1. Gene
  2. SMARCA5 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 Gene

SMARCA5 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 Gene

Homo sapiens

Also known as ISWI; SNF2H; hISWI; hSNF2H; WCRF135

Gene ID: 8467 | Gene type: protein coding

About SMARCA5

Cytogenetic location: 4q31.21 Genomic coordinates (GRCh38): 4:143,513,702-143,557,486 (from NCBI)

This gene has 3 transcripts (splice variants), 164 orthologues, 30 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 25.1), lung (RPKM 17.3) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]

SMARCA5 Products(1)

mRNA Protein Name
NM_003601.4 NP_003592.3 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5

SMARCA5 Protein Structure

DBINO

DBINO: DNA-binding domain (69 - 109)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (183 - 463)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (520 - 597)

HAND

HAND: HAND (743 - 841)

SLIDE

SLIDE: SLIDE (898 - 1012)

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  • 1052 a.a.
Protein Preferred Names Protein Names

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5

Related Diseases

Diseases Alias
Ewing Sarcoma

Neuroepithelioma

Ewing'S Tumor

Primitive Neuroectodermal Tumor

Ewings Sarcoma

Ewing'S Sarcoma

Peripheral Neuroepithelioma

ES

Ewings Sarcoma-Primitive Neuroectodermal Tumor

Localized Peripheral Primitive Neuroectodermal Tumor

Peripheral Primitive Neuroectodermal Tumor

Ewing Tumor

Sarcoma, Ewing'S

Ewing Family Of Tumors

Extraosseous Ewing Tumor

Askin Tumor

Ewing'S Family Localized Tumor

Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing Sarcoma

Localized Ewing'S Sarcoma

Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing'S Tumor

Pnet Of Thoracopulmonary Region

Tumor Of The Ewing Family

Skeletal Ewing Sarcoma

Osseous Ewing Sarcoma

Ppnet

Peripheral Pnet

Extraskeletal Ewing Sarcoma

Eoe

Extraosseous Ewing Sarcoma

Extraskeletal Ewing Tumor

Esft

Ewing Sarcoma Family Of Tumors

Pne

Pnet

Pnet Of The Chest Wall

Sarcoma, Ewing

Neuroectodermal Tumors, Primitive, Peripheral

Neuroectodermal Tumor, Primitive

Disorder Of Eye

Askin'S Tumor

Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

Neuroepithelioma, Peripheral

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs

Ovarian Melanoma
Bone Epithelioid Hemangioma

Bone Hemangioma

Hemangioma Of Bone

Osseous Epithelioid Hemangioma

Osseous Hemangioma

Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Atr-X Syndrome

Atr, Nondeletion Type

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

Atrx Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type

Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked

X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome

Xlmr Hypotonic Face Syndrome

Alpha Thalassemia X-Linked Intellectual Disability Syndrome

Alpha Thalassemia X-Linked Mental Retardation Syndrome

Alpha Thalassemia/Mental Retardation, X-Linked

Alpha-Thalassemia X-Linked Mental Retardation Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type

X-Linked Alpha-Thalassemia/Mental Retardation Syndrome

Xlmr-Hypotonic Face Syndrome

Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked

Charge Syndrome

Charge Association

Hall-Hittner Syndrome

Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

Hhs

Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

CHARGES

Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome

Immunodeficiency Syndrome, Variable

Ciid

Centromeric Instability, Immunodeficiency Syndrome

Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

Icf

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta SMARCA5 VGNC VGNC:77649
Rattus norvegicus SMARCA5 RGD RGD:1308832
Bos taurus SMARCA5 VGNC VGNC:34988
Mus musculus SMARCA5 MGD MGI:1935129
Canis familiaris SMARCA5 VGNC VGNC:46531
Felis catus SMARCA5 VGNC VGNC:65465