THAP8 THAP domain containing 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: THAP8provided by HGNC
Official Full Name: THAP domain containing 8provided by HGNC
Primary source: HGNC:HGNC:23191
See related: Ensembl:ENSG00000161277 MIM:612536; AllianceGenome:HGNC:23191
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: Predicted to enable DNA binding activity and metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 4.3), endometrium (RPKM 2.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (36034984..36054762, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38580785..38600561, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36525886..36545664, complement)

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

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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

THAP8__5251 (e-PCR)
- UniSTS:468748

RH15953 (e-PCR)
- UniSTS:75567

D19S224 (e-PCR)
- UniSTS:7529

D19S224 (e-PCR)
- UniSTS:2555

Homology

Homologs of the THAP8 gene: The THAP8 gene is conserved in chimpanzee, Rhesus monkey, dog, and cow.
Orthologs from Annotation Pipeline: 181 organisms have orthologs with human gene THAP8
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: THAP domain-containing protein 8

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_001331102.2 → NP_001318031.1 THAP domain-containing protein 8 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC002116, AD000813, JQ410992

UniProtKB/TrEMBL

H9CWI5
NM_001331103.2 → NP_001318032.1 THAP domain-containing protein 8 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).

Source sequence(s)

AC002116, AK296640, JQ410992

UniProtKB/TrEMBL

B4DKM9, H9CWI5
NM_001331104.1 → NP_001318033.1 THAP domain-containing protein 8 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate splice junction compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).

Source sequence(s)

AC002116, AD000813

UniProtKB/TrEMBL

B4DKM9
NM_152658.3 → NP_689871.1 THAP domain-containing protein 8 isoform a

See identical proteins and their annotated locations for NP_689871.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC002116, AK093048

Consensus CDS

CCDS33000.1

UniProtKB/Swiss-Prot

Q8NA92, Q96M21

Related

ENSP00000292894.1, ENST00000292894.2

Conserved Domains (1) summary

smart00980
Location:4 → 86

THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion

RNA

NR_138539.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC002116, AK297630, JQ410992