U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    HAUS2 HAUS augmin like complex subunit 2 [ Homo sapiens (human) ]

    Gene ID: 55142, updated on 27-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    HAUS2provided by HGNC
    Official Full Name
    HAUS augmin like complex subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:25530
    See related
    Ensembl:ENSG00000137814 MIM:613429; AllianceGenome:HGNC:25530
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CEP27; C15orf25; HsT17025
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 7.1), brain (RPKM 3.8) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See HAUS2 in Genome Data Viewer
    Location:
    15q15.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (42548838..42569994)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (40354888..40377004)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (42841036..42862192)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 106 Neighboring gene RNA, U6 small nuclear 188, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:42749529-42750361 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:42750362-42751193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9303 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:42787505-42788048 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:42788049-42788592 Neighboring gene synaptosome associated protein 23 Neighboring gene MPRA-validated peak2311 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9304 Neighboring gene leucine rich repeat containing 57 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9305 Neighboring gene eukaryotic translation initiation factor 4E binding protein 2 pseudogene 2 Neighboring gene MYL12B pseudogene 1 Neighboring gene StAR related lipid transfer domain containing 9

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Reconstitution of the augmin complex provides insights into its architecture and function. Hsia KC, et al. Nat Cell Biol, 2014 Sep. PMID 25173975, Free PMC Article
    2. The HAUS Complex Is a Key Regulator of Non-centrosomal Microtubule Organization during Neuronal Development. Cunha-Ferreira I, et al. Cell Rep, 2018 Jul 24. PMID 30044976, Free PMC Article
    3. The microtubule-associated protein EML3 regulates mitotic spindle assembly by recruiting the Augmin complex to spindle microtubules. Luo J, et al. J Biol Chem, 2019 Apr 5. PMID 30723163, Free PMC Article
    4. HAUS, the 8-subunit human Augmin complex, regulates centrosome and spindle integrity. Lawo S, et al. Curr Biol, 2009 May 26. PMID 19427217
    5. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Dgany O, et al. Am J Hum Genet, 2002 Dec. PMID 12434312, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

    Go to the top of the page Help

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ10460

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in centrosome cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centrosome cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in centrosome cycle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in microtubule nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of microtubule nucleation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in spindle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spindle assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of HAUS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of HAUS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of HAUS complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in mitotic spindle microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitotic spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    HAUS augmin-like complex subunit 2
    Names
    centrosomal protein 27kDa
    centrosomal protein of 27 kDa

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001130447.2 → NP_001123919.1  HAUS augmin-like complex subunit 2 isoform 2

      See identical proteins and their annotated locations for NP_001123919.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate, in-frame, segment in the CDS, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AC018362, AI368236, DA923763, DB450370
      Consensus CDS
      CCDS45247.1
      UniProtKB/Swiss-Prot
      Q9NVX0
      Related
      ENSP00000456578.1, ENST00000568876.5
      Conserved Domains (1) summary
      pfam15003
      Location:8 → 159
      HAUS2; HAUS augmin-like complex subunit 2

    2. NM_001323629.2 → NP_001310558.1  HAUS augmin-like complex subunit 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC018362
      Consensus CDS
      CCDS81867.1
      UniProtKB/TrEMBL
      H3BP16
      Related
      ENSP00000455104.1, ENST00000564279.5

    3. NM_001323630.2 → NP_001310559.1  HAUS augmin-like complex subunit 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC018362
      Conserved Domains (1) summary
      pfam15003
      Location:1 → 59
      HAUS2; HAUS augmin-like complex subunit 2

    4. NM_001323631.2 → NP_001310560.1  HAUS augmin-like complex subunit 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC018362
      Conserved Domains (1) summary
      pfam15003
      Location:1 → 96
      HAUS2; HAUS augmin-like complex subunit 2

    5. NM_001323632.2 → NP_001310561.1  HAUS augmin-like complex subunit 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC018362
      Conserved Domains (1) summary
      pfam15003
      Location:1 → 96
      HAUS2; HAUS augmin-like complex subunit 2

    6. NM_018097.3 → NP_060567.1  HAUS augmin-like complex subunit 2 isoform 1

      See identical proteins and their annotated locations for NP_060567.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AC018362, AI368236, BC010903
      Consensus CDS
      CCDS10090.1
      UniProtKB/Swiss-Prot
      C9JH36, Q9H9B3, Q9NVX0
      Related
      ENSP00000260372.3, ENST00000260372.8
      Conserved Domains (1) summary
      pfam15003
      Location:8 → 190
      HAUS2; HAUS augmin-like complex subunit 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      42548838..42569994
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022397.2 → XP_016877886.1  HAUS augmin-like complex subunit 2 isoform X1

      Conserved Domains (1) summary
      pfam15003
      Location:1 → 96
      HAUS2; HAUS augmin-like complex subunit 2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      40354888..40377004
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378357.1 → XP_054234332.1  HAUS augmin-like complex subunit 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVX0.1 GenPept UniProtKB/Swiss-Prot:Q9NVX0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous