SPATA31H1: A Testis-Expressed Gene of the SPATA31 Family

Comprehensive genomic and functional overview of SPATA31H1, a spermatogenesis-associated gene with limited functional characterization.

Gene Information Card

Symbol SPATA31H1
Full Name Spermatogenesis Associated 31H1
Gene Type protein-coding
Chromosomal Location 9q31.3
NCBI Gene ID 100130889 ncbi.nlm.nih.gov/gene/100130889
Ensembl ID ENSG00000214756
UniProt ID A0A1B0GTV6
OMIM ID -
HGNC ID 37200
Aliases SPATA31-1, SPATA31H1P

Description

SPATA31H1 (Spermatogenesis Associated 31H1) is a protein-coding gene located on chromosome 9q31.3. It belongs to the SPATA31 gene family, which is predominantly expressed in the testis and is thought to play a role in spermatogenesis. The gene has limited functional characterization, and its exact biological role remains to be fully elucidated.

Disease Associations

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

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 variants - - -
Mutation functional classification

Loss of Function (LOF)

No data

Gain of Function (GOF)

No data

Dominant Negative (DN)

No data

Protein Summary

The SPATA31H1 protein is predicted to be a member of the SPATA31 family, with no experimentally determined structure or function. It is likely involved in spermatogenesis based on family homology, but no specific molecular function or cellular component has been assigned.

Related Products

Product name Cat.No. Species Gene ID
SPATA31H1 Knockout HEK293 Cell Line EDJ-KQ10017 Human 84226 Details Get a Quote
SPATA31H1 Knockout A-549 Cell Line EDJ-KQ37006 Human 84226 Details Get a Quote
SPATA31H1 Knockout HeLa Cell Line EDJ-KQ57555 Human 84226 Details Get a Quote
SPATA31H1 Knockout HCT 116 Cell Line EDJ-KQ74475 Human 84226 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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