Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 425054
Gene name Variable charge X-linked 3B
Gene symbol VCX3B
Synonyms (NCBI Gene)
VCX-CVCXC
Chromosome X
Chromosome location Xp22.31
Summary This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22, and the Y-linked members are two identical cop
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus ISS
GO:0005730 Component Nucleolus ISS
GO:0007420 Process Brain development IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300981 31838 ENSG00000205642
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H321
Protein name Variable charge X-linked protein 3B (Variably charged protein X-C) (VCX-C)
Protein function May mediate a process in spermatogenesis or may play a role in sex ratio distortion.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15231 VCX_VCY 1 → 129 Variable charge X/Y family Family
Tissue specificity TISSUE SPECIFICITY: Expressed exclusively in testis.
Sequence
MSPKPRASGPPAKAKEAGKRKSSSQPSPSDPKKKTTKVAKKGKAVRRGRRGKKGAATKMA
AVTAPEAESGPAAPGPSDQPSQELPQHELPPEEPVSEGTQHDPLSQESELEEPLSQESEV
EEPLSQESQ
VEEPLSQESEVEEPLSQESQVEEPLSQESEVEEPLSQESEVEEPLSQESQV
EEPLSQESEVEEPLSQESQVEEPLSQESEMEEPLSQESQVEEPLSQESEMEEPLSQESEM
EELPSV
Sequence length 246
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenoleukodystrophy Adrenoleukodystrophy Pubtator 36513788 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ichthyosis, X-Linked Ichthyosis BEFREE 18076704
★★★★★
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 18076704
★★★★★
★☆☆☆☆
Found in Text Mining only
Mental Retardation Mental retardation BEFREE 18076704
★★★★★
★☆☆☆☆
Found in Text Mining only
Placental Steroid Sulfatase Deficiency Placental Steroid Sulfatase Deficiency BEFREE 18076704
★★★★★
★☆☆☆☆
Found in Text Mining only