNNLRPKSE 

« Hide

Isoform 2 [UniParc].

Checksum: 6F0149C7FB67A371
Show »

FASTA931108,433
Isoform 3 [UniParc].

Checksum: 9FC6A98229E57118
Show »

FASTA892103,966
Isoform 4 [UniParc].

Checksum: 5B77123875916E01
Show »

FASTA929108,102

References

« Hide 'large scale' references
[1]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"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] (ISOFORMS 1 AND 2).
Tissue: Placenta and Testis.
[3]"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 772-910 (ISOFORM 1/2).
Tissue: Adipose tissue.
[4]"Identification and characterization of TMEM16E and TMEM16F genes in silico."
Katoh M., Katoh M.
Int. J. Oncol. 24:1345-1349(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[5]"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-493.
Tissue: Liver.
[6]"Expression and function of epithelial anoctamins."
Schreiber R., Uliyakina I., Kongsuphol P., Warth R., Mirza M., Martins J.R., Kunzelmann K.
J. Biol. Chem. 285:7838-7845(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[7]"Calcium-dependent phospholipid scrambling by TMEM16F."
Suzuki J., Umeda M., Sims P.J., Nagata S.
Nature 468:834-838(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN SCOTT SYNDROME.
[8]"Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?"
Duran C., Hartzell H.C.
Acta Pharmacol. Sin. 32:685-692(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[9]"Anoctamins."
Kunzelmann K., Tian Y., Martins J.R., Faria D., Kongsuphol P., Ousingsawat J., Thevenod F., Roussa E., Rock J., Schreiber R.
Pflugers Arch. 462:195-208(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[10]"Anoctamin 6 is an essential component of the outwardly rectifying chloride channel."
Martins J.R., Faria D., Kongsuphol P., Reisch B., Schreiber R., Kunzelmann K.
Proc. Natl. Acad. Sci. U.S.A. 108:18168-18172(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[11]"ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins."
Duran C., Qu Z., Osunkoya A.O., Cui Y., Hartzell H.C.
Am. J. Physiol. 302:C482-C493(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[12]"The anoctamin (TMEM16) gene family: calcium-activated chloride channels come of age."
Winpenny J.P., Gray M.A.
Exp. Physiol. 97:175-176(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[13]"The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels."
Scudieri P., Sondo E., Ferrera L., Galietta L.J.
Exp. Physiol. 97:177-183(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW, ABSENCE OF CALCIUM-ACTIVATED CHLORIDE CHANNEL ACTIVITY.
[14]"Expression and function of epithelial anoctamins."
Kunzelmann K., Schreiber R., Kmit A., Jantarajit W., Martins J.R., Faria D., Kongsuphol P., Ousingsawat J., Tian Y.
Exp. Physiol. 97:184-192(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW, FUNCTION.
[15]"Anoctamins are a family of Ca2+ activated Cl- channels."
Tian Y., Schreiber R., Kunzelmann K.
J. Cell Sci. 125:4991-4998(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC009248 Genomic DNA. No translation available.
AC009778 Genomic DNA. No translation available.
AC063924 Genomic DNA. No translation available.
BC098410 mRNA. Translation: AAH98410.1.
BC136445 mRNA. Translation: AAI36446.1.
AL833405 mRNA. Translation: CAD38638.1.
CCDSCCDS31782.1. [Q4KMQ2-1]
CCDS44865.1. [Q4KMQ2-4]
CCDS44866.1. [Q4KMQ2-3]
CCDS55819.1. [Q4KMQ2-2]
RefSeqNP_001020527.2. NM_001025356.2. [Q4KMQ2-1]
NP_001136150.1. NM_001142678.1. [Q4KMQ2-3]
NP_001136151.1. NM_001142679.1. [Q4KMQ2-4]
NP_001191732.1. NM_001204803.1. [Q4KMQ2-2]
UniGeneHs.505339.

3D structure databases

ProteinModelPortalQ4KMQ2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128218. 2 interactions.
IntActQ4KMQ2. 1 interaction.
MINTMINT-5001391.
STRING9606.ENSP00000391417.

Protein family/group databases

TCDB1.A.17.1.4. the calcium-dependent chloride channel (ca-clc) family.

PTM databases

PhosphoSiteQ4KMQ2.

Polymorphism databases

DMDM116242820.

Proteomic databases

MaxQBQ4KMQ2.
PaxDbQ4KMQ2.
PRIDEQ4KMQ2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320560; ENSP00000320087; ENSG00000177119. [Q4KMQ2-1]
ENST00000423947; ENSP00000409126; ENSG00000177119. [Q4KMQ2-2]
ENST00000425752; ENSP00000391417; ENSG00000177119. [Q4KMQ2-4]
ENST00000435642; ENSP00000413840; ENSG00000177119. [Q4KMQ2-4]
ENST00000441606; ENSP00000413137; ENSG00000177119. [Q4KMQ2-3]
GeneID196527.
KEGGhsa:196527.
UCSCuc001roo.3. human. [Q4KMQ2-1]
uc010slf.2. human. [Q4KMQ2-2]

Organism-specific databases

CTD196527.
GeneCardsGC12P045609.
H-InvDBHIX0010565.
HGNCHGNC:25240. ANO6.
HPAHPA038958.
MIM262890. phenotype.
608663. gene.
neXtProtNX_Q4KMQ2.
Orphanet806. Scott syndrome.
PharmGKBPA164715690.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG320103.
HOGENOMHOG000006509.
HOVERGENHBG069519.
InParanoidQ4KMQ2.
OMAQDYHLQP.
OrthoDBEOG7BS48W.
PhylomeDBQ4KMQ2.
TreeFamTF314265.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ4KMQ2.
BgeeQ4KMQ2.
CleanExHS_ANO6.
GenevestigatorQ4KMQ2.

Family and domain databases

InterProIPR007632. Anoctamin.
[Graphical view]
PANTHERPTHR12308. PTHR12308. 1 hit.
PfamPF04547. Anoctamin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSANO6. human.
GenomeRNAi196527.
NextBio89521.
PROQ4KMQ2.
SOURCESearch...

Entry information

Entry nameANO6_HUMAN
AccessionPrimary (citable) accession number: Q4KMQ2
Secondary accession number(s): A6NNM6 expand/collapse secondary AC list , B9EGG0, E7ENK4, E9PB30, E9PCT2, Q8N3Q2
Entry history
Integrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 89 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 12

Human chromosome 12: entries, gene names and cross-references to MIM