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PHTF2 putative homeodomain transcription factor 2 [ Homo sapiens (human) ]

Gene ID: 57157, updated on 21-Dec-2019

Summary

Official Symbol
PHTF2provided by HGNC
Official Full Name
putative homeodomain transcription factor 2provided by HGNC
Primary source
HGNC:HGNC:13411
See related
Ensembl:ENSG00000006576 MIM:616785
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
Ubiquitous expression in lymph node (RPKM 6.3), appendix (RPKM 5.5) and 25 other tissues See more
Orthologs

Genomic context

See PHTF2 in Genome Data Viewer
Location:
7q11.23-q21.11
Exon count:
22
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (77798773..77957504)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (77428109..77586821)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene round spermatid basic protein 1 like Neighboring gene Alu-mediated CDKN1A/p21 transcriptional regulator Neighboring gene transmembrane protein 60 Neighboring gene uncharacterized LOC105375368 Neighboring gene membrane associated guanylate kinase, WW and PDZ domain containing 2 Neighboring gene ribosomal protein L13a pseudogene 17

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

Phenotypes

NHGRI GWAS Catalog

Description
GWAS of dental caries patterns in the permanent dentition.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33324, MGC86999, DKFZp564F013

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
putative homeodomain transcription factor 2

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.

mRNA and Protein(s)

  1. NM_001127357.2NP_001120829.1  putative homeodomain transcription factor 2 isoform 1

    See identical proteins and their annotated locations for NP_001120829.1

    Status: VALIDATED

    Source sequence(s)
    AC073520, AL136883, BC022419, BC127093, CB051673
    Consensus CDS
    CCDS47621.1
    UniProtKB/Swiss-Prot
    Q8N3S3
    Conserved Domains (1) summary
    pfam12129
    Location:5156
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  2. NM_001127358.2NP_001120830.1  putative homeodomain transcription factor 2 isoform 2

    See identical proteins and their annotated locations for NP_001120830.1

    Status: VALIDATED

    Source sequence(s)
    AC004955, AK225854, AL136883, BP321440, CB051673
    Consensus CDS
    CCDS47622.1
    UniProtKB/Swiss-Prot
    Q8N3S3
    Related
    ENSP00000307699.8, ENST00000307305.12
    Conserved Domains (1) summary
    pfam12129
    Location:5152
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  3. NM_001127359.1NP_001120831.1  putative homeodomain transcription factor 2 isoform 3

    See identical proteins and their annotated locations for NP_001120831.1

    Status: VALIDATED

    Source sequence(s)
    BC022419, BE880432, BP395569
    Consensus CDS
    CCDS47623.1
    UniProtKB/Swiss-Prot
    Q8N3S3
    Related
    ENSP00000387355.1, ENST00000450574.5
    Conserved Domains (1) summary
    pfam12129
    Location:5156
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  4. NM_001127360.1NP_001120832.1  putative homeodomain transcription factor 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    BC022419, BC067742, BE880432, BP321440, BP395569
    Consensus CDS
    CCDS47624.1
    UniProtKB/Swiss-Prot
    Q8N3S3
    Related
    ENSP00000408035.2, ENST00000415251.6
    Conserved Domains (1) summary
    pfam12129
    Location:5152
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  5. NM_001366081.1NP_001353010.1  putative homeodomain transcription factor 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC004955, AC004990, AL136883
    Related
    ENSP00000275575.7, ENST00000275575.11
    Conserved Domains (1) summary
    pfam12129
    Location:5152
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  6. NM_001366082.2NP_001353011.1  putative homeodomain transcription factor 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC004955, AK090643, BQ014377
    Related
    ENSP00000403620.1, ENST00000424760.5
    Conserved Domains (1) summary
    pfam12129
    Location:5152
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  7. NM_001366083.1NP_001353012.1  putative homeodomain transcription factor 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC004955, AC004990, AC073520
    Conserved Domains (1) summary
    pfam12129
    Location:5152
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  8. NM_001366084.1NP_001353013.1  putative homeodomain transcription factor 2 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC004955, AC004990, AC073520
    Conserved Domains (1) summary
    pfam12129
    Location:5152
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  9. NM_001366085.2NP_001353014.1  putative homeodomain transcription factor 2 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC004955, AC004990, AC073520
    Conserved Domains (1) summary
    pfam12129
    Location:5152
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  10. NM_001366086.1NP_001353015.1  putative homeodomain transcription factor 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC004955, AC004990, AC073520
    Conserved Domains (1) summary
    pfam12129
    Location:5152
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  11. NM_001366087.1NP_001353016.1  putative homeodomain transcription factor 2 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC004955, AC004990, AC073520
    Conserved Domains (1) summary
    pfam12129
    Location:5152
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  12. NM_001366088.2NP_001353017.1  putative homeodomain transcription factor 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC004955, AC004990, AC073520
    Conserved Domains (1) summary
    pfam12129
    Location:5152
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  13. NM_001366089.1NP_001353018.1  putative homeodomain transcription factor 2 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC004990, AC073520
    Related
    ENSP00000248550.7, ENST00000248550.7
    Conserved Domains (1) summary
    pfam12129
    Location:5190
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  14. NM_020432.5NP_065165.3  putative homeodomain transcription factor 2 isoform 2

    See identical proteins and their annotated locations for NP_065165.3

    Status: VALIDATED

    Source sequence(s)
    AC073520, AL136883, BC022419, BC127094, CB051673
    Consensus CDS
    CCDS47622.1
    UniProtKB/Swiss-Prot
    Q8N3S3
    Conserved Domains (1) summary
    pfam12129
    Location:5152
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    77798773..77957504
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250508.5XP_005250565.1  putative homeodomain transcription factor 2 isoform X1

    See identical proteins and their annotated locations for XP_005250565.1

    UniProtKB/Swiss-Prot
    Q8N3S3
    Related
    ENSP00000403042.2, ENST00000422959.6
    Conserved Domains (1) summary
    pfam12129
    Location:5156
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  2. XM_011516422.3XP_011514724.1  putative homeodomain transcription factor 2 isoform X4

    Conserved Domains (1) summary
    pfam12129
    Location:5156
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  3. XM_006716063.4XP_006716126.1  putative homeodomain transcription factor 2 isoform X3

    Conserved Domains (1) summary
    pfam12129
    Location:5156
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  4. XM_011516423.3XP_011514725.1  putative homeodomain transcription factor 2 isoform X6

    Conserved Domains (1) summary
    pfam12129
    Location:5156
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  5. XM_017012459.2XP_016867948.1  putative homeodomain transcription factor 2 isoform X7

  6. XM_005250509.4XP_005250566.1  putative homeodomain transcription factor 2 isoform X1

    See identical proteins and their annotated locations for XP_005250566.1

    UniProtKB/Swiss-Prot
    Q8N3S3
    Conserved Domains (1) summary
    pfam12129
    Location:5156
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
  7. XM_011516424.2XP_011514726.1  putative homeodomain transcription factor 2 isoform X8

    Conserved Domains (1) summary
    pfam12129
    Location:115
    Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
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