Papss2 MGI Mouse Gene Detail - MGI:1330223 - 3'-phosphoadenosine 5'-phosphosulfate synthase 2

Symbol

Papss2
Name

3'-phosphoadenosine 5'-phosphosulfate synthase 2
Synonyms

1810018P12Rik, Atpsk2, Sk2

Feature Type

protein coding gene
IDs

MGI:1330223
NCBI Gene: 23972
Alliance

gene page
Transcription Start Sites

22 TSS

Sequence Map

Chr19:32573190-32644587 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 27.46 cM
Mapping Data

29 experiments

SNPs within 2kb

2334 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1330223	protein coding gene	Chr19:32573072-32644587 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025041	protein coding gene	Chr19:31259770-31309242 (+)
A/J	MGP_AJ_G0025018	protein coding gene	Chr19:29704110-29751018 (+)
AKR/J	MGP_AKRJ_G0024986	protein coding gene	Chr19:30745493-30793162 (+)
BALB/cJ	MGP_BALBcJ_G0025017	protein coding gene	Chr19:29763330-29811612 (+)
C3H/HeJ	MGP_C3HHeJ_G0024773	protein coding gene	Chr19:30741800-30790511 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025458	protein coding gene	Chr19:32139431-32190916 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022877	protein coding gene	Chr19:29612430-29659549 (+)
CAST/EiJ	MGP_CASTEiJ_G0024244	protein coding gene	Chr19:30644735-30697651 (+)
CBA/J	MGP_CBAJ_G0024751	protein coding gene	Chr19:33631630-33687936 (+)
DBA/2J	MGP_DBA2J_G0024883	protein coding gene	Chr19:29628197-29676350 (+)
FVB/NJ	MGP_FVBNJ_G0024845	protein coding gene	Chr19:29455771-29503313 (+)
LP/J	MGP_LPJ_G0024968	protein coding gene	Chr19:31259974-31321526 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024872	protein coding gene	Chr19:33481866-33540793 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025513	protein coding gene	Chr19:30803409-30852571 (+)
PWK/PhJ	MGP_PWKPhJ_G0023992	protein coding gene	Chr19:29325765-29374576 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023796	protein coding gene	Chr19:30123538-30171299 (+)
WSB/EiJ	MGP_WSBEiJ_G0024310	protein coding gene	Chr19:30831300-30880527 (+)

Human Ortholog

PAPSS2, 3'-phosphoadenosine 5'-phosphosulfate synthase 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PAPSS2, 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Synonyms

ATPSK2, BCYM4, SK2
Links

HGNC:8604

NCBI Gene ID: 9060

neXtProt AC: NX_O95340

UniProt: O95340
Chr Location

10q23.2-q23.31; chr10:87659613-87747705 (+) GRCh38

MGI Vertebrate Homology

Papss2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PAPSS2
Gene Tree

Papss2

Diseases

1 with Papss2 mouse models; 1 with human PAPSS2 associations

Human Disease

Mouse Models

spondyloepimetaphyseal dysplasia, Pakistani type

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

33 phenotypes from 2 alleles in 5 genetic backgrounds
15 phenotypes from multigenic genotypes
1 images
33 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

8
Endonuclease-mediated

2
Gene trapped

2
Spontaneous

1
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

33 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for mutation s in this gene display delayed growth and shorter limbs and other abnormalities in bone formation.

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All GO Annotations

22
GO References

13

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1224
Tissues

294
cDNA Data

67
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA PAPSS2

Xenbase papss2

ZFIN papss2a, papss2b

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All Sequences

49
RefSeq

8
UniProt

3
CCDS

CCDS37960.1, CCDS89376.1, CCDS89377.1

Ensembl

ENSMUSG00000024899 (Evidence)
NCBI Gene

23972

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024899	Ensembl Gene Model \| MGI Sequence Detail	71398	C57BL/6J	± kb
transcript	ENSMUST00000025833	Ensembl \| MGI Sequence Detail	3635	Not Applicable
polypeptide	ENSMUSP00000025833	Ensembl \| MGI Sequence Detail	621	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000012274 bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2

(term hierarchy)
EC

2.7.1.25, 2.7.7.4
InterPro Domains

IPR002891 Adenylyl-sulfate kinase

IPR025980 ATP-sulfurylase PUA-like domain

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR015947 PUA-like superfamily

IPR014729 Rossmann-like alpha/beta/alpha sandwich fold

IPR002650 Sulphate adenylyltransferase

IPR024951 Sulphate adenylyltransferase catalytic domain
GlyGen

O88428 1 site, 1 O-linked glycan (1 site)

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All nucleic 78

Genomic 3

cDNA 67

Primer pair 6

Other 2

Microarray probesets 6

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MGD-MRK-1582, MGI:1921420, MGI:2147481, MGI:88171

Summaries

All 94

Developmental Gene Expression 13

Diseases 1

Gene Ontology 13

Phenotypes 33
Earliest

J:5109 Lane PW, et al., Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby. J Hered. 1968 Sep-Oct;59(5):300-8
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Papss2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr155968	Chr19:32572813-32572848 (+)	-359 bp
Tssr155969	Chr19:32573127-32573145 (+)	-54 bp
Tssr155970	Chr19:32573152-32573180 (+)	-24 bp
Tssr155971	Chr19:32573182-32573199 (+)	1 bp
Tssr155972	Chr19:32597379-32597396 (+)	24,198 bp
Tssr155973	Chr19:32597397-32597431 (+)	24,224 bp
Tssr155974	Chr19:32597448-32597460 (+)	24,264 bp
Tssr155975	Chr19:32615014-32615060 (+)	41,847 bp
Tssr155976	Chr19:32620480-32620483 (+)	47,292 bp
Tssr155977	Chr19:32622543-32622560 (+)	49,362 bp
Tssr155978	Chr19:32626535-32626539 (+)	53,347 bp
Tssr155979	Chr19:32642829-32642838 (+)	69,644 bp
Tssr155980	Chr19:32642875-32642915 (+)	69,705 bp
Tssr155981	Chr19:32642916-32642995 (+)	69,766 bp
Tssr155982	Chr19:32643005-32643012 (+)	69,819 bp
Tssr155983	Chr19:32643013-32643043 (+)	69,838 bp
Tssr155984	Chr19:32643165-32643185 (+)	69,985 bp
Tssr155985	Chr19:32643192-32643221 (+)	70,017 bp
Tssr155986	Chr19:32643247-32643314 (+)	70,091 bp
Tssr155987	Chr19:32643316-32643335 (+)	70,136 bp
Tssr155988	Chr19:32643429-32643440 (+)	70,245 bp
Tssr5484	Chr19:32643758-32643771 (+)	70,575 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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