U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ZFHX2 zinc finger homeobox 2 [ Homo sapiens (human) ]

Gene ID: 85446, updated on 3-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
ZFHX2provided by HGNC
Official Full Name
zinc finger homeobox 2provided by HGNC
Primary source
HGNC:HGNC:20152
See related
Ensembl:ENSG00000136367 MIM:617828; AllianceGenome:HGNC:20152
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
ZFH5; ZFH-5; MARSIS; ZNF409
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. Involved in regulation of sensory perception of pain. Located in nucleus. Implicated in Marsili syndrome. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 3.0), brain (RPKM 0.7) and 5 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See ZFHX2 in Genome Data Viewer
Location:
14q11.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23520857..23555952, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17721418..17756364, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23990066..24020974, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 Neighboring gene microRNA 208b Neighboring gene myosin heavy chain 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23904729-23905566 Neighboring gene VISTA enhancer hs1670 Neighboring gene VISTA enhancer hs2330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5609 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:23938675-23939615 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23951280-23952037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23952038-23952794 Neighboring gene neuroguidin Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:23963206-23963906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23993935-23994786 Neighboring gene thiamine triphosphatase Neighboring gene uncharacterized LOC124903289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24001492-24001992 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24006625-24007504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24014522-24015146 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24017019-24017642 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24019766-24020428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24024860-24025794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24031286-24031786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24031787-24032287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8175 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5611 Neighboring gene AP1G2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24046010-24046770 Neighboring gene adaptor related protein complex 1 subunit gamma 2 Neighboring gene junctophilin 4

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. Habib AM, et al. Brain, 2018 Feb 1. PMID 29253101, Free PMC Article
  2. Congenital Insensitivity to Pain Overview. Adam MP, et al. , 1993. PMID 29419974
  3. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
  4. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Kikuno R, et al. DNA Res, 1999 Jun 30. PMID 10470851
  5. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. this study demonstrate that a A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
    Title: A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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
Indifference to pain, congenital, autosomal dominant
MedGen: C4538468 OMIM: 147430 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ17566, FLJ42478, KIAA1056, KIAA1762, MGC141820

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 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in adult behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of sensory perception of pain IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
zinc finger homeobox protein 2
Names
ZFH-2
zinc finger homeodomain protein 2
zinc finger protein 409

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. NM_033400.3 → NP_207646.2  zinc finger homeobox protein 2

    See identical proteins and their annotated locations for NP_207646.2

    Status: VALIDATED

    Source sequence(s)
    AB028979, AB051549, AI093184, AL132855, AL135999, BC144336, BC150606
    Consensus CDS
    CCDS55907.1
    UniProtKB/Swiss-Prot
    Q9C0A1, Q9UPU6
    UniProtKB/TrEMBL
    A0A2P1H683
    Related
    ENSP00000413418.2, ENST00000419474.5
    Conserved Domains (6) summary
    cd00086
    Location:1858 → 1916
    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.
    sd00017
    Location:1193 → 1215
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:2453 → 2496
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00046
    Location:2069 → 2121
    Homeobox; Homeobox domain
    pfam13909
    Location:508 → 532
    zf-H2C2_5; C2H2-type zinc-finger domain
    cl26464
    Location:2207 → 2365
    Atrophin-1; Atrophin-1 family

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

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    23520857..23555952 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431824.1 → XP_047287780.1  zinc finger homeobox protein 2 isoform X5

  2. XM_011537245.4 → XP_011535547.1  zinc finger homeobox protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011535547.1

    UniProtKB/Swiss-Prot
    Q9C0A1, Q9UPU6
    UniProtKB/TrEMBL
    A0A2P1H683
    Conserved Domains (6) summary
    cd00086
    Location:1858 → 1916
    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.
    sd00017
    Location:1193 → 1215
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:2453 → 2496
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00046
    Location:2069 → 2121
    Homeobox; Homeobox domain
    pfam13909
    Location:508 → 532
    zf-H2C2_5; C2H2-type zinc-finger domain
    cl26464
    Location:2207 → 2365
    Atrophin-1; Atrophin-1 family

  3. XM_047431818.1 → XP_047287774.1  zinc finger homeobox protein 2 isoform X1

  4. XM_047431821.1 → XP_047287777.1  zinc finger homeobox protein 2 isoform X1

  5. XM_047431823.1 → XP_047287779.1  zinc finger homeobox protein 2 isoform X4

  6. XM_047431822.1 → XP_047287778.1  zinc finger homeobox protein 2 isoform X3

  7. XM_017021716.3 → XP_016877205.1  zinc finger homeobox protein 2 isoform X1

  8. XM_047431819.1 → XP_047287775.1  zinc finger homeobox protein 2 isoform X1

  9. XM_047431820.1 → XP_047287776.1  zinc finger homeobox protein 2 isoform X1

  10. XM_017021718.3 → XP_016877207.1  zinc finger homeobox protein 2 isoform X7

    UniProtKB/TrEMBL
    B9EK48
    Conserved Domains (4) summary
    cd00086
    Location:808 → 866
    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.
    sd00017
    Location:143 → 165
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:1403 → 1446
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00046
    Location:1019 → 1071
    Homeobox; Homeobox domain

  11. XM_047431825.1 → XP_047287781.1  zinc finger homeobox protein 2 isoform X7

  12. XM_005268135.4 → XP_005268192.1  zinc finger homeobox protein 2 isoform X6

    See identical proteins and their annotated locations for XP_005268192.1

    UniProtKB/TrEMBL
    B9EK48
    Conserved Domains (4) summary
    cd00086
    Location:888 → 946
    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.
    sd00017
    Location:223 → 245
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:1483 → 1526
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00046
    Location:1099 → 1151
    Homeobox; Homeobox domain

  13. XM_011537252.3 → XP_011535554.1  zinc finger homeobox protein 2 isoform X6

    See identical proteins and their annotated locations for XP_011535554.1

    UniProtKB/TrEMBL
    B9EK48
    Conserved Domains (4) summary
    cd00086
    Location:888 → 946
    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.
    sd00017
    Location:223 → 245
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:1483 → 1526
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00046
    Location:1099 → 1151
    Homeobox; Homeobox domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    17721418..17756364 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376839.1 → XP_054232814.1  zinc finger homeobox protein 2 isoform X5

  2. XM_054376836.1 → XP_054232811.1  zinc finger homeobox protein 2 isoform X2

  3. XM_054376832.1 → XP_054232807.1  zinc finger homeobox protein 2 isoform X1

  4. XM_054376835.1 → XP_054232810.1  zinc finger homeobox protein 2 isoform X1

  5. XM_054376838.1 → XP_054232813.1  zinc finger homeobox protein 2 isoform X4

  6. XM_054376837.1 → XP_054232812.1  zinc finger homeobox protein 2 isoform X3

  7. XM_054376831.1 → XP_054232806.1  zinc finger homeobox protein 2 isoform X1

  8. XM_054376833.1 → XP_054232808.1  zinc finger homeobox protein 2 isoform X1

  9. XM_054376834.1 → XP_054232809.1  zinc finger homeobox protein 2 isoform X1

  10. XM_054376843.1 → XP_054232818.1  zinc finger homeobox protein 2 isoform X7

  11. XM_054376842.1 → XP_054232817.1  zinc finger homeobox protein 2 isoform X7

  12. XM_054376840.1 → XP_054232815.1  zinc finger homeobox protein 2 isoform X6

  13. XM_054376841.1 → XP_054232816.1  zinc finger homeobox protein 2 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C0A1.3 GenPept UniProtKB/Swiss-Prot:Q9C0A1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools