TTC22 tetratricopeptide repeat domain 22 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TTC22provided by HGNC
Official Full Name: tetratricopeptide repeat domain 22provided by HGNC
Primary source: HGNC:HGNC:26067
See related: Ensembl:ENSG00000006555 AllianceGenome:HGNC:26067
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]
Expression: Biased expression in esophagus (RPKM 8.5), colon (RPKM 4.0) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p32.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (54779712..54801323, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (54659937..54681544, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (55245385..55266996, complement)

Chromosome 1 - NC_000001.11 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 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?

Revealing PACMA 31 as a new chemical type TrxR inhibitor to promote cancer cell apoptosis.
Title: Revealing PACMA 31 as a new chemical type TrxR inhibitor to promote cancer cell apoptosis.
Study results suggest that TTC22 variant 1 (TTC22V1) mRNA is a crucial miR663a target that directly promotes colon cancer cell migration/invasion. High TTC22V1 expression is a significant poor survival factor for patients with colon cancer.
Title: miR663a‑TTC22V1 axis inhibits colon cancer metastasis.

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

D1S3129 (e-PCR)
- UniSTS:62994

NoName (e-PCR)
- UniSTS:485721

AF021110 (e-PCR)
- UniSTS:24279

General protein information

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Preferred Names: tetratricopeptide repeat protein 22

Names: TPR repeat protein 22

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.

Genomic

NG_029054.2 RefSeqGene

Range

5000..26611

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001114108.2 → NP_001107580.1 tetratricopeptide repeat protein 22 isoform 1

See identical proteins and their annotated locations for NP_001107580.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC096536, AL139244

Consensus CDS

CCDS44152.1

UniProtKB/Swiss-Prot

Q5TAA0, Q9NWT4

Related

ENSP00000360323.4, ENST00000371276.9

Conserved Domains (1) summary

sd00006
Location:65 → 95

TPR; TPR repeat [structural motif]
NM_017904.4 → NP_060374.2 tetratricopeptide repeat protein 22 isoform 2

See identical proteins and their annotated locations for NP_060374.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AC096536, AL139244

Consensus CDS

CCDS598.1

UniProtKB/Swiss-Prot

Q5TAA0

Related

ENSP00000360321.4, ENST00000371274.8

Conserved Domains (1) summary

sd00006
Location:65 → 95

TPR; TPR repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

54779712..54801323 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011541671.3 → XP_011539973.1 tetratricopeptide repeat protein 22 isoform X1

Conserved Domains (1) summary

sd00006
Location:294 → 324

TPR; TPR repeat [structural motif]
XM_017001582.2 → XP_016857071.1 tetratricopeptide repeat protein 22 isoform X2