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Aliases for KIAA0556 Gene

Aliases for KIAA0556 Gene

  • KIAA0556 2 3
  • Protein KIAA0556 3 4
  • Katanin-Interacting Protein 3
  • JBTS26 3
  • Katnip 3

External Ids for KIAA0556 Gene

Previous GeneCards Identifiers for KIAA0556 Gene

  • GC16P027058
  • GC16P027728
  • GC16P027556
  • GC16P027595
  • GC16P025649

Summaries for KIAA0556 Gene

Entrez Gene Summary for KIAA0556 Gene

  • This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]

GeneCards Summary for KIAA0556 Gene

KIAA0556 (KIAA0556) is a Protein Coding gene. Diseases associated with KIAA0556 include Joubert Syndrome 26 and Joubert Syndrome 1.

UniProtKB/Swiss-Prot for KIAA0556 Gene

  • May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex.

Additional gene information for KIAA0556 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0556 Gene

Genomics for KIAA0556 Gene

GeneHancer (GH) Regulatory Elements for KIAA0556 Gene

Promoters and enhancers for KIAA0556 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J027548 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 600.7 -0.1 -87 3.9 ZNF652 SP1 ZFX ELF3 ZNF148 NKRF POLR2A MLLT1 CSDE1 ZSCAN21 KIAA0556 GTF3C1 IL21R-AS1
GH16J027312 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.8 -227.4 -227436 19.8 ZNF652 SP1 ELF3 NKRF POLR2A ZNF121 CEBPG RERE ZNF687 AHR IL4R NSMCE1-DT NSMCE1 GTF3C1 IL21R KIAA0556 GSG1L ENSG00000259940 KDM8 ENSG00000274092
GH16J027690 Enhancer 0.9 Ensembl dbSUPER 13.1 +141.5 141482 2.4 CTCF RAD21 REST SCRT2 SMARCA5 USF1 ZNF707 PRDM4 ZNF189 MAZ IL21R-AS1 KIAA0556 NPIPB8 ENSG00000273553 PIR62239 ENSG00000261329 LOC100128079
GH16J027299 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 5.5 -249.9 -249917 0.9 CREM CREB1 DPF2 ZNF24 IL4R KIAA0556 NSMCE1
GH16J027287 Enhancer 0.6 FANTOM5 dbSUPER 6 -262.1 -262142 0.3 ZMYM3 IL4R KIAA0556 NSMCE1 NSMCE1-DT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIAA0556 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIAA0556 gene promoter:
  • AP-2gamma
  • C/EBPalpha
  • C/EBPbeta
  • CBF(2)
  • CHOP-10
  • COMP1
  • FOXL1
  • NF-Y
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for KIAA0556 Gene

Genomic Locations for KIAA0556 Gene
230,253 bases
Plus strand
230,239 bases
Plus strand

Genomic View for KIAA0556 Gene

Genes around KIAA0556 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0556 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0556 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0556 Gene

Proteins for KIAA0556 Gene

  • Protein details for KIAA0556 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein KIAA0556
    Protein Accession:
    Secondary Accessions:
    • A7E2C2

    Protein attributes for KIAA0556 Gene

    1618 amino acids
    Molecular mass:
    180918 Da
    Quaternary structure:
    • Interacts with microtubules. Interacts with 4 subunits of the katanin complex: KATNA1, KATNAL1, KATNB1 and KATNBL1.
    • Sequence=BAA25482.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for KIAA0556 Gene

Post-translational modifications for KIAA0556 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KIAA0556 Gene

Domains & Families for KIAA0556 Gene

Gene Families for KIAA0556 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for KIAA0556 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA0556: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for KIAA0556 Gene

Function for KIAA0556 Gene

Molecular function for KIAA0556 Gene

UniProtKB/Swiss-Prot Function:
May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex.

Phenotypes From GWAS Catalog for KIAA0556 Gene

genes like me logo Genes that share phenotypes with KIAA0556: view

Human Phenotype Ontology for KIAA0556 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for KIAA0556 Gene

miRTarBase miRNAs that target KIAA0556

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA0556

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA0556 Gene

Localization for KIAA0556 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA0556 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton. Note=When overexpressed, localizes to the cytoplasm where it associates with acetylated alpha-tubulin. {ECO:0000269 PubMed:26714646}.

Subcellular locations from

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 KIAA0556 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
plasma membrane 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIAA0556 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with KIAA0556: view

Pathways & Interactions for KIAA0556 Gene

PathCards logo

SuperPathways for KIAA0556 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA0556 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090660 cerebrospinal fluid circulation IEA --
genes like me logo Genes that share ontologies with KIAA0556: view

No data available for Pathways by source and SIGNOR curated interactions for KIAA0556 Gene

Drugs & Compounds for KIAA0556 Gene

No Compound Related Data Available

Transcripts for KIAA0556 Gene

mRNA/cDNA for KIAA0556 Gene

Unigene Clusters for KIAA0556 Gene

Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA0556

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0556 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - - - - -
SP3: - -
SP4: - - -
SP5: -
SP6: - -

ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30

Relevant External Links for KIAA0556 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KIAA0556 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIAA0556 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KIAA0556 Gene

This gene is overexpressed in Bone (48.4) and Heart (18.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIAA0556 Gene

Protein tissue co-expression partners for KIAA0556 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIAA0556 Gene:


SOURCE GeneReport for Unigene cluster for KIAA0556 Gene:


Evidence on tissue expression from TISSUES for KIAA0556 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with KIAA0556: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA0556 Gene

Orthologs for KIAA0556 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA0556 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KIAA0556 35 34
  • 99.16 (n)
(Canis familiaris)
Mammalia KIAA0556 35 34
  • 83.72 (n)
(Bos Taurus)
Mammalia KIAA0556 35
  • 79 (a)
(Mus musculus)
Mammalia D430042O09Rik 17 35 34
  • 78.63 (n)
(Rattus norvegicus)
Mammalia LOC361646 34
  • 78.37 (n)
(Ornithorhynchus anatinus)
Mammalia KIAA0556 35
  • 64 (a)
(Monodelphis domestica)
Mammalia KIAA0556 35
  • 59 (a)
(Gallus gallus)
Aves KIAA0556 35 34
  • 60.79 (n)
(Anolis carolinensis)
Reptilia KIAA0556 35
  • 49 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0556 34
  • 55.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29814 34
(Danio rerio)
Actinopterygii si:dkey-161j23.7 35
  • 67 (a)
LOC557457 34
  • 53.89 (n)
si:dkey-161j23.6 35
  • 46 (a)
si:dkey-161j23.5 35
  • 33 (a)
Dr.16016 34
(Caenorhabditis elegans)
Secernentea K04F10.2 35 36 34
  • 45.66 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
Species where no ortholog for KIAA0556 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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 KIAA0556 Gene

Gene Tree for KIAA0556 (if available)
Gene Tree for KIAA0556 (if available)
Evolutionary constrained regions (ECRs) for KIAA0556: view image

Paralogs for KIAA0556 Gene

No data available for Paralogs for KIAA0556 Gene

Variants for KIAA0556 Gene

Sequence variations from dbSNP and Humsavar for KIAA0556 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1555497891 pathogenic, Joubert syndrome 26 27,775,055(+) A/ coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs864309712 likely-pathogenic, pathogenic, Joubert syndrome, Joubert syndrome 26 27,749,634(+) C/T coding_sequence_variant, stop_gained
rs1000021349 -- 27,593,446(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000027366 -- 27,700,508(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000074470 -- 27,600,065(+) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA0556 Gene

Variant ID Type Subtype PubMed ID
dgv1334n106 CNV tandem duplication 24896259
dgv2829n100 CNV gain 25217958
esv1009779 CNV insertion 20482838
esv1205043 CNV insertion 17803354
esv2751555 CNV gain 17911159
esv3638326 CNV loss 21293372
esv3638328 CNV loss 21293372
nsv1059454 CNV gain 25217958
nsv1076799 CNV insertion 25765185
nsv1119451 CNV insertion 24896259
nsv1123026 CNV deletion 24896259
nsv1134517 CNV deletion 24896259
nsv1148152 CNV insertion 26484159
nsv1774 CNV insertion 18451855
nsv476050 CNV novel sequence insertion 20440878
nsv477763 CNV novel sequence insertion 20440878

Variation tolerance for KIAA0556 Gene

Residual Variation Intolerance Score: 77.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.88; 79.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIAA0556 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0556 Gene

Disorders for KIAA0556 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KIAA0556 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 26
  • jbts26
joubert syndrome 1
  • jbts1
joubert syndrome 8
  • jbts8
- elite association - COSMIC cancer census association via MalaCards


  • Joubert syndrome 26 (JBTS26) [MIM:616784]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS26 inheritance is autosomal recessive. {ECO:0000269 PubMed:26714646}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KIAA0556

genes like me logo Genes that share disorders with KIAA0556: view

No data available for Genatlas for KIAA0556 Gene

Publications for KIAA0556 Gene

  1. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. (PMID: 26714646) Sanders AA … Blacque OE (Genome biology 2015) 2 3 4 58
  2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  3. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 58
  4. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  5. Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. (PMID: 27245168) Roosing S … Gleeson JG (Human genetics 2016) 3 58

Products for KIAA0556 Gene

Sources for KIAA0556 Gene

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