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Phf24 PHD finger protein 24 [ Mus musculus (house mouse) ]

Gene ID: 230085, updated on 21-Apr-2024

Summary

Official Symbol
Phf24provided by MGI
Official Full Name
PHD finger protein 24provided by MGI
Primary source
MGI:MGI:2140712
See related
Ensembl:ENSMUSG00000036062 AllianceGenome:MGI:2140712
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
GINIP
Summary
Predicted to enable metal ion binding activity. Acts upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of pain; gamma-aminobutyric acid signaling pathway; and regulation of GABAergic synaptic transmission. Is expressed in male reproductive gland or organ; nervous system; retina; and small intestine. Orthologous to human PHF24 (PHD finger protein 24). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in cortex adult (RPKM 28.7), frontal lobe adult (RPKM 19.6) and 4 other tissues See more
Orthologs
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Genomic context

Location:
4 A5; 4 22.91 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (42872619..42944752)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (42872618..42944752)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930578G10 gene Neighboring gene predicted gene 9615 Neighboring gene spermatogenesis associated 31 subfamily F member 1A Neighboring gene STARR-seq mESC enhancer starr_10042 Neighboring gene spermatogenesis associated 31 subfamily F member 3 Neighboring gene predicted gene, 52697 Neighboring gene STARR-positive B cell enhancer ABC_E660 Neighboring gene DnaJ heat shock protein family (Hsp40) member B5 Neighboring gene SPATA31 subfamily G member 1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA1045, A230025O18

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in synaptic vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in synaptic vesicle membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 

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_001346526.1NP_001333455.1  PHD finger protein 24 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Variants 1, 3, 4 and 6 encode the same isoform (1).
    Source sequence(s)
    AL672276, AL772334, CJ250336
    Consensus CDS
    CCDS84719.1
    UniProtKB/Swiss-Prot
    A2AG28, Q80TL4, Q8BH08
    Conserved Domains (1) summary
    pfam16744
    Location:126198
    Zf_RING; KIAA1045 RING finger
  2. NM_001355693.1NP_001342622.1  PHD finger protein 24 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 3, 4 and 6 encode the same isoform (1).
    Source sequence(s)
    AK045544, AK138412, AW456637, BC057092, BM944560, BY289608, BY289935, CA327828, CJ114289, CX243634
    Consensus CDS
    CCDS84719.1
    UniProtKB/Swiss-Prot
    A2AG28, Q80TL4, Q8BH08
    Related
    ENSMUSP00000103609.2, ENSMUST00000107975.8
    Conserved Domains (1) summary
    pfam16744
    Location:126198
    Zf_RING; KIAA1045 RING finger
  3. NM_001355694.1NP_001342623.1  PHD finger protein 24 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 3, 4 and 6 encode the same isoform (1).
    Source sequence(s)
    AK045544, AK138412, AL672276, AW456637, BC057092, CJ107729
    Consensus CDS
    CCDS84719.1
    UniProtKB/Swiss-Prot
    A2AG28, Q80TL4, Q8BH08
    Conserved Domains (1) summary
    pfam16744
    Location:126198
    Zf_RING; KIAA1045 RING finger
  4. NM_001355695.1NP_001342624.1  PHD finger protein 24 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and uses alternate in-frame splice sites in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal in-frame segment, and is shorter, compared to isoform 1. Variants 2 and 5 encode the same isoform (2).
    Source sequence(s)
    AK038528, AK045544, AK138412, AW456637, CJ107729
    Consensus CDS
    CCDS18083.1
    Related
    ENSMUSP00000071011.3, ENSMUST00000069184.9
    Conserved Domains (1) summary
    pfam16744
    Location:89161
    Zf_RING; KIAA1045 RING finger
  5. NM_001374110.1NP_001361039.1  PHD finger protein 24 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1, 3, 4 and 6 encode the same isoform (1)
    Source sequence(s)
    AL672276
    UniProtKB/Swiss-Prot
    A2AG28, Q80TL4, Q8BH08
    Conserved Domains (1) summary
    pfam16744
    Location:126198
    Zf_RING; KIAA1045 RING finger
  6. NM_172690.3NP_766278.1  PHD finger protein 24 isoform 2

    See identical proteins and their annotated locations for NP_766278.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses alternate in-frame splice sites in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal in-frame segment, and is shorter, compared to isoform 1. Variants 2 and 5 encode the same isoform (2).
    Source sequence(s)
    AK045544, AK138412, AW456637, BC057092, CJ107729
    Consensus CDS
    CCDS18083.1
    UniProtKB/Swiss-Prot
    Q80TL4
    Related
    ENSMUSP00000103610.3, ENSMUST00000107976.9
    Conserved Domains (1) summary
    pfam16744
    Location:89161
    Zf_RING; KIAA1045 RING finger

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    42872619..42944752
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030253408.2XP_030109268.1  PHD finger protein 24 isoform X2

    UniProtKB/Swiss-Prot
    A2AG28, Q80TL4, Q8BH08
    Conserved Domains (1) summary
    pfam16744
    Location:126198
    Zf_RING; KIAA1045 RING finger
  2. XM_030253409.2XP_030109269.1  PHD finger protein 24 isoform X2

    UniProtKB/Swiss-Prot
    A2AG28, Q80TL4, Q8BH08
    Conserved Domains (1) summary
    pfam16744
    Location:126198
    Zf_RING; KIAA1045 RING finger
  3. XM_030253410.2XP_030109270.1  PHD finger protein 24 isoform X4

    Conserved Domains (1) summary
    pfam16744
    Location:89161
    Zf_RING; KIAA1045 RING finger
  4. XM_017320124.3XP_017175613.1  PHD finger protein 24 isoform X4

    UniProtKB/Swiss-Prot
    Q80TL4
    Conserved Domains (1) summary
    pfam16744
    Location:89161
    Zf_RING; KIAA1045 RING finger
  5. XM_036163987.1XP_036019880.1  PHD finger protein 24 isoform X5

    UniProtKB/TrEMBL
    F6SBE4
    Conserved Domains (1) summary
    pfam16744
    Location:167
    Zf_RING; KIAA1045 RING finger
  6. XM_030253411.1XP_030109271.1  PHD finger protein 24 isoform X5

    UniProtKB/TrEMBL
    F6SBE4
    Conserved Domains (1) summary
    pfam16744
    Location:167
    Zf_RING; KIAA1045 RING finger
  7. XM_006537819.4XP_006537882.1  PHD finger protein 24 isoform X4

    See identical proteins and their annotated locations for XP_006537882.1

    UniProtKB/Swiss-Prot
    Q80TL4
    Conserved Domains (1) summary
    pfam16744
    Location:89161
    Zf_RING; KIAA1045 RING finger
  8. XM_006537809.4XP_006537872.1  PHD finger protein 24 isoform X1

    Conserved Domains (1) summary
    pfam16744
    Location:157229
    Zf_RING; KIAA1045 RING finger
  9. XM_017320123.3XP_017175612.1  PHD finger protein 24 isoform X3

    Conserved Domains (1) summary
    pfam16744
    Location:99171
    Zf_RING; KIAA1045 RING finger