HERC2 (Gene)

Organism:

Homo sapiens

Synonyms:D15F37S1, ENTREZ:8924, HECT and RLD domain containing E3 ubiquitin protein ligase 2, HERC2, HGNC:4868, MIM:605837, MRT38, NM_004667, NP_004658, SHEP1, XM_005268276, XM_006720726, XM_006720727, XM_017022695, XM_017022696, XM_017022697, XM_017022698, XP_005268333, XP_006720789, XP_006720790, XP_016878184, XP_016878185, XP_016878186, XP_016878187, XR_001751410, XR_931930, jdf2, p528

Id:ENSG00000277278

Description:HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Source:HGNC Symbol;Acc:HGNC:4868]

This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View HERC2's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with HERC2.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using HERC2.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for HERC2.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with HERC2.

Results found

Linked to

	Label	Description
	Infertility Phenotype (Entity type)	A Phenotype
	Autism Phenotype (Entity type)	Autism is a neurodevelopmental disorder characterized by impaired social interaction and communicati...
	Hyperlipidemia Phenotype (Entity type)	An elevated lipid concentration in the blood.
	Chronic kidney disease Phenotype (Entity type)	Functional anomaly of the kidney persisting for at least three months.
	Sleep apnea Phenotype (Entity type)	An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apn...
	Osteoporosis Phenotype (Entity type)	Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural...
	Carious teeth Phenotype (Entity type)	Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has b...
	Obesity Phenotype (Entity type)	Accumulation of substantial excess body fat.
	Small for gestational age Phenotype (Entity type)	Smaller than normal size according to sex and gestational age related norms, defined as a weight bel...

Infertility

Phenotype (Entity type)

A Phenotype

Autism

Phenotype (Entity type)

Autism is a neurodevelopmental disorder characterized by impaired social interaction and communicati...

Hyperlipidemia

Phenotype (Entity type)

An elevated lipid concentration in the blood.

Chronic kidney disease

Phenotype (Entity type)

Functional anomaly of the kidney persisting for at least three months.

Sleep apnea

Phenotype (Entity type)

An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apn...

Osteoporosis

Phenotype (Entity type)

Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural...

Carious teeth

Phenotype (Entity type)

Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has b...

Obesity

Phenotype (Entity type)

Accumulation of substantial excess body fat.

Small for gestational age

Phenotype (Entity type)

Smaller than normal size according to sex and gestational age related norms, defined as a weight bel...

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The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

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Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

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