HLA-DRB1 (Gene)

Organism:

Homo sapiens

Synonyms:DRB1, ENTREZ:3123, HGNC:4948, HLA-DR1B, HLA-DRB, HLA-DRB1, MIM:142857, NM_001243965, NM_001359193, NM_001359194, NM_002124, NP_001230894, NP_001346122, NP_001346123, NP_002115, SS1, XM_024452553, XP_024308321, XR_002958969, XR_002958970, major histocompatibility complex, class II, DR beta 1

Id:ENSG00000229074

Description:major histocompatibility complex, class II, DR beta 1 [Source:HGNC Symbol;Acc:HGNC:4948]

HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View HLA-DRB1'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 HLA-DRB1.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using HLA-DRB1.

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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 HLA-DRB1.

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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 HLA-DRB1.

Results found

Linked to

	Label	Description
	Glaucoma Phenotype (Entity type)	Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usual...
	Visual loss Phenotype (Entity type)	Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise t...
	Alopecia Phenotype (Entity type)	A noncongenital process of hair loss, which may progress to partial or complete baldness.
	Infertility Phenotype (Entity type)	A Phenotype
	TARGET ID 15585 Collection (Entity type)	TargetPage Collection: (TID:15585; NCBI_GENE_ID:, FILE=tcrd_target_15585.json)
	Autism Phenotype (Entity type)	Autism is a neurodevelopmental disorder characterized by impaired social interaction and communicati...
	TARGET ID 16212 Collection (Entity type)	TargetPage Collection: (TID:16212; NCBI_GENE_ID:, FILE=tcrd_target_16212.json)
	Autoimmunity Phenotype (Entity type)	The occurrence of an immune reaction against the organism's own cells or tissues.
	Depression Phenotype (Entity type)	Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover fr...
	Hypoxemia Phenotype (Entity type)	An abnormally low level of blood oxygen.

Glaucoma

Phenotype (Entity type)

Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usual...

Visual loss

Phenotype (Entity type)

Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise t...

Alopecia

Phenotype (Entity type)

A noncongenital process of hair loss, which may progress to partial or complete baldness.

Infertility

Phenotype (Entity type)

A Phenotype

TARGET ID 15585

Collection (Entity type)

TargetPage Collection: (TID:15585; NCBI_GENE_ID:, FILE=tcrd_target_15585.json)

Autism

Phenotype (Entity type)

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

TARGET ID 16212

Collection (Entity type)

TargetPage Collection: (TID:16212; NCBI_GENE_ID:, FILE=tcrd_target_16212.json)

Autoimmunity

Phenotype (Entity type)

The occurrence of an immune reaction against the organism's own cells or tissues.

Depression

Phenotype (Entity type)

Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover fr...

Hypoxemia

Phenotype (Entity type)

An abnormally low level of blood oxygen.

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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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