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PHF24 PHD finger protein 24 [ Homo sapiens (human) ]

Gene ID: 23349, updated on 13-Mar-2020

Summary

Official Symbol
PHF24provided by HGNC
Official Full Name
PHD finger protein 24provided by HGNC
Primary source
HGNC:HGNC:29180
See related
Ensembl:ENSG00000122733
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
Expression
Biased expression in brain (RPKM 19.5) and testis (RPKM 9.9) See more
Orthologs

Genomic context

See PHF24 in Genome Data Viewer
Location:
9p13.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (34810040..34982544)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34957484..34982541)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene C-C motif chemokine ligand 21 Neighboring gene family with sequence similarity 205 member A Neighboring gene transmembrane protein C9orf144B pseudogene Neighboring gene family with sequence similarity 205 member C Neighboring gene glutamate-ammonia ligase pseudogene 4 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 8519 Neighboring gene DNAJB5 divergent transcript Neighboring gene DnaJ heat shock protein family (Hsp40) member B5

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

General gene information

Markers

Homology

Clone Names

  • KIAA1045, DKFZp434I2112

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
detection of mechanical stimulus involved in sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic transmission, GABAergic IEA
Inferred from Electronic Annotation
more info
 

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_052851.1 RefSeqGene

    Range
    5001..30058
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001304333.3NP_001291262.1  PHD finger protein 24 isoform 1

    See identical proteins and their annotated locations for NP_001291262.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 5. The encoded isoform (1) is shorter than isoform 2. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AK294342, AL355377, BC041169
    Consensus CDS
    CCDS43796.1
    UniProtKB/Swiss-Prot
    Q9UPV7
    Conserved Domains (1) summary
    pfam16744
    Location:126198
    Zf_RING; KIAA1045 RING finger
  2. NM_001347982.1NP_001334911.1  PHD finger protein 24 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) encodes the longer isoform (2). Variants 5 and 6 encode the same isoform.
    Source sequence(s)
    AL355377
  3. NM_001347983.2NP_001334912.1  PHD finger protein 24 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 5. Variants 5 and 6 encode the same isoform (2).
    Source sequence(s)
    AL355377
  4. NM_015297.3NP_056112.1  PHD finger protein 24 isoform 1

    See identical proteins and their annotated locations for NP_056112.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 5. The encoded isoform (1) is shorter than isoform 2. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AB028968, AL355377, BC041169
    Consensus CDS
    CCDS43796.1
    UniProtKB/Swiss-Prot
    Q9UPV7
    Related
    ENSP00000242315.3, ENST00000242315.3
    Conserved Domains (1) summary
    pfam16744
    Location:126198
    Zf_RING; KIAA1045 RING finger

RNA

  1. NR_136307.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK294342, AL355377, BC041169
  2. NR_136308.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL355377, BC041169

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    34810040..34982544
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517827.1XP_011516129.1  PHD finger protein 24 isoform X1

    Conserved Domains (1) summary
    pfam16744
    Location:131203
    Zf_RING; KIAA1045 RING finger
  2. XM_017014554.1XP_016870043.1  PHD finger protein 24 isoform X1

    Conserved Domains (1) summary
    pfam16744
    Location:131203
    Zf_RING; KIAA1045 RING finger
  3. XM_017014555.1XP_016870044.1  PHD finger protein 24 isoform X1

    Conserved Domains (1) summary
    pfam16744
    Location:131203
    Zf_RING; KIAA1045 RING finger
  4. XM_017014553.2XP_016870042.1  PHD finger protein 24 isoform X1

    Conserved Domains (1) summary
    pfam16744
    Location:131203
    Zf_RING; KIAA1045 RING finger
  5. XM_017014556.1XP_016870045.1  PHD finger protein 24 isoform X1

    Conserved Domains (1) summary
    pfam16744
    Location:131203
    Zf_RING; KIAA1045 RING finger
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