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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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