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

Summary

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
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

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

D17S2153 (e-PCR)
- UniSTS:15379

RH39311 (e-PCR)
- UniSTS:88600

RH93591 (e-PCR)
- UniSTS:88402

SHGC-80705 (e-PCR)
- UniSTS:102247

RH47382 (e-PCR)
- UniSTS:90345

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 more info	PubMed
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)

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
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
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
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
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
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
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
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
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
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
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
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