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FAM234A family with sequence similarity 234 member A [ Homo sapiens (human) ]

Gene ID: 83986, updated on 3-Apr-2024

Summary

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Official Symbol
FAM234Aprovided by HGNC
Official Full Name
family with sequence similarity 234 member Aprovided by HGNC
Primary source
HGNC:HGNC:14163
See related
Ensembl:ENSG00000167930 AllianceGenome:HGNC:14163
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
gs19; ITFG3; C16orf9
Summary
Located in cell surface. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in duodenum (RPKM 28.7), fat (RPKM 21.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16p13.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (234821..269963)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (228632..264793)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (284820..319962)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene LUC7 like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:279124-279820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:284237-284780 Neighboring gene C4orf46 pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:307431-308390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:322947-323484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:323485-324021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:325209-325860 Neighboring gene regulator of G protein signaling 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:330732-331489 Neighboring gene Rho GDP dissociation inhibitor gamma Neighboring gene protein disulfide isomerase family A member 2

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. Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. Ding K, et al. G3 (Bethesda), 2013 Jul 8. PMID 23696099, Free PMC Article
  2. Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins. Wollscheid B, et al. Nat Biotechnol, 2009 Apr. PMID 19349973, Free PMC Article
  3. The relationship between chromosome structure and function at a human telomeric region. Flint J, et al. Nat Genet, 1997 Mar. PMID 9054936
  4. Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. Chen Z, et al. Hum Mol Genet, 2013 Jun 15. PMID 23446634, Free PMC Article
  5. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Ganesh SK, et al. Nat Genet, 2009 Nov. PMID 19862010, Free PMC Article

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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

EBI GWAS Catalog

Description
Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.
EBI GWAS Catalog
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
EBI GWAS Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
EBI GWAS Catalog

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

  • FLJ32603, DKFZp761D0211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
located_in cell surface HDA PubMed 
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein FAM234A
Names
integrin alpha FG-GAP repeat containing 3
protein ITFG3

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_001284497.2 → NP_001271426.1  protein FAM234A

    See identical proteins and their annotated locations for NP_001271426.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC004754, BC013047, CN262982
    Consensus CDS
    CCDS10402.1
    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
    UniProtKB/TrEMBL
    B4DGG1
    Related
    ENSP00000301678.3, ENST00000301678.7

  2. NM_032039.4 → NP_114428.1  protein FAM234A

    See identical proteins and their annotated locations for NP_114428.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC004754, AL136542, BC032112, CN262982
    Consensus CDS
    CCDS10402.1
    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
    UniProtKB/TrEMBL
    B4DGG1
    Related
    ENSP00000382814.3, ENST00000399932.8

RNA

  1. NR_104317.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC004754, AK294581, CN262982

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    234821..269963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434744.1 → XP_047290700.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  2. XM_047434753.1 → XP_047290709.1  protein FAM234A isoform X3

  3. XM_047434745.1 → XP_047290701.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  4. XM_047434742.1 → XP_047290698.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  5. XM_047434747.1 → XP_047290703.1  protein FAM234A isoform X3

  6. XM_047434749.1 → XP_047290705.1  protein FAM234A isoform X2

  7. XM_047434746.1 → XP_047290702.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  8. XM_047434743.1 → XP_047290699.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  9. XM_011522691.2 → XP_011520993.1  protein FAM234A isoform X1

    See identical proteins and their annotated locations for XP_011520993.1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
    UniProtKB/TrEMBL
    B4DGG1

  10. XM_047434748.1 → XP_047290704.1  protein FAM234A isoform X3

  11. XM_047434750.1 → XP_047290706.1  protein FAM234A isoform X2

  12. XM_017023761.2 → XP_016879250.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
    UniProtKB/TrEMBL
    B4DGG1

  13. XM_047434752.1 → XP_047290708.1  protein FAM234A isoform X3

  14. XM_047434755.1 → XP_047290711.1  protein FAM234A isoform X2

  15. XM_005255622.2 → XP_005255679.1  protein FAM234A isoform X1

    See identical proteins and their annotated locations for XP_005255679.1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
    UniProtKB/TrEMBL
    B4DGG1

  16. XM_047434751.1 → XP_047290707.1  protein FAM234A isoform X3

  17. XM_017023764.2 → XP_016879253.1  protein FAM234A isoform X2

    UniProtKB/TrEMBL
    B4DGG1

  18. XM_006720957.2 → XP_006721020.1  protein FAM234A isoform X3

    UniProtKB/TrEMBL
    B4DGG1

  19. XM_005255623.4 → XP_005255680.1  protein FAM234A isoform X2

    UniProtKB/TrEMBL
    B4DGG1

  20. XM_017023765.3 → XP_016879254.1  protein FAM234A isoform X4

    UniProtKB/TrEMBL
    B4DGG1

  21. XM_017023762.2 → XP_016879251.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
    UniProtKB/TrEMBL
    B4DGG1

  22. XM_011522692.2 → XP_011520994.1  protein FAM234A isoform X1

    See identical proteins and their annotated locations for XP_011520994.1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
    UniProtKB/TrEMBL
    B4DGG1

  23. XM_017023763.3 → XP_016879252.1  protein FAM234A isoform X2

    UniProtKB/TrEMBL
    B4DGG1

  24. XM_047434756.1 → XP_047290712.1  protein FAM234A isoform X2

  25. XM_017023760.3 → XP_016879249.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
    UniProtKB/TrEMBL
    B4DGG1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    228632..264793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314120.1 → XP_054170095.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  2. XM_054314133.1 → XP_054170108.1  protein FAM234A isoform X3

  3. XM_054314121.1 → XP_054170096.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  4. XM_054314113.1 → XP_054170088.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  5. XM_054314126.1 → XP_054170101.1  protein FAM234A isoform X3

  6. XM_054314128.1 → XP_054170103.1  protein FAM234A isoform X2

  7. XM_054314122.1 → XP_054170097.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  8. XM_054314119.1 → XP_054170094.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  9. XM_054314114.1 → XP_054170089.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  10. XM_054314127.1 → XP_054170102.1  protein FAM234A isoform X3

  11. XM_054314129.1 → XP_054170104.1  protein FAM234A isoform X2

  12. XM_054314117.1 → XP_054170092.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  13. XM_054314132.1 → XP_054170107.1  protein FAM234A isoform X3

  14. XM_054314134.1 → XP_054170109.1  protein FAM234A isoform X2

  15. XM_054314118.1 → XP_054170093.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  16. XM_054314131.1 → XP_054170106.1  protein FAM234A isoform X3

  17. XM_054314135.1 → XP_054170110.1  protein FAM234A isoform X2

  18. XM_054314125.1 → XP_054170100.1  protein FAM234A isoform X3

  19. XM_054314124.1 → XP_054170099.1  protein FAM234A isoform X2

  20. XM_054314137.1 → XP_054170112.1  protein FAM234A isoform X4

  21. XM_054314130.1 → XP_054170105.1  protein FAM234A isoform X2

  22. XM_054314116.1 → XP_054170091.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  23. XM_054314123.1 → XP_054170098.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

  24. XM_054314136.1 → XP_054170111.1  protein FAM234A isoform X2

  25. XM_054314115.1 → XP_054170090.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0X4.1 GenPept UniProtKB/Swiss-Prot:Q9H0X4

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