LRRC74A: Leucine-Rich Repeat-Containing Protein 74A

A poorly characterized leucine-rich repeat protein with potential roles in ciliary function and cancer, based on genomic and transcriptomic data.

Gene Information Card

Symbol LRRC74A
Full Name Leucine rich repeat containing 74A
Gene Type protein coding
Chromosomal Location 14q24.3
NCBI Gene ID 100506658 ncbi.nlm.nih.gov/gene/100506658
Ensembl ID ENSG00000255571
UniProt ID A6NKF9
OMIM ID Not available
HGNC ID 37247
Aliases C14orf49, LRRC74

Description

LRRC74A (leucine rich repeat containing 74A) is a protein-coding gene located on chromosome 14q24.3. It encodes a protein containing leucine-rich repeats (LRRs), which are motifs often involved in protein-protein interactions. The gene is expressed in various tissues, with notable levels in the testis and certain brain regions. Its function is not fully characterized, but based on expression and homology, it may play a role in ciliary assembly or function. Altered expression has been observed in some cancers, suggesting potential involvement in tumorigenesis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (pan-cancer) Altered expression; potential oncogenic or tumor suppressive role based on context COSMIC: expression changes in various tumor types; limited functional evidence
Ciliopathies (potential) LRR domain may be involved in ciliary protein interactions; not yet confirmed Inferred from homology and expression in ciliated tissues; no direct clinical evidence

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Cerebellum 8.3 Low
Thyroid 6.1 Low
Adrenal gland 5.4 Low
Lung 4.2 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 3.2 Low expression
HeLa 2.1 Low expression
K562 1.5 Very low expression
MCF7 4.0 Low expression
A549 3.8 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234A>G (p.Thr412Ala) Missense 0.001% (gnomAD) Unknown; predicted benign
c.567C>T (p.Pro189Leu) Missense 0.002% (gnomAD) Unknown; predicted possibly damaging
c.890_891insA (frameshift) Insertion Not reported Predicted loss-of-function; likely pathogenic if present
Mutation functional classification

Loss of Function (LOF)

Frameshift or nonsense mutations leading to truncated protein are likely to cause loss of function, potentially affecting ciliary function if relevant.

Gain of Function (GOF)

No evidence for gain-of-function mutations; not reported in literature.

Dominant Negative (DN)

No evidence for dominant-negative effects; not reported.

Pathways

• No specific pathways curated in major databases; may be involved in ciliary transport or assembly based on LRR domain.

Protein Summary

The LRRC74A protein is 512 amino acids long and contains leucine-rich repeats (LRRs) that are predicted to mediate protein-protein interactions. It is localized predominantly in the cytoplasm, with potential association with ciliary structures. The protein's exact function is unknown, but its expression pattern and domain architecture suggest a role in ciliary biology or intracellular signaling. Structural predictions indicate a solenoid-like LRR domain typical of proteins involved in immune responses or neuronal development, but further studies are needed.

Related Products

Product name Cat.No. Species Gene ID
LRRC74A Knockout HEK293 Cell Line EDJ-KQ10445 Human 145497 Details Get a Quote
LRRC74A Knockout HeLa Cell Line EDJ-KQ58521 Human 145497 Details Get a Quote
LRRC74A Knockout A-549 Cell Line EDJ-KQ67012 Human 145497 Details Get a Quote
LRRC74A Knockout HCT 116 Cell Line EDJ-KQ75412 Human 145497 Details Get a Quote
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