1. Gene
  2. TMEM11 - transmembrane protein 11 Gene

TMEM11 - transmembrane protein 11 Gene

Homo sapiens

Also known as PM1; PMI; C17orf35

Gene ID: 8834 | Gene type: protein coding

About TMEM11

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:21,197,954-21,214,161 (from NCBI)

This gene has 6 transcripts (splice variants) and 222 orthologues. Ubiquitous expression in fat (RPKM 9.9), bone marrow (RPKM 9.5) and 25 other tissues.

Summary

Involved in mitochondrion organization. Located in mitochondrion. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]

TMEM11 Products(1)

mRNA Protein Name
NM_003876.3 NP_003867.1 transmembrane protein 11, mitochondrial

TMEM11 Protein Structure

Mito_morph_reg

Mito_morph_reg: Mitochondrial morphogenesis regulator (27 - 190)

  • 0
  • 100
  • 192 a.a.
Protein Preferred Names Protein Names

transmembrane protein 11, mitochondrial

putative receptor protein

Related Diseases

Diseases Alias
Cortical Dysplasia, Complex, With Other Brain Malformations 3

Complex Cortical Dysplasia With Other Brain Malformations 3

CDCBM3

Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 3

Penicilliosis
Deafness, Autosomal Dominant 69

DCUA

DFNA69

Deafness, Congenital, Unilateral Or Asymmetric

Deafness, Autosomal Dominant 69, Unilateral Or Asymmetric

Autosomal Dominant Nonsyndromic Deafness 69

Autosomal Dominant Deafness 69

Unilateral Or Asymmetric Congenital Deafness

Combined Oxidative Phosphorylation Deficiency 21

COXPD21

Combined Oxidative Phosphorylation Defect Type 21

Combined Oxidative Phosphorylation Deficiency, Type 21

Autosomal Dominant Intellectual Developmental Disorder 31

Autosomal Dominant Non-Syndromic Intellectual Disability 31

Autosomal Dominant Mental Retardation 31

Mrd31

Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders

X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome

EPILX

X-Linked Epilepsy With Variable Learning Disabilities And Behavior Disorders

Epilepsy, X-Linked, With Reflex Bathing Seizures

Bathing Epilepsy, X-Linked

Parkinson Disease 17

PARK17

Parkinson'S Disease 17

Autosomal Dominant Parkinson Disease 17

Parkinson Disease, Type 17

Trichorhinophalangeal Syndrome, Type Iii

Trichorhinophalangeal Syndrome Type Iii

TRPS3

Sugio-Kajii Syndrome

Trichorhinophalangeal Syndrome Type 3

Trps 3

Tricho-Rhino-Phalangeal Syndrome 3

Sick Building Syndrome
Parotid Gland Adenoid Cystic Carcinoma

Adenoid Cystic Carcinoma Of Parotid Gland

Hyperchlorhidrosis, Isolated

Isolated Hyperchlorhidrosis

HYCHL

Carbonic Anhydrase Xii Deficiency

Pediculus Humanus Capitis Infestation

Pediculosis Capitis

Pediculus Capitis Infestation

Head Louse Infestation

Pediculus Capitis

Head-Louse Infestation

Head Lice

Infestation By Pediculus Capitis

Arthrogryposis, Renal Dysfunction, And Cholestasis 1

Arc Syndrome

ARCS1

Arthrogryposis Renal Dysfunction Cholestasis Syndrome

Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

Arcs

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction, And Cholestasis

Arthrogryposis-Renal Dysfunction-Cholestasis

Arthrogryposis - Renal Dysfunction - Cholestasis

Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1

Arthrogryposis Renal Dysfunction And Cholestasis 1

Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1

Kidney Failure

Renal Insufficiency

Focal Segmental Glomerulosclerosis 1

FSGS1

Glomerulosclerosis, Focal Segmental, 1

Glomerulosclerosis, Segmental, Focal, Type 1

Segmental Glomerulosclerosis

Microphthalmia, Syndromic 13

X-Linked Colobomatous Microphthalmia-Microcephaly-Intellectual Disability-Short Stature Syndrome

MCOPS13

Maine Microphthalmos

Colobomatous Microphthalmia With Microcephaly, Short Stature, And Psychomotor Retardation

Syndromic Microphthalmia 13

X-Linked Colobomatous Microphthalmia-Microcephaly-Short Stature-Psychomotor Retardation Syndrome

Microphthalmia, Syndromic, 13

Microphthalmia, Syndromic, Type 13

Pediculus Humanus Corporis Infestation

Body Louse Infestation

Pediculus Corporis

Pediculus Humanus Infestation

Developmental And Epileptic Encephalopathy 87

DEE87

Epileptic Encephalopathy, Early Infantile, 87

Eiee87

Developmental And Epileptic Encephalopathy, 87

Early Infantile Epileptic Encephalopathy 87

Hard Palate Cancer

Malignant Neoplasm Of Hard Palate

Malignant Tumor Of Hard Palate

Malignant Tumour Of Hard Palate

Hypogonadotropic Hypogonadism 2 With Or Without Anosmia

Kallmann Syndrome 2

Kal2

HH2

Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

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
Felis catus TMEM11 VGNC VGNC:66260
Mus musculus TMEM11 MGD MGI:2144726
Canis familiaris TMEM11 VGNC VGNC:47451
Macaca mulatta TMEM11 VGNC VGNC:82256
Bos taurus TMEM11 VGNC VGNC:35950
Rattus norvegicus TMEM11 RGD RGD:1309817