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Aliases for HAUS2 Gene

Aliases for HAUS2 Gene

  • HAUS Augmin Like Complex Subunit 2 2 3 5
  • Centrosomal Protein Of 27 KDa 3 4
  • Centrosomal Protein 27kDa 2 3
  • C15orf25 3 4
  • CEP27 3 4
  • Chromosome 15 Open Reading Frame 25 2
  • HAUS Augmin-Like Complex Subunit 2 3
  • HsT17025 3

External Ids for HAUS2 Gene

Previous HGNC Symbols for HAUS2 Gene

  • C15orf25
  • CEP27

Previous GeneCards Identifiers for HAUS2 Gene

  • GC15P040630
  • GC15P042841
  • GC15P019688

Summaries for HAUS2 Gene

Entrez Gene Summary for HAUS2 Gene

  • The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. [provided by RefSeq, Apr 2016]

GeneCards Summary for HAUS2 Gene

HAUS2 (HAUS Augmin Like Complex Subunit 2) is a Protein Coding gene. Diseases associated with HAUS2 include Joubert Syndrome 1. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition.

UniProtKB/Swiss-Prot for HAUS2 Gene

  • Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.

Additional gene information for HAUS2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAUS2 Gene

Genomics for HAUS2 Gene

GeneHancer (GH) Regulatory Elements for HAUS2 Gene

Promoters and enhancers for HAUS2 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
GH15I042547 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 207 2.7 HDGF FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B LRRC57 HAUS2 GANC LOC105370795 VPS39 CDAN1 ADAL ENSG00000261822
GH15I042493 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.5 -53.5 -53505 3.7 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 SLC30A9 SNAP23 LRRC57 GANC HAUS2 LOC105370795 VPS39 CDAN1 TMEM87A ZSCAN29 ADAL
GH15I042490 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.7 -57.6 -57574 2.5 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF106 SNAP23 LRRC57 TMEM87A GANC HAUS2 RPS3AP47 ENSG00000261684
GH15I042581 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 15.7 +32.9 32929 1.3 RB1 ARID4B DMAP1 ZNF48 ZSCAN9 RAD21 YY1 ZNF335 EGR1 RCOR1 GC15M042579 GC15M042581 EIF4EBP2P2 LRRC57 HAUS2 CAPN3 STARD9 PIR61026
GH15I042497 Enhancer 1.3 Ensembl ENCODE dbSUPER 17.5 -49.2 -49203 4.3 HDGF PKNOX1 ARNT FEZF1 GTF3C2 TCF12 ATF7 FOS NCOA1 MEF2D TUBGCP4 LRRC57 HAUS2 ENSG00000260814 MGA LCMT2 MAPKBP1 CDAN1 GANC TMEM87A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HAUS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HAUS2 gene promoter:

Genomic Locations for HAUS2 Gene

Genomic Locations for HAUS2 Gene
chr15:42,548,810-42,569,994
(GRCh38/hg38)
Size:
21,185 bases
Orientation:
Plus strand
chr15:42,841,008-42,862,192
(GRCh37/hg19)

Genomic View for HAUS2 Gene

Genes around HAUS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAUS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAUS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAUS2 Gene

Proteins for HAUS2 Gene

  • Protein details for HAUS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVX0-HAUS2_HUMAN
    Recommended name:
    HAUS augmin-like complex subunit 2
    Protein Accession:
    Q9NVX0
    Secondary Accessions:
    • C9JH36
    • Q9H9B3

    Protein attributes for HAUS2 Gene

    Size:
    235 amino acids
    Molecular mass:
    26933 Da
    Quaternary structure:
    • Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly.

    Alternative splice isoforms for HAUS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HAUS2 Gene

Post-translational modifications for HAUS2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for HAUS2 Gene

Domains & Families for HAUS2 Gene

Gene Families for HAUS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HAUS2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HAUS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NVX0

UniProtKB/Swiss-Prot:

HAUS2_HUMAN :
  • Belongs to the HAUS2 family.
Family:
  • Belongs to the HAUS2 family.
genes like me logo Genes that share domains with HAUS2: view

Function for HAUS2 Gene

Molecular function for HAUS2 Gene

UniProtKB/Swiss-Prot Function:
Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.

Phenotypes From GWAS Catalog for HAUS2 Gene

Gene Ontology (GO) - Molecular Function for HAUS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 19369198
genes like me logo Genes that share ontologies with HAUS2: view
genes like me logo Genes that share phenotypes with HAUS2: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HAUS2 Gene

Localization for HAUS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAUS2 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. {ECO:0000269 PubMed:19369198, ECO:0000269 PubMed:19427217}.

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 HAUS2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
golgi apparatus 2
extracellular 1
peroxisome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for HAUS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 14654843
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HAUS2: view

Pathways & Interactions for HAUS2 Gene

genes like me logo Genes that share pathways with HAUS2: view

Gene Ontology (GO) - Biological Process for HAUS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0007049 cell cycle IEA --
GO:0007098 centrosome cycle IEA,IMP 19427217
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0031023 microtubule organizing center organization IEA --
genes like me logo Genes that share ontologies with HAUS2: view

No data available for SIGNOR curated interactions for HAUS2 Gene

Drugs & Compounds for HAUS2 Gene

No Compound Related Data Available

Transcripts for HAUS2 Gene

Unigene Clusters for HAUS2 Gene

HAUS augmin-like complex, subunit 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HAUS2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: -
SP5: -

Relevant External Links for HAUS2 Gene

GeneLoc Exon Structure for
HAUS2
ECgene alternative splicing isoforms for
HAUS2

Expression for HAUS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HAUS2 Gene

Protein differential expression in normal tissues from HIPED for HAUS2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (52.0), Fetal ovary (6.6), and CD8 Tcells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HAUS2 Gene



Protein tissue co-expression partners for HAUS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of HAUS2 Gene:

HAUS2

SOURCE GeneReport for Unigene cluster for HAUS2 Gene:

Hs.14347

Evidence on tissue expression from TISSUES for HAUS2 Gene

  • Nervous system(4.2)
  • Blood(4)
genes like me logo Genes that share expression patterns with HAUS2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HAUS2 Gene

Orthologs for HAUS2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HAUS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAUS2 33 34
  • 100 (n)
cow
(Bos Taurus)
Mammalia HAUS2 33
  • 89.65 (n)
CEP27 34
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAUS2 33 34
  • 88.94 (n)
rat
(Rattus norvegicus)
Mammalia LOC100912076 33
  • 81.62 (n)
mouse
(Mus musculus)
Mammalia Haus2 33 16 34
  • 81.34 (n)
oppossum
(Monodelphis domestica)
Mammalia HAUS2 34
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAUS2 34
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAUS2 33 34
  • 61.71 (n)
lizard
(Anolis carolinensis)
Reptilia HAUS2 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia haus2 33
  • 57.07 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-170l10.1 33
  • 49.21 (n)
HAUS2 34
  • 30 (a)
OneToOne
Species where no ortholog for HAUS2 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)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for HAUS2 Gene

ENSEMBL:
Gene Tree for HAUS2 (if available)
TreeFam:
Gene Tree for HAUS2 (if available)

Paralogs for HAUS2 Gene

No data available for Paralogs for HAUS2 Gene

Variants for HAUS2 Gene

Sequence variations from dbSNP and Humsavar for HAUS2 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000033769 -- 42,547,765(+) A/C upstream_transcript_variant
rs1000085531 -- 42,548,183(+) TTGTTGTTG/TTGTTG upstream_transcript_variant
rs1000389007 -- 42,554,227(+) C/T intron_variant
rs1000690049 -- 42,565,399(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000781138 -- 42,563,947(+) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HAUS2 Gene

Variant ID Type Subtype PubMed ID
esv1090131 CNV insertion 17803354
esv2677430 CNV deletion 23128226
esv2749624 CNV deletion 23290073
esv3636275 CNV loss 21293372
esv3892679 CNV loss 25118596
nsv513429 CNV insertion 21212237
nsv528725 CNV gain 19592680
nsv958012 CNV insertion 24416366

Variation tolerance for HAUS2 Gene

Residual Variation Intolerance Score: 66.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.24; 40.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HAUS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAUS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAUS2 Gene

Disorders for HAUS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HAUS2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards
Search HAUS2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HAUS2

genes like me logo Genes that share disorders with HAUS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HAUS2 Gene

Publications for HAUS2 Gene

  1. HAUS, the 8-subunit human Augmin complex, regulates centrosome and spindle integrity. (PMID: 19427217) Lawo S … Pelletier L (Current biology : CB 2009) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 58
  3. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen JS … Mann M (Nature 2003) 2 3 4 58
  4. The augmin complex plays a critical role in spindle microtubule generation for mitotic progression and cytokinesis in human cells. (PMID: 19369198) Uehara R … Goshima G (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for HAUS2 Gene

Sources for HAUS2 Gene

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