HOMEZ homeobox and leucine zipper encoding [Homo sapiens (human)] - Gene

Summary

Official Symbol: HOMEZprovided by HGNC
Official Full Name: homeobox and leucine zipper encodingprovided by HGNC
Primary source: HGNC:HGNC:20164
See related: Ensembl:ENSG00000290292 MIM:608119; AllianceGenome:HGNC:20164
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: KIAA1443
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis (RPKM 9.5), urinary bladder (RPKM 4.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (23272422..23286132, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17473401..17487130, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23741631..23755341, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

study identified two novel heterozygous missense mutations in HOMEZ gene exon-2 in isolated VSD patients in the Chinese population and have found that these two mutations resulted in alteration of the hydropathicity of the HOMEZ protein
Title: Identification of two novel mutations of the HOMEZ gene in Chinese patients with isolated ventricular septal defect.
no single gene of major effect could be convincingly identified in a sample of Indian CHD cases born to consanguineous parents. The possibility that noncoding regions of HOMEZ may harbor recessive mutations leading to CHD could not be excluded.
Title: Consanguinity mapping of congenital heart disease in a South Indian population.

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay 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 and leucine zipper protein Homez

Names: homeodomain leucine zipper-containing factor

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.

mRNA and Protein(s)

NM_020834.3 → NP_065885.2 homeobox and leucine zipper protein Homez

See identical proteins and their annotated locations for NP_065885.2

Status: VALIDATED

Source sequence(s)

AF463523, AL049829, BC045733, DC398645

Consensus CDS

CCDS45085.1

UniProtKB/Swiss-Prot

A1L445, B4DZ80, F8WCA3, Q6P049, Q86XB6, Q8IX15, Q9P2A5

UniProtKB/TrEMBL

B4DLB7

Related

ENSP00000350049.4, ENST00000357460.7

Conserved Domains (2) summary

cd00086
Location:358 → 415

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam11569
Location:466 → 508

Homez; Homeodomain leucine-zipper encoding, Homez