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Aliases for ICK Gene

Aliases for ICK Gene

  • Intestinal Cell Kinase 2 3 4 5
  • MAK-Related Kinase 2 3 4
  • Serine/Threonine-Protein Kinase ICK 2 3
  • Intestinal Cell (MAK-Like) Kinase 2 3
  • Laryngeal Cancer Kinase 2 3 4
  • LCK2 3 4
  • HICK 3 4
  • MRK 3 4
  • Serine/Threonine Protein Kinase 3
  • EC 2.7.11.1 4
  • KIAA0936 4
  • EJM10 3
  • ECO 3

External Ids for ICK Gene

Previous GeneCards Identifiers for ICK Gene

  • GC06M052868
  • GC06M052912
  • GC06M052974
  • GC06M052698

Summaries for ICK Gene

Entrez Gene Summary for ICK Gene

  • Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for ICK Gene

ICK (Intestinal Cell Kinase) is a Protein Coding gene. Diseases associated with ICK include Endocrine-Cerebroosteodysplasia and Epilepsy, Juvenile Myoclonic 10. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MAK.

UniProtKB/Swiss-Prot for ICK Gene

  • Required for ciliogenesis (PubMed:24797473). Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length (PubMed:24853502). Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity). May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity). Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner and this regulation requires its kinase activity (By similarity).

Gene Wiki entry for ICK Gene

Additional gene information for ICK Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ICK Gene

Genomics for ICK Gene

GeneHancer (GH) Regulatory Elements for ICK Gene

Promoters and enhancers for ICK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J053054 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +3.2 3173 9.3 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ICK MCM3 TRAM2 GSTA3 FBXO9
GH06J052992 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 16.2 +66.8 66792 4.1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC GSTA4 RN7SK GC06P052997 ENSG00000202198 MCM3 EFHC1 ICK TRAM2 GSTA3 GC06P052982
GH06J053032 Enhancer 0.9 Ensembl ENCODE dbSUPER 16.8 +27.4 27389 4 FOSL1 ZFHX2 ATF7 FOS ATF2 EGR2 GC06P053034 ICK FBXO9
GH06J052663 Promoter/Enhancer 1.5 Ensembl ENCODE 10 +397.4 397439 2.5 PKNOX1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 POLR2B E2F8 ZNF207 LOC730101 MCM3 EFHC1 IL17F LOC724104 RPL31P28 TRAM2-AS1 TRAM2 ICK TMEM14A
GH06J053009 Enhancer 0.9 ENCODE dbSUPER 15.8 +48.6 48649 7.1 HDAC1 PKNOX1 NFIB NEUROD1 SIN3A FOSL1 CTBP1 GATA3 ATF7 RCOR1 ICK FBXO9 GC06P053016 RN7SK ENSG00000202198
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ICK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ICK gene promoter:
  • SRY
  • STAT5A
  • RORalpha2
  • GCNF
  • GCNF-1
  • GCNF-2
  • Brachyury
  • Ik-3
  • HFH-1

Genomic Locations for ICK Gene

Genomic Locations for ICK Gene
chr6:53,001,279-53,061,833
(GRCh38/hg38)
Size:
60,555 bases
Orientation:
Minus strand
chr6:52,866,077-52,926,600
(GRCh37/hg19)
Size:
60,524 bases
Orientation:
Minus strand

Genomic View for ICK Gene

Genes around ICK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ICK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ICK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ICK Gene

Proteins for ICK Gene

  • Protein details for ICK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPZ9-ICK_HUMAN
    Recommended name:
    Serine/threonine-protein kinase ICK
    Protein Accession:
    Q9UPZ9
    Secondary Accessions:
    • A7MD41
    • O75985
    • Q5THL2
    • Q8IYH8
    • Q9BX17
    • Q9NYX3

    Protein attributes for ICK Gene

    Size:
    632 amino acids
    Molecular mass:
    71427 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76780.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ICK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ICK Gene

Post-translational modifications for ICK Gene

  • Autophosphorylated on serine and threonine residues. May play a role in enzyme activation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ICK Gene

Domains & Families for ICK Gene

Gene Families for ICK Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ICK Gene

Suggested Antigen Peptide Sequences for ICK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UPZ9

UniProtKB/Swiss-Prot:

ICK_HUMAN :
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
Family:
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
genes like me logo Genes that share domains with ICK: view

Function for ICK Gene

Molecular function for ICK Gene

UniProtKB/Swiss-Prot Function:
Required for ciliogenesis (PubMed:24797473). Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length (PubMed:24853502). Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity). May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity). Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner and this regulation requires its kinase activity (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.

Enzyme Numbers (IUBMB) for ICK Gene

Phenotypes From GWAS Catalog for ICK Gene

Gene Ontology (GO) - Molecular Function for ICK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 10699974
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IDA,IEA 10699974
GO:0005515 protein binding IPI 22939624
GO:0005524 ATP binding IDA 10699974
genes like me logo Genes that share ontologies with ICK: view
genes like me logo Genes that share phenotypes with ICK: view

Human Phenotype Ontology for ICK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ICK Gene

MGI Knock Outs for ICK:
  • Ick Ick<tm1a(KOMP)Mbp>

Animal Model Products

  • Taconic Biosciences Mouse Models for ICK

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ICK Gene

Localization for ICK Gene

Subcellular locations from UniProtKB/Swiss-Prot for ICK Gene

Nucleus. Cytoplasm, cytosol. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Also found at the ciliary tip (PubMed:24797473). Nuclear localization has been observed with a GFP-tagged construct in transfected HeLa cells (PubMed:12103360). {ECO:0000269 PubMed:12103360, ECO:0000269 PubMed:24797473}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ICK gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ICK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus ISS,IBA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with ICK: view

Pathways & Interactions for ICK Gene

No Data Available

SIGNOR curated interactions for ICK Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ICK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IDA 10699974
GO:0007165 signal transduction TAS 10699974
GO:0007275 multicellular organism development IEA --
GO:0010468 regulation of gene expression IBA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with ICK: view

No data available for Pathways by source for ICK Gene

Drugs & Compounds for ICK Gene

(4) Drugs for ICK Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Magnesium Approved Nutra 0
Beta-D-Glucose Experimental Pharma Target 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(1) Additional Compounds for ICK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with ICK: view

Transcripts for ICK Gene

mRNA/cDNA for ICK Gene

Unigene Clusters for ICK Gene

Intestinal cell (MAK-like) kinase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ICK Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c · 16d
SP1: - - - - -
SP2: - - - - - -
SP3: -
SP4: -
SP5: - -
SP6:

Relevant External Links for ICK Gene

GeneLoc Exon Structure for
ICK
ECgene alternative splicing isoforms for
ICK

Expression for ICK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ICK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ICK Gene

This gene is overexpressed in Synovial fluid (66.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ICK Gene



Protein tissue co-expression partners for ICK Gene

NURSA nuclear receptor signaling pathways regulating expression of ICK Gene:

ICK

SOURCE GeneReport for Unigene cluster for ICK Gene:

Hs.417022

mRNA Expression by UniProt/SwissProt for ICK Gene:

Q9UPZ9-ICK_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, pancreas, thymus, prostate, testis, ovary, small intestine and colon, with highest levels in placenta and testis. Not detected in spleen. Also expressed in many cancer cell lines.

Evidence on tissue expression from TISSUES for ICK Gene

  • Nervous system(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ICK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • ear
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • breast
  • chest wall
  • rib
  • rib cage
  • sternum
Abdomen:
  • adrenal gland
Pelvis:
  • penis
  • testicle
  • urethra
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • skin
genes like me logo Genes that share expression patterns with ICK: view

No data available for mRNA differential expression in normal tissues for ICK Gene

Orthologs for ICK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ICK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ICK 34 33
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ICK 34 33
  • 89.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ICK 34 33
  • 88.43 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ICK 34
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ick 16 34 33
  • 84.74 (n)
rat
(Rattus norvegicus)
Mammalia Ick 33
  • 84.63 (n)
chicken
(Gallus gallus)
Aves ICK 34 33
  • 74.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ICK 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ick 33
  • 63.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42366 34
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M04C9.5 35
  • 67 (a)
dyf-5 34
  • 46 (a)
OneToMany
H01G02.2 35
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IME2 36 34
  • 23 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1455 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 70 (a)
OneToMany
Cin.8284 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8284 33
Species where no ortholog for ICK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for ICK Gene

ENSEMBL:
Gene Tree for ICK (if available)
TreeFam:
Gene Tree for ICK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ICK: view image

Paralogs for ICK Gene

Paralogs for ICK Gene

(18) SIMAP similar genes for ICK Gene using alignment to 1 proteins:

  • ICK_HUMAN
genes like me logo Genes that share paralogs with ICK: view

Variants for ICK Gene

Sequence variations from dbSNP and Humsavar for ICK Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs118203918 pathogenic, Endocrine-cerebroosteodysplasia, Endocrine-cerebroosteodysplasia (ECO) [MIM:612651] 53,016,099(-) C/T coding_sequence_variant, missense_variant
rs200780900 benign, likely-benign, not specified, not provided 53,016,078(-) AAAA/AAA intron_variant, splice_donor_variant
VAR_042001 A renal clear cell carcinoma sample p.Phe115Tyr
rs138668959 likely-benign, not specified 53,018,438(-) C/T coding_sequence_variant, synonymous_variant
rs34168889 likely-benign, not specified 53,011,842(-) A/G coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for ICK Gene

Variant ID Type Subtype PubMed ID
nsv472194 CNV novel sequence insertion 20440878

Variation tolerance for ICK Gene

Residual Variation Intolerance Score: 13.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.26; 62.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ICK Gene

Human Gene Mutation Database (HGMD)
ICK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ICK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ICK Gene

Disorders for ICK Gene

MalaCards: The human disease database

(3) MalaCards diseases for ICK Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
endocrine-cerebroosteodysplasia
  • eco
epilepsy, juvenile myoclonic 10
  • epilepsy, juvenile myoclonic, susceptibility to, 10
ovarian embryonal carcinoma
  • embryonal carcinoma of ovary
- elite association - COSMIC cancer census association via MalaCards
Search ICK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ICK_HUMAN
  • Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]: Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. {ECO:0000269 PubMed:19185282, ECO:0000269 PubMed:24797473, ECO:0000269 PubMed:24853502}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ICK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ICK: view

No data available for Genatlas for ICK Gene

Publications for ICK Gene

  1. A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. (PMID: 19185282) Lahiry P … Hegele RA (American journal of human genetics 2009) 3 4 22 58
  2. The identification and subcellular localization of human MRK. (PMID: 12103360) Yang T … Chen J (Biomolecular engineering 2002) 2 3 4 58
  3. Intestinal cell kinase (ICK) localizes to the crypt region and requires a dual phosphorylation site found in map kinases. (PMID: 10699974) Togawa K … Rustgi AK (Journal of cellular physiology 2000) 3 4 22 58
  4. ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary transport. (PMID: 24797473) Chaya T … Furukawa T (The EMBO journal 2014) 3 4 58
  5. The promoter for intestinal cell kinase is head-to-head with F-Box 9 and contains functional sites for TCF7L2 and FOXA factors. (PMID: 20459822) Sturgill TW … Mayo MW (Molecular cancer 2010) 3 22 58

Products for ICK Gene

Sources for ICK Gene

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