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

Gene ID: 55731, updated on 3-Apr-2024

Summary

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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, Apr 2022]
Expression
Broad expression in testis (RPKM 12.8), duodenum (RPKM 3.8) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
17q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28755980..28855004, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29698772..29785567, complement)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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. Global proteomics of Ubqln2-based murine models of ALS. Whiteley AM, et al. J Biol Chem, 2021 Jan-Jun. PMID 33277362, Free PMC Article
  3. Comparative Application of BioID and TurboID for Protein-Proximity Biotinylation. May DG, et al. Cells, 2020 Apr 25. PMID 32344865, Free PMC Article
  4. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791
  5. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
protein FAM222B
Names
uncharacterized protein C17orf63

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_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_2023_10

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

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