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FAM221A family with sequence similarity 221 member A [ Homo sapiens (human) ]

Gene ID: 340277, updated on 5-Mar-2024

Summary

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Official Symbol
FAM221Aprovided by HGNC
Official Full Name
family with sequence similarity 221 member Aprovided by HGNC
Primary source
HGNC:HGNC:27977
See related
Ensembl:ENSG00000188732 AllianceGenome:HGNC:27977
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
C7orf46
Expression
Broad expression in testis (RPKM 6.7), stomach (RPKM 4.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7p15.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (23680199..23703249)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (23819482..23842521)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (23719818..23742269)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18014 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:23645851-23645985 Neighboring gene coiled-coil domain containing 126 Neighboring gene FCF1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:23694754-23695254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25739 Neighboring gene NANOG hESC enhancer GRCh37_chr7:23763155-23763682 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:23763683-23764210 Neighboring gene serine/threonine kinase 31 Neighboring gene protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 3 Neighboring gene MPRA-validated peak6439 silencer Neighboring gene TPT1 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. Protein interactome reveals converging molecular pathways among autism disorders. Sakai Y, et al. Sci Transl Med, 2011 Jun 8. PMID 21653829, Free PMC Article
  2. TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions. Banks CA, et al. Mol Cell Proteomics, 2016 Nov. PMID 27609421, Free PMC Article
  3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
  4. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

See all (11) 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

  • FLJ45875, MGC72075, DKFZp686F0810

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
protein FAM221A
Names
uncharacterized protein C7orf46

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_001127364.3 → NP_001120836.1  protein FAM221A isoform 2

    See identical proteins and their annotated locations for NP_001120836.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    BC026000, BC042034, DB538373
    Consensus CDS
    CCDS47561.1
    Related
    ENSP00000386927.3, ENST00000409192.7
    Conserved Domains (1) summary
    pfam14753
    Location:20 → 212
    DUF4475; Domain of unknown function (DUF4475)

  2. NM_001127365.3 → NP_001120837.1  protein FAM221A isoform 3

    See identical proteins and their annotated locations for NP_001120837.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    BC026000, BC042034, DB538373, HY056255
    Consensus CDS
    CCDS47562.1
    UniProtKB/Swiss-Prot
    A4D161
    Related
    ENSP00000386631.3, ENST00000409994.3
    Conserved Domains (1) summary
    pfam14753
    Location:22 → 154
    DUF4475; Domain of unknown function (DUF4475)

  3. NM_001300932.2 → NP_001287861.1  protein FAM221A isoform 4

    See identical proteins and their annotated locations for NP_001287861.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
    Source sequence(s)
    AI370799, BC042034, BC063130, BU958830, HY056255
    Consensus CDS
    CCDS75570.1
    UniProtKB/TrEMBL
    B8ZZQ8
    Related
    ENSP00000386900.1, ENST00000409653.5
    Conserved Domains (1) summary
    pfam14753
    Location:22 → 156
    DUF4475; Domain of unknown function (DUF4475)

  4. NM_199136.5 → NP_954587.2  protein FAM221A isoform 1

    See identical proteins and their annotated locations for NP_954587.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI370799, BC042034, BC063130, HY056255
    Consensus CDS
    CCDS5385.1
    UniProtKB/Swiss-Prot
    A4D161, Q05CG4, Q4G0Q7, Q6P519
    Related
    ENSP00000342576.4, ENST00000344962.9
    Conserved Domains (1) summary
    pfam14753
    Location:20 → 214
    DUF4475; Domain of unknown function (DUF4475)

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    23680199..23703249
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515369.3 → XP_011513671.1  protein FAM221A isoform X1

    See identical proteins and their annotated locations for XP_011513671.1

    UniProtKB/Swiss-Prot
    A4D161, Q05CG4, Q4G0Q7, Q6P519
    Conserved Domains (1) summary
    pfam14753
    Location:20 → 214
    DUF4475; Domain of unknown function (DUF4475)

  2. XM_017012134.2 → XP_016867623.1  protein FAM221A isoform X3

    Conserved Domains (1) summary
    pfam14753
    Location:20 → 212
    DUF4475; Domain of unknown function (DUF4475)

  3. XM_011515370.3 → XP_011513672.1  protein FAM221A isoform X2

    Conserved Domains (1) summary
    pfam14753
    Location:20 → 214
    DUF4475; Domain of unknown function (DUF4475)

  4. XM_011515371.3 → XP_011513673.1  protein FAM221A isoform X4

    See identical proteins and their annotated locations for XP_011513673.1

    Conserved Domains (1) summary
    pfam14753
    Location:20 → 213
    DUF4475; Domain of unknown function (DUF4475)

  5. XM_047420316.1 → XP_047276272.1  protein FAM221A isoform X6

  6. XM_047420317.1 → XP_047276273.1  protein FAM221A isoform X8

  7. XM_047420315.1 → XP_047276271.1  protein FAM221A isoform X5

  8. XM_011515372.3 → XP_011513674.1  protein FAM221A isoform X7

    Conserved Domains (1) summary
    pfam14753
    Location:1 → 151
    DUF4475; Domain of unknown function (DUF4475)

  9. XM_017012135.2 → XP_016867624.1  protein FAM221A isoform X9

RNA

  1. XR_428081.4 RNA Sequence

  2. XR_002956430.2 RNA Sequence

  3. XR_002956431.2 RNA Sequence

  4. XR_007060019.1 RNA Sequence

  5. XR_007060020.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    23819482..23842521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358096.1 → XP_054214071.1  protein FAM221A isoform X1

    UniProtKB/Swiss-Prot
    A4D161, Q05CG4, Q4G0Q7, Q6P519

  2. XM_054358098.1 → XP_054214073.1  protein FAM221A isoform X3

  3. XM_054358097.1 → XP_054214072.1  protein FAM221A isoform X2

  4. XM_054358099.1 → XP_054214074.1  protein FAM221A isoform X4

  5. XM_054358101.1 → XP_054214076.1  protein FAM221A isoform X6

  6. XM_054358103.1 → XP_054214078.1  protein FAM221A isoform X8

  7. XM_054358100.1 → XP_054214075.1  protein FAM221A isoform X5

  8. XM_054358102.1 → XP_054214077.1  protein FAM221A isoform X7

  9. XM_054358104.1 → XP_054214079.1  protein FAM221A isoform X9

RNA

  1. XR_008487592.1 RNA Sequence

  2. XR_008487593.1 RNA Sequence

  3. XR_008487596.1 RNA Sequence

  4. XR_008487594.1 RNA Sequence

  5. XR_008487595.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A4D161.1 GenPept UniProtKB/Swiss-Prot:A4D161

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