BUB1B-PAK6

protein-coding

BUB1B-PAK6 readthrough

Gene summary

This gene represents readthrough transcription between the genes BUB1B (mitotic checkpoint serine/threonine-protein kinase BUB1 beta) and PAK6 (serine/threonine-protein kinase PAK 6). The protein encoded by the readthrough transcripts is the same as the product of the downstream gene (PAK6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:4B:2

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chr15:40,218,500-40,264,890

External References & Databases

Ensembl (ENSG00000259288)

NCBI Gene (106821730)

Transcript & Mutation Effects

hg38 • Region Span ~46.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to BUB1B-PAK6 variants in ClinVar

9 Conditions Cataloged

Inborn genetic diseasesTotal: 72

Mosaic variegated aneuploidy syndrome 1Total: 50

not providedTotal: 5

not specifiedTotal: 3

Colorectal cancerTotal: 2

Colorectal cancer;Premature chromatid separation trait;Mosaic variegated aneuploidy syndrome 1Total: 1

Premature chromatid separation traitTotal: 1

Ovarian cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar	1 clinvar	1 clinvar	6
Total	0	0	4	1	1	6

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001128628.3	RefSeq	NP_001122100.1	8	Standard
NM_001128629.3	RefSeq	NP_001122101.1	8	Standard
ENST00000559435.1	Ensembl	ENSP00000457109.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Focal adhesion - Homo sapiens (human)
T cell receptor signaling pathway - Homo sapiens (human)
Renal cell carcinoma - Homo sapiens (human)
ErbB signaling pathway - Homo sapiens (human)
Regulation of actin cytoskeleton - Homo sapiens (human)

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Serine/threonine protein kinase that plays a role in the regulation of gene transcription. The kinase activity is induced by various effectors including AR or MAP2K6/MAPKK6. Phosphorylates the DNA-binding domain of androgen receptor/AR and thereby inhibits AR-mediated transcription. Inhibits also ESR1-mediated transcription. May play a role in cytoskeleton regulation by interacting with IQGAP1. May protect cells from apoptosis through phosphorylation of BAD. {ECO:0000269|PubMed:14573606, ECO:0000269|PubMed:20054820}.;