SPATA31E1: Spermatogenesis Associated 31 Family Member E1

A testis-specific gene of unknown function, member of the SPATA31 gene family.

Gene Information Card

Symbol SPATA31E1
Full Name Spermatogenesis Associated 31 Family Member E1
Gene Type protein-coding
Chromosomal Location 9q34.3
NCBI Gene ID 389170 ncbi.nlm.nih.gov/gene/389170
Ensembl ID ENSG00000180573
UniProt ID A6NKD9
OMIM ID -
HGNC ID 37222
Aliases SPATA31E1, C9orf163, FLJ46321

Description

SPATA31E1 (Spermatogenesis Associated 31 Family Member E1) is a protein-coding gene located on chromosome 9q34.3. It belongs to the SPATA31 gene family, which is characterized by testis-enriched expression. The exact biological function of SPATA31E1 is not yet fully characterized, but it is thought to be involved in spermatogenesis based on its expression pattern and family membership.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No known disease associations - No evidence in ClinVar, OMIM, or COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 0.3 Low
Cell Line Expression
Cell Line nTPM Notes
No data available - -
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No reported mutations - - -
Mutation functional classification

Loss of Function (LOF)

No data available

Gain of Function (GOF)

No data available

Dominant Negative (DN)

No data available

Protein Summary

The SPATA31E1 protein (UniProt A6NKD9) is predicted to be a single-pass membrane protein. Its molecular function and cellular role remain uncharacterized. No functional domains have been experimentally validated.

Related Products

Product name Cat.No. Species Gene ID
SPATA31E1 Knockout HEK293 Cell Line EDJ-KQ15452 Human 286234 Details Get a Quote
SPATA31E1 Knockout HeLa Cell Line EDJ-KQ59551 Human 286234 Details Get a Quote
SPATA31E1 Knockout A-549 Cell Line EDJ-KQ68017 Human 286234 Details Get a Quote
SPATA31E1 Knockout HCT 116 Cell Line EDJ-KQ76396 Human 286234 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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