UNC13D unc-13 homolog D [Homo sapiens (human)] - Gene

Summary

Official Symbol: UNC13Dprovided by HGNC
Official Full Name: unc-13 homolog Dprovided by HGNC
Primary source: HGNC:HGNC:23147
See related: Ensembl:ENSG00000092929 MIM:608897; AllianceGenome:HGNC:23147
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: FHL3; HLH3; HPLH3; Munc13-4
Summary: This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]
Expression: Broad expression in bone marrow (RPKM 20.9), lung (RPKM 16.7) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (75827225..75844404, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (76720377..76737555, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (73823306..73840485, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.
Title: Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.
Title: Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
Title: Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by UNC13D Genetic Defects.
Title: Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by UNC13D Genetic Defects.
Unc-13 homolog D mediates an antiviral effect of the chromosome 19 microRNA cluster miR-517a.
Title: Unc-13 homolog D mediates an antiviral effect of the chromosome 19 microRNA cluster miR-517a.
Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets.
Title: Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets.
Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations.
Title: Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations.
Defective Zn(2+) homeostasis in mouse and human platelets with alpha- and delta-storage pool diseases.
Title: Defective Zn(2+) homeostasis in mouse and human platelets with α- and δ-storage pool diseases.
Cross-regulation of defective endolysosome trafficking and enhanced autophagy through TFEB in UNC13D deficiency.
Title: Cross-regulation of defective endolysosome trafficking and enhanced autophagy through TFEB in UNC13D deficiency.
MUNC13-4 mutations play a role in the development of familial haemophagocytic lymphohistiocytosis subtype 3 through a defective cytotoxic pathway
Title: Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes.

Submit: New GeneRIF Correction See all GeneRIFs (63)

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

Associated conditions

Description	Tests
Familial hemophagocytic lymphohistiocytosis 3 MedGen: C1837174 OMIM: 608898 GeneReviews: Not available	Compare labs

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

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

G42954 (e-PCR)
- UniSTS:94841

D11S3114 (e-PCR)
- UniSTS:152207

D16S325 (e-PCR)
- UniSTS:147089

D11S3316 (e-PCR)
- UniSTS:152558

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 small GTPase binding	IDA Inferred from Direct Assay more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in germinal center formation	IEA Inferred from Electronic Annotation more info
involved_in granuloma formation	IEA Inferred from Electronic Annotation more info
involved_in natural killer cell degranulation	IEA Inferred from Electronic Annotation more info
involved_in phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of regulated secretory pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IEA Inferred from Electronic Annotation more info
involved_in regulation of mast cell degranulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in secretion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Weibel-Palade body	IDA Inferred from Direct Assay more info	PubMed
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in exocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in exocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in late endosome	IEA Inferred from Electronic Annotation more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein unc-13 homolog D

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_007266.1 RefSeqGene

Range

5001..22493

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_122

mRNA and Protein(s)

NM_199242.3 → NP_954712.1 protein unc-13 homolog D

See identical proteins and their annotated locations for NP_954712.1

Status: REVIEWED

Source sequence(s)

AC087289

Consensus CDS

CCDS11730.1

UniProtKB/Swiss-Prot

B4DWG9, Q70J99, Q9H7K5

Related

ENSP00000207549.3, ENST00000207549.9

Conserved Domains (3) summary

cd04009
Location:910 → 1039

C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins

cd08676
Location:84 → 263

C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins

pfam10540
Location:790 → 891

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain