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

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

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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

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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

    Associated conditions

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    Preferred Names
    zinc finger homeobox protein 2
    Names
    ZFH-2
    zinc finger homeodomain protein 2
    zinc finger protein 409

    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)

    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

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