U.S. flag

An official website of the United States government

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

Gene ID: 150864, updated on 10-Dec-2024

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See FAM117B in Genome Data Viewer
Location:
2q33.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (202634969..202769757)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (203116388..203251211)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (203499692..203634480)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MT-ND4 pseudogene 30 Neighboring gene MT-CO1 pseudogene 54 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17003 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:203579150-203579831 Neighboring gene MPRA-validated peak4017 silencer Neighboring gene phosphatidylinositol glycan anchor biosynthesis class Y pseudogene Neighboring gene islet cell autoantigen 1 like Neighboring gene keratin 8 pseudogene 15

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog

Interactions

General gene information

Clone Names

  • FLJ38771, DKFZp686H01244

Gene Ontology Provided by GOA

General protein information

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)

NEW Try the new Transcript table

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_173511.4NP_775782.2  protein FAM117B

    See identical proteins and their annotated locations for NP_775782.2

    Status: VALIDATED

    Source sequence(s)
    AC009960, AC098831, AK096090, BX537704, CN397358
    Consensus CDS
    CCDS33362.2
    UniProtKB/Swiss-Prot
    Q53QZ5, Q585T9, Q6P1L5, Q8N8W1, Q96Q34
    Related
    ENSP00000376071.2, ENST00000392238.3
    Conserved Domains (1) summary
    pfam15388
    Location:218529
    FAM117; Protein Family FAM117

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
    202634969..202769757
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    203116388..203251211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
External link. Please review our privacy policy.