GCSAM

Chr 3

germinal center associated signaling and motility

Also known as: GCAT2, GCET2, HGAL

NCBI Gene: 257144 ENSG00000174500 UniProt: Q8N6F7

The protein regulates lymphocyte motility through negative regulation and mediates migration-inhibitory effects of IL6, while also serving as a positive regulator of RhoA signaling and B-cell receptor signaling through SYK kinase activation. Based on the available data, no well-established human disease associations have been documented for mutations in this gene. The gene shows low constraint against loss-of-function variants (pLI 0.06, LOEUF 1.0), suggesting tolerance to such mutations in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.00

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)