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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MINK1 Gene

protein-coding GIFtS: 61
GCID: GC17P004736

Misshapen-Like Kinase 1

(Previous name: misshapen-like kinase 1 (zebrafish))

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Misshapen-Like Kinase 1¹ ²		MAPK/ERK Kinase Kinase Kinase 6² ³
Misshapen/NIK-Related Kinase¹ ² ³		MEK Kinase Kinase 6² ³
MINK² ³ ⁵		MEKKK 6² ³
GCK Family Kinase MiNK² ³		EC 2.7.11.1³ ⁸
Mitogen-Activated Protein Kinase Kinase Kinase Kinase 6² ³		Misshapen-Like Kinase 1 (Zebrafish)¹
B55² ³		hMINK²
MAP4K6² ³		hMINKbeta²
YSK2² ³		Serine/Threonine Protein Kinase²
ZC3² ³		EC 2.7.11⁸

External Ids:	HGNC: 17565¹	Entrez Gene: 50488²	Ensembl: ENSG00000141503⁷	OMIM: 609426⁵	UniProtKB: Q8N4C8³

Export aliases for MINK1 gene to outside databases

Previous GC identifer: GC17P004684

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MINK1 Gene:

This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is

structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related

kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course

of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways.

Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been

identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for MINK1 Gene:

MINK1 (misshapen-like kinase 1) is a protein-coding gene. Diseases associated with MINK1 include atrophic rhinitis, and balanitis, and among its related super-pathways are MAPK signaling pathway. GO annotations related to this gene include protein serine/threonine kinase activity and small GTPase regulator activity. An important paralog of this gene is TAOK2.

UniProtKB/Swiss-Prot: MINK1_HUMAN, Q8N4C8

Function: Serine/threonine kinase which acts as a negative regulator of Ras-related Rap2-mediated signal

transduction to control neuronal structure and AMPA receptor trafficking. Required for normal synaptic density,

dendrite complexity, as well as surface AMPA receptor expression in hippocampal neurons. Can activate the JNK and

MAPK14/p38 pathways and mediates stimulation of the stress-activated protein kinase MAPK14/p38 MAPK downstream of

the Raf/ERK pathway. Phosphorylates: TANC1 upon stimulation by RAP2A, MBP and SMAD1. Has an essential function in

negative selection of thymocytes, perhaps by coupling NCK1 to activation of JNK1

Function: Isoform 4 can activate the JNK pathway. Involved in the regulation of actin cytoskeleton reorganization,

cell-matrix adhesion, cell-cell adhesion and cell migration

Gene Wiki entry for MINK1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NT_010718.16 NC_018928.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MINK1 gene promoter:
AP-1 ATF-2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MINK1 promoter sequence

Search SABiosciences Chromatin IP Primers for MINK1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MINK1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.2 Ensembl cytogenetic band: 17p13.2 HGNC cytogenetic band: 17p13.2

MINK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MINK1 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P004736: view genomic region (about GC identifiers)

Start:	4,736,635 bp from pter	End:	4,801,356 bp from pter
Size:	64,722 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MINK1_HUMAN, Q8N4C8 (See protein sequence)

Recommended Name: Misshapen-like kinase 1

Size: 1332 amino acids; 149822 Da

Cofactor: Magnesium (By similarity)

Subunit: Interacts with TANC1 (By similarity). Interacts with RAP2A. Isoform 4 interacts with NCK1

Subcellular location: Cytoplasm. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By

similarity). Cell projection, axon (By similarity). Cell projection, dendrite (By similarity)

Subcellular location: Isoform 4: Golgi apparatus

Secondary accessions: D3DTK3 D3DTK4 Q5U8Z0 Q9P1X1 Q9P2R8

Alternative splicing: 5 isoforms: Q8N4C8-1 Q8N4C8-2 Q8N4C8-3 Q8N4C8-4 Q8N4C8-5

Explore the universe of human proteins at neXtProt for MINK1: NX_Q8N4C8

Explore proteomics data for MINK1 at MOPED

Post-translational modifications:

UniProtKB: Autophosphorylated

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q8N4C8

4/32 DME Specific Peptides for MINK1 (Q8N4C8) (see all 32)

PFIRDQP

WMAPEVI

RNDKVFF

MEFCGAGS

MINK1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (4 alternative transcripts):

NP_001020108.1 NP_056531.1 NP_722549.2 NP_733763.1

ENSEMBL proteins:

ENSP00000347427 ENSP00000269296 ENSP00000461500 ENSP00000406487 ENSP00000459269

ENSP00000459699 ENSP00000459102

Human Recombinant Protein Products for MINK1:

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	Novus Biologicals MINK1 Protein Novus Biologicals MINK1 Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for MINK1

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	18930710
GO:0005794	Golgi apparatus	IDA	15469942
GO:0005886	plasma membrane	IEA	--
GO:0014069	postsynaptic density	IEA	--
GO:0030054	cell junction	IEA	--

MINK1 for ontologies About GeneDecksing

MINK1 Antibody Products:

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Assay Products for MINK1:

	Browse Kits and Assays available from EMD Millipore
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	GenScript MINK1-Activity-based Kinase Assay for Compound Screening
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	Cloud-Clone Corp. ELISAs for MINK1 Cloud-Clone Corp. CLIAs for MINK1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

IUPHAR Guide to PHARMACOLOGY protein family classification: misshapen-like kinase 1

MSN subfamily

5/6 InterPro protein domains (see all 6):

IPR017441 Protein_kinase_ATP_BS

IPR002290 Ser/Thr_dual-sp_kinase_dom

IPR011009 Kinase-like_dom

IPR008271 Ser/Thr_kinase_AS

IPR000719 Prot_kinase_cat_dom

Graphical View of Domain Structure for InterPro Entry Q8N4C8

ProtoNet protein and cluster: Q8N4C8

1 Blocks protein domain: IPB001180 Citron-like

UniProtKB/Swiss-Prot: MINK1_HUMAN, Q8N4C8

Similarity: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily

Similarity: Contains 1 CNH domain

Similarity: Contains 1 protein kinase domain

MINK1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MINK1_HUMAN, Q8N4C8

Function: Serine/threonine kinase which acts as a negative regulator of Ras-related Rap2-mediated signal

transduction to control neuronal structure and AMPA receptor trafficking. Required for normal synaptic density,

dendrite complexity, as well as surface AMPA receptor expression in hippocampal neurons. Can activate the JNK and

MAPK14/p38 pathways and mediates stimulation of the stress-activated protein kinase MAPK14/p38 MAPK downstream of

the Raf/ERK pathway. Phosphorylates: TANC1 upon stimulation by RAP2A, MBP and SMAD1. Has an essential function in

negative selection of thymocytes, perhaps by coupling NCK1 to activation of JNK1

Function: Isoform 4 can activate the JNK pathway. Involved in the regulation of actin cytoskeleton reorganization,

cell-matrix adhesion, cell-cell adhesion and cell migration

Catalytic activity: ATP + a protein = ADP + a phosphoprotein

Induction: Activated after Ras induction via a mechanism involving reactive oxygen species

Enzyme Numbers (IUBMB): EC 2.7.11.1¹ ² EC 2.7.11²

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004672	protein kinase activity	TAS	10708748
GO:0004674	protein serine/threonine kinase activity	IDA	18930710
GO:0004713	protein tyrosine kinase activity	--	--
GO:0005083	small GTPase regulator activity	IEA	--
GO:0005515	protein binding	IPI	15469942

MINK1 for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for MINK1:

Decreased substrate adherent c

Increased cell death in HCC-19

Increased cell spreading

1 MGI phenotypic allele

for Mink1 (no phenotypes)

MINK1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for MINK1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MINK1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MINK1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MINK1

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MINK1
		8/93 QIAGEN miScript miRNA Assays for microRNAs that regulate MINK1 (see all 93):
		hsa-miR-3938 hsa-miR-520e hsa-miR-520f hsa-miR-4254 hsa-miR-106a hsa-miR-15a hsa-miR-342-3p hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: MINK1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MINK1
		Search LifeMap BioReagents cell lines for MINK1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MINK1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for MINK1 About

See pathways by source

SuperPath

Contained pathways About

MAPK signaling pathway

MAPK signaling pathway

0.50

Insulin Signaling

Insulin Signaling

2 BioSystems Pathways for MINK1

	MAPK signaling pathway
	Insulin Signaling

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MINK1

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/18 Interacting proteins for MINK1 (Q8N4C8³ ENSP00000347427⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM1	P62158³, ENSP00000349467⁴	I2D: score=1 STRING: ENSP00000349467
CALM2	P62158³	I2D: score=1
CALM3	P62158³	I2D: score=1
ABI1	Q8IZP0³, ENSP00000365312⁴	I2D: score=2 STRING: ENSP00000365312
YWHAB	P31946³, ENSP00000300161⁴	I2D: score=2 STRING: ENSP00000300161

About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001952	regulation of cell-matrix adhesion	IMP	15469942
GO:0006468	protein phosphorylation	ISS	--
GO:0006950	response to stress	ISS	--
GO:0007243	intracellular protein kinase cascade	ISS	--
GO:0007254	JNK cascade	TAS	10708748

MINK1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MINK1

1 HMDB Compound for MINK1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Magnesium	Magnesium (see all 2)	7439-95-4	--

Search CenterWatch for drugs/clinical trials and news about MINK1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MINK1 gene (4 alternative transcripts):

NM_001024937.3 NM_015716.4 NM_153827.4 NM_170663.4

Unigene Cluster for MINK1:

Misshapen-like kinase 1

Hs.443417 [show with all ESTs]

Unigene Representative Sequence: BC094686

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000355280(uc010vsl.2 uc010vsm.2 uc010vsn.2) ENST00000572330

ENST00000347992(uc010vsk.2) ENST00000574453(uc010vso.2) ENST00000453408

ENST00000577021 ENST00000571207(uc010vsp.2) ENST00000572629 ENST00000571526

ENST00000572304 ENST00000574871 ENST00000575511 ENST00000576037

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MINK1
		8/93 QIAGEN miScript miRNA Assays for microRNAs that regulate MINK1 (see all 93):
		hsa-miR-3938 hsa-miR-520e hsa-miR-520f hsa-miR-4254 hsa-miR-106a hsa-miR-15a hsa-miR-342-3p hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: MINK1 3' UTR sequence

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Additional mRNA sequence:

AB035698.1 AB041926.1 AF218033.1 AY775058.1 BC028888.1 BC034673.1 BC094686.1

17 DOTS entries:

DT.450495 DT.101966234 DT.100794683 DT.95135307 DT.100794679 DT.100794681 DT.97859616 DT.100794680

DT.95084687 DT.102838682 DT.95135308 DT.92409449 DT.120991493 DT.120991431 DT.97859617 DT.121427451

DT.95332072

24/57 AceView cDNA sequences (see all 57):

BM717445 BM718065 BF724524 AA366908 CA454128 BI908161 AL157418 BF868921

BM715816 AI125161 BM967105 BM701243 BG680567 CK823412 BG757547 BU838349

AK096610 AW802152 BM906355 AI087028 BE882515 BM796630 BI754257 CK823411

GeneLoc Exon Structure

5/15 Alternative Splicing Database (ASD) splice patterns (SP) for MINK1 (see all 15) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12a	·	12b	^	13	^	14a	·	14b	^	15	^	16a	·	16b	^	17	^	18a	·	18b	·	18c	^	19a	·	19b	^	20a	·
SP1:
SP2:
SP3:																																													-
SP4:
SP5:

ExUns:	20b	·	20c	^	21	^	22a	·	22b	^	23	^	24a	·	24b	^	25	^	26a	·	26b	·	26c	·	26d	^	27	^	28a	·	28b	^	29a	·	29b	·	29c
SP1:							-
SP2:
SP3:							-
SP4:							-
SP5:

ECgene alternative splicing isoforms for MINK1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MINK1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCCTTCCCCG

About this image

See MINK1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MINK1

SOURCE GeneReport for Unigene cluster: Hs.443417

UniProtKB/Swiss-Prot: MINK1_HUMAN, Q8N4C8

Tissue specificity: Expressed in the brain, isoform 2 is more abundant than isoform 1. Isoform 3 is ubiquitously

expressed. Isoform 1 is most abundant in the skeletal muscle. Isoform 4 is ubiquitously expressed with relative

high levels in brain, skeletal muscle, pancreas and testis

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MINK1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MINK1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MINK1 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mink1^{1 , 5}	misshapen-like kinase 1 (zebrafish)^{1, 5}	91(n)¹ 97.47(a)¹		11 (43.00 cM)⁵ 50932¹ NM_176893.2¹ NP_795712.2¹ 70562890⁵
lizard (Anolis carolinensis)	Reptilia	MINK1⁶	Uncharacterized protein	75(a)	1 ↔ 1	GL344055.1(1901-57511)
zebrafish (Danio rerio)	Actinopterygii	mink1⁶	misshapen-like kinase 1	75(a)	1 ↔ 1	5(39906030-39985212)
fruit fly (Drosophila melanogaster)	Insecta	msn⁶	misshapen	40(a)	1 → many	3L(2554847-2586540)
worm (Caenorhabditis elegans)	Secernentea	mig-15¹	Protein MIG-15	59(n) 63.46(a)		181248 NM_001029802.2 NP_001024973.1

ENSEMBL Gene Tree for MINK1 (if available)
TreeFam Gene Tree for MINK1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MINK1 gene

TAOK2² MAP4K5² TAOK3² NRK² TNIK² MAP4K2² MAP4K1² MAP4K3²

MAP4K4² STK10² TAOK1² SLK²

18/41 SIMAP similar genes for MINK1 using alignment to 5 protein entries: MINK1_HUMAN (see all proteins) (see all similar genes):

MINK MAP4K5 TNIK MYO3A PHKG2 MAP4K2

MAP4K4 STK25 MYO3B PAK2 STK3 TAOK3

MST4 NEK9 STK24 STK4/SLC36AL fusion PAK4 DKFZp686J1430

MINK1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_046061⁴		A gastric adenocarcinoma sample⁴	--	see VAR_046061	2	E V	mis⁴		0	--	--	--	--
VAR_040800⁴		--	--	see VAR_040800	2	I V	mis⁴		0	--	--	--	--
rs137881062^1,2		--	4721497(+)	`AGGCCA/GAGGCA`	4	--	us2k¹		0	--	--	--	--
rs79769261^1,2	C,F	--	4721591(+)	`CCAGGT/CGTAGT`	4	--	us2k¹		2		NA EA	240
rs140839976^1,2	C	--	4721604(+)	`CATGCA/GCTGCC`	4	--	us2k¹		0	--	--	--	--
rs145856844^1,2		--	4721606(+)	`TGCGCC/TGCCTG`	4	--	us2k¹		0	--	--	--	--
rs148167388^1,2		--	4721647(+)	`GAGGAC/TAGCTT`	4	--	us2k¹		0	--	--	--	--
rs180688691^1,2		--	4721809(+)	`CGGGCA/GGATCA`	4	--	us2k¹		0	--	--	--	--
rs62073630^1,2		--	4722065(+)	`ATTGAC/TTTGAA`	4	--	us2k¹		0	--	--	--	--
rs145759948^1,2	C	--	4722327(+)	`TGAGGA/GTCATA`	4	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MINK1 (4736635 - 4801356 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/13 variations for MINK1 (see all 13): About this table

Variant ID	Type	Subtype	PubMed ID
esv2715558	CNV	Deletion	23290073
esv2715559	CNV	Deletion	23290073
nsv1953	CNV	Insertion	18451855
esv1005973	CNV	Insertion	20482838
esv1520671	CNV	Insertion	17803354
esv2537517	CNV	Insertion	19546169
nsv509647	CNV	Insertion	20534489
nsv907620	CNV	Loss	21882294
nsv833347	CNV	Loss	17160897
nsv833350	CNV	Loss	17160897

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 609426 OMIM disorders: --

8 diseases for MINK1: About MalaCards

atrophic rhinitis balanitis progressive supranuclear palsy cerebritis

long qt syndrome rhinitis choroiditis neuronitis

MINK1 for disorders About GeneDecksing

Genetic Association Database (GAD): MINK1
Human Genome Epidemiology (HuGE) Navigator: MINK1 (3 documents)

Export disorders for MINK1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MINK1 gene, integrated from 9 sources (see all 42):
(articles sorted by number of sources associating them with MINK1)

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Molecular cloning of MINK, a novel member of mammalian GCK family kinases, which is up-regulated during postnatal mouse cerebral development. (PubMed id 10708748)^{1, 2, 3} Dan I.... Kusumi A. (2000)
Identification and functional characterization of a novel human misshapen/Nck interacting kinase-related kinase, hMINK beta. (PubMed id 15469942)^{1, 2, 9} Hu Y.... Xu X. (2004)
MINK is a Rap2 effector for phosphorylation of the postsynaptic scaffold protein TANC1. (PubMed id 18930710)^{1, 2} Nonaka H....Kariya K. (2008)
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. (PubMed id 18752142)^{1, 4} Berge K.E....Leren T.P. (2008)
Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation. (PubMed id 16760206)^{1, 4} Fatini C....Gensini G.F. (2006)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
MinK gene polymorphism in the pathogenesis of lone atrial fibrillation. (PubMed id 17165161)^{1, 4} Prystupa A....Lorenc T. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Overlapping of MINK and CHRNE gene loci in the course of mammalian evolution. (PubMed id 12087176)^{1, 3} Dan I.... Kusumi A. (2002)
Computational and experimental studies on human misshapen/NIK-related kinase MINK-1. (PubMed id 15032605)^{1, 9} Qu K....Xu D. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 50488	HGNC: 17565	AceView: MINK	Ensembl:ENSG00000141503	euGenes: HUgn50488
ECgene: MINK1	H-InvDB: MINK1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MINK1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MINK1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MINK1 gene:
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GeneCards and IP:
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