This gene encodes a member of the zinc finger domain-containing protein family. This family member contains both a RING-type and a C2H2-type of zinc finger domain, and it may function as an E3 ubiquitin-protein ligase. Protein localization suggests a role in human sperm production and quality control. [provided by RefSeq, Aug 2011] See more...

Aliases for CBLL2 Gene

Aliases for CBLL2 Gene

  • Cbl Proto-Oncogene Like 2 2 3 5
  • Zinc Finger Protein 645 2 3 4
  • RING-Type E3 Ubiquitin Transferase ZNF645 3 4
  • E3 Ubiquitin-Protein Ligase CBLL2 3 4
  • Cbl Proto-Oncogene-Like Protein 2 3 4
  • C-Cbl-Like Protein 2 3 4
  • HAKAIL 2 3
  • ZNF645 3 4
  • CT138 2 3
  • E3 Ubiquitin-Protein Ligase ZNF645 3
  • E3 Ubiquitin Ligase 3
  • EC 2.3.2.27 4
  • FLJ25735 2
  • CBLL2 5

External Ids for CBLL2 Gene

Previous HGNC Symbols for CBLL2 Gene

  • ZNF645

Summaries for CBLL2 Gene

Entrez Gene Summary for CBLL2 Gene

  • This gene encodes a member of the zinc finger domain-containing protein family. This family member contains both a RING-type and a C2H2-type of zinc finger domain, and it may function as an E3 ubiquitin-protein ligase. Protein localization suggests a role in human sperm production and quality control. [provided by RefSeq, Aug 2011]

GeneCards Summary for CBLL2 Gene

CBLL2 (Cbl Proto-Oncogene Like 2) is a Protein Coding gene. Diseases associated with CBLL2 include Hypophosphatemic Rickets, X-Linked Dominant and Loeys-Dietz Syndrome 2. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is CBLL1.

UniProtKB/Swiss-Prot Summary for CBLL2 Gene

  • E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:20657603). May operate on tyrosine-phosphorylated SRC substrates (PubMed:22252131).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CBLL2 Gene

Genomics for CBLL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CBLL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ022220 Enhancer 0.8 FANTOM5 Ensembl ENCODE 0.2 -51.8 -51756 1.6 JUND FOS EP300 CEBPB piR-60885-169 PHEX-AS1 CBLL2 PHEX
GH0XJ022299 Enhancer 0.6 Ensembl 0.3 +27.7 27688 1.6 CEBPB EP300 JUND GATA2 BCL6B TRIM28 ZNF660 FOS ZBTB17 POLR2A RNU6-266P RF00998-143 MK280144-698 CBLL2 HSALNG0136975 DDX53 ENSG00000288546 PTCHD1-AS
GH0XJ022313 Enhancer 0.6 Ensembl ENCODE 0.3 +41.6 41588 2.6 REST NFE2 TAF1 EGR2 POLR2A BACH1 RF00998-143 CBLL2 ENSG00000231846 HSALNG0136975 DDX53 ENSG00000288546 PTCHD1-AS
GH0XJ022133 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 0.1 -137.5 -137476 3.2 ZNF217 CTCF CEBPB ZNF623 REST MBD2 TRIM22 SMC3 RAD21 CTBP1 piR-33804-174 lnc-SMPX-6 PHEX-AS1 PHEX piR-50437-683 CBLL2
GH0XJ022246 Enhancer 0.3 Ensembl ENCODE 0.3 -26.1 -26130 1.2 RNU6-266P piR-31534-719 HSALNG0136975 CBLL2 PHEX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CBLL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CBLL2

Genomic Locations for CBLL2 Gene

Latest Assembly
chrX:22,272,913-22,274,461
(GRCh38/hg38)
Size:
1,549 bases
Orientation:
Plus strand

Previous Assembly
chrX:22,291,030-22,292,578
(GRCh37/hg19 by Entrez Gene)
Size:
1,549 bases
Orientation:
Plus strand

chrX:22,291,065-22,292,574
(GRCh37/hg19 by Ensembl)
Size:
1,510 bases
Orientation:
Plus strand

Genomic View for CBLL2 Gene

Genes around CBLL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBLL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBLL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBLL2 Gene

Proteins for CBLL2 Gene

  • Protein details for CBLL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N7E2-CBLL2_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase CBLL2
    Protein Accession:
    Q8N7E2
    Secondary Accessions:
    • A0AV29
    • A0AV31
    • E3SBK4
    • Q6DJY9

    Protein attributes for CBLL2 Gene

    Size:
    425 amino acids
    Molecular mass:
    48785 Da
    Quaternary structure:
    • Homodimer.

neXtProt entry for CBLL2 Gene

Post-translational modifications for CBLL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CBLL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CBLL2 Gene

Domains & Families for CBLL2 Gene

Gene Families for CBLL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for CBLL2 Gene

Suggested Antigen Peptide Sequences for CBLL2 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 645 (E3SBK4_HUMAN)
  • Zinc finger protein 645 (ZN645_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N7E2

UniProtKB/Swiss-Prot:

CBLL2_HUMAN :
  • The HYB domain forms a phosphotyrosine-binding pocket upon dimerization, and mediates as well the recognition of its flanking acidic amino acids.
Domain:
  • The HYB domain forms a phosphotyrosine-binding pocket upon dimerization, and mediates as well the recognition of its flanking acidic amino acids.
genes like me logo Genes that share domains with CBLL2: view

Function for CBLL2 Gene

Molecular function for CBLL2 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:20657603). May operate on tyrosine-phosphorylated SRC substrates (PubMed:22252131).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000269|PubMed:20657603};.

Enzyme Numbers (IUBMB) for CBLL2 Gene

Phenotypes From GWAS Catalog for CBLL2 Gene

Gene Ontology (GO) - Molecular Function for CBLL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IBA 21873635
genes like me logo Genes that share ontologies with CBLL2: view
genes like me logo Genes that share phenotypes with CBLL2: view

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CBLL2 Gene

Localization for CBLL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBLL2 Gene

Cytoplasm. Note=Localized over the postacrosomal perinuclear theca region and the entire length of sperm tail. {ECO:0000269 PubMed:20657603}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CBLL2 gene
Compartment Confidence
nucleus 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for CBLL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CBLL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CBLL2 Gene

Pathways & Interactions for CBLL2 Gene

genes like me logo Genes that share pathways with CBLL2: view

UniProtKB/Swiss-Prot Q8N7E2-CBLL2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for CBLL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IBA,IEA --
GO:0030155 regulation of cell adhesion IBA 21873635
genes like me logo Genes that share ontologies with CBLL2: view

No data available for SIGNOR curated interactions for CBLL2 Gene

Drugs & Compounds for CBLL2 Gene

No Compound Related Data Available

Transcripts for CBLL2 Gene

mRNA/cDNA for CBLL2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for CBLL2 Gene

No ASD Table

Relevant External Links for CBLL2 Gene

GeneLoc Exon Structure for
CBLL2

Expression for CBLL2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CBLL2

mRNA Expression by UniProt/SwissProt for CBLL2 Gene:

Q8N7E2-CBLL2_HUMAN
Tissue specificity: Exclusively expressed in testis and sperm, including spermatocytes, round and elongated spermatids, and Leydig cells.

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CBLL2 Gene

Orthologs for CBLL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CBLL2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZNF645 30 31
  • 98.3 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 45 (a)
ManyToMany
-- 31
  • 37 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 42 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CBLL1 31
  • 35 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 41 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii cbll1 31
  • 35 (a)
ManyToMany
CU041386.1 31
  • 35 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Hakai 31
  • 16 (a)
OneToMany
Species where no ortholog for CBLL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CBLL2 Gene

ENSEMBL:
Gene Tree for CBLL2 (if available)
TreeFam:
Gene Tree for CBLL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CBLL2: view image

Paralogs for CBLL2 Gene

Paralogs for CBLL2 Gene

genes like me logo Genes that share paralogs with CBLL2: view

Variants for CBLL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CBLL2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs112235331 Benign: not provided 22,273,636(+) A/C
NM_152577.4(CBLL2):c.645A>C (p.Leu215=)
SYNONYMOUS
rs113314974 Benign: not provided 22,273,530(+) T/A
NM_152577.4(CBLL2):c.539T>A (p.Ile180Asn)
MISSENSE
rs138176282 Benign: not provided 22,273,089(+) T/A
NM_152577.4(CBLL2):c.98T>A (p.Ile33Asn)
MISSENSE
rs75062800 Benign: not provided 22,274,158(+) G/A
NM_152577.4(CBLL2):c.1167G>A (p.Arg389=)
SYNONYMOUS
rs12860105 - p.Ser287Phe

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CBLL2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CBLL2 Gene

Variant ID Type Subtype PubMed ID
nsv521384 CNV gain 19592680

Variation tolerance for CBLL2 Gene

Residual Variation Intolerance Score: 82.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.44; 64.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CBLL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBLL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBLL2 Gene

Disorders for CBLL2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CBLL2 Gene - From: CVR and COP

- elite association - COSMIC cancer census association via MalaCards
Search CBLL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CBLL2

genes like me logo Genes that share disorders with CBLL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CBLL2 Gene

Publications for CBLL2 Gene

  1. Human RING finger protein ZNF645 is a novel testis-specific E3 ubiquitin ligase. (PMID: 20657603) Liu YQ … Zhang SZ (Asian journal of andrology 2010) 2 3 4
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for CBLL2 Gene

Sources for CBLL2 Gene