Rfxank MGI Mouse Gene Detail - MGI:1333865 - regulatory factor X-associated ankyrin-containing protein

Symbol

Rfxank
Name

regulatory factor X-associated ankyrin-containing protein
Synonyms

Tvl1

Feature Type

protein coding gene
IDs

MGI:1333865
NCBI Gene: 19727
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr8:70583444-70591804 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 34.15 cM, cytoband C1
Mapping Data

2 experiments

SNPs within 2kb

278 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1333865	protein coding gene	Chr8:70583444-70591847 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0033690	protein coding gene	Chr8:70379251-70387895 (-)
A/J	MGP_AJ_G0033673	protein coding gene	Chr8:67517586-67525998 (-)
AKR/J	MGP_AKRJ_G0033598	protein coding gene	Chr8:69438395-69446839 (-)
BALB/cJ	MGP_BALBcJ_G0033669	protein coding gene	Chr8:67747168-67755669 (-)
C3H/HeJ	MGP_C3HHeJ_G0033379	protein coding gene	Chr8:70082859-70091393 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0034186	protein coding gene	Chr8:73037638-73046023 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031130	protein coding gene	Chr8:62336947-62345651 (-)
CAST/EiJ	MGP_CASTEiJ_G0032704	protein coding gene	Chr8:69570198-69578503 (-)
CBA/J	MGP_CBAJ_G0033357	protein coding gene	Chr8:75685322-75693825 (-)
DBA/2J	MGP_DBA2J_G0033511	protein coding gene	Chr8:67244240-67252649 (-)
FVB/NJ	MGP_FVBNJ_G0033452	protein coding gene	Chr8:66345565-66354088 (-)
LP/J	MGP_LPJ_G0033598	protein coding gene	Chr8:70419185-70427578 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033496	protein coding gene	Chr8:78341481-78349891 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034204	protein coding gene	Chr8:69618265-69626773 (-)
PWK/PhJ	MGP_PWKPhJ_G0032412	protein coding gene	Chr8:66529341-66538245 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0032248	protein coding gene	Chr8:68592913-68601582 (-)
WSB/EiJ	MGP_WSBEiJ_G0032819	protein coding gene	Chr8:69978827-69988313 (-)

Human Ortholog

RFXANK, regulatory factor X associated ankyrin containing protein

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RFXANK, regulatory factor X associated ankyrin containing protein
Synonyms

ANKRA1, BLS, F14150_1, MHC2D2, RFX-B
Links

HGNC:9987

NCBI Gene ID: 8625

neXtProt AC: NX_O14593

UniProt: O14593
Chr Location

19p13.11; chr19:19192229-19201869 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: RFXANK
Protein SuperFamily

DNA-binding_RFXANK
Gene Tree

Rfxank

Diseases

1 with human RFXANK associations

				Human Disease	Mouse Models
				severe combined immunodeficiency IDs severe combined immunodeficiency DOID:627 MESH:D016511 NCI:C3472 UMLS_CUI:C0085110

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

less

Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
11 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

20
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

14
Targeted

3
Genomic Mutations

1 involving Rfxank
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

less

All GO Annotations

22
GO References

5

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

866
Tissues

137
cDNA Data

18
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA RFXANK

Xenbase rfxank

ZFIN rfxank

less

All Sequences

49
RefSeq

4
UniProt

4
CCDS

CCDS22360.1, CCDS85552.1

Ensembl

ENSMUSG00000036120 (Evidence)
NCBI Gene

19727

			Length	Strain/Species	Flank
genomic	ENSMUSG00000036120	Ensembl Gene Model \| MGI Sequence Detail	8361	C57BL/6J	± kb
transcript	ENSMUST00000212320	Ensembl \| MGI Sequence Detail	1121	Not Applicable
polypeptide	ENSMUSP00000148739	Ensembl \| MGI Sequence Detail	269	Not Applicable

less

UniProt

4 Sequences
Protein Ontology

PR:000013930 DNA-binding protein RFXANK

(term hierarchy)
InterPro Domains

IPR002110 Ankyrin repeat

IPR036770 Ankyrin repeat-containing domain superfamily

IPR017362 DNA-binding, RFXANK

less

All nucleic 20

cDNA 20

Microarray probesets 6

Summaries

All 40

Developmental Gene Expression 3

Gene Ontology 5

Phenotypes 11
Earliest

J:50539 Masternak K, et al., A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat Genet. 1998 Nov;20(3):273-7
Latest

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

TSS for Rfxank:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr81597	Chr8:70591849-70591911 (-)	-76 bp
Tssr81596	Chr8:70591800-70591812 (-)	-2 bp
Tssr81595	Chr8:70591750-70591782 (-)	38 bp
Tssr81594	Chr8:70591717-70591742 (-)	74 bp
Tssr81593	Chr8:70591705-70591712 (-)	95 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 12/10/2024 MGI 6.24