LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
American, English, Irish
Study Design
10 late-onset Alzheimer's disease genes were tested for association with human aging in the dataset (1385 samples with documented age at death, age range: 58–108 years; mean age at death: 80.2 years) using the most significant SNPs found in the previous studies. A set of 41 tentative SNPs span the genome were identified in this study.
Conclusions
Some signals were at best tentative but may merit study in larger sample sets

Variants (41)

No gene

1.
Identifier
rs6491207
Cytogenetic Location
2.
Identifier
rs17205854
Cytogenetic Location
3.
Identifier
rs17811551
Cytogenetic Location
4.
Identifier
rs7525717
Cytogenetic Location
5.
Identifier
rs17049647
Cytogenetic Location
6.
Identifier
rs12740413
Cytogenetic Location
7.
Identifier
rs7622678
Cytogenetic Location
8.
Identifier
rs10901296
Cytogenetic Location
9.
Identifier
rs1537438
Cytogenetic Location
10.
Identifier
rs11206814
Cytogenetic Location
11.
Identifier
rs10485170
Cytogenetic Location
12.
Identifier
rs3125524
Cytogenetic Location
13.
Identifier
rs4280854
Cytogenetic Location
14.
Identifier
rs1037381
Cytogenetic Location

ANK2

1.
Identifier
rs17618813
Cytogenetic Location
4q25-q26
UCSC Genome Browser
View 4q25-q26 on the UCSC genome browser

Gene details

HGNC symbol
ANK2
Aliases
LQT4; ANK-2; brank-2 
Common name
ankyrin 2 
Description
This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]
OMIM
106410
Ensembl
ENSG00000145362
UniProt/Swiss-Prot
A0A024RDI4_HUMAN
Entrez Gene
287
UniGene
620557
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
trp-4
Danio rerio
ank2b
Mus musculus
Ank2
Rattus norvegicus
Ank2

ART3

1.
Identifier
rs13111494
Cytogenetic Location
4q21.1
UCSC Genome Browser
View 4q21.1 on the UCSC genome browser

Gene details

HGNC symbol
ART3
Aliases
ARTC3 
Common name
ADP-ribosyltransferase 3 
Description
This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
OMIM
603086
Ensembl
ENSG00000156219
UniProt/Swiss-Prot
NAR3_HUMAN
Entrez Gene
419
UniGene
24976
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
art4
Danio rerio
si:ch73-379f5.5
Danio rerio
si:ch211-51i16.1
Danio rerio
CABZ01059912.1
Danio rerio
si:ch211-51i16.3
Danio rerio
BX908804.1
Danio rerio
si:ch211-163m16.7
Danio rerio
CABZ01019905.2
Danio rerio
CABZ01019905.1
Danio rerio
CABZ01059913.1
Danio rerio
CABZ01059914.1
Danio rerio
CR846080.1
Mus musculus
Art3
Rattus norvegicus
Art3

CNR1

1.
Identifier
rs6454676
Cytogenetic Location
6q15
UCSC Genome Browser
View 6q15 on the UCSC genome browser

Gene details

HGNC symbol
CNR1
Aliases
CB1; CNR; CB-R; CB1A; CB1R; CANN6; CB1K5 
Common name
cannabinoid receptor 1 
Description
This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009]
OMIM
114610
Ensembl
ENSG00000118432
UniProt/Swiss-Prot
CNR1_HUMAN
Entrez Gene
1268
UniGene
75110
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cnr1
Mus musculus
Cnr1
Rattus norvegicus
Cnr1

In other databases

GenAge human genes
  • This gene is present as CNR1

CNTN5

1.
Identifier
rs7103504
Cytogenetic Location
11q22.1
UCSC Genome Browser
View 11q22.1 on the UCSC genome browser

Gene details

HGNC symbol
CNTN5
Aliases
NB-2; HNB-2s 
Common name
contactin 5 
Description
The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Other longevity studies of this gene
1
OMIM
607219
Ensembl
ENSG00000149972
UniProt/Swiss-Prot
CNTN5_HUMAN
Entrez Gene
53942
UniGene
656783
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cntn5
Drosophila melanogaster
Cont
Mus musculus
Cntn5
Rattus norvegicus
Cntn5

CYTH3

1.
Identifier
rs7803143
Cytogenetic Location
7p22.1
UCSC Genome Browser
View 7p22.1 on the UCSC genome browser
2.
Identifier
rs6962026
Cytogenetic Location
7p22.1
UCSC Genome Browser
View 7p22.1 on the UCSC genome browser
3.
Identifier
rs10085518
Cytogenetic Location
7p22.1
UCSC Genome Browser
View 7p22.1 on the UCSC genome browser

Gene details

HGNC symbol
CYTH3
Aliases
GRP1; ARNO3; PSCD3; cytohesin-3 
Common name
cytohesin 3 
Description
This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
605081
Ensembl
ENSG00000008256
UniProt/Swiss-Prot
CYH3_HUMAN
Entrez Gene
9265
UniGene
487479
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
grp-1
Danio rerio
cyth3a
Danio rerio
si:ch211-189a21.1
Danio rerio
cyth3b
Drosophila melanogaster
step
Mus musculus
Cyth3
Rattus norvegicus
Cyth3
Saccharomyces cerevisiae
SEC7

ERBB4

1.
Identifier
rs4673651
Cytogenetic Location
2q34
UCSC Genome Browser
View 2q34 on the UCSC genome browser

Gene details

HGNC symbol
ERBB4
Aliases
HER4; ALS19; p180erbB4 
Common name
erb-b2 receptor tyrosine kinase 4 
Description
This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
OMIM
600543
Ensembl
ENSG00000178568
UniProt/Swiss-Prot
ERBB4_HUMAN
Entrez Gene
2066
UniGene
390729
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ERBB4 (1 of many)
Danio rerio
erbb4b
Danio rerio
erbb4a
Drosophila melanogaster
Egfr
Mus musculus
Erbb4
Rattus norvegicus
Erbb4

ERICH5

1.
Identifier
rs2444861
Cytogenetic Location
8q22.2
UCSC Genome Browser
View 8q22.2 on the UCSC genome browser

Gene details

HGNC symbol
ERICH5
Aliases
C8orf47 
Common name
glutamate rich 5 
Description
OMIM
Ensembl
ENSG00000177459
UniProt/Swiss-Prot
ERIC5_HUMAN
Entrez Gene
203111
UniGene
171455
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Erich5
Rattus norvegicus
Erich5

FAM19A1

1.
Identifier
rs17047650
Cytogenetic Location
3p14.1
UCSC Genome Browser
View 3p14.1 on the UCSC genome browser
2.
Identifier
rs10433502
Cytogenetic Location
3p14.1
UCSC Genome Browser
View 3p14.1 on the UCSC genome browser

Gene details

HGNC symbol
FAM19A1
Aliases
TAFA1; TAFA-1 
Common name
family with sequence similarity 19 member A1, C-C motif chemokine like 
Description
This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
Ensembl
ENSG00000183662
UniProt/Swiss-Prot
F19A1_HUMAN
Entrez Gene
407738
UniGene
655061
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
fam19a1a
Mus musculus
Fam19a1

FAT4

1.
Identifier
rs2710548
Cytogenetic Location
4q28.1
UCSC Genome Browser
View 4q28.1 on the UCSC genome browser

Gene details

HGNC symbol
FAT4
Aliases
FATJ; FAT-J; CDHF14; CDHR11; HKLLS2; VMLDS2; NBLA00548 
Common name
FAT atypical cadherin 4 
Description
The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]
OMIM
612411
Ensembl
ENSG00000196159
UniProt/Swiss-Prot
B3KU84_HUMAN
Entrez Gene
79633
UniGene
563205
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
CABZ01069287.1
Drosophila melanogaster
ft
Mus musculus
Fat4
Rattus norvegicus
Fat4

FRMD4A

1.
Identifier
rs12257410
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser

Gene details

HGNC symbol
FRMD4A
Aliases
FRMD4; CCAFCA; bA295P9.4 
Common name
FERM domain containing 4A 
Description
This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
OMIM
616305
Ensembl
ENSG00000151474
UniProt/Swiss-Prot
FRM4A_HUMAN
Entrez Gene
55691
UniGene
330463
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
F07C6.4
Danio rerio
FRMD4A
Mus musculus
Frmd4a
Rattus norvegicus
Frmd4a

GRIA4

1.
Identifier
rs680109
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser

Gene details

HGNC symbol
GRIA4
Aliases
GLUR4; GLURD; GluA4; GLUR4C 
Common name
glutamate ionotropic receptor AMPA type subunit 4 
Description
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]
OMIM
138246
Ensembl
ENSG00000152578
UniProt/Swiss-Prot
GRIA4_HUMAN
Entrez Gene
2893
UniGene
503743
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
glr-2
Caenorhabditis elegans
glr-1
Danio rerio
gria4a
Danio rerio
gria4b
Drosophila melanogaster
GluRIB
Drosophila melanogaster
GluRIA
Mus musculus
Gria4
Rattus norvegicus
Gria4

LRIF1

1.
Identifier
rs1418425
Cytogenetic Location
1p13.3
UCSC Genome Browser
View 1p13.3 on the UCSC genome browser

Gene details

HGNC symbol
LRIF1
Aliases
RIF1; C1orf103 
Common name
ligand dependent nuclear receptor interacting factor 1 
Description
OMIM
615354
Ensembl
ENSG00000121931
UniProt/Swiss-Prot
LRIF1_HUMAN
Entrez Gene
55791
UniGene
25245
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
si:ch211-261n11.5
Mus musculus
Lrif1
Rattus norvegicus
Lrif1

MOB3B

1.
Identifier
rs1555453
Cytogenetic Location
9p21.2
UCSC Genome Browser
View 9p21.2 on the UCSC genome browser

Gene details

HGNC symbol
MOB3B
Aliases
MOB1D; C9orf35; MOBKL2B 
Common name
MOB kinase activator 3B 
Description
The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. [provided by RefSeq, Jul 2008]
OMIM
Ensembl
ENSG00000120162
UniProt/Swiss-Prot
MOB3B_HUMAN
Entrez Gene
79817
UniGene
369022
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
T12B3.4
Drosophila melanogaster
Mob3
Mus musculus
Mob3b
Rattus norvegicus
Mob3b
Saccharomyces cerevisiae
MOB1

NAAA

1.
Identifier
rs10518142
Cytogenetic Location
4q21.1
UCSC Genome Browser
View 4q21.1 on the UCSC genome browser
2.
Identifier
rs4859571
Cytogenetic Location
4q21.1
UCSC Genome Browser
View 4q21.1 on the UCSC genome browser

Gene details

HGNC symbol
NAAA
Aliases
PLT; ASAHL 
Common name
N-acylethanolamine acid amidase 
Description
This gene encodes an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
607469
Ensembl
ENSG00000138744
UniProt/Swiss-Prot
NAAA_HUMAN
Entrez Gene
27163
UniGene
437365
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
Y55D5A.3
Mus musculus
Naaa
Rattus norvegicus
Naaa

OR5F2P

1.
Identifier
rs7952321
Cytogenetic Location
11q12.1
UCSC Genome Browser
View 11q12.1 on the UCSC genome browser

Gene details

HGNC symbol
OR5F2P
Aliases
 
Common name
olfactory receptor family 5 subfamily F member 2 pseudogene 
Description
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
81194
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

PDLIM5

1.
Identifier
rs6532496
Cytogenetic Location
4q22.3
UCSC Genome Browser
View 4q22.3 on the UCSC genome browser

Gene details

HGNC symbol
PDLIM5
Aliases
L9; ENH; LIM; ENH1 
Common name
PDZ and LIM domain 5 
Description
This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
OMIM
605904
Ensembl
ENSG00000163110
UniProt/Swiss-Prot
A0A024RDE8_HUMAN
Entrez Gene
10611
UniGene
480311
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
alp-1
Danio rerio
pdlim5a
Danio rerio
pdlim5b
Drosophila melanogaster
Zasp52
Mus musculus
Pdlim5
Rattus norvegicus
Pdlim5

PXYLP1

1.
Identifier
rs3210458
Cytogenetic Location
3q23
UCSC Genome Browser
View 3q23 on the UCSC genome browser

Gene details

HGNC symbol
PXYLP1
Aliases
XYLP; ACPL2; HEL124 
Common name
2-phosphoxylose phosphatase 1 
Description
OMIM
Ensembl
ENSG00000155893
UniProt/Swiss-Prot
B7Z3R9_HUMAN
Entrez Gene
92370
UniGene
657887
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
ZK809.9
Caenorhabditis elegans
ZK792.1
Danio rerio
pxylp1
Drosophila melanogaster
CG15385
Mus musculus
Pxylp1
Rattus norvegicus
Pxylp1

SDAD1

1.
Identifier
rs1857821
Cytogenetic Location
4q21.1
UCSC Genome Browser
View 4q21.1 on the UCSC genome browser
2.
Identifier
rs2271528
Cytogenetic Location
4q21.1
UCSC Genome Browser
View 4q21.1 on the UCSC genome browser

Gene details

HGNC symbol
SDAD1
Aliases
 
Common name
SDA1 domain containing 1 
Description
Other longevity studies of this gene
1
OMIM
Ensembl
ENSG00000198301
UniProt/Swiss-Prot
B4DT66_HUMAN
Entrez Gene
55153
UniGene
632604
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
pro-3
Danio rerio
sdad1
Drosophila melanogaster
Mys45A
Mus musculus
Sdad1
Rattus norvegicus
Sdad1
Saccharomyces cerevisiae
SDA1
Schizosaccharomyces pombe
sda1

SLCO1B1

1.
Identifier
rs987839
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser

Gene details

HGNC symbol
SLCO1B1
Aliases
LST1; HBLRR; LST-1; OATP2; OATPC; OATP-C; OATP1B1; SLC21A6 
Common name
solute carrier organic anion transporter family member 1B1 
Description
This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]
OMIM
604843
Ensembl
ENSG00000134538
UniProt/Swiss-Prot
A0A024RAU7_HUMAN
Entrez Gene
10599
UniGene
449738
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Slco1b2
Rattus norvegicus
Slco1b2

ST6GAL1

1.
Identifier
rs4686837
Cytogenetic Location
3q27.3
UCSC Genome Browser
View 3q27.3 on the UCSC genome browser

Gene details

HGNC symbol
ST6GAL1
Aliases
ST6N; SIAT1; ST6GalI 
Common name
ST6 beta-galactoside alpha-2,6-sialyltransferase 1 
Description
This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Three transcript variants encoding two different isoforms have been described. [provided by RefSeq, Aug 2009]
OMIM
109675
Ensembl
ENSG00000073849
UniProt/Swiss-Prot
SIAT1_HUMAN
Entrez Gene
6480
UniGene
207459
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
st6gal1
Drosophila melanogaster
ST6Gal
Mus musculus
St6gal1
Rattus norvegicus
St6gal1

UCK2

1.
Identifier
rs12562047
Cytogenetic Location
1q24.1
UCSC Genome Browser
View 1q24.1 on the UCSC genome browser

Gene details

HGNC symbol
UCK2
Aliases
UK; UMPK; TSA903 
Common name
uridine-cytidine kinase 2 
Description
This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010]
OMIM
609329
Ensembl
ENSG00000143179
UniProt/Swiss-Prot
A0A024R912_HUMAN
Entrez Gene
7371
UniGene
458360
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
B0001.4
Danio rerio
uck2b
Danio rerio
uck2a
Drosophila melanogaster
CG6364
Mus musculus
Uck2
Rattus norvegicus
Uck2
Saccharomyces cerevisiae
URK1

UMAD1

1.
Identifier
rs4720752
Cytogenetic Location
7p21.3
UCSC Genome Browser
View 7p21.3 on the UCSC genome browser

Gene details

HGNC symbol
UMAD1
Aliases
RPA3OS; RPA3-AS1 
Common name
UBAP1-MVB12-associated (UMA) domain containing 1 
Description
OMIM
Ensembl
ENSG00000219545
UniProt/Swiss-Prot
A4D104_HUMAN
Entrez Gene
729852
UniGene
652371
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
UMAD1
Mus musculus
Umad1
Mus musculus
Gm45062

References

Shi et al. (2012)

Other variants which are also part of this study