Gene

frmd5b

ID

ZDB-GENE-060810-165

Name

FERM domain containing 5b

Symbol

frmd5b Nomenclature History

Previous Names

frmd5
im:7161681

Type

protein_coding_gene

Location

Chr: 7 Mapping Details/Browsers

Description

Predicted to be involved in actomyosin structure organization. Predicted to be located in adherens junction. Predicted to be active in cytoskeleton. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with eye movement abnormalities and ataxia. Orthologous to human FRMD5 (FERM domain containing 5).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7161681 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Allele	Type	Localization	Consequence	Mutagen	Supplier
sa11096	Allele with one point mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa31577	Allele with one point mutation	Unknown	Unknown	ENU	Zebrafish International Resource Center (ZIRC) (order this)

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Sequence Targeting Reagents

No data available

Human Disease

Associated With frmd5b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
neurodevelopmental disorder with eye movement abnormalities and ataxia	Alliance	Neurodevelopmental disorder with eye movement abnormalities and ataxia	620094

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Associated With frmd5b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR019747	FERM conserved site
Domain	IPR000299	FERM domain
Domain	IPR014847	FERM adjacent
Domain	IPR018979	FERM, N-terminal
Domain	IPR018980	FERM, C-terminal PH-like domain

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Domain Details Per Protein

Protein	Additional Resources	Length	Band 4.1 domain	FERM/acyl-CoA-binding protein superfamily	FERM adjacent	FERM central domain	FERM conserved site	FERM, C-terminal PH-like domain	FERM domain	FERM, N-terminal	FERM superfamily, second domain	PH-like domain superfamily	Ubiquitin-like domain superfamily
UniProtKB:E7F1C5	InterPro	571
UniProtKB:A0AB32TXM2	InterPro	490

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Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Genome Build: GRCz11Chromosome: 7

Type	Name	Annotation Method	Length (nt)	Analysis
aberrant processed transcript	frmd5b-202 (1) Ensembl	Ensembl	510 nt	Select Tool ZFIN BLAST
mRNA	frmd5b-201 (1) Ensembl	Ensembl	5,558 nt	Select Tool ZFIN BLAST
mRNA	frmd5b-205 (1) Ensembl	Ensembl	783 nt	Select Tool ZFIN BLAST
ncRNA	frmd5b-203 (1) Ensembl	Ensembl	695 nt	Select Tool ZFIN BLAST
ncRNA	frmd5b-204 (1) Ensembl	Ensembl	789 nt	Select Tool ZFIN BLAST

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Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

No data available

Marker Relationships

Relationship	Marker Type	Marker	Accession Numbers	Citations
Contained in	BAC	CH211-107O10	CR356246	ZFIN Curated Data
Contained in	BAC	CH211-286F4	BX001033	ZFIN Curated Data
Encodes	EST	IMAGE:7161681	CK696341	Thisse et al., 2004

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Sequences

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:XM_693389 (1)	7760 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:CR381651 (1)	154341 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:E7F1C5 (1)	571 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Orthology

Comparative Orthology: Alliance

Species	Symbol	Chromosome	Accession #	Evidence
Human	FRMD5	15	Ensembl:ENSG00000171877 Gene:84978 HGNC:28214 OMIM:616309	Amino acid sequence comparison (1) Conserved genome location (synteny) (1)
Mouse	Frmd5	2	Ensembl:ENSMUSG00000027238 Gene:228564 MGI:2442557	Conserved genome location (synteny) (1) Amino acid sequence comparison (1)

Citations

Include unpublished citations

Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37

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