ITFG3

FAM234A
Identifiers
Aliases	FAM234A , C16orf9, gs19, ITFG3, family with sequence similarity 234 member A
External IDs	MGI: 2146854 HomoloGene: 12932 GeneCards: FAM234A
Gene location (Human)
Chr.	Chromosome 16 (human)
End	272,183 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	26,244,242 bp
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; Stromal cell of endometrium; ; left ventricle; ; tibial nerve; ; anterior pituitary; ; right lobe of thyroid gland; ; popliteal artery; ; left coronary artery; ; gastric mucosa; ; left lobe of thyroid gland;
	Top expressed in
	interventricular septum; ; otolith organ; ; utricle; ; duodenum; ; jejunum; ; stria vascularis; ; colon; ; left colon; ; lip; ; Epithelium of stomach;
	More reference expression data
	n/a
Gene ontology
Molecular function	molecular function ;
Cellular component	membrane ; cell surface ; extracellular exosome ; integral component of membrane ;
Biological process	biological process ;
	Sources:Amigo / QuickGO
Orthologs
	83986
	106581
	ENSG00000167930
	ENSMUSG00000024187
	Q9H0X4
	Q8C0Z1
	NM_001284497 ; NM_032039
	NM_001206335 ; NM_207217 ; NM_001357894 ; NM_001374603
	NP_001271426 ; NP_114428
	NP_001193264 ; NP_997100 ; NP_001344823
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated July 24, 2022

Protein ITFG3 also known as family with sequence similarity 234 member A (FAM234A) is a protein that in humans is encoded by the ITFG3 gene.^[5]^[6] Here, the gene is explored as encoded by mRNA found in Homo sapiens. The FAM234A gene is conserved in mice, rats, chickens, zebrafish, dogs, cows, frogs, chimpanzees, and rhesus monkeys.^[7] Orthologs of the gene can be found in at least 220 organisms including the tropical clawed frog, pandas, and Chinese hamsters.^[8] The gene is located at 16p13.3 and has a total of 19 exons. The mRNA has a total of 3224 bp and the protein has 552 aa.^[9]^[7] The molecular mass of the protein produced by this gene is 59660 Da.^[10] It is expressed in at least 27 tissue types in humans, with the greatest presence in the duodenum, fat, small intestine, and heart.^[7]

A “Newfoundland deletion” or a⁰-thalassemia deletion has been found within the second intervening sequence of the FAM234A gene.^[11] The gene is associated with multiple red blood cell phenotypes in African Americans – though the exact function or effect of the gene was not entirely clear.^[12] Review of GeneCards’ current database on the FAM234A gene provided no additional elucidation on the function of the gene.^[10]

Gene

FAM234A is located on Chromosome 16 (234,546 - 269, 943). It is 35,398 bases long, contains 11 exons, and is oriented on the plus strand in the 5' to 3' direction. Other aliases include ITFG3, C16orf9, and gs19.

There are no known paralogs of FAM234A.

The FAM234A gene is conserved in at least 220 organisms, with no evidence for conservation of the gene in single-celled organisms. Listed below is a selection of orthologs with the estimated date of divergence from human lineage in million years ago (MYA), the accession number, and the % identity to human FAM234A. This list does not contain all of the known orthologs.

Selection of Organisms with FAM234A Orthologs
Common Name	Divergence from Human Lineage (MYA)	Accession Number	Identity to Human (%)
Rhesus Monkey	28.1	NP_001253283.1	95
White-tufted-ear marmoset	42.6	XP_009007067.1	86
House mouse	88	NP_001344823.1	86
Chinese Hamster	88	XP_003501607.1	77
Upper Galilee mountains blind mole rat	88	XP_008849023.1	74
Golden Hamster	88	XP_005081607.1	76
Giant Panda	94	XP_011224429.1	73
Horse	94	XP_014585783.1	74
Beluga Whale	94	XP_022450014.1	73
Chicken	320	XP_414950.2	45
Blue Tit	320	XP_023792271.1	43
Bengalese Finch	320	XP_021404267.1	44
Central Bearded Dragon	320	XP_020667631.1	43
Australian saltwater crocodile	320	XP_019395600.1	47
Tropical Clawed Frog	353	NP_001121517.1	35
Zebrafish	432	XP_001336768.2	31
Barramundi Perch	432	XP_018520114.1	34
Japanese Medaka	432	XP_020567870.1	33
Elephant Shark	465	XP_007906598.1	37
Rat	88	NP_001009701.1	72

mRNA

There are at least 11 FAM234A isoforms. Aside from the longest transcript, the other isoforms differ by truncation, primarily at the 3' end. This results in a wide variation in sequence length between isoforms.

Protein

The FAM234A gene encodes a serine and leucine rich protein titled the "FAM234A Protein" or ITFG3. The encoded protein is 552 amino acids in length with a predicted molecular weight of 59,660Da and a basal isoelectric point of 5.84.^[13] The FAM234A protein has a notable hydrophobic region from position 49-70 in the amino acid sequence that correlates with one of the two trans-membrane regions found on FAM234A.^[14] FAM234A has membrane topology type 3a, indicating multiple trans-membrane regions with its N-terminus facing the cytosol. The protein is predicted to be located in the endoplasmic reticulum, with portions of it found within the endoplasmic reticulum lumen.^[14] Within the cell, FAM234A has also been localized to the ribosomes and nucleus.^[15]

Related Research Articles

Family with sequence similarity 167, member A is a protein in humans that is encoded by the FAM167A gene located on chromosome 8. FAM167A and its paralogs are protein encoding genes containing the conserved domain DUF3259, a protein of unknown function. FAM167A has many orthologs in which the domain of unknown function is highly conserved.

Transmembrane Protein 176B, or TMEM176B is a transmembrane protein that in humans is encoded by the TMEM176B gene. It is thought to play a role in the process of maturation of dendritic cells.

BEND2 is a protein that in humans is encoded by the BEND2 gene. It is also found in other vertebrates, including mammals, birds, and reptiles. The expression of BEND2 in Homo sapiens is regulated and occurs at high levels in the skeletal muscle tissue of the male testis and in the bone marrow. The presence of the BEN domains in the BEND2 protein indicates that this protein may be involved in chromatin modification and regulation.

Chromosome 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.

FAM71E1, also known as Family With Sequence Similarity 71 Member E1, is a protein that in humans is encoded by the FAM71E1 gene. It is thought to be ubiquitously expressed at low levels throughout the body, and it is conserved in vertebrates, particularly mammals and some reptiles. The protein is localized to the nucleus and can be exported to the cytoplasm.

Chromosome 9 open reading frame 25 (C9orf25) is a domain that encodes the FAM219A gene. The terms FAM219A and C9orf25 are aliases and can be used interchangeably. The function of this gene is not yet completely understood.

Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. C19orf44 is an uncharacterized protein with an unknown function in humans. C19orf44 is non-limiting implying that the protein exists in other species besides human. The protein contains one domain of unknown function (DUF) that is highly conserved throughout its orthologs. This protein is most highly expressed in the testis and ovary, but also has significant expression in the thyroid and parathyroid. Other names for this protein include: LOC84167.

Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene.

Cilia- and flagella-associated protein 299 (CFAP299), is a protein that in humans is encoded by the CFAP299 gene. CFAP299 is predicted to play a role in spermatogenesis and cell apoptosis.

FAM178B is a protein coding that is located on the plus strand of chromosome 2. The locus for the gene is 2q11.2. It is also known by the aliases Family with Sequence Similarity 178, Member B, and HSPC234. In total there are 24 exons in the gene. FAM178B spans 110,720 base pairs, and contains 827 amino acids.

C12orf24 is a gene in humans that encodes a protein known as FAM216A. This gene is primarily expressed in the testis and brain, but has constitutive expression in 25 other tissues. FAM216A is an intracellular protein that has been predicted to reside within the nucleus of cells. The exact function of C12orf24 is unknown. FAM216A is highly expressed in Sertoli cells of the testis as well as different stage spermatids.

Leucine rich single-pass membrane protein 2 is a single-pass membrane protein rich in leucine, that in humans is encoded by the LSMEM2 gene. The LSMEM2 protein is conserved in mammals, birds, and reptiles. In humans, LSMEM2 is found to be highly expressed in the heart, skeletal muscle and tongue.

Serum amyloid A-like 1 is a protein in humans encoded by the SAAL1 gene.

Transmembrane protein 169 (TMEM169) in humans is encoded by TMEM169 gene. The aliases of TMEM169 include FLJ34263, DKFZp781L2456, and LOC92691. TMEM169 has the highest expression in the brain, particularly the fetal brain. TMEM169 has homologs mammals, reptiles, amphibians, birds, fish, chordates and invertebrates. The most distantly related homolog of TMEM169 is Anopheles albimanus.

Chromosome 9 open reading frame 85, commonly known as C9orf85, is a protein in Homo sapiens encoded by the C9orf85 gene. The gene is located at 9q21.13. When spliced, four different isoforms are formed. C9orf85 has a predicted molecular weight of 20.17 kdal. Isoelectric point was found to be 9.54. The function of the gene has not yet been confirmed, however it has been found to show high levels of expression in cells of high differentiation.

The FAM214B, also known as protein family with sequence similarity 214, B (FAM214B) is a protein that, in humans, is encoded by the FAM214B gene located on the human chromosome 9. The protein has 538 amino acids. The gene contain 9 exon. There has been studies that there are low expression of this gene in patients with major depression disorder. In most organisms such as mammals, amphibians, reptiles, and birds, there are high levels of gene expression in the bone marrow and blood. For humans in fetal development, FAM214B is mostly expressed in the brains and bone marrow.

FAM120AOS, or family with sequence similarity 120A opposite strand, codes for uncharacterized protein FAM120AOS, which currently has no known function. The gene ontology describes the gene to be protein binding. Overall, it appears that the thyroid and the placenta are the two tissues with the highest expression levels of FAM120AOS across a majority of datasets.

Family with sequence 98, member C or FAM98C is a gene that encodes for FAM98C has two aliases FLJ44669 and hypothetical protein LOC147965. FAM98C has two paralogs in humans FAM98A and FAM98B. FAM98C can be characterized for being a Leucine-rich protein. The function of FAM98C is still not defined. FAM98C has orthologs in mammals, reptiles, and amphibians and has a distant orhtologs in Rhinatrema bivittatum and Nanorana parkeri.

FAM227B is a protein that in humans is encoded by FAM227B gene. FAM227B stands for family with sequence similarity 227 member B and encodes protein FAM227B of the same name. Its aliases include C15orf33, MGC57432 and FLJ23800.

Family with Sequence Similarity 166, member C (FAM166C), is a protein encoded by the FAM166C gene. The protein FAM166C is localized in the nucleus. It has a calculated molecular weight of 23.29 kDa. It also contains DUF2475, a protein of unknown function from amino acid 19-85. The FAM166C protein is nominally expressed in the testis, stomach, and thyroid.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000167930 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024187 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: ITFG3 integrin alpha FG-GAP repeat containing 3".
↑ "FAM234A Symbol Report | HUGO Gene Nomenclature Committee". www.genenames.org. Retrieved 2018-02-20.
1 2 3 "FAM234A family with sequence similarity 234 member A [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-20.
↑ "NCBI GENE Ortholog Search".
↑ "protein FAM234A [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-20.
1 2 Database, GeneCards Human Gene. "FAM234A Gene - GeneCards | F234A Protein | F234A Antibody". www.genecards.org. Retrieved 2018-02-20.
↑ Waye JS, Eng B, Hanna M, Hohenadel BA, Nakamura L, Walker L (May 2017). "α0-Thalassemia Due to a 90.7 kb Deletion (-/-NFLD)". Hemoglobin. 41 (3): 218–219. doi:10.1080/03630269.2017.1369987. PMID 28838269. S2CID 205563358.
↑ Chen Z, Tang H, Qayyum R, Schick UM, Nalls MA, Handsaker R, et al. (June 2013). "Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network". Human Molecular Genetics. 22 (12): 2529–38. doi:10.1093/hmg/ddt087. PMC 3658166 . PMID 23446634.
↑ "ITFG3 (human)". www.phosphosite.org. Retrieved 2018-05-06.
1 2 EMBL-EBI. "SAPS < Sequence Statistics < EMBL-EBI". www.ebi.ac.uk. Retrieved 2018-05-06.
↑ "Cell atlas - FAM234A - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2018-05-06.