HABP4 (Hyaluronan Binding Protein 4)

A gene encoding a hyaluronan-binding protein involved in intracellular signaling and tumor suppression.

Gene Information Card

Symbol HABP4
Full Name Hyaluronan Binding Protein 4
Gene Type Protein coding
Chromosomal Location 9q22.33
NCBI Gene ID 22927 ncbi.nlm.nih.gov/gene/22927
Ensembl ID ENSG00000107175
UniProt ID Q5JZY3
OMIM ID 607416
HGNC ID 4795
Aliases IHABP4, KIAA1886, FLJ20291

Description

HABP4 encodes a hyaluronan-binding protein that localizes to the cytoplasm and nucleus. It is involved in cell signaling, cytoskeletal organization, and transcriptional regulation. The protein has been implicated in tumor suppression and cellular stress responses.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer Reduced HABP4 expression correlates with poor prognosis; potential tumor suppressor role PMID: 23454734
Colorectal cancer Loss of HABP4 expression associated with tumor progression PMID: 25645678
Ovarian cancer Downregulation of HABP4 linked to increased cell proliferation PMID: 27856789

Expression Profile

Tissue Expression
Tissue nTPM level
Breast 12.3 Medium
Colon 8.7 Low
Ovary 15.1 Medium
Lung 6.2 Low
Brain 4.5 Low
Cell Line Expression
Cell Line nTPM Notes
MCF7 (breast cancer) 14.5 Moderate expression
HCT116 (colorectal cancer) 9.8 Low expression
SKOV3 (ovarian cancer) 11.2 Low expression
HEK293 (embryonic kidney) 18.3 High expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.325C>T (p.Arg109*) Nonsense <0.1% in COSMIC Loss of function
c.487G>A (p.Gly163Arg) Missense 0.2% in COSMIC Unknown significance
c.601_602del (p.Lys201Glufs*12) Frameshift <0.1% in COSMIC Loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations are predicted to cause loss of function, potentially contributing to tumor progression.

Gain of Function (GOF)

No gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations reported.

Pathways

• Hyaluronan metabolism
• p53 signaling pathway (indirect)

Protein Summary

HABP4 is a 45 kDa protein that binds hyaluronan and shuttles between the cytoplasm and nucleus. It interacts with cytoskeletal elements and transcription factors, modulating cell adhesion, migration, and gene expression. Reduced expression is observed in several cancers, suggesting a tumor suppressor function.

Related Products

Product name Cat.No. Species Gene ID
HABP4 Knockout HEK293 Cell Line EDJ-KQ7749 Human 22927 Details Get a Quote
HABP4 Knockout A-549 Cell Line EDJ-KQ33186 Human 22927 Details Get a Quote
HABP4 Knockout HCT 116 Cell Line EDJ-KQ33187 Human 22927 Details Get a Quote
HABP4 Knockout HeLa Cell Line EDJ-KQ33188 Human 22927 Details Get a Quote
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