PHF14 PHD finger protein 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PHF14provided by HGNC
Official Full Name: PHD finger protein 14provided by HGNC
Primary source: HGNC:HGNC:22203
See related: Ensembl:ENSG00000106443 MIM:619907; AllianceGenome:HGNC:22203
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: Enables histone binding activity. Predicted to be involved in several processes, including germinal center B cell differentiation; lung development; and negative regulation of mesenchymal cell proliferation involved in lung development. Located in chromatin; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in brain (RPKM 4.6), endometrium (RPKM 2.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p21.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (10973872..11169618)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (11104462..11300224)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (11013499..11209245)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SP4 Facilitates Esophageal Squamous Cell Carcinoma Progression by Activating PHF14 Transcription and Wnt/Beta-Catenin Signaling.
Title: SP4 Facilitates Esophageal Squamous Cell Carcinoma Progression by Activating PHF14 Transcription and Wnt/Β-Catenin Signaling.
The high mobility group protein HMG20A cooperates with the histone reader PHF14 to modulate TGFbeta and Hippo pathways.
Title: The high mobility group protein HMG20A cooperates with the histone reader PHF14 to modulate TGFβ and Hippo pathways.
PHF14 knockdown causes apoptosis by inducing DNA damage and impairing the activity of the damage response complex in colorectal cancer.
Title: PHF14 knockdown causes apoptosis by inducing DNA damage and impairing the activity of the damage response complex in colorectal cancer.
PHF14 Promotes Cell Proliferation and Migration through the AKT and ERK1/2 Pathways in Gastric Cancer Cells.
Title: PHF14 Promotes Cell Proliferation and Migration through the AKT and ERK1/2 Pathways in Gastric Cancer Cells.
Study revealed that miR-590 was shown to directly target PHF14 thus affecting thus affecting bladder neoplasm cellular epithelial-mesenchymal transition.
Title: LINC00612 enhances the proliferation and invasion ability of bladder cancer cells as ceRNA by sponging miR-590 to elevate expression of PHF14.
High PHF14 expression is associated with lung cancer.
Title: A novel PHD-finger protein 14/KIF4A complex overexpressed in lung cancer is involved in cell mitosis regulation and tumorigenesis.
Results show that marker rs218966 in gene PHF14 and rs9836027 in MAP4 significantly associated with hypertension; additionally, rare variants in SNUPN significantly associated with systolic blood pressure.
Title: Filtering genetic variants and placing informative priors based on putative biological function.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-106709 (e-PCR)
- UniSTS:169996

SHGC-55967 (e-PCR)
- UniSTS:19231

PHF14 (e-PCR)
- UniSTS:503598

D8S2279 (e-PCR)
- UniSTS:473907

RH121392 (e-PCR)
- UniSTS:134238

RH104077 (e-PCR)
- UniSTS:98402

D15S1477 (e-PCR)
- UniSTS:474482

GDB:1317854 (e-PCR)
- UniSTS:43128

SHGC-55963 (e-PCR)
- UniSTS:31102

RH66124 (e-PCR)
- UniSTS:77520

RH91940 (e-PCR)
- UniSTS:85970

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone binding	IDA Inferred from Direct Assay more info	PubMed
enables histone reader activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in germinal center B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in lung alveolus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesenchymal cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesenchymal cell proliferation involved in lung development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of mesenchymal cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of mesenchymal cell proliferation involved in lung development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of platelet-derived growth factor receptor-alpha signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: PHD finger protein 14

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)

NM_001007157.2 → NP_001007158.1 PHD finger protein 14 isoform 1

Status: VALIDATED

Source sequence(s)

AA699404, AA837024, AB018326, AK294419, BM834437

UniProtKB/Swiss-Prot

A0A0U1RRH6, A7MCZ3, B4DI82, O94880

Related

ENSP00000489535.1, ENST00000634607.2

Conserved Domains (4) summary

cd15561
Location:321 → 377

PHD1_PHF14; PHD finger 1 found in PHD finger protein 14 (PHF14) and similar proteins

cd15562
Location:727 → 776

PHD2_PHF14; PHD finger 2 found in PHD finger protein 14 (PHF14) and similar proteins

cd15563
Location:870 → 918

PHD3_PHF14; PHD finger 3 found in PHD finger protein 14 (PHF14) and similar proteins

cd15674
Location:385 → 498

ePHD_PHF14; Extended PHD finger found in PHD finger protein 14 (PHF14) and similar proteins
NM_014660.4 → NP_055475.2 PHD finger protein 14 isoform 2

See identical proteins and their annotated locations for NP_055475.2

Status: VALIDATED

Source sequence(s)

AC005007, AK294419, BC152414, BM834437, DB359297

Consensus CDS

CCDS47542.1

UniProtKB/Swiss-Prot

O94880

UniProtKB/TrEMBL

B4DG57

Related

ENSP00000385795.3, ENST00000403050.7

Conserved Domains (3) summary

cd15561
Location:321 → 377

PHD1_PHF14; PHD finger 1 found in PHD finger protein 14 (PHF14) and similar proteins

cd15562
Location:727 → 776

PHD2_PHF14; PHD finger 2 found in PHD finger protein 14 (PHF14) and similar proteins

cd15674
Location:385 → 498

ePHD_PHF14; Extended PHD finger found in PHD finger protein 14 (PHF14) and similar proteins

RNA

NR_033435.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC005007, AK294419, DB359297

Related

ENST00000642461.1
NR_033436.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) has multiple differences, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK294419, AK295461, BG182843

Related

ENST00000423760.6