FAM171B family with sequence similarity 171 member B [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAM171Bprovided by HGNC
Official Full Name: family with sequence similarity 171 member Bprovided by HGNC
Primary source: HGNC:HGNC:29412
See related: Ensembl:ENSG00000144369 MIM:620309; AllianceGenome:HGNC:29412
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: KIAA1946
Summary: Predicted to be located in membrane. Predicted to be active in synapse. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in brain (RPKM 53.2), adrenal (RPKM 8.4) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q32.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (186694060..186765959)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (187183195..187255094)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (187558787..187630686)

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?

FAM171B stabilizes vimentin and enhances CCL2-mediated TAM infiltration to promote bladder cancer progression.
Title: FAM171B stabilizes vimentin and enhances CCL2-mediated TAM infiltration to promote bladder cancer progression.
FAM171B is a novel polyglutamine protein widely expressed in the mammalian brain.
Title: FAM171B is a novel polyglutamine protein widely expressed in the mammalian brain.
FAM171B expression is up-regulated in oxaliplatin-resistant colorectal cancer cell line. Transfection of miR-483-3p mimics markedly decreases the levels of FAM171B and restores oxaliplatin responsiveness, and this alteration enhances cell apoptosis and weakens cell migration. Knockdown of FAM171B in oxaliplatin-resistant colorectal cancer cell line sensitizes its reaction of the treatment with oxaliplatin.
Title: MiR-483-3p regulates oxaliplatin resistance by targeting FAM171B in human colorectal cancer cells.

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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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Markers

D2S2500 (e-PCR)
- UniSTS:69395

WI-11078 (e-PCR)
- UniSTS:39966

SHGC-85093 (e-PCR)
- UniSTS:103473

WI-17454 (e-PCR)
- UniSTS:22346

D2S225 (e-PCR)
- UniSTS:148115

D2S2028 (e-PCR)
- UniSTS:27373

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein FAM171B

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.