FUNDC2 FUN14 domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FUNDC2provided by HGNC
Official Full Name: FUN14 domain containing 2provided by HGNC
Primary source: HGNC:HGNC:24925
See related: Ensembl:ENSG00000165775 MIM:301042; AllianceGenome:HGNC:24925
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DC44; HCC3; HCBP6; PD03104
Summary: Enables phosphatidylinositol-3,4,5-trisphosphate binding activity. Involved in intracellular triglyceride homeostasis. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in heart (RPKM 26.0), ovary (RPKM 19.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (155026844..155060304)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (153263246..153296709)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (154255119..154288579)

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

Expression

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See details

Project title: 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?

FUNDC2, a mitochondrial outer membrane protein, mediates triple-negative breast cancer progression via the AKT/GSK3beta/GLI1 pathway.
Title: FUNDC2, a mitochondrial outer membrane protein, mediates triple-negative breast cancer progression via the AKT/GSK3β/GLI1 pathway.
FUNDC2 promotes liver tumorigenesis by inhibiting MFN1-mediated mitochondrial fusion.
Title: FUNDC2 promotes liver tumorigenesis by inhibiting MFN1-mediated mitochondrial fusion.
Methylation of the HCBP6 promoter is associated with primary biliary cholangitis pathogenesis.
Title: Methylation of the HCBP6 promoter is associated with primary biliary cholangitis pathogenesis.
This data indicate that FUNDC2 directly and selectively binds to PIP3 via its PB motif. Fractionation assays with HeLa cell lysates biochemically confirmed the localization of endogenous FUNDC2 to mitochondria.
Title: Mitochondrial PIP3-binding protein FUNDC2 supports platelet survival via AKT signaling pathway.
These results indicate that HCBP6 upregulates human SREBP1c expression by binding to the C/EBPbeta-binding site in the SREBP1c promoter.
Title: HCBP6 upregulates human SREBP1c expression by binding to C/EBPβ-binding site in the SREBP1c promoter.
our results provide new evidence that miR-122-regulated HCBP6 functions as a sensor protein to maintain intrahepatocyte Triglyceride levels.
Title: HCBP6 Modulates Triglyceride Homeostasis in Hepatocytes Via the SREBP1c/FASN Pathway.

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

ECD03608 (e-PCR)
- UniSTS:284688

ECD22399 (e-PCR)
- UniSTS:303387

ECD20614 (e-PCR)
- UniSTS:301613

ECD18560 (e-PCR)
- UniSTS:299571

ECD13457 (e-PCR)
- UniSTS:294487

ECD06005 (e-PCR)
- UniSTS:287067

ECD21185 (e-PCR)
- UniSTS:302182

ECD21451 (e-PCR)
- UniSTS:302448

ECD24296 (e-PCR)
- UniSTS:305280

ECD09392 (e-PCR)
- UniSTS:290436

ECD07087 (e-PCR)
- UniSTS:288145

STS-AA002210 (e-PCR)
- UniSTS:65968

ECD23325 (e-PCR)
- UniSTS:304309

ECD22301 (e-PCR)
- UniSTS:303289

ECD07678 (e-PCR)
- UniSTS:288728

stSG604417 (e-PCR)
- UniSTS:447720

stSG604421 (e-PCR)
- UniSTS:447724

ECD07963 (e-PCR)
- UniSTS:289012

ECD13623 (e-PCR)
- UniSTS:294651

ECD17738 (e-PCR)
- UniSTS:298750

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagy of mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular triglyceride homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of platelet activation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: FUN14 domain-containing protein 2

Names: HCC-3; cervical cancer oncogene 3; cervical cancer proto-oncogene 3 protein; hepatitis C virus core-binding protein 6

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.