FAM117B family with sequence similarity 117 member B [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAM117Bprovided by HGNC
Official Full Name: family with sequence similarity 117 member Bprovided by HGNC
Primary source: HGNC:HGNC:14440
See related: Ensembl:ENSG00000138439 AllianceGenome:HGNC:14440
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: ALS2CR13
Expression: Ubiquitous expression in testis (RPKM 4.9), adrenal (RPKM 4.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q33.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (202634969..202769757)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (203116388..203251211)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (203499692..203634480)

Chromosome 2 - NC_000002.12 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?

FAM117B promotes gastric cancer growth and drug resistance by targeting the KEAP1/NRF2 signaling pathway.
Title: FAM117B promotes gastric cancer growth and drug resistance by targeting the KEAP1/NRF2 signaling pathway.

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
Discovery and refinement of loci associated with lipid levels. 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

RH16624 (e-PCR)
- UniSTS:13596

SHGC-33812 (e-PCR)
- UniSTS:13597

G54492 (e-PCR)
- UniSTS:140857

NoName (e-PCR)
- UniSTS:486497

ALS2CR13__4285 (e-PCR)
- UniSTS:463232

G64430 (e-PCR)
- UniSTS:163772

AF044685 (e-PCR)
- UniSTS:43965

RH102151 (e-PCR)
- UniSTS:96485

G54491 (e-PCR)
- UniSTS:140794

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: protein FAM117B

Names: amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 13 protein

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.