U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

FAM222B family with sequence similarity 222 member B [ Homo sapiens (human) ]

Gene ID: 55731, updated on 2-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
FAM222Bprovided by HGNC
Official Full Name
family with sequence similarity 222 member Bprovided by HGNC
Primary source
HGNC:HGNC:25563
See related
Ensembl:ENSG00000173065 AllianceGenome:HGNC:25563
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
C17orf63
Summary
Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 12.8), duodenum (RPKM 3.8) and 24 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See FAM222B in Genome Data Viewer
Location:
17q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28755980..28855004, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29698772..29785567, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27082998..27169808, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27055683-27056406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27064492-27065026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11948 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11951 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27070105-27071105 Neighboring gene NIMA related kinase 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27074109-27075108 Neighboring gene TNF receptor associated factor 4 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:27087700-27088297 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27088298-27088894 Neighboring gene uncharacterized LOC124903965 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:27135759-27136700 Neighboring gene ribosomal protein L31 pseudogene 58 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27139060-27139702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27148955-27149456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27149457-27149956 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27164662-27165545 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27169387-27169901 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27181187-27181692 Neighboring gene H3K27ac hESC enhancers GRCh37_chr17:27181693-27182199 and GRCh37_chr17:27182200-27182705 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:27185111-27186310 Neighboring gene uncharacterized LOC124903966 Neighboring gene Era like 12S mitochondrial rRNA chaperone 1 Neighboring gene microRNA 451a Neighboring gene microRNA 451b

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations. Spiegler S, et al. Mol Syndromol, 2016 Jul. PMID 27587990, Free PMC Article
  2. The Eyes Absent family members EYA4 and EYA1 promote PLK1 activation and successful mitosis through tyrosine dephosphorylation. Nelson CB, et al. Nat Commun, 2024 Feb 15. PMID 38360978, Free PMC Article
  3. Global proteomics of Ubqln2-based murine models of ALS. Whiteley AM, et al. J Biol Chem, 2021 Jan-Jun. PMID 33277362, Free PMC Article
  4. High-resolution photocatalytic mapping of SARS-CoV-2 spike interactions on the cell surface. Datta S, et al. Cell Chem Biol, 2023 Oct 19. PMID 37499664
  5. Proximity labeling reveals dynamic changes in the SQSTM1 protein network. Rondón-Ortiz AN, et al. J Biol Chem, 2024 Sep. PMID 39098523, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ10700

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrion HTP PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

Go to the top of the page Help
Preferred Names
protein FAM222B
Names
uncharacterized protein C17orf63

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_001077498.3 → NP_001070966.1  protein FAM222B isoform 2

    See identical proteins and their annotated locations for NP_001070966.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR, lacks an exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 3. Variants 1, 2, 4, 5, 6, and 7 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010761, AK057665, BC021228
    Consensus CDS
    CCDS45637.1
    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6
    UniProtKB/TrEMBL
    B3KTH5
    Related
    ENSP00000462419.1, ENST00000581407.6
    Conserved Domains (1) summary
    pfam15258
    Location:27 → 562
    FAM222A; Protein family of FAM222A

  2. NM_001288631.2 → NP_001275560.1  protein FAM222B isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC010761, BC021228, DA789853
    UniProtKB/TrEMBL
    B3KTH5
    Conserved Domains (2) summary
    pfam14650
    Location:163 → 214
    FAM75; FAM75 family
    pfam15258
    Location:31 → 564
    FAM222A; Protein family of FAM222A

  3. NM_001288632.2 → NP_001275561.1  protein FAM222B isoform 2

    See identical proteins and their annotated locations for NP_001275561.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks an exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 3. Variants 1, 2, 4, 5, 6, and 7 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010761, BC021228, DB453514, HY040104
    Consensus CDS
    CCDS45637.1
    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6
    UniProtKB/TrEMBL
    B3KTH5
    Related
    ENSP00000463296.2, ENST00000583307.6
    Conserved Domains (1) summary
    pfam15258
    Location:27 → 562
    FAM222A; Protein family of FAM222A

  4. NM_001288633.2 → NP_001275562.1  protein FAM222B isoform 2

    See identical proteins and their annotated locations for NP_001275562.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks an exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 3. Variants 1, 2, 4, 5, 6, and 7 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010761, BC021228, HY012898
    Consensus CDS
    CCDS45637.1
    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6
    UniProtKB/TrEMBL
    B3KTH5
    Conserved Domains (1) summary
    pfam15258
    Location:27 → 562
    FAM222A; Protein family of FAM222A

  5. NM_001288634.2 → NP_001275563.1  protein FAM222B isoform 2

    See identical proteins and their annotated locations for NP_001275563.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) includes an alternate 5' terminal exon, lacks an exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 3. Variants 1, 2, 4, 5, 6, and 7 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010761, AK095569, BC021228
    Consensus CDS
    CCDS45637.1
    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6
    UniProtKB/TrEMBL
    B3KTH5
    Related
    ENSP00000413645.3, ENST00000452648.8
    Conserved Domains (1) summary
    pfam15258
    Location:27 → 562
    FAM222A; Protein family of FAM222A

  6. NM_001288635.2 → NP_001275564.1  protein FAM222B isoform 2

    See identical proteins and their annotated locations for NP_001275564.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, lacks an exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 3. Variants 1, 2, 4, 5, 6, and 7 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010761, BC021228, DC381712, HY040104
    Consensus CDS
    CCDS45637.1
    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6
    UniProtKB/TrEMBL
    B3KTH5
    Related
    ENSP00000464299.2, ENST00000581229.6
    Conserved Domains (1) summary
    pfam15258
    Location:27 → 562
    FAM222A; Protein family of FAM222A

  7. NM_001288636.2 → NP_001275565.1  protein FAM222B isoform 3

    See identical proteins and their annotated locations for NP_001275565.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 3. Variants 8 through 12 encode the same isoform (3), which is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010761, BC021228, HY006495
    UniProtKB/TrEMBL
    B4DRX9
    Conserved Domains (1) summary
    pfam15258
    Location:1 → 434
    FAM222A; Protein family of FAM222A

  8. NM_001288637.2 → NP_001275566.1  protein FAM222B isoform 3

    See identical proteins and their annotated locations for NP_001275566.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 3. Variants 8 through 12 encode the same isoform (3), which is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010761, BC021228, DA887444
    UniProtKB/TrEMBL
    B4DRX9
    Conserved Domains (1) summary
    pfam15258
    Location:1 → 434
    FAM222A; Protein family of FAM222A

  9. NM_001288638.2 → NP_001275567.1  protein FAM222B isoform 3

    See identical proteins and their annotated locations for NP_001275567.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 3. Variants 8 through 12 encode the same isoform (3), which is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010761, BC021228, DC400943, HY040104
    UniProtKB/TrEMBL
    B4DRX9
    Conserved Domains (1) summary
    pfam15258
    Location:1 → 434
    FAM222A; Protein family of FAM222A

  10. NM_001288639.2 → NP_001275568.1  protein FAM222B isoform 3

    See identical proteins and their annotated locations for NP_001275568.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 3. Variants 8 through 12 encode the same isoform (3), which is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010761, BC021228, DC376581, HY040104
    UniProtKB/TrEMBL
    B4DRX9
    Conserved Domains (1) summary
    pfam15258
    Location:1 → 434
    FAM222A; Protein family of FAM222A

  11. NM_001288640.2 → NP_001275569.1  protein FAM222B isoform 3

    See identical proteins and their annotated locations for NP_001275569.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 3. Variants 8 through 12 encode the same isoform (3), which is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010761, AK299477, BC021228, HY040104
    UniProtKB/TrEMBL
    B4DRX9
    Conserved Domains (1) summary
    pfam15258
    Location:1 → 434
    FAM222A; Protein family of FAM222A

  12. NM_018182.4 → NP_060652.2  protein FAM222B isoform 2

    See identical proteins and their annotated locations for NP_060652.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks an exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 3. Variants 1, 2, 4, 5, 6, and 7 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010761, BC021228, DC374179, HY040104
    Consensus CDS
    CCDS45637.1
    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6
    UniProtKB/TrEMBL
    B3KTH5
    Related
    ENSP00000464355.2, ENST00000577376.6
    Conserved Domains (1) summary
    pfam15258
    Location:27 → 562
    FAM222A; Protein family of FAM222A

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    28755980..28855004 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436371.1 → XP_047292327.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6
    Related
    ENSP00000463642.2, ENST00000577513.6

  2. XM_047436381.1 → XP_047292337.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  3. XM_047436376.1 → XP_047292332.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  4. XM_047436383.1 → XP_047292339.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  5. XM_047436379.1 → XP_047292335.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  6. XM_047436374.1 → XP_047292330.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  7. XM_047436373.1 → XP_047292329.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  8. XM_047436372.1 → XP_047292328.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  9. XM_047436378.1 → XP_047292334.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  10. XM_047436377.1 → XP_047292333.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  11. XM_047436386.1 → XP_047292342.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  12. XM_047436380.1 → XP_047292336.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  13. XM_047436385.1 → XP_047292341.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  14. XM_047436382.1 → XP_047292338.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  15. XM_047436375.1 → XP_047292331.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

  16. XM_047436384.1 → XP_047292340.1  protein FAM222B isoform X1

    UniProtKB/Swiss-Prot
    Q8WU58, Q9H6F3, Q9NVJ4, Q9NXN6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    29698772..29785567 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WU58.1 GenPept UniProtKB/Swiss-Prot:Q8WU58

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools