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

Gene

• Entrez ID: 402381
• Gene name: Spermatogenesis and oogenesis specific basic helix-loop-helix 1
• Gene symbol: SOHLH1
• Synonyms (NCBI Gene): C9orf157, NOHLH, ODG5, SPATA27, SPGF32, TEB2, bA100C15.3, bHLHe80
• Chromosome: 9
• Chromosome location: 9q34.3
• Summary: 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 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

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
MIRT1379241	hsa-miR-4436a	CLIP-seq
MIRT1379242	hsa-miR-4492	CLIP-seq
MIRT1379243	hsa-miR-4498	CLIP-seq
MIRT1379244	hsa-miR-4700-3p	CLIP-seq
MIRT1379245	hsa-miR-4776-5p	CLIP-seq
MIRT1379246	hsa-miR-552	CLIP-seq
MIRT1379247	hsa-miR-615-5p	CLIP-seq
MIRT1379248	hsa-miR-642b	CLIP-seq
MIRT1379249	hsa-miR-671-5p	CLIP-seq
MIRT1379250	hsa-miR-762	CLIP-seq
MIRT2336377	hsa-miR-1281	CLIP-seq
MIRT2336378	hsa-miR-4707-3p	CLIP-seq
MIRT2691746	hsa-miR-146b-3p	CLIP-seq
MIRT2691747	hsa-miR-3173-5p	CLIP-seq
MIRT2691748	hsa-miR-339-5p	CLIP-seq
MIRT2691749	hsa-miR-874	CLIP-seq

Gene ontology (GO)

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
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0009994	Process	Oocyte differentiation	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	ISS
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0046983	Function	Protein dimerization activity	IEA

Other IDs

• MIM: 610224
• HGNC: 27845
• e!Ensembl: ENSG00000165643

Protein

• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Genetic non-acquired premature ovarian failure	Likely pathogenic	rs2131296288	RCV001661774	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic hypergonadotropic hypogonadism	Likely pathogenic; Pathogenic	rs864309645, rs864309646	RCV000203243 RCV000203231	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian dysgenesis 5	Likely pathogenic; Pathogenic	rs864309645, rs864309646, rs2490519684	RCV000508305 RCV000506534 RCV003127200	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SOHLH1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spermatogenic Failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spermatogenic failure 32	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Astrocytoma	Astrocytoma	BEFREE	29240260		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	28718531	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	20506135		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29240260		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29240260		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	25774885	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Male infertility	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29240260		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	28718531		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
OVARIAN DYSGENESIS 5	Ovarian Dysgenesis	CLINVAR_DG	25774885		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Failure, Premature	Ovarian Failure	BEFREE	25527234, 31042289		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	GENOMICS_ENGLAND_DG	25527234		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	25527234		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	25774885		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	CLINVAR_DG	25774885		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 32	Spermatogenic Failure	UNIPROT_DG	20506135, 28718531		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Testicular hypogonadism	Testicular Hypogonadism	BEFREE	20506135		★☆☆☆☆ Found in Text Mining only