ZCCHC7

Zinc Finger CCHC Domain-Containing Protein 7

Gene Information Card

Symbol ZCCHC7
Full Name Zinc Finger CCHC Domain-Containing Protein 7
Gene Type Protein coding
Chromosomal Location 9q34.3
NCBI Gene ID 79686 ncbi.nlm.nih.gov/gene/79686
Ensembl ID ENSG00000107175
UniProt ID Q8N3Z0
OMIM ID 617977
HGNC ID 28989
Aliases FLJ11273, ZCCHC7, zinc finger CCHC-type containing 7

Description

ZCCHC7 is a protein-coding gene located on chromosome 9q34.3. It encodes a zinc finger protein containing CCHC-type domains, which are typically involved in nucleic acid binding. The protein is predicted to localize to the nucleus and may play a role in RNA processing or gene regulation. Expression data suggest broad but low-level expression across tissues. Limited functional studies exist, but alterations in ZCCHC7 have been reported in some cancer types.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Lung adenocarcinoma Somatic mutations (e.g., missense) observed in COSMIC; potential tumor suppressor role COSMIC v99
Colorectal carcinoma Copy number alterations and mutations reported COSMIC v99
Breast cancer Rare mutations identified in sequencing studies COSMIC v99

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 3.2 Low
Thyroid 2.8 Low
Adrenal gland 2.5 Low
Lung 1.9 Low
Brain 1.5 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 2.1 Embryonic kidney; moderate expression
HeLa 1.8 Cervical carcinoma; low expression
A549 1.5 Lung carcinoma; low expression
K562 1.2 Leukemia; low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
p.Gly111Arg Missense <0.1% Unknown; predicted possibly damaging
p.Arg245* Nonsense <0.1% Loss of function; truncation
c.1234_1235del Frameshift deletion <0.1% Loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations are predicted to cause loss of function.

Gain of Function (GOF)

No evidence for gain-of-function mutations.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Protein Summary

ZCCHC7 encodes a 546-amino acid protein containing two CCHC-type zinc finger domains. The protein is predicted to bind nucleic acids and localize to the nucleus. Its exact biological function remains poorly characterized, but it may be involved in RNA metabolism or transcriptional regulation. Expression is low across most tissues, with highest levels in testis and thyroid. Mutations are rare but have been reported in cancer.

Related Products

Product name Cat.No. Species Gene ID
ZCCHC7 Knockout HEK293 Cell Line EDJ-KQ10003 Human 84186 Details Get a Quote
ZCCHC7 Knockout A-549 Cell Line EDJ-KQ36973 Human 84186 Details Get a Quote
ZCCHC7 Knockout HCT 116 Cell Line EDJ-KQ36974 Human 84186 Details Get a Quote
ZCCHC7 Knockout HeLa Cell Line EDJ-KQ35762 Human 84186 Details Get a Quote
Contact Us
*
*
*
How did you hear about us: