Aff3 MGI Mouse Gene Detail - MGI:106927 - AF4/FMR2 family, member 3

Symbol

Aff3
Name

AF4/FMR2 family, member 3
Synonyms

3222402O04Rik, Laf4, LAF-4

Feature Type

protein coding gene
IDs

MGI:106927
NCBI Gene: 16764
Alliance

gene page
Transcription Start Sites

19 TSS

Sequence Map

Chr1:38216407-38704036 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 16.58 cM
Mapping Data

2 experiments

SNPs within 2kb

14135 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_106927	protein coding gene	Chr1:38212936-38704036 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0015950	protein coding gene	Chr1:36843514-37339104 (-)
A/J	MGP_AJ_G0015934	protein coding gene	Chr1:35833839-36330266 (-)
AKR/J	MGP_AKRJ_G0015889	protein coding gene	Chr1:36323687-36819557 (-)
BALB/cJ	MGP_BALBcJ_G0015888	protein coding gene	Chr1:35484445-35972576 (-)
C3H/HeJ	MGP_C3HHeJ_G0015721	protein coding gene	Chr1:36550505-37057475 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016341	protein coding gene	Chr1:38436160-38947418 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014063	protein coding gene	Chr1:32806875-33287377 (-)
CAST/EiJ	MGP_CASTEiJ_G0015302	protein coding gene	Chr1:36411384-36932001 (-)
CBA/J	MGP_CBAJ_G0015693	protein coding gene	Chr1:39495674-40017966 (-)
DBA/2J	MGP_DBA2J_G0015794	protein coding gene	Chr1:35129940-35621790 (-)
FVB/NJ	MGP_FVBNJ_G0015796	protein coding gene	Chr1:34658712-35145850 (-)
LP/J	MGP_LPJ_G0015864	protein coding gene	Chr1:37191027-37692531 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015816	protein coding gene	Chr1:41642733-42157410 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016388	protein coding gene	Chr1:36395288-36899188 (-)
PWK/PhJ	MGP_PWKPhJ_G0015085	protein coding gene	Chr1:34919373-35410948 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0014867	protein coding gene	Chr1:36345326-36834801 (-)
WSB/EiJ	MGP_WSBEiJ_G0015364	protein coding gene	Chr1:36356852-36865255 (-)

Human Ortholog

AFF3, ALF transcription elongation factor 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AFF3, ALF transcription elongation factor 3
Synonyms

KINS, LAF4, MLLT2-like
Links

HGNC:6473

NCBI Gene ID: 3899

neXtProt AC: NX_P51826

UniProt: P51826
Chr Location

2q11.2; chr2:99545419-100192428 (-) GRCh38

MGI Vertebrate Homology

Aff3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AFF3
Gene Tree

Aff3

Diseases

1 with Aff3 mouse models; 1 with human AFF3 associations

Human Disease

Mouse Models

KINSSHIP syndrome

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

less

Phenotype Summary

24 phenotypes from 3 alleles in 4 genetic backgrounds
19 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

14
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

3
Targeted

3
Transposon induced

1
Genomic Mutations

1 involving Aff3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

53 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a humanized allele exhibit decreased fetal size, intestine prolapse, polydactyly, and abnormal long bones.

less

All GO Annotations

20
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.

less

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

1008
Tissues

259
cDNA Data

73
Literature Summary

15

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase aff3

ZFIN aff3

less

All Sequences

56
RefSeq

14
UniProt

4
CCDS

CCDS48243.1, CCDS69884.1

Ensembl

ENSMUSG00000037138 (Evidence)
NCBI Gene

16764

			Length	Strain/Species	Flank
genomic	ENSMUSG00000037138	Ensembl Gene Model \| MGI Sequence Detail	487630	C57BL/6J	± kb
transcript	ENSMUST00000238906	Ensembl \| MGI Sequence Detail	5948	Not Applicable
polypeptide	ENSMUSP00000159147	Ensembl \| MGI Sequence Detail	1254	Not Applicable

less

UniProt

4 Sequences
Protein Ontology

PR:000003805 AF4/FMR2 family member 3

(term hierarchy)
InterPro Domains

IPR043640 AF4/FMR2, C-terminal homology domain

IPR007797 AF4/FMR2 family

IPR043639 AF4 interaction motif
GlyGen

P51827 1 site, 1 N-linked glycan (1 site)

less

All nucleic 78

Genomic 1

cDNA 74

Primer pair 2

Other 1

Microarray probesets 2

less

MGD-MRK-35388, MGI:1918018

Summaries

All 57

Developmental Gene Expression 15

Diseases 1

Gene Ontology 7

Phenotypes 19
Earliest

J:30625 Ma C, et al., LAF-4 encodes a lymphoid nuclear protein with transactivation potential that is homologous to AF-4, the gene fused to MLL in t(4;11) leukemias. Blood. 1996 Jan 15;87(2):734-45
Latest

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

TSS for Aff3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr11351	Chr1:38704673-38704680 (-)	-641 bp
Tssr11350	Chr1:38704104-38704115 (-)	-74 bp
Tssr11349	Chr1:38704086-38704093 (-)	-54 bp
Tssr11348	Chr1:38704028-38704081 (-)	-19 bp
Tssr11347	Chr1:38704015-38704026 (-)	15 bp
Tssr11346	Chr1:38704003-38704014 (-)	27 bp
Tssr11345	Chr1:38677712-38677714 (-)	26,323 bp
Tssr11344	Chr1:38667158-38667173 (-)	36,870 bp
Tssr11343	Chr1:38666667-38666686 (-)	37,359 bp
Tssr11342	Chr1:38666650-38666663 (-)	37,379 bp
Tssr11341	Chr1:38666619-38666630 (-)	37,411 bp
Tssr11340	Chr1:38666496-38666548 (-)	37,514 bp
Tssr11339	Chr1:38654619-38654623 (-)	49,415 bp
Tssr11338	Chr1:38643003-38643006 (-)	61,031 bp
Tssr11337	Chr1:38530887-38530891 (-)	173,147 bp
Tssr11336	Chr1:38511531-38511534 (-)	192,503 bp
Tssr53	Chr1:38433053-38433056 (-)	270,981 bp
Tssr11335	Chr1:38361062-38361078 (-)	342,966 bp
Tssr11334	Chr1:38359340-38359353 (-)	344,689 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 11/12/2024 MGI 6.24