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

Gene ID: 165215, updated on 27-Nov-2024

Summary

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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, Nov 2024]
Expression
Biased expression in brain (RPKM 53.2), adrenal (RPKM 8.4) and 4 other tissues See more
Orthologs
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Genomic context

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See FAM171B in Genome Data Viewer
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_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16844 Neighboring gene Sharpr-MPRA regulatory region 6200 Neighboring gene integrin subunit alpha V Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12169 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:187599004-187599760 Neighboring gene MPRA-validated peak3974 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr2:187744049-187744226 Neighboring gene MPRA-validated peak3975 silencer Neighboring gene zinc finger SWIM-type containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:187775904-187776404 Neighboring gene CALCRL and TFPI antisense RNA 1 Neighboring gene inosine monophosphate dehydrogenase 1 pseudogene 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. FAM171B is a novel polyglutamine protein widely expressed in the mammalian brain. Tran Q, et al. Brain Res, 2021 Sep 1. PMID 34052262
  2. MiR-483-3p regulates oxaliplatin resistance by targeting FAM171B in human colorectal cancer cells. Liang H, et al. Artif Cells Nanomed Biotechnol, 2019 Dec. PMID 30861353
  3. FAM171B stabilizes vimentin and enhances CCL2-mediated TAM infiltration to promote bladder cancer progression. Hu WM, et al. J Exp Clin Cancer Res, 2023 Nov 2. PMID 37915048, Free PMC Article
  4. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319
  5. RNF43 inhibits WNT5A-driven signaling and suppresses melanoma invasion and resistance to the targeted therapy. Radaszkiewicz T, et al. Elife, 2021 Oct 27. PMID 34702444, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
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

Homology

Clone Names

  • FLJ34104, KIAA1946

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.

mRNA and Protein(s)

  1. NM_177454.4 → NP_803237.3  protein FAM171B precursor

    See identical proteins and their annotated locations for NP_803237.3

    Status: VALIDATED

    Source sequence(s)
    AB075826, AC017101, BC060872
    Consensus CDS
    CCDS33347.1
    UniProtKB/Swiss-Prot
    Q53SK3, Q6P995, Q8N1Y4, Q8N3K1, Q8N970, Q8NB81, Q8TF55, Q8WYR8
    UniProtKB/TrEMBL
    A8K122
    Related
    ENSP00000304108.5, ENST00000304698.10
    Conserved Domains (1) summary
    pfam10577
    Location:85 → 826
    UPF0560; uncharacterized protein family UPF0560

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

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    186694060..186765959
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    187183195..187255094
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P995.3 GenPept UniProtKB/Swiss-Prot:Q6P995

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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