Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ODG5, SPGF32
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

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

Show/Hide all(21)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007275	Process	Multicellular organism development	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0009994	Process	Oocyte differentiation	ISS
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030154	Process	Cell differentiation	ISS
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0046982	Function	Protein heterodimerization activity	ISS

MIM	HGNC	e!Ensembl
610224	27845	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

Interactions

View interactions

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Azoospermia	Azoospermia	rs200969445, rs144567652, rs765353898
Male infertility	Male infertility with azoospermia or oligozoospermia due to single gene mutation	rs554675432, rs9332971, rs397507505, rs797045116, rs748618094, rs781431741, rs1555979575, rs377581367
Non-obstructive azoospermia	Non-obstructive azoospermia	rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900
Obstructive azoospermia	Obstructive azoospermia	rs121909016, rs121908805, rs144055758, rs397508761
Ovarian dysgenesis	OVARIAN DYSGENESIS 5	rs104894765, rs121909658, rs121909660, rs121909661, rs121909662, rs386833512, rs2093045125, rs386833510, rs386833511, rs386833513, rs386833514, rs386833515, rs864309645, rs864309646, rs1555178358, rs1567753148, rs1597722169 View all (2 more)	25774885
Spermatogenic failure	SPERMATOGENIC FAILURE 32	rs193929390, rs193929391, rs587776620, rs769825641, rs80034486, rs778145751, rs387906690, rs201095702, rs312262776, rs140210148, rs142371860, rs538539239, rs147579680, rs587777205, rs751879424 View all (104 more)	20506135, 28718531

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Evidence	Source
Unknown
Ovarian Dysgenesis	ovarian dysgenesis 5		GenCC
Hypogonadism	hypogonadism		GenCC
Pancreatic cancer	Pancreatic cancer	Genome-Wide CRISPR Screening Identifies DCK and CCNL1 as Genes That Contribute to Gemcitabine Resistance in Pancreatic Cancer	GWAS, CBGDA

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining
Azoospermia	Associate	28718531
Hypogonadism	Associate	25774885
Oligospermia	Associate	32655042
Primary Ovarian Insufficiency	Associate	25527234, 31042289

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