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    LHX4 LIM homeobox 4 [ Homo sapiens (human) ]

    Gene ID: 89884, updated on 17-Jun-2019

    Summary

    Official Symbol
    LHX4provided by HGNC
    Official Full Name
    LIM homeobox 4provided by HGNC
    Primary source
    HGNC:HGNC:21734
    See related
    Ensembl:ENSG00000121454 MIM:602146
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CPHD4
    Summary
    This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in testis (RPKM 1.2), placenta (RPKM 0.8) and 24 other tissues See more
    Orthologs

    Genomic context

    See LHX4 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (180228372..180278984)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (180199433..180244188)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371636 Neighboring gene quiescin sulfhydryl oxidase 1 Neighboring gene LHX4 antisense RNA 1 Neighboring gene acyl-CoA binding domain containing 6 Neighboring gene uncharacterized LOC105371637 Neighboring gene voltage dependent anion channel 1 pseudogene 4

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Pituitary hormone deficiency, combined 4
    MedGen: C2678408 OMIM: 262700 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-07-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

    ClinGen Genome Curation PagePubMed

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22769

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    animal organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    medial motor column neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    motor neuron axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    LIM/homeobox protein Lhx4
    Names
    LIM homeobox protein 4

    NCBI Reference Sequences (RefSeq)

    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

    1. NG_008081.1 RefSeqGene

      Range
      4992..49747
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033343.4NP_203129.1  LIM/homeobox protein Lhx4

      See identical proteins and their annotated locations for NP_203129.1

      Status: REVIEWED

      Source sequence(s)
      AF179849, AL139141, BC011759, BX954266
      Consensus CDS
      CCDS1338.1
      UniProtKB/Swiss-Prot
      Q969G2
      UniProtKB/TrEMBL
      A0A0S2Z5S4
      Related
      ENSP00000263726.2, ENST00000263726.4
      Conserved Domains (3) summary
      cd09376
      Location:89144
      LIM2_Lhx3_Lhx4; The second LIM domain of Lhx3-Lhx4 family
      cd09468
      Location:3081
      LIM1_Lhx4; The first LIM domain of Lhx4
      pfam00046
      Location:160213
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      180228372..180278984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510105.2XP_011508407.1  LIM/homeobox protein Lhx4 isoform X1

      See identical proteins and their annotated locations for XP_011508407.1

      Conserved Domains (3) summary
      cd09376
      Location:2883
      LIM2_Lhx3_Lhx4; The second LIM domain of Lhx3-Lhx4 family
      pfam00046
      Location:99152
      Homeobox; Homeobox domain
      cl02475
      Location:120
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    2. XM_011510106.3XP_011508408.1  LIM/homeobox protein Lhx4 isoform X1

      See identical proteins and their annotated locations for XP_011508408.1

      Conserved Domains (3) summary
      cd09376
      Location:2883
      LIM2_Lhx3_Lhx4; The second LIM domain of Lhx3-Lhx4 family
      pfam00046
      Location:99152
      Homeobox; Homeobox domain
      cl02475
      Location:120
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    3. XM_011510108.2XP_011508410.1  LIM/homeobox protein Lhx4 isoform X2

      See identical proteins and their annotated locations for XP_011508410.1

      Conserved Domains (2) summary
      cd09376
      Location:1469
      LIM2_Lhx3_Lhx4; The second LIM domain of Lhx3-Lhx4 family
      pfam00046
      Location:85138
      Homeobox; Homeobox domain
    4. XM_017002755.1XP_016858244.1  LIM/homeobox protein Lhx4 isoform X2

      Conserved Domains (2) summary
      cd09376
      Location:1469
      LIM2_Lhx3_Lhx4; The second LIM domain of Lhx3-Lhx4 family
      pfam00046
      Location:85138
      Homeobox; Homeobox domain
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