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    ANHX anomalous homeobox [ Homo sapiens (human) ]

    Gene ID: 647589, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ANHXprovided by HGNC
    Official Full Name
    anomalous homeoboxprovided by HGNC
    Primary source
    HGNC:HGNC:40024
    See related
    Ensembl:ENSG00000227059 AllianceGenome:HGNC:40024
    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
    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 eye development and regulation of transcription by RNA polymerase II. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 2.0) See more
    Orthologs
    all
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    Genomic context

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    Location:
    12q24.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (133218312..133235877, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (133275564..133293187, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (133794898..133812463, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7400 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26228 Neighboring gene zinc finger protein 10 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:133731795-133732994 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26242 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:133757799-133758323 Neighboring gene zinc finger protein 268 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:133817301-133817460 Neighboring gene RNA, U6 small nuclear 717, pseudogene

    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
    • 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. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    General gene information

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    Markers

    Homology

    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 RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of skeletal muscle cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal muscle fiber development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    anomalous homeobox protein

    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_001191054.1 → NP_001177983.1  anomalous homeobox protein isoform 2

      See identical proteins and their annotated locations for NP_001177983.1

      Status: VALIDATED

      Source sequence(s)
      AC226150, AK057223, DB032853
      Consensus CDS
      CCDS53855.1
      UniProtKB/Swiss-Prot
      E9PGG2, Q96MC1
      Related
      ENSP00000409950.1, ENST00000419717.3
      Conserved Domains (2) summary
      cd00086
      Location:139 → 193
      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.
      pfam16878
      Location:79 → 130
      SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

    2. NM_001372060.1 → NP_001358989.1  anomalous homeobox protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC226150
      Consensus CDS
      CCDS91786.1
      UniProtKB/TrEMBL
      A0A6E1YDD0
      Related
      ENSP00000439513.2, ENST00000545940.6
      Conserved Domains (2) summary
      cd00086
      Location:139 → 193
      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.
      pfam16878
      Location:79 → 130
      SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      133218312..133235877 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534822.4 → XP_011533124.1  anomalous homeobox protein isoform X2

      Conserved Domains (2) summary
      cd00086
      Location:139 → 193
      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.
      pfam16878
      Location:79 → 130
      SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

    2. XM_006719743.5 → XP_006719806.1  anomalous homeobox protein isoform X1

      See identical proteins and their annotated locations for XP_006719806.1

      Conserved Domains (2) summary
      cd00086
      Location:139 → 193
      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.
      pfam16878
      Location:79 → 130
      SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

    3. XM_011534818.3 → XP_011533120.1  anomalous homeobox protein isoform X1

      See identical proteins and their annotated locations for XP_011533120.1

      Conserved Domains (2) summary
      cd00086
      Location:139 → 193
      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.
      pfam16878
      Location:79 → 130
      SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

    4. XM_011534825.3 → XP_011533127.1  anomalous homeobox protein isoform X4

      Conserved Domains (2) summary
      cd00086
      Location:139 → 193
      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.
      pfam16878
      Location:79 → 130
      SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

    5. XM_011534823.3 → XP_011533125.1  anomalous homeobox protein isoform X3

      See identical proteins and their annotated locations for XP_011533125.1

      Conserved Domains (2) summary
      cd00086
      Location:139 → 193
      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.
      pfam16878
      Location:79 → 130
      SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

    6. XM_011534824.3 → XP_011533126.1  anomalous homeobox protein isoform X3

      See identical proteins and their annotated locations for XP_011533126.1

      Conserved Domains (2) summary
      cd00086
      Location:139 → 193
      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.
      pfam16878
      Location:79 → 130
      SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

    RNA

    1. XR_941396.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      133275564..133293187 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372908.1 → XP_054228883.1  anomalous homeobox protein isoform X2

    2. XM_054372906.1 → XP_054228881.1  anomalous homeobox protein isoform X1

    3. XM_054372907.1 → XP_054228882.1  anomalous homeobox protein isoform X1

    4. XM_054372911.1 → XP_054228886.1  anomalous homeobox protein isoform X4

    5. XM_054372909.1 → XP_054228884.1  anomalous homeobox protein isoform X3

    6. XM_054372910.1 → XP_054228885.1  anomalous homeobox protein isoform X3

    RNA

    1. XR_008488663.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E9PGG2.1 GenPept UniProtKB/Swiss-Prot:E9PGG2

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