HAUS2

HAUS augmin like complex subunit 2, the group of HAUS augmin like complex

Basic information

Region (hg38): 15:42548828-42569994

Previous symbols: [ "C15orf25", "CEP27" ]

Links

ENSG00000137814 ∙ NCBI:55142 ∙ OMIM:613429 ∙ HGNC:25530 ∙ Uniprot:Q9NVX0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HAUS2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HAUS2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	1	0

Variants in HAUS2

This is a list of pathogenic ClinVar variants found in the HAUS2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
15-42548879-G-T		not specified	Uncertain significance (Dec 03, 2024)
15-42548898-C-A		not specified	Uncertain significance (Jan 26, 2025)
15-42548906-G-A		not specified	Uncertain significance (Feb 23, 2023)
15-42548961-A-G		not specified	Uncertain significance (Jul 25, 2023)
15-42558203-G-C		not specified	Uncertain significance (Feb 14, 2023)
15-42558219-A-C		not specified	Uncertain significance (Jan 02, 2025)
15-42559352-T-C		not specified	Uncertain significance (Jul 14, 2021)
15-42559353-T-G		not specified	Uncertain significance (Jan 04, 2024)
15-42559357-C-T		not specified	Uncertain significance (Sep 20, 2023)
15-42559384-G-A		not specified	Uncertain significance (Dec 22, 2023)
15-42559397-C-T		not specified	Uncertain significance (Nov 08, 2024)
15-42559400-T-C		not specified	Likely benign (Dec 14, 2021)
15-42559406-T-C		not specified	Uncertain significance (Jul 30, 2024)
15-42561296-A-T		not specified	Uncertain significance (Oct 29, 2024)
15-42561298-G-T		not specified	Uncertain significance (Apr 10, 2023)
15-42561318-T-C		not specified	Uncertain significance (Mar 28, 2023)
15-42563840-G-A		not specified	Uncertain significance (Jan 23, 2023)
15-42566675-G-C		not specified	Uncertain significance (Aug 17, 2021)
15-42566679-C-T		not specified	Uncertain significance (Oct 26, 2021)
15-42566680-G-A		not specified	Uncertain significance (Jan 31, 2024)
15-42566701-C-T		not specified	Uncertain significance (Feb 22, 2025)
15-42566745-A-C		not specified	Uncertain significance (Aug 14, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HAUS2	protein_coding	protein_coding	ENST00000260372	6	21185

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000338	0.359	125718	0	15	125733	0.0000597

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.137	115	119	0.965	0.00000537	1552
Missense in Polyphen		38	29.505	1.2879		441
Synonymous	-0.907	49	41.6	1.18	0.00000192	428
Loss of Function	0.373	9	10.3	0.874	4.33e-7	136

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000625	0.0000625
Ashkenazi Jewish	0.00	0.00
East Asian	0.000223	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000178	0.0000176
Middle Eastern	0.000223	0.000217
South Asian	0.000253	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}.
• Pathway: Regulation of PLK1 Activity at G2/M Transition;Recruitment of mitotic centrosome proteins and complexes;Loss of Nlp from mitotic centrosomes;Loss of proteins required for interphase microtubule organization from the centrosome;Centrosome maturation;AURKA Activation by TPX2;G2/M Transition;Mitotic G2-G2/M phases;Recruitment of NuMA to mitotic centrosomes;Mitotic Prometaphase;M Phase;Cell Cycle;Cell Cycle, Mitotic;Anchoring of the basal body to the plasma membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.852
• rvis_EVS: 0.7
• rvis_percentile_EVS: 85.42

Haploinsufficiency Scores

• pHI: 0.138
• hipred: N
• hipred_score: 0.257
• ghis: 0.522

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.734

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Haus2

Gene ontology

• Biological process: G2/M transition of mitotic cell cycle;centrosome cycle;regulation of G2/M transition of mitotic cell cycle;spindle assembly;cell division;ciliary basal body-plasma membrane docking
• Cellular component: centrosome;cytosol;spindle microtubule;HAUS complex
• Molecular function: molecular_function;protein binding