HOXC8 homeobox C8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HOXC8provided by HGNC
Official Full Name: homeobox C8provided by HGNC
Primary source: HGNC:HGNC:5129
See related: Ensembl:ENSG00000037965 MIM:142970; AllianceGenome:HGNC:5129
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: HOX3; HOX3A
Summary: This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [provided by RefSeq, Jul 2008]
Expression: Biased expression in fat (RPKM 3.5), adrenal (RPKM 3.0) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (54008985..54012769)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (53960328..53978298)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (54402769..54406553)

Chromosome 12 - NC_000012.12 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
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?

DNA Methylation-Regulated HOXC8's Role in HER2-Positive Breast Cancer Function and its Contribution to Herceptin Resistance.
Title: DNA Methylation-Regulated HOXC8's Role in HER2-Positive Breast Cancer Function and its Contribution to Herceptin Resistance.
Human papillomavirus type 16 E7 promotes cell viability and migration in cervical cancer by regulating the miR-23a/HOXC8 axis.
Title: Human papillomavirus type 16 E7 promotes cell viability and migration in cervical cancer by regulating the miR-23a/HOXC8 axis.
HOXC8 alleviates high glucose-triggered damage of trophoblast cells during gestational diabetes mellitus via activating TGFbeta1-mediated Notch1 pathway.
Title: HOXC8 alleviates high glucose-triggered damage of trophoblast cells during gestational diabetes mellitus via activating TGFβ1-mediated Notch1 pathway.
HOXC6/8/10/13 predict poor prognosis and associate with immune infiltrations in glioblastoma.
Title: HOXC6/8/10/13 predict poor prognosis and associate with immune infiltrations in glioblastoma.
MiR-148a-3p may contribute to flawed decidualization in recurrent implantation failure by modulating HOXC8.
Title: MiR-148a-3p may contribute to flawed decidualization in recurrent implantation failure by modulating HOXC8.
Homeobox C8 inhibited the osteo-/dentinogenic differentiation and migration ability of stem cells of the apical papilla via activating KDM1A.
Title: Homeobox C8 inhibited the osteo-/dentinogenic differentiation and migration ability of stem cells of the apical papilla via activating KDM1A.
An Integrated Genomic Approach Identifies HOXC8 as an Upstream Regulator in Ovarian Endometrioma.
Title: An Integrated Genomic Approach Identifies HOXC8 as an Upstream Regulator in Ovarian Endometrioma.
these data indicate that E-cadherin is a target gene of HOXC8 and that the loss of E-cadherin promotes the growth and migration of NSCLC.
Title: Homeobox C8 is a transcriptional repressor of E-cadherin gene expression in non-small cell lung cancer.
our results showed that the HOXC8-MGP axis played an important role in the tumorigenesis of Triple-negative breast cancer (TNBC) and might be a promising therapeutic target for TNBC treatment
Title: Upregulation of MGP by HOXC8 promotes the proliferation, migration, and EMT processes of triple-negative breast cancer.
Results show that HOXC8 is consistently downregulated in stem/progenitor cells of all breast molecular subtypes, thus representing a putative tumor suppressor candidate. Also, downregulated expression of HOXC8 is associated with DNA methylation at the gene promoter and expression of miR196 family members. Taken together, study establishes HOXC8 as a suppressor of stemness and transformation in the mammary gland lineage.
Title: HOXC8 regulates self-renewal, differentiation and transformation of breast cancer stem cells.

Submit: New GeneRIF Correction See all GeneRIFs (24)

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

Hoxc8 (e-PCR), detects polymorphism
- UniSTS:143391

MARC_41665-41666:1086710236:1 (e-PCR)
- UniSTS:471605

MARC_43876-43875:1099078210:3 (e-PCR)
- UniSTS:471614

Hoxc8 (e-PCR), detects polymorphism
- UniSTS:536664

HOXC8_2494 (e-PCR)
- UniSTS:280762

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: homeobox protein Hox-C8

Names: Hox-3.1, mouse, homolog of; homeo box 3A; homeo box C8; homeobox protein Hox-3A

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.