CBLL2 Cbl proto-oncogene like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CBLL2provided by HGNC
Official Full Name: Cbl proto-oncogene like 2provided by HGNC
Primary source: HGNC:HGNC:26371
See related: Ensembl:ENSG00000175809 AllianceGenome:HGNC:26371
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CT138; HAKAIL; ZNF645
Summary: 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]
Orthologs: all
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Genomic context

Location:: Xp22.11

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (22272913..22274461)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (21856311..21857859)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (22291030..22292578)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel RING finger protein, ZNF645, which is expressed specifically in human testis and sperm and has E3 ubiquitin ligase activity.
Title: Human RING finger protein ZNF645 is a novel testis-specific E3 ubiquitin ligase.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:490014

NoName (e-PCR)
- UniSTS:481395

NoName (e-PCR)
- UniSTS:494509

NoName (e-PCR)
- UniSTS:482007

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell adhesion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase CBLL2

Names: E3 ubiquitin ligase; E3 ubiquitin-protein ligase ZNF645; RING-type E3 ubiquitin transferase ZNF645; c-Cbl-like protein 2; cbl proto-oncogene-like protein 2; zinc finger protein 645

NP_689790.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021438.1 RefSeqGene

Range

4971..6519

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_152577.4 → NP_689790.1 E3 ubiquitin-protein ligase CBLL2

See identical proteins and their annotated locations for NP_689790.1

Status: REVIEWED

Source sequence(s)

BX293560

Consensus CDS

CCDS14205.1

UniProtKB/Swiss-Prot

A0AV29, A0AV31, E3SBK4, Q6DJY9, Q8N7E2

Related

ENSP00000323348.2, ENST00000323684.4

Conserved Domains (1) summary

cd00162
Location:57 → 100

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...