SOHLH1 (spermatogenesis and oogenesis specific basic helix-loop-helix 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
402381
Gene name Gene Name - the full gene name approved by the HGNC.
Spermatogenesis and oogenesis specific basic helix-loop-helix 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SOHLH1
Synonyms (NCBI Gene) Gene synonyms aliases
C9orf157, NOHLH, ODG5, SPATA27, SPGF32, TEB2, bA100C15.3, bHLHe80
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternativ
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs140132974 C>T Pathogenic, benign Splice acceptor variant
rs864309645 A>- Likely-pathogenic, pathogenic Coding sequence variant, frameshift variant
rs864309646 G>C Likely-pathogenic, pathogenic Coding sequence variant, intron variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(21)
miRTarBase ID miRNA Experiments Reference
MIRT1379236 hsa-miR-1197 CLIP-seq
MIRT1379237 hsa-miR-3619-3p CLIP-seq
MIRT1379238 hsa-miR-3652 CLIP-seq
MIRT1379239 hsa-miR-3928 CLIP-seq
MIRT1379240 hsa-miR-4430 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0003677 Function DNA binding IEA
GO:0003700 Function DNA-binding transcription factor activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610224 27845 ENSG00000165643
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q5JUK2
Protein name Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1
Protein function Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation with
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 55 → 104 Helix-loop-helix DNA-binding domain Domain
Sequence 
MASRCSEPYPEVSRIPTVRGCNGSLSGALSCCEDSARGSGPPKAPTVAEGPSSCLRRNVI
SERERRKRMSLSCERLRALLPQFDGRREDMASVLEMSVQFLRLASALGPSQEQHAILASS
KEMWHSLQEDVLQLTLSSQIQAGVPDPGTGASSGTRTPDVKAFLESPWSLDPASASPEPV
PHILASSRQWDPASCTSLGTDKCEALLGLCQVRGGLPPFSEPSSLVPWPPGRSLPKAVRP
PLSWPPFSQQQTLPVMSGEALGWLGQAGPLAMGAAPLGEPAKEDPMLAQEAGSALGSDVD
DGTSFLLTAGPSSWPGEWGPGFRAGPPA
Sequence length 328
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ovarian Dysgenesis ovarian dysgenesis 5 rs864309645, rs864309646 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypogonadism hypogonadism N/A N/A GenCC
Pancreatic cancer Pancreatic cancer N/A N/A GWAS
spermatogenic failure Spermatogenic Failure N/A N/A ClinVar
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Azoospermia Associate 28718531
Hypogonadism Associate 25774885
Oligospermia Associate 32655042
Primary Ovarian Insufficiency Associate 25527234, 31042289