MROH8 maestro heat like repeat family member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MROH8provided by HGNC
Official Full Name: maestro heat like repeat family member 8provided by HGNC
Primary source: HGNC:HGNC:16125
See related: Ensembl:ENSG00000101353 AllianceGenome:HGNC:16125
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
Also known as: C20orf131; C20orf132
Summary: The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer's disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Annotation information: Annotation category: suggests misassembly
Expression: Broad expression in testis (RPKM 12.2), kidney (RPKM 1.8) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.23

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (37101167..37179548, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (38825517..38903925, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (35729570..35807951, complement)

Chromosome 20 - NC_000020.11 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?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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

EBI GWAS Catalog

Description
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Z94666 (e-PCR)
- UniSTS:38958

AL031796 (e-PCR)
- UniSTS:93119

AL031789 (e-PCR)
- UniSTS:93121

WI-17924 (e-PCR)
- UniSTS:51704

Clone Names

FLJ36113, dJ621N11.3, dJ621N11.4, DKFZp434N0426

General protein information

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Preferred Names: protein MROH8

Names: maestro heat-like repeat-containing protein family member 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.

Genomic

NG_033795.2 RefSeqGene

Range

5001..83411

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_152503.8 → NP_689716.4 protein MROH8 isoform 1

See identical proteins and their annotated locations for NP_689716.4

Status: REVIEWED

Description

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

Source sequence(s)

ABBA01006615, AL031659, AL136172

UniProtKB/TrEMBL

A0A8V8TLY2, A0AAG2UW59

Related

ENSP00000513568.1, ENST00000343811.10
NM_213631.3 → NP_998796.1 protein MROH8 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs at the 3' end compared to variant 1. The encoded isoform (2) is shorter with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AK093432, AL136172, BC030006, BC057767

UniProtKB/TrEMBL

A0AAG2UW82, Q6PF12

Related

ENSP00000513569.1, ENST00000400440.7
NM_213632.3 → NP_998797.2 protein MROH8 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame coding exon and differs at the 3' end compared to variant 1. The encoded isoform (3) is shorter lacking an internal protein segment and with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AK093432, AL136172, BC057767

UniProtKB/TrEMBL

A0A8V8TLF2, A0AAG2UWF2

Related

ENSP00000513570.1, ENST00000421643.2