UniProtKB - Q4KMQ2 (ANO6_HUMAN)
Protein
Anoctamin-6
Gene
ANO6
Organism
Homo sapiens (Human)
Status
Functioni
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. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes.By similarity5 Publications
Miscellaneous
The term 'anoctamin' was coined because these channels are anion selective and are predicted to 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.Curated
Caution
Contains ten transmembrane regions, not eight as predicted.By similarity
Catalytic activityi
- a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out)By similarityThis reaction proceeds in the forwardBy similarity direction.
- a β-D-galactosyl-(1↔1ʼ)-N-acylsphing-4-enine(out) = a β-D-galactosyl-(1↔1ʼ)-N-acylsphing-4-enine(in)By similarityThis reaction proceeds in the forwardBy similarity direction.
- a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out)By similarityThis reaction proceeds in the backwardBy similarity direction.
Activity regulationi
Exhibits synergistic gating by Ca2+ and voltage (By similarity). Inhibited by some non-specific cation channel blockers such as: ruthenium red, 2-aminoethyl diphenylborinate (2APB), gadolinium and cadmium ions (By similarity).By similarity
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 623 | CalciumBy similarity | 1 | |
Metal bindingi | 666 | CalciumBy similarity | 1 | |
Metal bindingi | 669 | CalciumBy similarity | 1 |
GO - Molecular functioni
- calcium activated cation channel activity Source: UniProtKB
- chloride channel activity Source: GO_Central
- intracellular calcium activated chloride channel activity Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
- phospholipid scramblase activity Source: Ensembl
- protein homodimerization activity Source: Ensembl
- voltage-gated chloride channel activity Source: UniProtKB
- voltage-gated ion channel activity Source: UniProtKB
GO - Biological processi
- activation of blood coagulation via clotting cascade Source: UniProtKB
- bleb assembly Source: UniProtKB
- blood coagulation Source: UniProtKB
- bone mineralization involved in bone maturation Source: Ensembl
- calcium activated galactosylceramide scrambling Source: Ensembl
- calcium activated phosphatidylcholine scrambling Source: GO_Central
- calcium activated phosphatidylserine scrambling Source: GO_Central
- calcium ion transmembrane transport Source: UniProtKB
- cation transport Source: UniProtKB
- chloride transmembrane transport Source: UniProtKB
- chloride transport Source: UniProtKB
- dendritic cell chemotaxis Source: Ensembl
- ion transmembrane transport Source: Reactome
- negative regulation of cell volume Source: UniProtKB
- neutrophil degranulation Source: Reactome
- phosphatidylserine exposure on blood platelet Source: UniProtKB
- plasma membrane phospholipid scrambling Source: UniProtKB
- pore complex assembly Source: UniProtKB
- positive regulation of apoptotic process Source: UniProtKB
- positive regulation of bone mineralization Source: UniProtKB
- positive regulation of endothelial cell apoptotic process Source: UniProtKB
- positive regulation of ion transmembrane transport Source: UniProtKB
- positive regulation of monocyte chemotaxis Source: UniProtKB
- positive regulation of phagocytosis, engulfment Source: UniProtKB
- positive regulation of potassium ion export across plasma membrane Source: BHF-UCL
- purinergic nucleotide receptor signaling pathway Source: UniProtKB
- sodium ion transmembrane transport Source: UniProtKB
- transmembrane transport Source: GO_Central
Keywordsi
Molecular function | Chloride channel, Ion channel, Voltage-gated channel |
Biological process | Ion transport, Lipid transport, Transport |
Ligand | Calcium, Chloride, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q4KMQ2 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels R-HSA-6798695, Neutrophil degranulation |
SIGNORi | Q4KMQ2 |
Protein family/group databases
TCDBi | 1.A.17.1.4, the calcium-dependent chloride channel (ca-clc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Anoctamin-6Alternative name(s): Small-conductance calcium-activated nonselective cation channel Short name: SCAN channel Transmembrane protein 16F |
Gene namesi | Name:ANO6 Synonyms:TMEM16F |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000177119.15 |
HGNCi | HGNC:25240, ANO6 |
MIMi | 608663, gene |
neXtProti | NX_Q4KMQ2 |
Subcellular locationi
Plasma membrane
- Cell membrane 4 Publications; Multi-pass membrane protein 4 Publications
Note: Shows an intracellular localization according to PubMed:22075693.
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Plasma Membrane
- integral component of plasma membrane Source: Ensembl
- plasma membrane Source: UniProtKB
Other locations
- cell surface Source: UniProtKB
- chloride channel complex Source: UniProtKB
- membrane Source: UniProtKB
- specific granule membrane Source: Reactome
- tertiary granule membrane Source: Reactome
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 300 | CytoplasmicCuratedAdd BLAST | 300 | |
Transmembranei | 301 – 321 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 322 – 375 | ExtracellularCuratedAdd BLAST | 54 | |
Transmembranei | 376 – 396 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 397 – 455 | CytoplasmicCuratedAdd BLAST | 59 | |
Transmembranei | 456 – 476 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 477 – 509 | ExtracellularCuratedAdd BLAST | 33 | |
Transmembranei | 510 – 530 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 531 – 551 | CytoplasmicCuratedAdd BLAST | 21 | |
Transmembranei | 552 – 572 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 573 – 601 | ExtracellularCuratedAdd BLAST | 29 | |
Transmembranei | 602 – 621 | HelicalBy similarityAdd BLAST | 20 | |
Topological domaini | 622 – 663 | CytoplasmicCuratedAdd BLAST | 42 | |
Transmembranei | 664 – 684 | HelicalBy similarityAdd BLAST | 21 | |
Transmembranei | 685 – 705 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 706 – 722 | CytoplasmicCuratedAdd BLAST | 17 | |
Transmembranei | 723 – 743 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 744 – 836 | ExtracellularCuratedAdd BLAST | 93 | |
Transmembranei | 837 – 857 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 858 – 910 | CytoplasmicCuratedAdd BLAST | 53 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Scott syndrome (SCTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMOrganism-specific databases
DisGeNETi | 196527 |
MalaCardsi | ANO6 |
MIMi | 262890, phenotype |
OpenTargetsi | ENSG00000177119 |
Orphaneti | 806, Scott syndrome |
PharmGKBi | PA164715690 |
Miscellaneous databases
Pharosi | Q4KMQ2, Tbio |
Polymorphism and mutation databases
BioMutai | ANO6 |
DMDMi | 116242820 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000191757 | 1 – 910 | Anoctamin-6Add BLAST | 910 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 329 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 330 ↔ 371 | By similarity | ||
Disulfide bondi | 337 ↔ 364 | By similarity | ||
Disulfide bondi | 348 ↔ 806 | By similarity | ||
Disulfide bondi | 351 ↔ 355 | By similarity | ||
Glycosylationi | 361 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 493 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Disulfide bondi | 595 ↔ 600 | By similarity | ||
Glycosylationi | 777 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 790 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 802 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | Q4KMQ2 |
jPOSTi | Q4KMQ2 |
MassIVEi | Q4KMQ2 |
MaxQBi | Q4KMQ2 |
PaxDbi | Q4KMQ2 |
PeptideAtlasi | Q4KMQ2 |
PRIDEi | Q4KMQ2 |
ProteomicsDBi | 19131 19507 62203 [Q4KMQ2-1] 62204 [Q4KMQ2-2] |
PTM databases
GlyConnecti | 1014, 7 N-Linked glycans (2 sites) |
GlyGeni | Q4KMQ2, 6 sites |
iPTMneti | Q4KMQ2 |
PhosphoSitePlusi | Q4KMQ2 |
SwissPalmi | Q4KMQ2 |
Expressioni
Tissue specificityi
Expressed in embryonic stem cell, fetal liver, retina, chronic myologenous leukemia and intestinal cancer.1 Publication
Gene expression databases
Bgeei | ENSG00000177119, Expressed in epithelial cell of pancreas and 223 other tissues |
ExpressionAtlasi | Q4KMQ2, baseline and differential |
Genevisiblei | Q4KMQ2, HS |
Organism-specific databases
HPAi | ENSG00000177119, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer.
By similarityGO - Molecular functioni
- protein homodimerization activity Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 128218, 42 interactors |
IntActi | Q4KMQ2, 34 interactors |
MINTi | Q4KMQ2 |
STRINGi | 9606.ENSP00000409126 |
Miscellaneous databases
RNActi | Q4KMQ2, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the anoctamin family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2514, Eukaryota |
GeneTreei | ENSGT00940000158969 |
HOGENOMi | CLU_006685_1_3_1 |
InParanoidi | Q4KMQ2 |
OMAi | EWDTVEY |
PhylomeDBi | Q4KMQ2 |
TreeFami | TF314265 |
Family and domain databases
InterProi | View protein in InterPro IPR032394, Anoct_dimer IPR007632, Anoctamin IPR031295, Anoctamin-6 |
PANTHERi | PTHR12308, PTHR12308, 1 hit PTHR12308:SF21, PTHR12308:SF21, 1 hit |
Pfami | View protein in Pfam PF16178, Anoct_dimer, 1 hit PF04547, Anoctamin, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q4KMQ2-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MKKMSRNVLL QMEEEEDDDD GDIVLENLGQ TIVPDLGSLE SQHDFRTPEF
60 70 80 90 100
EEFNGKPDSL FFNDGQRRID FVLVYEDESR KETNKKGTNE KQRRKRQAYE
110 120 130 140 150
SNLICHGLQL EATRSVLDDK LVFVKVHAPW EVLCTYAEIM HIKLPLKPND
160 170 180 190 200
LKNRSSAFGT LNWFTKVLSV DESIIKPEQE FFTAPFEKNR MNDFYIVDRD
210 220 230 240 250
AFFNPATRSR IVYFILSRVK YQVINNVSKF GINRLVNSGI YKAAFPLHDC
260 270 280 290 300
KFRRQSEDPS CPNERYLLYR EWAHPRSIYK KQPLDLIRKY YGEKIGIYFA
310 320 330 340 350
WLGYYTQMLL LAAVVGVACF LYGYLNQDNC TWSKEVCHPD IGGKIIMCPQ
360 370 380 390 400
CDRLCPFWKL NITCESSKKL CIFDSFGTLV FAVFMGVWVT LFLEFWKRRQ
410 420 430 440 450
AELEYEWDTV ELQQEEQARP EYEARCTHVV INEITQEEER IPFTAWGKCI
460 470 480 490 500
RITLCASAVF FWILLIIASV IGIIVYRLSV FIVFSAKLPK NINGTDPIQK
510 520 530 540 550
YLTPQTATSI TASIISFIII MILNTIYEKV AIMITNFELP RTQTDYENSL
560 570 580 590 600
TMKMFLFQFV NYYSSCFYIA FFKGKFVGYP GDPVYWLGKY RNEECDPGGC
610 620 630 640 650
LLELTTQLTI IMGGKAIWNN IQEVLLPWIM NLIGRFHRVS GSEKITPRWE
660 670 680 690 700
QDYHLQPMGK LGLFYEYLEM IIQFGFVTLF VASFPLAPLL ALVNNILEIR
710 720 730 740 750
VDAWKLTTQF RRLVPEKAQD IGAWQPIMQG IAILAVVTNA MIIAFTSDMI
760 770 780 790 800
PRLVYYWSFS VPPYGDHTSY TMEGYINNTL SIFKVADFKN KSKGNPYSDL
810 820 830 840 850
GNHTTCRYRD FRYPPGHPQE YKHNIYYWHV IAAKLAFIIV MEHVIYSVKF
860 870 880 890 900
FISYAIPDVS KRTKSKIQRE KYLTQKLLHE NHLKDMTKNM GVIAERMIEA
910
VDNNLRPKSE
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketF8VX71 | F8VX71_HUMAN | Anoctamin-6 | ANO6 | 45 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 837 | F → L in AAH98410 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_028109 | 128 | A → T. Corresponds to variant dbSNP:rs2162321EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046819 | 1 – 23 | MKKMS…DDGDI → MFCAA in isoform 3. CuratedAdd BLAST | 23 | |
Alternative sequenceiVSP_042893 | 23 | I → IGDVPASRRPFLTPHTHLPS SL in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_046820 | 843 – 910 | HVIYS…RPKSE → YLALLPRLGHSGMILAHCNL RLPVDCCMCYRFVDEIRLLE QLTSDFIDSLYYIFSISIIS IFFSVTFFFLLLSLGPTPCF SVSNFLS in isoform 4. CuratedAdd BLAST | 68 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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 |
CCDSi | CCDS31782.1 [Q4KMQ2-1] CCDS44865.1 [Q4KMQ2-4] CCDS44866.1 [Q4KMQ2-3] CCDS55819.1 [Q4KMQ2-2] |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000320560; ENSP00000320087; ENSG00000177119 [Q4KMQ2-1] ENST00000423947; ENSP00000409126; ENSG00000177119 [Q4KMQ2-2] ENST00000425752; ENSP00000391417; ENSG00000177119 [Q4KMQ2-4] ENST00000441606; ENSP00000413137; ENSG00000177119 [Q4KMQ2-3] |
GeneIDi | 196527 |
KEGGi | hsa:196527 |
UCSCi | uc001roo.4, human [Q4KMQ2-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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 |
CCDSi | CCDS31782.1 [Q4KMQ2-1] CCDS44865.1 [Q4KMQ2-4] CCDS44866.1 [Q4KMQ2-3] CCDS55819.1 [Q4KMQ2-2] |
RefSeqi | NP_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] |
3D structure databases
SMRi | Q4KMQ2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 128218, 42 interactors |
IntActi | Q4KMQ2, 34 interactors |
MINTi | Q4KMQ2 |
STRINGi | 9606.ENSP00000409126 |
Protein family/group databases
TCDBi | 1.A.17.1.4, the calcium-dependent chloride channel (ca-clc) family |
PTM databases
GlyConnecti | 1014, 7 N-Linked glycans (2 sites) |
GlyGeni | Q4KMQ2, 6 sites |
iPTMneti | Q4KMQ2 |
PhosphoSitePlusi | Q4KMQ2 |
SwissPalmi | Q4KMQ2 |
Polymorphism and mutation databases
BioMutai | ANO6 |
DMDMi | 116242820 |
Proteomic databases
EPDi | Q4KMQ2 |
jPOSTi | Q4KMQ2 |
MassIVEi | Q4KMQ2 |
MaxQBi | Q4KMQ2 |
PaxDbi | Q4KMQ2 |
PeptideAtlasi | Q4KMQ2 |
PRIDEi | Q4KMQ2 |
ProteomicsDBi | 19131 19507 62203 [Q4KMQ2-1] 62204 [Q4KMQ2-2] |
Protocols and materials databases
ABCDi | Q4KMQ2, 1 sequenced antibody |
Antibodypediai | 42608, 125 antibodies |
Genome annotation databases
Ensembli | ENST00000320560; ENSP00000320087; ENSG00000177119 [Q4KMQ2-1] ENST00000423947; ENSP00000409126; ENSG00000177119 [Q4KMQ2-2] ENST00000425752; ENSP00000391417; ENSG00000177119 [Q4KMQ2-4] ENST00000441606; ENSP00000413137; ENSG00000177119 [Q4KMQ2-3] |
GeneIDi | 196527 |
KEGGi | hsa:196527 |
UCSCi | uc001roo.4, human [Q4KMQ2-1] |
Organism-specific databases
CTDi | 196527 |
DisGeNETi | 196527 |
EuPathDBi | HostDB:ENSG00000177119.15 |
GeneCardsi | ANO6 |
HGNCi | HGNC:25240, ANO6 |
HPAi | ENSG00000177119, Low tissue specificity |
MalaCardsi | ANO6 |
MIMi | 262890, phenotype 608663, gene |
neXtProti | NX_Q4KMQ2 |
OpenTargetsi | ENSG00000177119 |
Orphaneti | 806, Scott syndrome |
PharmGKBi | PA164715690 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2514, Eukaryota |
GeneTreei | ENSGT00940000158969 |
HOGENOMi | CLU_006685_1_3_1 |
InParanoidi | Q4KMQ2 |
OMAi | EWDTVEY |
PhylomeDBi | Q4KMQ2 |
TreeFami | TF314265 |
Enzyme and pathway databases
PathwayCommonsi | Q4KMQ2 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels R-HSA-6798695, Neutrophil degranulation |
SIGNORi | Q4KMQ2 |
Miscellaneous databases
BioGRID-ORCSi | 196527, 2 hits in 844 CRISPR screens |
ChiTaRSi | ANO6, human |
GenomeRNAii | 196527 |
Pharosi | Q4KMQ2, Tbio |
PROi | PR:Q4KMQ2 |
RNActi | Q4KMQ2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000177119, Expressed in epithelial cell of pancreas and 223 other tissues |
ExpressionAtlasi | Q4KMQ2, baseline and differential |
Genevisiblei | Q4KMQ2, HS |
Family and domain databases
InterProi | View protein in InterPro IPR032394, Anoct_dimer IPR007632, Anoctamin IPR031295, Anoctamin-6 |
PANTHERi | PTHR12308, PTHR12308, 1 hit PTHR12308:SF21, PTHR12308:SF21, 1 hit |
Pfami | View protein in Pfam PF16178, Anoct_dimer, 1 hit PF04547, Anoctamin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ANO6_HUMAN | |
Accessioni | Q4KMQ2Primary (citable) accession number: Q4KMQ2 Secondary accession number(s): A6NNM6 Q8N3Q2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 13, 2005 |
Last sequence update: | October 17, 2006 | |
Last modified: | December 2, 2020 | |
This is version 142 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations