Aliases for KIAA1109 Gene
Aliases for KIAA1109 Gene
External Ids for KIAA1109 Gene
- HGNC: 26953
- Entrez Gene: 84162
- Ensembl: ENSG00000138688
- OMIM: 611565
- UniProtKB: Q2LD37
Previous GeneCards Identifiers for KIAA1109 Gene
- GC04P124135
- GC04P123447
- GC04P123564
- GC04P123630
- GC04P123528
- GC04P123431
- GC04P123311
- GC04P123073
- GC04P118818
Summaries for KIAA1109 Gene
-
This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]
GeneCards Summary for KIAA1109 Gene
KIAA1109 (KIAA1109) is a Protein Coding gene. Diseases associated with KIAA1109 include Alkuraya-Kucinskas Syndrome and Connective Tissue Cancer.
Additional gene information for KIAA1109 Gene
- Monarch Initiative
- Search for KIAA1109 at DataMed
- Search for KIAA1109 at HumanCyc
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1109 Gene
Genomics for KIAA1109 Gene
GeneHancer (GH) Regulatory Elements for KIAA1109 Gene
Promoters and enhancers for KIAA1109 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH04I122150 | Promoter/Enhancer | 2 | FANTOM5 Ensembl ENCODE dbSUPER | 571.5 | -0.3 | -330 | 3.7 | HDGF PKNOX1 ATF1 SMAD1 ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B | KIAA1109 ENSG00000273007 BBS7 IL2 IL21 RN7SL335P | |
| GH04I122170 | Promoter | 0.5 | EPDnew | 550.4 | +18.3 | 18264 | 0.1 | KIAA1109 TRPC3 GC04P122268 | ||
| GH04I122731 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 12.3 | +580.9 | 580870 | 2.9 | HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 POLR2B ZNF143 FOS | CETN4P BBS12 EXOSC9 SPATA5 KIAA1109 BBS7 ENSG00000273007 TRPC3 LOC727709 | |
| GH04I122117 | Enhancer | 0.4 | ENCODE | 13 | -34.4 | -34402 | 0.2 | FOSL1 ZNF512 | KIAA1109 RN7SL335P | |
| GH04I122860 | Enhancer | 0.3 | dbSUPER | 15.8 | +710.4 | 710445 | 3.7 | ZNF585B | KIAA1109 BBS7 FGF2 NUDT6 ENSG00000273007 RPS26P23 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around KIAA1109 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for KIAA1109 Gene
Genomic Locations for KIAA1109 Gene
- chr4:122,152,333-122,362,759
- (GRCh38/hg38)
- Size:
- 210,427 bases
- Orientation:
- Plus strand
- chr4:123,073,488-123,283,914
- (GRCh37/hg19)
Genomic View for KIAA1109 Gene
Genes around KIAA1109 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q27 by Ensembl
- 4q27 by Entrez Gene
- 4q27 by HGNC
KIAA1109 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KIAA1109 Gene
Proteins for KIAA1109 Gene
-
Protein details for KIAA1109 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q2LD37-K1109_HUMAN
- Recommended name:
- Uncharacterized protein KIAA1109
- Protein Accession:
- Q2LD37
- Q4W598
- Q5CZA9
- Q6ZS70
- Q6ZV75
- Q86XA5
- Q8WVD8
- Q9H742
- Q9NT48
- Q9NTC3
- Q9NTI4
- Q9P2H6
- Q9UPP3
Protein attributes for KIAA1109 Gene
- Size:
- 5005 amino acids
- Molecular mass:
- 555482 Da
- Quaternary structure:
- No Data Available
- Miscellaneous:
-
- KIAA1109 is mapped in the genomic region associated with susceptibility to celiac disease (CELIAC6).
- SequenceCaution:
-
- Sequence=AAH18094.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH45783.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAI08275.1; Type=Erroneous termination; Positions=4807; Note=Translated as Glu.; Evidence={ECO:0000305}; Sequence=BAB15057.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC85988.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC87084.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
Protein Expression for KIAA1109 Gene
Post-translational modifications for KIAA1109 Gene
No Post-translational modifications
Other Protein References for KIAA1109 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for KIAA1109
- Invitrogen Antibodies for KIAA1109
- antibodies-online: Search results for available FSA related products ranked by validation data
- Search GeneTex for Antibodies for KIAA1109
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KIAA1109
- Origene Custom Protein Services for KIAA1109
- antibodies-online: Search results for available FSA related products ranked by validation data
- Search GeneTex for Proteins for KIAA1109
Assay Products
- antibodies-online: Search results for 6 available FSA Elisa Kits ranked by validation data
- Compare Top FSA Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for KIAA1109 Gene
Domains & Families for KIAA1109 Gene
Gene Families for KIAA1109 Gene
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for KIAA1109 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KIAA1109 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for KIAA1109 Gene
Function for KIAA1109 Gene
Phenotypes From GWAS Catalog for KIAA1109 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 20195357 |
Phenotypes for KIAA1109 Gene
- MGI mutant phenotypes for KIAA1109:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for KIAA1109:
Animal Models for KIAA1109 Gene
- MGI Knock Outs for KIAA1109:
-
- 4932438A13Rik tm1b(EUCOMM)Hmgu
Animal Model Products
-
Taconic Biosciences Mouse Models for KIAA1109
- Cyagen custom Knockout/knockin (KOKI) mouse models for KIAA1109
-
-
ViGene Biosciences lentiviral particle packaged cDNA for KIAA1109 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KIAA1109 gene
- Search ViGene Biosciences for KIAA1109
CRISPR Products
- Browse CRISPR knockouts for KIAA1109
- genomics-online: gRNA clones - Search results for available FSA gene related products
- Applied Biological Materials CRISPR for KIAA1109
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KIAA1109
- GenScript: Design CRISPR guide RNA sequences for KIAA1109
miRNA for KIAA1109 Gene
- miRTarBase miRNAs that target KIAA1109
-
- hsa-mir-335-5p (MIRT018363)
- hsa-mir-615-3p (MIRT039681)
- hsa-mir-484 (MIRT041900)
- hsa-mir-25-3p (MIRT163985)
- hsa-mir-32-5p (MIRT163987)
- hsa-mir-92a-3p (MIRT163988)
- hsa-mir-219a-2-3p (MIRT163993)
- hsa-mir-363-3p (MIRT163994)
- hsa-mir-367-3p (MIRT163995)
- hsa-mir-410-3p (MIRT163998)
- hsa-mir-497-3p (MIRT163999)
- hsa-mir-92b-3p (MIRT164002)
- hsa-mir-873-5p (MIRT164004)
- hsa-mir-4528 (MIRT164012)
- hsa-mir-5589-3p (MIRT164014)
- hsa-mir-190a-3p (MIRT502158)
- hsa-mir-340-5p (MIRT502159)
- hsa-mir-4722-5p (MIRT502160)
- hsa-mir-1286 (MIRT502161)
- hsa-mir-944 (MIRT502162)
miRNA Products
- Search ViGene Biosciences for KIAA1109
Inhibitory RNA Products
- Origene shrna and RNAi products in human, mouse, rat for KIAA1109
- Browse OriGene Inhibitory RNA Products For KIAA1109
- genomics-online: shRNA clones - Search results for available FSA gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KIAA1109 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for KIAA1109
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KIAA1109
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available FSA gene related products
- orf clones - Search results for available FSA gene related products
- Applied Biological Materials Clones for KIAA1109
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KIAA1109
-
ViGene Biosciences adenoviral particle packaged cDNA for KIAA1109 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for KIAA1109 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KIAA1109 gene
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KIAA1109 Gene
Localization for KIAA1109 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KIAA1109 Gene
- Membrane; Single-pass membrane protein.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
- Centrosome (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | NAS | 17190194 |
| GO:0016020 | membrane | NAS | 16632497 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for KIAA1109 Gene
No Data Available
Interacting Proteins for KIAA1109 Gene
Selected Interacting proteins:
ENSP00000264501
Q2LD37-K1109_HUMAN
for KIAA1109 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001558 | regulation of cell growth | NAS | 17190194 |
| GO:0030856 | regulation of epithelial cell differentiation | NAS | 17190194 |
No data available for Pathways by source and SIGNOR curated interactions for KIAA1109 Gene
Transcripts for KIAA1109 Gene
mRNA/cDNA for KIAA1109 Gene
- (20) REFSEQ mRNAs :
- (20) Additional mRNA sequences :
- (170) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
- Browse CRISPR knockouts for KIAA1109
- genomics-online: gRNA clones - Search results for available FSA gene related products
- Applied Biological Materials CRISPR for KIAA1109
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KIAA1109
- GenScript: Design CRISPR guide RNA sequences for KIAA1109
miRNA Products
- Search ViGene Biosciences for KIAA1109
Inhibitory RNA Products
- Origene shrna and RNAi products in human, mouse, rat for KIAA1109
- Browse OriGene Inhibitory RNA Products For KIAA1109
- genomics-online: shRNA clones - Search results for available FSA gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KIAA1109 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for KIAA1109
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KIAA1109
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available FSA gene related products
- orf clones - Search results for available FSA gene related products
- Applied Biological Materials Clones for KIAA1109
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| ExUns: | 24 | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | · | 32c | ^ | 33 | ^ | 34 | ^ | 35a | · | 35b | ^ | 36a | · | 36b | ^ | 37a | · | 37b | ^ | 38a | · | 38b | ^ | 39 | ^ | 40a | · | 40b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
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| SP8: |
| ExUns: | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ | 46a | · | 46b | ^ | 47 | ^ | 48 | ^ | 49 | ^ | 50a | · | 50b | ^ | 51 | ^ | 52 | ^ | 53 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP8: |
Expression for KIAA1109 Gene
This gene is overexpressed in Heart (20.9), Urine (15.2), Cervix (8.6), Ovary (7.3), and Retina (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KIAA1109 Gene
NURSA nuclear receptor signaling pathways regulating expression of KIAA1109 Gene:
KIAA1109SOURCE GeneReport for Unigene cluster for KIAA1109 Gene:
Hs.408142mRNA Expression by UniProt/SwissProt for KIAA1109 Gene:
Q2LD37-K1109_HUMAN
Tissue specificity:
Highly expressed in testis and ovary. Weakly or not expressed in other tissues.
Evidence on tissue expression from TISSUES for KIAA1109 Gene
- Nervous system(4.8)
- Blood(4.4)
- Intestine(4.4)
- Skin(4.4)
- Liver(4.3)
- Lung(2.5)
- Spleen(2.3)
Primer Products
-
OriGene qPCR primer pairs for KIAA1109
- genomics-online: primer clones - Search results for available FSA gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA1109 Gene
Orthologs for KIAA1109 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KIAA1109 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | KIAA1109 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | KIAA1109 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | KIAA1109 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | 4932438A13Rik 33 16 34 |
|
||
| chicken (Gallus gallus) |
Aves | KIAA1109 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | KIAA1109 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100037856 33 |
|
||
| Str.90 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.12375 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | si:ch211-233a24.2 33 34 |
|
||
| -- 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9215 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | tweek 33 34 |
|
||
| CG4841 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007960 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | Y47G6A.29 34 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CSF1 34 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5084 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.11982 33 |
|
- Species where no ortholog for KIAA1109 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- rat (Rattus norvegicus)
- 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)
Paralogs for KIAA1109 Gene
No data available for Paralogs for KIAA1109 Gene
Variants for KIAA1109 Gene
| SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1051597475 | pathogenic, ALKURAYA-KUCINSKAS SYNDROME | 122,226,815(+) | C/T | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs730882245 | likely-pathogenic, pathogenic, Dandy-Walker malformation, Flexed deformity, Hydrocephalus, Micrognathia, Pleural effusion, Talipes equinovarus, ALKURAYA-KUCINSKAS SYNDROME | 122,207,168(+) | T/A | coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, stop_gained, upstream_transcript_variant | |
| rs770791100 | pathogenic, ALKURAYA-KUCINSKAS SYNDROME | 122,239,668(+) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs775516790 | pathogenic, ALKURAYA-KUCINSKAS SYNDROME | 122,238,125(+) | AAAA/AAA | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
| rs886041465 | pathogenic, not provided | 122,192,324(+) | A/AA | coding_sequence_variant, frameshift, genic_upstream_transcript_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5380n100 | CNV | gain | 25217958 |
| esv3602018 | CNV | gain | 21293372 |
| esv3602022 | CNV | gain | 21293372 |
| esv3894021 | CNV | loss | 25118596 |
| nsv4496 | CNV | insertion | 18451855 |
| nsv830045 | CNV | loss | 17160897 |
| nsv997539 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
0.0241% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.59;
86.16% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KIAA1109 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1109 Gene
Disorders for KIAA1109 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alkuraya-kucinskas syndrome |
|
|
| connective tissue cancer |
|
|
| posterior uveitis |
|
|
| dentin caries |
|
|
Search KIAA1109 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KIAA1109
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for KIAA1109 Gene
Publications for KIAA1109 Gene
- A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. (PMID: 17558408) van Heel DA … Wijmenga C (Nature genetics 2007) 3 4 44 58
- KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. (PMID: 29290337) Gueneau L … Reymond A (American journal of human genetics 2018) 2 3 58
- Multiple common variants for celiac disease influencing immune gene expression. (PMID: 20190752) Dubois PC … van Heel DA (Nature genetics 2010) 3 44 58
- Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance. (PMID: 20553587) Hollis-Moffatt JE … Merriman TR (Arthritis research & therapy 2010) 3 44 58
- Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PMID: 20453842) Stahl EA … Plenge RM (Nature genetics 2010) 3 44 58
Products for KIAA1109 Gene
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Sources for KIAA1109 Gene
- (1) GeneCards
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- (34) PanEnsembl
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- (39) Pseudogene
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- (53) IMGT
- (54) Leiden
- (55) miRBase
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- (58) PubMed
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- (63) Novus Biologicals
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- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
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- (72) neXtProt
- (73) Reactome
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- (82) Invitrogen
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