Aff2 MGI Mouse Gene Detail - MGI:1202294 - AF4/FMR2 family, member 2

Symbol

Aff2
Name

AF4/FMR2 family, member 2
Synonyms

Fmr2, Ox19, Oxh

Feature Type

protein coding gene
IDs

MGI:1202294
NCBI Gene: 14266
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

ChrX:68403900-68911643 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 35.53 cM, cytoband A5
Mapping Data

1 experiment

SNPs within 2kb

9281 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1202294	protein coding gene	ChrX:68403796-68915660 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035774	protein coding gene	ChrX:64981656-65487592 (+)
A/J	MGP_AJ_G0035757	protein coding gene	ChrX:65100066-65628126 (+)
AKR/J	MGP_AKRJ_G0035679	protein coding gene	ChrX:66870796-67407169 (+)
BALB/cJ	MGP_BALBcJ_G0035744	protein coding gene	ChrX:64320041-64822019 (+)
C3H/HeJ	MGP_C3HHeJ_G0035448	protein coding gene	ChrX:65416033-65934987 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0036274	protein coding gene	ChrX:66942340-67471188 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033123	protein coding gene	ChrX:64087573-64570606 (+)
CAST/EiJ	MGP_CASTEiJ_G0034739	protein coding gene	ChrX:50907569-51411243 (+)
CBA/J	MGP_CBAJ_G0035422	protein coding gene	ChrX:68767456-69319484 (+)
DBA/2J	MGP_DBA2J_G0035575	protein coding gene	ChrX:64662756-65156340 (+)
FVB/NJ	MGP_FVBNJ_G0035526	protein coding gene	ChrX:64127542-64619116 (+)
LP/J	MGP_LPJ_G0035663	protein coding gene	ChrX:65769005-66265530 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035561	protein coding gene	ChrX:71224538-71816737 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036295	protein coding gene	ChrX:64797983-65319213 (+)
PWK/PhJ	MGP_PWKPhJ_G0034439	protein coding gene	ChrX:49054624-49545401 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034278	protein coding gene	ChrX:51881169-52390175 (+)
WSB/EiJ	MGP_WSBEiJ_G0034882	protein coding gene	ChrX:64152116-64654496 (+)

Human Ortholog

AFF2, ALF transcription elongation factor 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AFF2, ALF transcription elongation factor 2
Synonyms

FMR2, FMR2P, FRAXE, MRX2, OX19, XLID109
Links

HGNC:3776

NCBI Gene ID: 2334

neXtProt AC: NX_P51816

UniProt: P51816
Chr Location

Xq28; chrX:148500617-149000663 (+) GRCh38

MGI Vertebrate Homology

Aff2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AFF2
Gene Tree

Aff2

Diseases

1 with human AFF2 associations

				Human Disease	Mouse Models
				X-linked intellectual developmental disorder 109 IDs X-linked intellectual developmental disorder 109 DOID:0080984 OMIM:309548 ORDO:100973

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

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Phenotype Summary

10 phenotypes from 2 alleles in 2 genetic backgrounds
7 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

7
Endonuclease-mediated

5
Spontaneous

1
Targeted

1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit impaired conditioned fear responses and enhanced long-term potentiation in hippocampal slices.

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All GO Annotations

16
GO References

7

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

931
Tissues

198
cDNA Data

11
Literature Summary

10

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase aff2

ZFIN aff2

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All Sequences

51
RefSeq

16
UniProt

3
CCDS

CCDS30173.1

Ensembl

ENSMUSG00000031189 (Evidence)
NCBI Gene

14266

			Length	Strain/Species	Flank
genomic	ENSMUSG00000031189	Ensembl Gene Model \| MGI Sequence Detail	507744	C57BL/6J	± kb
transcript	ENSMUST00000033532	Ensembl \| MGI Sequence Detail	4523	Not Applicable
polypeptide	ENSMUSP00000033532	Ensembl \| MGI Sequence Detail	1272	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000032758 AF4/FMR2 family member 2

(term hierarchy)
InterPro Domains

IPR043640 AF4/FMR2, C-terminal homology domain

IPR007797 AF4/FMR2 family

IPR043639 AF4 interaction motif

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All nucleic 19

cDNA 13

Primer pair 5

Other 1

Microarray probesets 4

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MGD-MRK-35041, MGI:106585

Summaries

All 43

Developmental Gene Expression 10

Gene Ontology 7

Phenotypes 7
Earliest

J:31280 Chakrabarti L, et al., A candidate gene for mild mental handicap at the FRAXE fragile site. Hum Mol Genet. 1996 Feb;5(2):275-82
Latest

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

TSS for Aff2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr161148	ChrX:68403912-68403993 (+)	53 bp
Tssr161149	ChrX:68404000-68404017 (+)	109 bp
Tssr161150	ChrX:68434033-68434039 (+)	30,136 bp
Tssr161151	ChrX:68458918-68458945 (+)	55,032 bp
Tssr5629	ChrX:68897237-68897239 (+)	493,338 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/05/2024 MGI 6.24