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Aliases for KIAA1217 Gene

Aliases for KIAA1217 Gene

  • KIAA1217 2 3
  • SKT 3 4
  • Likely Orthologue Of Mus Musculus Enhancer Trap Locus 4 3
  • Sickle Tail Protein Homolog 3
  • Sickle Tail 2
  • ETL4 3

External Ids for KIAA1217 Gene

Previous GeneCards Identifiers for KIAA1217 Gene

  • GC10P024502
  • GC10P024512
  • GC10P024538
  • GC10P024023

Summaries for KIAA1217 Gene

GeneCards Summary for KIAA1217 Gene

KIAA1217 (KIAA1217) is a Protein Coding gene. Diseases associated with KIAA1217 include Adjustment Disorder. An important paralog of this gene is SRCIN1.

UniProtKB/Swiss-Prot for KIAA1217 Gene

  • Required for normal development of intervertebral disks.

Additional gene information for KIAA1217 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1217 Gene

Genomics for KIAA1217 Gene

GeneHancer (GH) Regulatory Elements for KIAA1217 Gene

Promoters and enhancers for KIAA1217 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
GH10I024206 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 551.5 +513.8 513773 4.9 FOXA2 ARID4B FEZF1 DMAP1 ZNF48 YY1 GLIS2 ATF7 KLF7 FOS KIAA1217 GC10P024187 ENSG00000277563
GH10I024462 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550 +772.3 772263 8.8 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 IRF4 ZNF48 YY1 ZNF213 LOC105376455 KIAA1217 ENSG00000279029
GH10I024446 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 550 +753.6 753562 3.9 PKNOX1 JUN MAX ZNF384 FEZF1 BATF FOSL1 ZNF335 SCRT2 FOS GC10P024449 GC10M024447 KIAA1217
GH10I023694 Promoter 0.9 EPDnew 550.8 0.0 -5 0.1 CTCF ZBTB10 MXI1 MAZ ZBTB21 ZNF398 ATF2 HDAC2 GLIS1 ZNF629 KIAA1217 GC10P023565
GH10I023772 Promoter 0.5 EPDnew 550.2 +78.1 78092 0.1 KIAA1217 GC10M023865
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KIAA1217 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIAA1217 gene promoter:

Genomic Locations for KIAA1217 Gene

Genomic Locations for KIAA1217 Gene
chr10:23,694,746-24,547,848
(GRCh38/hg38)
Size:
853,103 bases
Orientation:
Plus strand
chr10:23,983,675-24,836,772
(GRCh37/hg19)

Genomic View for KIAA1217 Gene

Genes around KIAA1217 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA1217 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA1217 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1217 Gene

Proteins for KIAA1217 Gene

  • Protein details for KIAA1217 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T5P2-SKT_HUMAN
    Recommended name:
    Sickle tail protein homolog
    Protein Accession:
    Q5T5P2
    Secondary Accessions:
    • A5LHW9
    • A6NLF3
    • A6PVQ5
    • A6PVQ6
    • A6PVQ7
    • B9EGK4
    • Q4KMG4
    • Q5T5P3
    • Q5T7H3
    • Q6MZZ6
    • Q6ZUI4
    • Q8WV45
    • Q9NSR2
    • Q9ULK3

    Protein attributes for KIAA1217 Gene

    Size:
    1943 amino acids
    Molecular mass:
    214116 Da
    Quaternary structure:
    • Interacts with CPNE4 (via VWFA domain).
    SequenceCaution:
    • Sequence=AAH18764.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AL833280; Type=Frameshift; Positions=976; Evidence={ECO:0000305}; Sequence=BAC86241.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAF63529.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAE45879.1; Type=Erroneous termination; Positions=1251; Note=Translated as Leu.; Evidence={ECO:0000305}; Sequence=CAI12212.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI14084.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40182.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA1217 Gene

neXtProt entry for KIAA1217 Gene

Post-translational modifications for KIAA1217 Gene

No data available for DME Specific Peptides for KIAA1217 Gene

Domains & Families for KIAA1217 Gene

Gene Families for KIAA1217 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KIAA1217 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIAA1217 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA1217: view

No data available for UniProtKB/Swiss-Prot for KIAA1217 Gene

Function for KIAA1217 Gene

Molecular function for KIAA1217 Gene

GENATLAS Biochemistry:
murine PI40 homolog
UniProtKB/Swiss-Prot Function:
Required for normal development of intervertebral disks.

Phenotypes From GWAS Catalog for KIAA1217 Gene

Gene Ontology (GO) - Molecular Function for KIAA1217 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with KIAA1217: view
genes like me logo Genes that share phenotypes with KIAA1217: view

Animal Model Products

CRISPR Products

miRNA for KIAA1217 Gene

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA1217 Gene

Localization for KIAA1217 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA1217 Gene

Cytoplasm.

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 KIAA1217 gene
Compartment Confidence
nucleus 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIAA1217 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with KIAA1217: view

Pathways & Interactions for KIAA1217 Gene

SuperPathways for KIAA1217 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA1217 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0048706 embryonic skeletal system development ISS --
genes like me logo Genes that share ontologies with KIAA1217: view

No data available for Pathways by source and SIGNOR curated interactions for KIAA1217 Gene

Drugs & Compounds for KIAA1217 Gene

No Compound Related Data Available

Transcripts for KIAA1217 Gene

Unigene Clusters for KIAA1217 Gene

KIAA1217:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1217 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - -
SP4: - - - -
SP5: - -
SP6: - -
SP7: - - - - - - - -
SP8: - - - - - -
SP9: - -
SP10: -
SP11: - -
SP12:

ExUns: 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c ^ 25
SP1: - - -
SP2: - - - - - - -
SP3: -
SP4: - - -
SP5: - - - -
SP6: - - - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for KIAA1217 Gene

GeneLoc Exon Structure for
KIAA1217
ECgene alternative splicing isoforms for
KIAA1217

Expression for KIAA1217 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIAA1217 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIAA1217 Gene

This gene is overexpressed in Muscle - Skeletal (x7.5).

Protein differential expression in normal tissues from HIPED for KIAA1217 Gene

This gene is overexpressed in Testis (10.7), Plasma (10.0), Adrenal (9.2), and Pancreas (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KIAA1217 Gene



Protein tissue co-expression partners for KIAA1217 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIAA1217 Gene:

KIAA1217

SOURCE GeneReport for Unigene cluster for KIAA1217 Gene:

Hs.445885

Evidence on tissue expression from TISSUES for KIAA1217 Gene

  • Liver(4.3)
  • Kidney(2.4)
  • Muscle(2.3)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with KIAA1217: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA1217 Gene

Orthologs for KIAA1217 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA1217 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1217 33 34
  • 99.13 (n)
dog
(Canis familiaris)
Mammalia KIAA1217 33 34
  • 85.34 (n)
cow
(Bos Taurus)
Mammalia KIAA1217 33 34
  • 84.67 (n)
mouse
(Mus musculus)
Mammalia Etl4 33 16 34
  • 83.21 (n)
rat
(Rattus norvegicus)
Mammalia Etl4 33
  • 82.37 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA1217 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1217 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1217 33 34
  • 69.7 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 68 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1217 33
  • 62.3 (n)
Str.6301 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.18277 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-285f17.1 33 34
  • 56.56 (n)
si:ch211-207d6.2 34
  • 41 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32809 34
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.15 34
  • 18 (a)
OneToMany
Species where no ortholog for KIAA1217 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for KIAA1217 Gene

ENSEMBL:
Gene Tree for KIAA1217 (if available)
TreeFam:
Gene Tree for KIAA1217 (if available)

Paralogs for KIAA1217 Gene

Paralogs for KIAA1217 Gene

(1) SIMAP similar genes for KIAA1217 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with KIAA1217: view

Variants for KIAA1217 Gene

Sequence variations from dbSNP and Humsavar for KIAA1217 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000006650 -- 23,941,368(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000007763 -- 24,361,165(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000008575 -- 23,903,870(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000012527 -- 24,540,514(+) G/T intron_variant
rs1000014859 -- 23,863,321(+) G/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA1217 Gene

Variant ID Type Subtype PubMed ID
nsv975060 CNV deletion 23825009
nsv955545 CNV deletion 24416366
nsv825306 CNV loss 20364138
nsv819511 CNV gain 19587683
nsv7200 OTHER inversion 18451855
nsv6088 CNV insertion 18451855
nsv6077 CNV deletion 18451855
nsv6065 CNV insertion 18451855
nsv6054 CNV insertion 18451855
nsv550223 CNV loss 21841781
nsv550222 CNV gain 21841781
nsv550219 CNV gain 21841781
nsv520378 CNV loss 19592680
nsv517235 CNV loss 19592680
nsv512152 CNV loss 21212237
nsv476226 CNV novel sequence insertion 20440878
nsv466836 CNV loss 19166990
nsv442572 CNV loss 18776908
nsv442172 CNV gain 18776908
nsv437661 CNV loss 16327808
nsv25425 CNV deletion 16902084
nsv24699 CNV deletion 16902084
nsv1161932 CNV deletion 26073780
nsv1127092 CNV deletion 24896259
nsv1115956 CNV insertion 24896259
nsv1068681 CNV deletion 25765185
nsv1048189 CNV gain+loss 25217958
nsv1043897 CNV gain 25217958
nsv1043744 CNV gain 25217958
nsv1041098 CNV loss 25217958
nsv1037958 CNV gain 25217958
nsv1037512 CNV gain 25217958
nsv1035512 CNV gain 25217958
esv3622644 CNV loss 21293372
esv3622640 CNV loss 21293372
esv3622639 CNV loss 21293372
esv3622638 CNV loss 21293372
esv3622636 CNV gain 21293372
esv3622635 CNV gain 21293372
esv3622634 CNV loss 21293372
esv3622631 CNV gain 21293372
esv3622630 CNV gain 21293372
esv3622629 CNV loss 21293372
esv3622628 CNV loss 21293372
esv3622624 CNV loss 21293372
esv3622623 CNV loss 21293372
esv3622622 CNV loss 21293372
esv3622621 CNV gain 21293372
esv3622620 CNV gain 21293372
esv3622619 CNV loss 21293372
esv3578726 CNV loss 25503493
esv3578719 CNV loss 25503493
esv3576305 CNV gain 25503493
esv3576283 CNV gain 25503493
esv3576227 CNV gain 25503493
esv3546025 CNV deletion 23714750
esv3546021 CNV deletion 23714750
esv3402554 CNV insertion 20981092
esv3399906 CNV insertion 20981092
esv3357848 CNV insertion 20981092
esv3309696 CNV mobile element insertion 20981092
esv3304323 CNV mobile element insertion 20981092
esv3264051 CNV deletion 24192839
esv2763902 CNV gain+loss 21179565
esv2761581 CNV loss 21179565
esv2760146 CNV loss 21179565
esv2760106 CNV loss 21179565
esv2734084 CNV deletion 23290073
esv2734073 CNV deletion 23290073
esv2734062 CNV deletion 23290073
esv2673562 CNV deletion 23128226
esv2673016 CNV deletion 23128226
esv2666654 CNV deletion 23128226
esv2664058 CNV deletion 23128226
esv2658496 CNV deletion 23128226
esv2658343 CNV deletion 23128226
esv2540928 CNV deletion 19546169
esv2531113 CNV deletion 19546169
dgv692n100 CNV loss 25217958
dgv691n100 CNV gain 25217958
dgv690n100 CNV gain 25217958
dgv689n100 CNV loss 25217958
dgv688n100 CNV gain 25217958
dgv197e212 CNV loss 25503493
dgv196e212 CNV gain 25503493
dgv195e212 CNV gain 25503493
dgv194e212 CNV loss 25503493
dgv139n67 CNV gain 20364138
dgv1005n54 CNV gain 21841781

Variation tolerance for KIAA1217 Gene

Residual Variation Intolerance Score: 5.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.49; 85.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIAA1217 Gene

Human Gene Mutation Database (HGMD)
KIAA1217
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA1217

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1217 Gene

Disorders for KIAA1217 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KIAA1217 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
adjustment disorder
  • adjustment disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KIAA1217

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 KIAA1217: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIAA1217 Gene

Publications for KIAA1217 Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. Identification of a novel partner gene, KIAA1217, fused to RET: Functional characterization and inhibitor sensitivity of two isoforms in lung adenocarcinoma. (PMID: 27150058) Lee MS … Choi YL (Oncotarget 2016) 2 3 58
  3. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli ET … Goldstein DB (European journal of human genetics : EJHG 2010) 3 44 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation. (PMID: 19338451) Karasugi T … Ikegawa S (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 44 58

Products for KIAA1217 Gene

Sources for KIAA1217 Gene

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