Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | type 2 diabetes mellitus | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:22158537 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | type 2 diabetes mellitus | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:22158537 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:11256078 | PMID:11263999 | PMID:12477932 | PMID:12724142 | PMID:14574404 | PMID:16382106 | PMID:18516069 | PMID:21873635 | PMID:22158537 | PMID:24509480 | PMID:25416956 | PMID:26186194 |
PMID:26239056 | PMID:28403169 | PMID:28514442 | PMID:28928238 | PMID:30021884 | PMID:33961781 | PMID:36724073 |
KCNK16 (Homo sapiens - human) |
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Kcnk16 (Mus musculus - house mouse) |
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Kcnk16 (Rattus norvegicus - Norway rat) |
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KCNK16 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Kcnk16 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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KCNK16 (Sus scrofa - pig) |
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KCNK16 (Chlorocebus sabaeus - green monkey) |
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Kcnk16 (Heterocephalus glaber - naked mole-rat) |
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Variants in KCNK16
23 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 | copy number loss | See cases [RCV000052181] | Chr6:37777369..45653843 [GRCh38] Chr6:37745145..45621580 [GRCh37] Chr6:37853123..45729558 [NCBI36] Chr6:6p21.2-21.1 |
pathogenic |
NM_001135106.1(KCNK16):c.689C>T (p.Ser230Leu) | single nucleotide variant | Malignant melanoma [RCV000061427] | Chr6:39316415 [GRCh38] Chr6:39284191 [GRCh37] Chr6:39392169 [NCBI36] Chr6:6p21.2 |
not provided |
GRCh38/hg38 6p21.2(chr6:39127448-40287232)x3 | copy number gain | See cases [RCV000134152] | Chr6:39127448..40287232 [GRCh38] Chr6:39095224..40254971 [GRCh37] Chr6:39203202..40362949 [NCBI36] Chr6:6p21.2 |
likely benign|uncertain significance |
GRCh38/hg38 6p21.2(chr6:39302297-39429561)x3 | copy number gain | See cases [RCV000136511] | Chr6:39302297..39429561 [GRCh38] Chr6:39270073..39397337 [GRCh37] Chr6:39378051..39505315 [NCBI36] Chr6:6p21.2 |
benign |
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 | copy number gain | See cases [RCV000143497] | Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_001135106.2(KCNK16):c.65T>A (p.Val22Asp) | single nucleotide variant | Inborn genetic diseases [RCV003273028] | Chr6:39322476 [GRCh38] Chr6:39290252 [GRCh37] Chr6:6p21.2 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 | copy number gain | not provided [RCV000745404] | Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) | copy number gain | not provided [RCV000767714] | Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1 |
pathogenic |
GRCh37/hg19 6p21.2(chr6:39201170-39473868)x3 | copy number gain | not provided [RCV000847835] | Chr6:39201170..39473868 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135106.2(KCNK16):c.149A>T (p.Glu50Val) | single nucleotide variant | Inborn genetic diseases [RCV003251003] | Chr6:39322392 [GRCh38] Chr6:39290168 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_031460.4(KCNK17):c.61A>G (p.Ser21Gly) | single nucleotide variant | not provided [RCV001637785] | Chr6:39314260 [GRCh38] Chr6:39282036 [GRCh37] Chr6:6p21.2 |
benign |
NM_001135106.2(KCNK16):c.272G>A (p.Ser91Asn) | single nucleotide variant | Inborn genetic diseases [RCV003293819] | Chr6:39319075 [GRCh38] Chr6:39286851 [GRCh37] Chr6:6p21.2 |
uncertain significance |
GRCh37/hg19 6p21.2(chr6:39069267-39301460)x3 | copy number gain | not provided [RCV001258728] | Chr6:39069267..39301460 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135106.2(KCNK16):c.566T>C (p.Met189Thr) | single nucleotide variant | Inborn genetic diseases [RCV003261402] | Chr6:39316877 [GRCh38] Chr6:39284653 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135106.2(KCNK16):c.253G>A (p.Gly85Ser) | single nucleotide variant | Inborn genetic diseases [RCV002689350] | Chr6:39319094 [GRCh38] Chr6:39286870 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135106.2(KCNK16):c.647G>A (p.Gly216Glu) | single nucleotide variant | Inborn genetic diseases [RCV002797506] | Chr6:39316796 [GRCh38] Chr6:39284572 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135106.2(KCNK16):c.476A>C (p.Asp159Ala) | single nucleotide variant | Inborn genetic diseases [RCV002977631] | Chr6:39317805 [GRCh38] Chr6:39285581 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135106.2(KCNK16):c.38G>A (p.Arg13Gln) | single nucleotide variant | Inborn genetic diseases [RCV002768057] | Chr6:39322503 [GRCh38] Chr6:39290279 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135106.2(KCNK16):c.40G>T (p.Val14Leu) | single nucleotide variant | Inborn genetic diseases [RCV002898247] | Chr6:39322501 [GRCh38] Chr6:39290277 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135106.2(KCNK16):c.485G>A (p.Arg162Lys) | single nucleotide variant | Inborn genetic diseases [RCV003208785] | Chr6:39317796 [GRCh38] Chr6:39285572 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135106.2(KCNK16):c.450T>G (p.His150Gln) | single nucleotide variant | Inborn genetic diseases [RCV003204899] | Chr6:39317831 [GRCh38] Chr6:39285607 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135106.2(KCNK16):c.366G>T (p.Gln122His) | single nucleotide variant | Inborn genetic diseases [RCV003191068] | Chr6:39317915 [GRCh38] Chr6:39285691 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135106.2(KCNK16):c.158G>A (p.Arg53His) | single nucleotide variant | Inborn genetic diseases [RCV003309497] | Chr6:39322383 [GRCh38] Chr6:39290159 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135106.2(KCNK16):c.436G>A (p.Gly146Arg) | single nucleotide variant | Inborn genetic diseases [RCV003342049] | Chr6:39317845 [GRCh38] Chr6:39285621 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135106.2(KCNK16):c.326T>G (p.Ile109Arg) | single nucleotide variant | Inborn genetic diseases [RCV003383798] | Chr6:39319021 [GRCh38] Chr6:39286797 [GRCh37] Chr6:6p21.2 |
uncertain significance |
GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1 | copy number loss | not provided [RCV003485510] | Chr6:35562152..42003452 [GRCh37] Chr6:6p21.31-21.1 |
pathogenic |
GRCh37/hg19 6p21.2(chr6:39054113-40272338)x3 | copy number gain | not provided [RCV003484641] | Chr6:39054113..40272338 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001135105.2(KCNK16):c.*84C>T | single nucleotide variant | not provided [RCV003431841] | Chr6:39315040 [GRCh38] Chr6:39282816 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_032115.4(KCNK16):c.803-175C>T | single nucleotide variant | not provided [RCV003428844] | Chr6:39315304 [GRCh38] Chr6:39283080 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001135106.2(KCNK16):c.817G>A (p.Val273Ile) | single nucleotide variant | not provided [RCV003428845] | Chr6:39316287 [GRCh38] Chr6:39284063 [GRCh37] Chr6:6p21.2 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | entire extraembryonic component | |
High | 1 | |||||||||||||||
Medium | 7 | 1 | 22 | |||||||||||||
Low | 112 | 9 | 200 | 2 | 1 | 2 | 14 | 243 | 1 | |||||||
Below cutoff | 743 | 845 | 685 | 98 | 223 | 76 | 588 | 383 | 1378 | 21 | 542 | 839 | 22 | 185 | 398 | 1 |
RefSeq Acc Id: | ENST00000373227 ⟹ ENSP00000362324 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000373229 ⟹ ENSP00000362326 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000425054 ⟹ ENSP00000391498 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000437525 ⟹ ENSP00000415375 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000507712 ⟹ ENSP00000423842 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001135105 ⟹ NP_001128577 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001135106 ⟹ NP_001128578 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001135107 ⟹ NP_001128579 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001363784 ⟹ NP_001350713 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_032115 ⟹ NP_115491 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017011346 ⟹ XP_016866835 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054356512 ⟹ XP_054212487 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_115491 ⟸ NM_032115 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q6X6Z5 (UniProtKB/Swiss-Prot), Q6X6Z4 (UniProtKB/Swiss-Prot), Q6X6Z3 (UniProtKB/Swiss-Prot), Q5TCF3 (UniProtKB/Swiss-Prot), Q2M2N9 (UniProtKB/Swiss-Prot), B5TJL9 (UniProtKB/Swiss-Prot), Q9H591 (UniProtKB/Swiss-Prot), Q96T55 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001128577 ⟸ NM_001135105 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q96T55 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001128579 ⟸ NM_001135107 |
- Peptide Label: | isoform 4 |
- UniProtKB: | Q96T55 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001128578 ⟸ NM_001135106 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q96T55 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016866835 ⟸ XM_017011346 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q96T55 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001350713 ⟸ NM_001363784 |
- Peptide Label: | isoform 5 |
- UniProtKB: | D6RC57 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSP00000391498 ⟸ ENST00000425054 |
RefSeq Acc Id: | ENSP00000362324 ⟸ ENST00000373227 |
RefSeq Acc Id: | ENSP00000362326 ⟸ ENST00000373229 |
RefSeq Acc Id: | ENSP00000423842 ⟸ ENST00000507712 |
RefSeq Acc Id: | ENSP00000415375 ⟸ ENST00000437525 |
RefSeq Acc Id: | XP_054212487 ⟸ XM_054356512 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q96T55-F1-model_v2 | AlphaFold | Q96T55 | 1-309 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:14464 | AgrOrtholog |
COSMIC | KCNK16 | COSMIC |
Ensembl Genes | ENSG00000095981 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000373227 | ENTREZGENE |
ENST00000373227.8 | UniProtKB/Swiss-Prot | |
ENST00000373229 | ENTREZGENE | |
ENST00000373229.9 | UniProtKB/Swiss-Prot | |
ENST00000425054 | ENTREZGENE | |
ENST00000425054.6 | UniProtKB/Swiss-Prot | |
ENST00000437525 | ENTREZGENE | |
ENST00000437525.3 | UniProtKB/Swiss-Prot | |
ENST00000507712 | ENTREZGENE | |
ENST00000507712.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.287.70 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000095981 | GTEx |
HGNC ID | HGNC:14464 | ENTREZGENE |
Human Proteome Map | KCNK16 | Human Proteome Map |
InterPro | 2pore_dom_K_chnl | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2pore_dom_K_chnl_TASK | UniProtKB/Swiss-Prot | |
K_chnl_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:83795 | UniProtKB/Swiss-Prot |
NCBI Gene | 83795 | ENTREZGENE |
OMIM | 607369 | OMIM |
PANTHER | POTASSIUM CHANNEL SUBFAMILY K MEMBER 16 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR11003 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Ion_trans_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA30057 | PharmGKB |
PRINTS | 2POREKCHANEL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TASKCHANNEL | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | Voltage-gated potassium channels | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B5TJL9 | ENTREZGENE |
D6RC57 | ENTREZGENE, UniProtKB/TrEMBL | |
KCNKG_HUMAN | UniProtKB/Swiss-Prot | |
Q2M2N9 | ENTREZGENE | |
Q5TCF3 | ENTREZGENE | |
Q6X6Z3 | ENTREZGENE | |
Q6X6Z4 | ENTREZGENE | |
Q6X6Z5 | ENTREZGENE | |
Q96T55 | ENTREZGENE | |
Q9H591 | ENTREZGENE | |
UniProt Secondary | B5TJL9 | UniProtKB/Swiss-Prot |
Q2M2N9 | UniProtKB/Swiss-Prot | |
Q5TCF3 | UniProtKB/Swiss-Prot | |
Q6X6Z3 | UniProtKB/Swiss-Prot | |
Q6X6Z4 | UniProtKB/Swiss-Prot | |
Q6X6Z5 | UniProtKB/Swiss-Prot | |
Q9H591 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-02-10 | KCNK16 | potassium two pore domain channel subfamily K member 16 | KCNK16 | potassium channel, two pore domain subfamily K, member 16 | Symbol and/or name change | 5135510 | APPROVED |
2015-01-20 | KCNK16 | potassium channel, two pore domain subfamily K, member 16 | KCNK16 | potassium channel, subfamily K, member 16 | Symbol and/or name change | 5135510 | APPROVED |