HDX highly divergent homeobox [Homo sapiens (human)] - Gene

Summary

Official Symbol: HDXprovided by HGNC
Official Full Name: highly divergent homeoboxprovided by HGNC
Primary source: HGNC:HGNC:26411
See related: Ensembl:ENSG00000165259 MIM:300994; AllianceGenome:HGNC:26411
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: CXorf43; D030011N01Rik
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: Xq21.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (84317878..84502453, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (82754225..82938810, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (83572886..83757461, complement)

Chromosome X - NC_000023.11 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HDX negatively regulates EPAS1 expression through a release-of-inhibition mechanism.
Title: Promoter-associated proteins of EPAS1 identified by enChIP-MS - A putative role of HDX as a negative regulator.

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

DXS121 (e-PCR)
- UniSTS:23089

DXS1519 (e-PCR)
- UniSTS:98879

SHGC-18090 (e-PCR)
- UniSTS:56772

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 cis-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

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 nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: highly divergent homeobox

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_017158.2 RefSeqGene

Range

5027..189602

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001177478.2 → NP_001170949.1 highly divergent homeobox isoform 2

See identical proteins and their annotated locations for NP_001170949.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AK055240, AL035552

Consensus CDS

CCDS55456.1

UniProtKB/Swiss-Prot

Q7Z353

Related

ENSP00000423670.2, ENST00000506585.6

Conserved Domains (1) summary

cd00086
Location:381 → 437

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.
NM_001177479.2 → NP_001170950.1 highly divergent homeobox isoform 1

See identical proteins and their annotated locations for NP_001170950.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AL022160, AL035552, BC143522, DA719263

Consensus CDS

CCDS35342.1

UniProtKB/Swiss-Prot

A8K1Y5, B7ZL18, Q5JZB4, Q7Z353, Q96NK7

Related

ENSP00000362272.2, ENST00000373177.3

Conserved Domains (2) summary

smart00389
Location:4 → 59

HOX; Homeodomain

cd00086
Location:439 → 495

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.
NM_144657.5 → NP_653258.2 highly divergent homeobox isoform 1

See identical proteins and their annotated locations for NP_653258.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AL035552, BC101720, DA719263

Consensus CDS

CCDS35342.1

UniProtKB/Swiss-Prot

A8K1Y5, B7ZL18, Q5JZB4, Q7Z353, Q96NK7

Related

ENSP00000297977.5, ENST00000297977.9

Conserved Domains (2) summary

smart00389
Location:4 → 59

HOX; Homeodomain

cd00086
Location:439 → 495

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.

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

84317878..84502453 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029275.2 → XP_016884764.1 highly divergent homeobox isoform X2

Conserved Domains (2) summary

smart00389
Location:4 → 59

HOX; Homeodomain

cd00086
Location:421 → 477

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.
XM_017029274.2 → XP_016884763.1 highly divergent homeobox isoform X1

UniProtKB/Swiss-Prot

A8K1Y5, B7ZL18, Q5JZB4, Q7Z353, Q96NK7

Conserved Domains (2) summary

smart00389
Location:4 → 59

HOX; Homeodomain

cd00086
Location:439 → 495

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.
XM_047441827.1 → XP_047297783.1 highly divergent homeobox isoform X2
XM_011530864.2 → XP_011529166.1 highly divergent homeobox isoform X1

See identical proteins and their annotated locations for XP_011529166.1

UniProtKB/Swiss-Prot

A8K1Y5, B7ZL18, Q5JZB4, Q7Z353, Q96NK7

Conserved Domains (2) summary

smart00389
Location:4 → 59

HOX; Homeodomain

cd00086
Location:439 → 495

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.
XM_047441828.1 → XP_047297784.1 highly divergent homeobox isoform X2
XM_011530863.3 → XP_011529165.1 highly divergent homeobox isoform X1

See identical proteins and their annotated locations for XP_011529165.1

UniProtKB/Swiss-Prot

A8K1Y5, B7ZL18, Q5JZB4, Q7Z353, Q96NK7

Conserved Domains (2) summary

smart00389
Location:4 → 59

HOX; Homeodomain

cd00086
Location:439 → 495

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.
XM_047441829.1 → XP_047297785.1 highly divergent homeobox isoform X3