TPRX2 tetrapeptide repeat homeobox 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TPRX2provided by HGNC
Official Full Name: tetrapeptide repeat homeobox 2provided by HGNC
Primary source: HGNC:HGNC:32175
See related: Ensembl:ENSG00000259009 MIM:620360; AllianceGenome:HGNC:32175
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
Also known as: TPRX2P; TPRXP1; TPRX2P1
Summary: Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]
Orthologs: all
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Genomic context

Location:: 19q13.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (47859235..47861721)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (50690160..50692646)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (48362492..48364978)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in maternal-to-zygotic transition of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tetrapeptide repeat homeobox protein 2

Names: Tetrapeptide repeat homeobox protein 2; tetra-peptide repeat homeobox 1 pseudogene; tetra-peptide repeat homeobox 2 pseudogene; tetra-peptide repeat homeobox pseudogene 1; tetrapeptide repeat homeobox 2, pseudogene

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_001397347.2 → NP_001384276.1 tetrapeptide repeat homeobox protein 2 isoform 1

Status: VALIDATED

Source sequence(s)

AC024582

Consensus CDS

CCDS92655.1

UniProtKB/Swiss-Prot

P0DV77

UniProtKB/TrEMBL

D2CFI4

Related

ENSP00000514106.1, ENST00000535362.3
NM_001397348.2 → NP_001384277.1 tetrapeptide repeat homeobox protein 2 isoform 2

Status: VALIDATED

Source sequence(s)

AC024582

Conserved Domains (2) summary

smart00389
Location:2 → 19

HOX; Homeodomain

COG5576
Location:1 → 42

COG5576; Homeodomain-containing transcription factor [Transcription]
NM_001397349.2 → NP_001384278.1 tetrapeptide repeat homeobox protein 2 isoform 3

Status: VALIDATED

Source sequence(s)

AC024582

Consensus CDS

CCDS92656.1

UniProtKB/TrEMBL

A0A8V8TNP4

Related

ENSP00000514348.1, ENST00000699383.1

Conserved Domains (1) summary

cd00086
Location:21 → 66

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.