Aff4 MGI Mouse Gene Detail - MGI:2136171 - AF4/FMR2 family, member 4

Symbol

Aff4
Name

AF4/FMR2 family, member 4
Synonyms

Alf4, Laf4l

Feature Type

protein coding gene
IDs

MGI:2136171
NCBI Gene: 93736
Alliance

gene page
Transcription Start Sites

14 TSS

Sequence Map

Chr11:53241660-53312657 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 31.93 cM
Mapping Data

1 experiment

SNPs within 2kb

1238 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2136171	protein coding gene	Chr11:53240807-53312657 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018289	protein coding gene	Chr11:52729632-52803230 (+)
A/J	MGP_AJ_G0018258	protein coding gene	Chr11:50751086-50822707 (+)
AKR/J	MGP_AKRJ_G0018228	protein coding gene	Chr11:52404686-52478052 (+)
BALB/cJ	MGP_BALBcJ_G0018229	protein coding gene	Chr11:51106611-51180476 (+)
C3H/HeJ	MGP_C3HHeJ_G0018040	protein coding gene	Chr11:52373384-52450343 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018681	protein coding gene	Chr11:54319664-54397748 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016331	protein coding gene	Chr11:48282793-48360865 (+)
CAST/EiJ	MGP_CASTEiJ_G0017605	protein coding gene	Chr11:52419882-52495631 (+)
CBA/J	MGP_CBAJ_G0018015	protein coding gene	Chr11:56881933-56968083 (+)
DBA/2J	MGP_DBA2J_G0018125	protein coding gene	Chr11:50499102-50571471 (+)
FVB/NJ	MGP_FVBNJ_G0018117	protein coding gene	Chr11:50137517-50209804 (+)
LP/J	MGP_LPJ_G0018199	protein coding gene	Chr11:53173023-53256825 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018141	protein coding gene	Chr11:58209295-58296651 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018723	protein coding gene	Chr11:52434176-52508204 (+)
PWK/PhJ	MGP_PWKPhJ_G0017380	protein coding gene	Chr11:51011044-51085243 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017175	protein coding gene	Chr11:52243889-52328233 (+)
WSB/EiJ	MGP_WSBEiJ_G0017652	protein coding gene	Chr11:52067811-52149840 (+)

Human Ortholog

AFF4, ALF transcription elongation factor 4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AFF4, ALF transcription elongation factor 4
Synonyms

AF5Q31, CHOPS, MCEF
Links

HGNC:17869

NCBI Gene ID: 27125

neXtProt AC: NX_Q9UHB7

UniProt: Q9UHB7
Chr Location

5q31.1; chr5:132875395-132963634 (-) GRCh38

MGI Vertebrate Homology

Aff4 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AFF4
Gene Tree

Aff4

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Phenotype Summary

28 phenotypes from 2 alleles in 2 genetic backgrounds
17 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

46
Chemically induced (other)

1
Endonuclease-mediated

5
Gene trapped

35
Targeted

5
Genomic Mutations

1 involving Aff4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

93 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities.

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All GO Annotations

13
GO References

8

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

1002
Tissues

175
cDNA Data

261
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase aff4

ZFIN aff4

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All Sequences

66
RefSeq

8
UniProt

4
CCDS

CCDS24676.1

Ensembl

ENSMUSG00000049470 (Evidence)
NCBI Gene

93736

			Length	Strain/Species	Flank
genomic	ENSMUSG00000049470	Ensembl Gene Model \| MGI Sequence Detail	70998	C57BL/6J	± kb
transcript	ENSMUST00000060945	Ensembl \| MGI Sequence Detail	10099	Not Applicable
polypeptide	ENSMUSP00000051479	Ensembl \| MGI Sequence Detail	1160	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000003806 AF4/FMR2 family member 4

(term hierarchy)
InterPro Domains

IPR043640 AF4/FMR2, C-terminal homology domain

IPR007797 AF4/FMR2 family

IPR043639 AF4 interaction motif
GlyGen

Q9ESC8 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 268

Genomic 1

cDNA 261

Primer pair 5

Other 1

Microarray probesets 6

Summaries

All 49

Developmental Gene Expression 6

Gene Ontology 8

Phenotypes 17
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

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

TSS for Aff4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr101391	Chr11:53241561-53241609 (+)	-75 bp
Tssr101392	Chr11:53241610-53241627 (+)	-41 bp
Tssr101393	Chr11:53241703-53241717 (+)	50 bp
Tssr3495	Chr11:53241737-53241747 (+)	82 bp
Tssr3496	Chr11:53241751-53241758 (+)	95 bp
Tssr3497	Chr11:53241802-53241811 (+)	147 bp
Tssr101394	Chr11:53241819-53241826 (+)	163 bp
Tssr101395	Chr11:53241858-53241873 (+)	206 bp
Tssr101396	Chr11:53241881-53241892 (+)	227 bp
Tssr3498	Chr11:53241904-53241912 (+)	248 bp
Tssr101397	Chr11:53242677-53242717 (+)	1,037 bp
Tssr101398	Chr11:53242889-53242924 (+)	1,247 bp
Tssr101399	Chr11:53261766-53261772 (+)	20,109 bp
Tssr101400	Chr11:53263302-53263328 (+)	21,655 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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